Modernising Scientific Careers
Scientist Training Programme
Work Based Training
Learning Guide
Genomic Sciences 2016/17
STP WORK BASED PROGRAMME IN
GENETIC COUNSELLING
Contents
SECTION 1: GENERAL INTRODUCTION ................................................................. 3
READERSHIP ............................................................................................................ 4
1.1 Scientist Training Programme (STP) Overview .................................................... 5
1.2 Outcomes of the Work Based STP ....................................................................... 8
1.3 Key Components of Work Based Training in STP ................................................ 9
1.4 Host Training Departments ................................................................................. 10
1.5 National School of Healthcare Science (NSHCS) and the STP .......................... 13
1.6 The Structure of the Learning Frameworks ......................................................... 13
1.7 Assessment during Work Based Training ........................................................... 14
1.8 Quality Assurance and Quality Management ...................................................... 16
SECTION 2: PROGRAMME OVERVIEW ................................................................ 19
SECTION 3: ROTATIONAL LEARNING FRAMEWORKS ...................................... 25
Genetics, Genomics and Molecular Science (CG-1) ................................................ 27
Principles and Practice of Genetic and Genomic Counselling (GC-1) ...................... 33
Introduction to Clinical Bioinformatics and Genetics (CBI-1)..................................... 38
Clinical Biochemistry – Investigation of Major Organ Function (CB-1) ...................... 44
Immunity and the Principles and Practice of Clinical Immunology (CI-1) .................. 50
Haematology and Transfusion Science (HT-1) ......................................................... 56
Introduction to Principles and Practice of Histopathology (HP-1).............................. 65
Principles and Practice of Cervical Cytology and Diagnostic Cytopathology (CP-1) . 71
Principles and Practice of Reproductive Science and Diagnostic Semen Analysis
(RS-1) 76
SECTION 4: PROFESSIONAL PRACTICE LEARNING FRAMEWORK................. 81
Professional Practice (PP1) ...................................................................................... 84
SECTION 5: ELECTIVE LEARNING FRAMEWORK............................................... 95
Elective (EL) ............................................................................................................. 97
SECTION 6: SPECIALIST LEARNING FRAMEWORK: GENOMICS ..................... 99
Prenatal Genomics (CG-2) ..................................................................................... 102
Paediatric Genomics (CG-3) ................................................................................... 110
Adult Genetic and Genomic Disorders (CG-4) ........................................................ 117
Genomics of Sporadic Cancers - (CG-5) ............................................................... 124
SECTION 7: SPECIALIST LEARNING FRAMEWORK: GENOMIC COUNSELLING129
Counselling and communication skills for Genetic and Genomic Counsellors ........ 132
Applied Genetics and Genomics in Clinical Care .................................................... 138
Advanced Genomic Counselling and Ethical Practice ............................................ 147
Applied Genomics and Bioinformatics in Advanced Clinical Care .......................... 154
SECTION 8: CONTRIBUTORS .............................................................................. 161
SECTION 9: APPENDICES ................................................................................... 163
APPENDIX 1: GLOSSARY ..................................................................................... 164
APPENDIX 2: GOOD SCIENTIFIC PRACTICE ...................................................... 167
APPENDIX 3: FURTHER INFORMATION.............................................................. 174
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SECTION 1: GENERAL INTRODUCTION
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READERSHIP
This Scientist Training Programme (STP) Learning Guide describes the STP work based
training programmes in the UK for:
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Academic and administrative staff, including external examiners within Higher
Education Institutions (HEIs)
Trainees, host departments and managers of services that employ healthcare
science staff, including those in public health and in blood transfusion services
Work-based trainers, including all those involved in supervising, mentoring,
coordinating, assessing and delivering STP education and training
Local Education and Training Boards (LETBs) and all healthcare science education
and training commissioning organisations in the UK
Patients and the public
National School of Healthcare Science MSc accreditation panels
A glossary of terms used is provided in the Appendices.
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Introduction
1.1 Scientist Training Programme (STP) Overview
1. Healthcare science (HCS) involves the application of science, technology, engineering
and mathematics to health. Good Scientific Practice (GSP) (Appendix 2) sets out the
principles and values on which education and training for healthcare science are
founded. It makes explicit the professional standards of behaviour and practice that
must be achieved and maintained in the delivery of work activities and clinical care for
all those who work in HCS, the public and healthcare providers.
2. GSP and the Education and Training Standards of the Health and Care Professions
Council (HCPC) are the basis for all MSC training curricula that contextualise the
Standards of Proficiency set down by the HCPC in a way that is accessible to the
profession and the public.
3. The HCS workforce and services have traditionally been grouped into three broad
areas called divisions, namely: Life Sciences/Clinical Laboratory Sciences, Physical
Sciences/Medical Physics and Biomedical Engineering and Physiological
Sciences/Clinical Physiology Sciences. Within each division there are a number of
healthcare science specialisms. With advances in scientific technology, changes to
the delivery of healthcare scientific services and the development of MSC, the
boundaries between these divisions have been shifting and a fourth division – Clinical
Bioinformatics has been identified. MSC recognises this important change and to date
has identified thirteen STP themes within healthcare science, which enables training
currently across a total of 32 HCS specialisms, with curricula for additional
specialisms still under development.
4. The STP is designed to provide healthcare scientist trainees with strong sciencebased, patient-centred clinical training in a specialist area of HCS. Initial rotational
training provides a broad base of knowledge, skills and experience across a group of
related cognate specialisms reflective of the evolving clinical and scientific changes and
requirements, followed by specialisation in a single HCS specialism.
5. During the STP programme, the scientist trainee is supernumerary but will contribute to
the clinical work of the department in which they are training to gain the required clinical
experience and competence.
6. The STP is an integrated training programme combining academic study leading to the
award of a specifically commissioned MSc in Clinical Science and a work based
training programme. Completion of both will lead to the award of a Certificate of
Completion of the Scientist Training Programme (CCSTP) by the National School of
Healthcare Science (NSHCS). Graduates will then receive a Certificate of Achievement
from the Academy for Healthcare Science (AHCS) for a Certificate of Attainment and
will then be eligible to apply to the Health and Care Professions Council (HCPC) for
registration as a Clinical Scientist.
7. The MSc Clinical Science Learning Outcomes and indicative content and the
associated work based learning outcomes can be found by following this link:
www.networks.nhs.uk/nhs-networks/msc-framework-curricula. Further details of the
MSc in Clinical Science can be found in the student handbook from the university with
which each trainee is registered.
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8. This introduction to work based learning provides an overview of the work based
training programme and guidance provided by the NSHCS for users of the online
learning and assessment tool (OLAT) and e-learning portfolio. All trainees and trainers
will have access to the OLAT throughout their training.
9. All STP trainees will be registered with the NSHCS for the duration of their training and
will be allocated a National Science Training Number (NSTN). The NSHCS, working
through its Themed Boards, provides oversight and coordination of the STP,
communicates with trainees and trainers with respect to national policy and events,
liaises with the work based trainers, host employers and the academic providers and
reviews progress on assessments and trainee performance, including OLAT/Structured
Final Assessment (SFA) and quality assurance of the workplace training environment.
The School has an overall responsibility to provide confidential reports in accordance
with agreed governance and oversight arrangements.
10.The work based training programme has four components, each underpinned by the
professional practice curriculum:
• induction
• rotational training
• elective training
• specialist training
11.It is anticipated that trainees will have a brief induction period in their host employing
organisation prior to commencing the introduction to their MSc in Clinical Science. As
the induction period may be up to 6 weeks in some departments, this time should be
used to begin rotational training as well. The subsequent initial academic period is
specifically designed to give an overview of basic science and an introduction to
aspects of professional practice relevant to HCS and the STP rotational training. The
duration of this first university session will vary, depending on the MSc degree
undertaken.
12.Details of the work based assessment programme can be found in Section 3 of this
guide and also by logging on to the OLAT. Details of the assessment programme for
the MSc in Clinical Science will usually be published in the student handbook
provided by each university.
A broad overview of the STP is shown in the diagram overleaf.
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Modernising Scientific Careers: Scientist Training Programme (STP):
Diagrammatic representation of employment-based, pre-registration, three-year
NHS commissioned education and training programme
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1.2 Outcomes of the Work Based STP
13. On successful completion of the work based element of the STP, trainees will have
gained clinical and specialist expertise in a specific HCS specialism, underpinned by
broader knowledge and experience within a HCS division or theme. They will
undertake complex scientific and clinical roles, defining and choosing investigative and
clinical options and making key judgements about complex facts and clinical
situations. Many will work directly with patients and all will have an impact on patient
care and outcomes. They will be involved in innovation and improvement, research
and development and education and training. Some will pursue explicit academic
career pathways, which combine clinical practice and academic activity in research,
innovation and education.
On successful completion of the work-based training programme that forms part of the
MSC STP, trainees will possess the essential knowledge, skills, experience and
attributes required for their role and should demonstrate:
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a systematic understanding of clinical and scientific knowledge and a critical
awareness of current problems, future developments, research and innovation in
health and HCS practice, much of which is at, or informed by, the forefront of their
professional practice in a healthcare environment
clinical and scientific practice that applies knowledge, skills and experience in a
healthcare setting, places the patient and the public at the centre of care, prioritising
patient safety and dignity and reflecting NHS/health service values and the NHS
Constitution
clinical, scientific and professional practice that meets the professional standards
defined by GSP and the regulator (HCPC)
personal qualities that encompass self-management, self-awareness, acting with
integrity and the ability to take responsibility for self-directed learning, reflection and
action planning
the ability to analyse and solve problems, define and choose investigative and
scientific and/or clinical options, as well as to make key judgements about complex
facts in a range of situations
the ability to deal with complex issues both systematically and creatively, make
sound judgements in the absence of complete data and communicate their
conclusions clearly to specialist and non-specialist audiences, including patients
and the public
the ability to be independent, self-directed learners demonstrating originality in
tackling and solving problems and acting autonomously in planning and
implementing tasks at a professional level
a comprehensive understanding of the strengths, weaknesses and opportunities for
further development of healthcare and HCS as applicable to their own clinical
practice, research, innovation and service development, which either directly or
indirectly leads to improvements in clinical outcomes and scientific practice
conceptual understanding and advanced scholarship in their specialism that
enables the graduate to critically evaluate current research and innovation
methodologies and develop critiques of them, and, where appropriate, propose new
research questions and hypotheses
scientific and clinical leadership based on the continual advancement of their
knowledge, skills and understanding through the independent learning required for
continuing professional development
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14. Once registered as a Clinical Scientist, a range of career development options will be
available, including competitive entry into Higher Specialist Scientist Training (HSST).
Alternatively, others may choose to undertake further career development in post
through a structured programme of continuing professional development (CPD),
provided through Accredited Scientific Practice1, or pursue a clinical academic career2.
Clinical Scientists who successfully complete HSST, or who can demonstrate
equivalence to its outcomes, will be eligible to compete for available Consultant
Clinical Scientist posts.
1.3 Key Components of Work Based Training in STP
The trainee
15.The trainee is at the centre of the STP, supported on one hand by the national
oversight role taken by the NSHCS, working closely with local quality monitoring and
performance processes currently undertaken by HEE Local Education and Training
Boards and on the other by the day-to-day delivery of training in the workplace,
facilitated by the underpinning and integrated MSC in Clinical Science programme. This
guide contains important information that will help the trainee understand how the work
based programme operates and its key elements.
16.At the core of successful work based training is appropriate educational supervision,
facilitation and feedback. Each trainee will be allocated to a clinical training supervisor
or training officer3 from within the employing host department. Trainees should ensure
that a planned schedule of meetings with their training officer is agreed early in training,
commencing with a meeting during the first week. Conversations between trainees and
trainers are confidential, unless patient safety is at risk. When the trainee is following a
rotational module, a trainer from the host department will act as their main contact while
they are away from their host department.
17.The local training departments, supported by the NSHCS working with others, are
responsible for ensuring that trainees have access to training opportunities to enable
the achievement of the learning outcomes of the STP. In return, trainees are expected
to take responsibility for:
• ensuring that they fulfil their obligations to their employer and to patients (especially
with regard to patient safety and confidentiality) as healthcare professionals
• engaging as active adult learners by initiating work based assessments, contributing
to learning activities, taking into account feedback received from their trainers and
assessors and giving considered and constructive feedback on their experience of
their training
• meeting the requirements of the academic MSc Clinical Science programme
18.Critical reflection on progress and performance is an integral part of both the STP and
of being a professional. Trainees should therefore regularly critically reflect on their
1
https://www.networks.nhs.uk/nhs-networks/msc-framework-curricula/accredited-scientific-practice/about-accreditedscientific-practice
2
https://www.hee.nhs.uk/our-work/developing-our-workforce/clinical-academic-careers
3
For the purposes of this document ‘training officer’ has be used; however, the title may vary between departments and
may be subject to a title change in England as part of developments for the whole of the professional healthcare
workforce. In essence, this is the person in the host department who is responsible for the training of each trainee for the
duration of the three years.
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progress and performance, enabling them to develop skills in self-evaluation and action
planning.
1.4 Host Training Departments
19.The third key component for successful training in the STP is the employing host
department and other service units facilitating work based training. The success of the
training and the trainee experience requires the commitment and enthusiasm of those
in the work base who oversee and provide the training.
20.Host departments should therefore ensure that they are fully familiar with the four
components of the work based training programme, namely: induction, rotational,
elective and specialist training, the underpinning professional practice curriculum and
should be aware of how the academic MSc in Clinical Science degree integrates with
work based training.
21.All trainees must have a designated training officer who will have responsibility for:
 provision of support, guidance and mentoring for the duration of the programme, in
the host department and related training environments
 provision of a timetable that enables an appropriate balance of work and learning
for the trainee
 ensuring adequate support during periods of training outside the host department
 ensuring that the programme of work based assessment is understood and that its
outcomes for individual trainees is documented through the use of the OLAT
 ensuring that the e-learning portfolio is discussed with the trainee and that there is
clarity and agreement about its use
 ensuring that clinical practice is well supervised for the safety of patients and the
trainee, so that the acquisition of clinical competence is facilitated
 ensuring that other contributors to the assessment process are fully aware of the
requirements and use of the OLAT
Organisation of the training programme
22. The host department is responsible for organising the training programme for each
of its trainees. This may involve liaising with other departments to facilitate
necessary work based learning and other contributors to the associated assessment
requirements. While the NSHCS will provide support, host departments need to be
satisfied that they are providing a training environment of appropriate quality,
including appropriately trained staff and facilities. Furthermore, host departments are
required to engage in the quality assessment management process established by
the NSHCS and provide information as necessary to enable the NSHCS to fulfil this
critical function. Details of the NSHCS quality assessment management policy for
work based training provider departments can be found at www.nshcs.org.uk.
23. Induction
At the start of the STP training programme and of each new placement, trainees
should be provided with an induction programme explaining trust and departmental
arrangements. Initial work based induction in the host department should include an
overview of the:
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• hospital/healthcare setting and local policies, including health and safety,
confidentiality, data protection etc., relevant to the placement
• range of services provided by the department
• range of people who use the services provided by the department
• function, operation, routine and corrective maintenance requirements of equipment
appropriate to the section(s) of the department in which the trainee will be working
Moreover, the host department should ensure that the trainee has access to:
• host trust information technology (IT) systems, including the library and knowledge
service as necessary
• the Online Learning and Assessment Tool (OLAT) which is the electronic portfolio
that supports the STP programme
Induction should include an early discussion (within the first week) between the
trainee and their training officer so that the curriculum, assessment and placement
arrangements can be discussed. In addition, trainers should provide trainees with
copies of:
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Good Scientific Practice
the STP work based Learning Guide
the OLAT learning guide;
links to the NSHCS (see Section 3 for details of the role of the NSHCS in
relation to STP training)
24.Rotational training
During rotational training each trainee will undertake four rotations, including a
rotation in the area in which they will subsequently specialise. Trainees must
successfully achieve all of the learning outcomes in each rotation. Each rotational
placement should be of approximately 12 weeks duration. It is the responsibility of
the host department to organise the rotational programme and liaise with the trainers
in the rotational placement departments on the requirements of work based training
and supervision, in addition to use of the OLAT. The NSHCS and local MSC leads
will help to facilitate rotational placements for small specialisms or where there are
local issues in respect of access to particular training elements.
The host department is responsible for setting the timetable for each of the four
rotations, which will depend on local availability and may require some time to be
spent out with your locality to ensure that the learning outcomes can be achieved in
totality. In agreeing the rotational training, the host department will need to consider
the periods of time the trainee will be required to attend the university or undertake
academic activities for the MSc within the workplace.
The host department must be familiar with the content, delivery and assessment
programme of the MSc in Clinical Science that the trainee is undertaking at university
and ensure that departments where the trainee is placed for rotational placements
are also familiar with the expected outcomes of each period of training. They should
also be trained in the assessment methods. The training officer in the host
department should maintain contact with the trainee and should liaise with the person
taking overall responsibility for the trainee while they are undertaking the rotation.
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Supervision meetings between the training officer and the trainee should continue
while they are on their rotational placements.
25.Elective training
Each trainee must undertake an elective training period and successfully achieve all
of its learning outcomes. The host department should agree the timing and content of
the elective training period with the trainee and should then inform the NSHCS of the
plans for the elective by completing the appropriate form and submitting it to the
School. The aim of the elective is to facilitate a wider experience of healthcare and/or
the practice of healthcare science in a cultural and/or clinical setting that is different
from the usual training environment. This may involve healthcare or healthcare
science in a different area of the health service and may involve study abroad or
pursuit of a particular clinical or research interest. The elective period can be taken
any time during the specialist training period and may comprise a single period of 4–6
weeks or a series of shorter periods. It is important that the trainee is able to express
their preferences and be fully involved in arranging the elective period, since it is
designed to provide a broader experience for the trainee.
26.Specialist training
The host department will plan the timetable for specialist training. This will usually be
in a single HCS specialism (except for Gastrointestinal Physiological and Urodynamic
Science, which share modules in the specialist training period and Immunogenetics
and Histocompatibility, which share some specialist modules with Clinical
Immunology). Each trainee must successfully achieve all of the learning outcomes in
the specialist training modules, including, by the end of the training programme, all of
the professional practice learning outcomes. If the host department itself is unable to
provide the necessary work based training to enable the trainee to complete all of the
required learning outcomes, it will need to arrange training in other training
departments and environments.
27.Supervision
STP clinical and educational supervision should promote learning, reflective practice
and support the trainee to produce action plans to address identified learning needs.
It will need to ensure that the trainee learns specific skills and competencies, helping
them to develop self-sufficiency and self-awareness in the ongoing acquisition of
skills and knowledge. At every stage, patient safety must be paramount. Supervision
will require the provision of pastoral care for some trainees. Supervision may, at
times during the programme, be provided by other healthcare professionals outside
healthcare science who will be appropriately trained, e.g. medical colleagues.
The first supervision meeting should be set up during the first week of the training
programme. At this meeting the training officer should ensure that the trainee is
undertaking an induction programme that includes the hospital and department. It is
recommended that the following areas should be explored and agreement reached at
the first meeting with respect to the:
• expectations of the training officer and trainee
• responsibilities of the training officer and trainee
• boundaries between the training officer and trainee
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•
•
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•
•
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•
•
confidentiality
frequency and duration of planned supervision meetings
methods of communication and responsibility for arranging meetings
level of support and arrangements for communications between meetings
models of reflection and action planning
record keeping
content of the work based training programme
the approach to assessment and the use of the assessment tools and the online
system
• sources of help and support
1.5 National School of Healthcare Science (NSHCS) and the STP
28.The NSHCS provides a national coordinating and oversight function to support trainees
and host departments in the delivery of training. It is responsible for:
• national recruitment into STP, enabling a transparent and robust selection of the
very best science graduates
• providing national oversight of STP trainees throughout their training by managing
and monitoring their progress through the OLAT, supporting trainees in difficulty and
coordinating national structured assessments both during and at the end of STP
training
• evaluation of ongoing work based assessment outcomes through the OLAT,
enabling the School to benchmark training programme delivery for early
identification of programme issues that may need to be addressed and resolved and
reporting these as part of agreed MSC governance arrangements
• liaising with each HEI’s MSc Clinical Science programme director to ensure the
integration and coordination needed to deliver the academic and work based
programmes that form the STP, liaising with MSC leads and SHA leads on local
issues and problems and their resolution
• working closely with workplace training departments and providing support as
appropriate
• organising national ‘Train the Trainer’ programmes to ensure common standards of
delivery and content, whilst recommending ongoing training activities to support the
continuing professional development of work based trainers
Professional leads in each of the scientific divisions within the NSHCS will provide help
and support with respect to organising rotations and/or specialist training that might
require national coordination. To optimise the educational benefit and value of the
OLAT and the e-learning portfolio, professional leads will also work with and support
training departments in their use.
The School can be contacted on the following email: [email protected]
1.6 The Structure of the Learning Frameworks
29.The work based programme is divided into modules, with each module following a
standard format. The aim and scope of the module are set out, followed by a
description of the:
• Learning Outcomes – high-level descriptors of required achievements for module
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• Clinical Experiential Learning – the learning activities that will facilitate learning
and achievement of stated outcomes
• Competences – further, outcome-based statements for each Learning Outcome
• Knowledge and Understanding as applied to appropriate competences
All of the above are focused on service need, patient care/pathway and continuous service
improvement.
1.7 Assessment during Work Based Training
Trainee assessment
30.The work based assessment programme is designed to promote learning, skill
development and competence within the specialist healthcare context. Trainees will be
able to identify areas for development and improvement.
The assessment programme is designed to enable both trainee and trainer to obtain
regular feedback on progress and achievement. It aims to nurture the trainee by
providing professional educational support and encouraging critical reflection, in
addition to generating regular feedback about progression. The programme embeds
assessment tools to enable trainees to learn and develop, as well as to generate
evidence so that judgements about progression can be made and areas identified for
trainee improvement based on supportable evidence.
The work based education and training programme should offer a constructive
environment where a trainee understands that they are still developing. The
assessment tools are intended for use in this context. As part of each assessment the
work-base assessor will facilitate a discussion in which the trainee is encouraged to
reflect on their performance and identify their strengths and areas that could be
improved, setting an action plan to achieve that improvement.
31.The structure of the work based assessment programme
There are several distinct elements of the work-based assessment programme for all
trainees:
 assessment tools, see Table 1 overleaf
 competency log
 Online Learning and Assessment Tool (OLAT) which is an electronic portfolio
 exit assessment – Objective Structured Final Assessment (OSFA)
Assessment tools
32.
The assessment programme utilises a range of work based assessment tools,
designed to promote continuous assessment and generate feedback throughout
training. The assessment promotes student-centred feedback to enable the trainee
to gain skills in self-assessment. There is a requirement for each trainee to engage
with the assessment process and to complete a defined number and range of
assessments to successfully complete each module. These are set out in the
OLAT.
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Table 1: Summary of the STP Work Based Assessment Tools
Assessment
tool
Direct observation of
practical skills (DOPS)
Purpose
To assess a practical
skill or procedure, which
may include interaction
with a patient. Feedback
is generated, learning
needs identified and an
action plan generated.
Method
The assessor observes
a practical activity and
facilitates studentcentred feedback either
during or immediately
following the
observation. The trainee
then generates an
action plan.
Observed clinical
event (OCE)
Case-based discussion
(CbD)
Multisource feedback
(MSF)
To assess a clinical
encounter.
To assess the trainee’s
ability to apply their
knowledge and
understanding of an
aspect of an activity, for
example the underpinning
science, aspects of
professional practice.
The assessor observes a
clinical activity and
facilitates student-centred
feedback either during or
immediately following the
observation. The trainee
then generates an action
plan.
The assessor facilitates a
discussion with the
trainee about a clinical
case with which the
trainee has been
involved. This may
include a report, record,
result or an aspect of
professional practice
arising from the case.
Following the discussion
the trainee generates an
action plan.
To provide a sample of
attitudes and opinions of
colleagues on the
performance and
professional behaviour of
the trainee. It helps to
provide data for reflection on
performance and gives
useful feedback for selfevaluation.
Using an online system the
trainee gains feedback from
a range of people (8–10)
who work with them and the
trainee also rates his or her
self. On completion, the
report generated is reviewed
in a discussion between the
trainee and trainer and
using critical reflection an
action plan is generated by
the trainee.
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33.Competences
All trainees are required to provide evidence to demonstrate that they have
completed each competence, which should then, at the request of the trainee,
be signed off by a trainer. Trainees will gain competence at their own pace, but
in line with the overall delivery of the relevant modules. Each competence may
link directly to a specific learning outcome and some competences may be
linked to more than one learning outcome. Therefore successful completion
cannot be achieved until demonstrated for all learning outcomes. All of the
competences are contained within a competency log within the OLAT.
Completion of the competency log is essential for progression within the
programme and in order to exit from the programme. The expectation is that as
the trainee progresses the competency log will demonstrate an evidence base of
achievement.
34.Online Learning and Assessment Tool (OLAT)
The achievement of competences and all work based assessments are recorded
in the OLAT. The OLAT is customised for each specialism and contains all the
above assessment tools, as well as the full list of competences for each
programme and a reflective log.
The NSHCS will provide trainees with the information to allow them to register
on the OLAT at the start of their programme. As part of their registration they
must nominate their training officer, although others may contribute during the
total period of work-based training for the assessment process.
Short film clips that explain the principles of the assessment process and how to
use each of the assessment tools are available on the OLAT.
35.Objective Structured Final Assessment (OSFA)
At the end of training trainees will be assessed using an OSFA. This is a
performance-based assessment used to measure trainees across a number of
different standardised stations encompassing scientific, clinical and professional
practice. The NSHCS, in partnership with the professional bodies and supported
by the NSHCS Themed Boards, will design and deliver the OSFA and the
Academy for Healthcare Science will provide external quality assurance of it.
All trainees will have the opportunity to undertake an OSFA mid-programme to
provide formative experience of this assessment.
1.8 Quality Assurance and Quality Management
Quality assurance of work based training
36.All host and training departments are responsible for delivery of the work based
training quality standards detailed in the Learning and Development Agreement
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(LDA) agreed with and issued by HEE’s local education and training boards. All
host and training departments providing training for trainees on the STP must
also be MSC approved and accredited.
37.The NSHCS provides oversight of the quality management and quality control of
STP work based training environments through its accreditation programme of
work based training.4
38.The NSHCS works in partnership with the professional bodies through its
Themed Boards and HEE’s local training boards to deliver a robust Quality
Assessment Management (QAM) programme for the work based education and
training programme. This QAM programme is UK-wide and independent from the
direct delivery of education and training. The purposes of the QAM programme
are to:
 ensure all STP training environments are accredited to deliver work based
training
 ensure that all training settings are working to the agreed standards
 create an open and transparent culture where issues and concerns can be
raised, investigated and resolved
 ensure that trainees receive a high-quality educational experience wherever
their training takes place
 identify and share examples of good practice
 provide evidence of the quality of work based education and training
environments to those who regulate and register the profession
 provide evidence of the high standard of work based education and training,
and assurance that these standards are robustly managed
39.Details of the quality management approach are available from the NSHCS. In
summary, the quality framework includes the following:
• Receipt, analysis, review and response with respect to:
– annual self-assessment progress reports from each work base
– trainee feedback questionnaires
– assessment progress reports
– ad hoc reporting of exceptions or changes to programmes
– individual work based education and training timetables for each trainee
• A mechanism for receiving and reviewing reports with respect to the STP
programme from trainees, trainers, patients or other stakeholders.
• Visit programme, including:
– a five-year rolling visit programme to each work base
– ad hoc visits to departments as required
40.The NSHCS monitors the progress of each trainee and provides support for
trainees in difficulty. Staff in the NSHCS also regularly review the STP
programmes using information from the OLAT and other sources through the
Themed Boards.
41.These quality assurance processes do not absolve the training provider from
responsibility for continuously managing and maintaining the quality of its own
4
http://www.nshcs.org.uk/for-trainees/accreditation/accreditation-of-work-place-providers
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provision. Local training departments are responsible for ongoing quality control
and local education providers should therefore ensure that a high-quality
education and training environment is maintained.
42.The following sections of this Learning Guide include an overview of the STP
work based programme for the specialisms within this theme. This is followed by
the Learning Frameworks for the Rotational, Elective, Specialist and Professional
Practice components of the programme.
Additional information can be found in the Appendices.
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SECTION 2: PROGRAMME OVERVIEW
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STP
WORK-BASED
GENOMICS
TRAINING
PROGRAMME
IN
The diagram below provides an overview of the programme each trainee in
Genomics will follow.
Modernising Scientific Careers: Scientist Training Programme (STP):
Diagrammatic representation of employment-based, pre-registration, threeyear NHS-commissioned education and training programme
PROFESSIONAL PRACTICE
This module spans the whole of the three-year training programme, underpinning
both work based training and the MSc in Clinical Science.
INDUCTION COMPONENT
At the start of the training programme and of each new placement, all trainees will
complete an induction programme.
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ROTATIONAL COMPONENT: GENOMICS
Trainees must successfully complete the rotations shown below.
Rotation A (GC-1)
Genetics, Genomics and Molecular Science
Rotation B (CG-1)
Introduction to Clinical Bioinformatics and Genetics
Trainees must choose TWO further modules from the rotations listed below.
Rotation C/D (CB-1)
Rotation C/D (HT-1)
Rotation C/D (CI-1)
Rotation C/D (HP-1)
Rotation C/D (CP-1)
Rotation C/D (RS-1)
Clinical Biochemistry: Investigation of Major Organ
Function
Introduction to Haematology and Transfusion Science
Immunity and the Principles and Practice of Clinical
Immunology
Introduction to the Principles and Practice of Histology
Principles and Practice of Cervical Cytology and
Diagnostic Cytopathology
Principles and Practice of Reproductive Science and
Diagnostic Semen Analysis
Duration: Each rotation should be of approximately 12 weeks duration.
Order: It is expected that the first rotation completed will be Genomics
ELECTIVE COMPONENT
The elective period can be taken any time during the specialist training. It may
comprise a single 4 to 6 week elective or a series of shorter periods of elective
training.
SPECIALIST COMPONENT: GENOMICS
Module 1 (CG-2)
Prenatal Genomics
Module 2 (CG-3)
Paediatric Genomics
Module 3 (CG-4)
Adult Genetic and Genomic Disorders
Module 4 (CG-5)
Genomics of Sporadic Cancers
Duration: The work-based component of the four specialist modules should be
completed during the specialist training period. The work-based component of the
modules can run in parallel in order to use the time and clinical contacts to best
advantage.
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STP WORK BASED TRAINING PROGRAMME IN GENOMIC
COUNSELLING
The diagram below provides an overview of the programme each trainee in Genomic
Counselling will follow.
Modernising Scientific Careers: Scientist Training Programme (STP):
Diagrammatic representation of employment-based, pre-registration, threeyear NHS-commissioned education and training programme
PROFESSIONAL PRACTICE
This module spans the whole of the three-year training programme, underpinning
both work based training and the MSc in Clinical Science.
INDUCTION COMPONENT
At the start of the training programme and of each new placement, all trainees will
complete an induction programme.
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ROTATIONAL COMPONENT: GENOMIC COUNSELLING
Trainees must successfully complete the rotations shown below.
Rotation B (CG-1)
Principles and Practice of Genetic and Genomic
Counselling
Genetics and Molecular Science
Rotation C (BF-1)
Introduction to Clinical Bioinformatics and Genetics
Rotation A (GC-1)
Trainees must choose one further module from the rotations listed below.
Rotation D (CB-1)
Investigation of Major Organ Function
Rotation D (HP-1)
Introduction to the Principles and Practice of Histology
Rotation D (RS-1)
Principles and Practice of Reproductive Science and
Diagnostic Semen Analysis
Duration: Each rotation should be of approximately 12 weeks duration.
Order: It is expected that the first rotation completed will be Principles and Practice
of Genetic and Genomic Counselling
ELECTIVE COMPONENT
The elective period can be taken any time during the specialist training. It may
comprise a single 4 to 6 week elective or a series of shorter periods of elective
training.
SPECIALIST COMPONENT: GENOMIC COUNSELLING
Module 1 (GC-2)
Module 2 (GC-3)
Module 3 (GC-4)
Module 4 (GC-5)
Counselling and communication skills for Genetic
Counsellors
Applied Genetics and Genomics in Clinical Care
Advanced Counselling and Ethical Practice for
Genetic Counsellors
Applied Genomics and Bioinformatics in Clinical
Care
Duration: The work-based component of the four specialist modules should be
completed during the specialist training period. The work-based component of the
modules can run in parallel in order to use the time and clinical contacts to best
advantage.
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Within this learning guide, examples of commercially available software are provided
to illustrate the learning outcome/competence. Please note these examples are not
exhaustive and other appropriate software can be used. Any commercially available
software included does not imply that it is recommended for use by the authors.
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SECTION 3: ROTATIONAL LEARNING FRAMEWORKS
THE FOLLOWING PAGES IN THIS SECTION CONTAIN DETAILS OF ALL OF THE MODULES THAT ARE
AVAILABLE TO TRAINEES WITHIN THE ROTATIONAL PROGRAMME.
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STP Learning Framework
This section describes the Learning Framework for the Rotational Component of work-based
learning covering the Learning Outcomes, Clinical Experiential Learning, Competence and
Applied Knowledge and Understanding. Each trainee is also expected to build on and apply the
knowledge, skills and experience gained from the MSc in Clinical Science.
DIVISION
THEME
SPECIALISM
Rotational Modules
Life Sciences
Genomic Sciences
Genomics and Genomic Counselling
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MODULE
TITLE
AIM
SCOPE
Genetics, Genomics and Molecular Science
(CG-1)
COMPONENT
Rotation
This module will provide the trainee with an introduction to human genetics, genomics and molecular science.
They will understand the organisation and delivery of a genetics laboratory service. They will perform some
common methods used in genetics and genomics and gain an understanding of the interpretation of patient
results in a variety of clinical settings.
The investigation, interpretation and reporting of chromosomal abnormalities and molecular disease, using the
correct sampling and laboratory techniques, including the application of principles of quality control and the
use of IT systems.
LEARNING OUTCOMES
On successful completion of this module the trainee will be able to:
1. Observe and reflect on the patient pathway from sample receipt to issuing of the clinical reports for a range of genetic
referrals.
2. Observe and reflect on preparation of samples for genetic analysis in current use.
3. Apply the correct genetic nomenclature to genetic alteration, including International System for Chromosome Nomenclature
(ISCN) and Human Genome Variation Society (HGVS) nomenclature.
4. Identify the appropriate testing strategy for a range of referral reasons.
5. Apply the principles of internal quality control and external quality assessment and draw conclusions about assay
performance.
6. Assist with the interpretation and reporting of laboratory results in the context of named genetic disorders.
7. Participate in activities that involve working in partnership with other clinical specialisms in the investigation of patients
referred for genetic disorders.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:


Attend multidisciplinary team meetings at which the results of genetic and genomic investigations are discussed and reflect
on discussions and the impact of multidisciplinary working on patient treatment and management, in addition to the
partnership between Genetics and other clinical specialisms in the investigation of genetic and genomic disorders functions
in the patient pathway.
Attend specialist genetics clinics and review/report on the process, patient engagement and experience in connection with
the work of these clinics.
LABORATORY EXPERIENTIAL LEARNING


Observe cell culture and chromosome preparation techniques and reflect on their importance in the investigation process
Gain experience of each of the following and personally reflect on the importance, application and effect on patient
management:
o Investigation of chromosomal abnormality, the correct sampling technique, relevant quality parameters and the
correct use of nomenclature
o Investigation of the molecular basis of disease, the correct sampling technique, relevant quality parameters and the
correct use of nomenclature
o Interpretation and reporting of laboratory results in the context of named genetic disorders
All of these experiences should be recorded in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of each competence for each linked learning outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
1,2,3,4
COMPETENCES
Apply infection control risks in
accordance with departmental
protocols.
KNOWLEDGE AND UNDERSTANDING


1,2,3,4
Minimise risks and hazards in
compliance with health and safety
policies.




1,3,5,7
Critically reflect on referral patterns
for genetic investigation following
standard laboratory practices
including sample receipt.










Protocols and requirements for hygiene and infection control related to
the relevant range of investigations, including preparation, conduct and
completion of investigation.
Protocol for hand washing and how effective hand washing contributes to
control of infection.
The relevant health and safety regulations for laboratory and clinical
investigations.
The specific health and safety regulations for the specialism, type of
specimen/sample and investigation.
The potential hazards and risks and the actions to be taken to minimise
these.
Responsibilities and scope of practice for laboratory personnel involved
in performing investigations and reporting those investigations to users.
Minimum data set required for identification of samples and the
importance of ensuring that this is complete, correct and appropriate.
Factors affecting sample integrity and appropriate corrective action.
Procedures for handling samples which may contain category 2, 3, and 4
pathogens.
Use of laboratory and hospital information systems to identify and record
patient demographics, clinical details and relevant laboratory results.
The importance of maintaining correct and unique labelling, including
transfer of labels throughout the preparation.
Process documentation relevant to sample preparation and its
importance.
Retention policy for diagnostic materials and records of analysis.
Ethical guidelines for testing and storage of diagnostic materials.
Common reasons for referral of genetic investigations.
Factors to be considered to determine which processing pipeline is the
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KEY
LEARNING
OUTCOMES
1,2,3,4
COMPETENCES
Observe and assist with the
preparation of samples for genetic
testing.
KNOWLEDGE AND UNDERSTANDING








1
Perform a basic chromosome
analysis on a minimum of three
cases that demonstrate different
chromosomal syndromes or
anomalies.
2
Perform a basic dosage analysis
using chromosomal microarray.











most appropriate in order to generate a robust result for the patients.
The purpose, process, capabilities and limitations of cell culture
procedures and associated equipment.
Cell culture, slide making and chromosome preparation techniques (Gbanding) and their importance in the investigation process.
The purpose, process, capabilities and limitations of nucleic acid
extraction procedures and associated equipment.
Relevant protocols and their application, including health and safety
considerations.
Requirements for containment levels to maintain the integrity of the
sample and to protect the member of staff.
The quality and quantity of DNA/RNA required for each test to be
performed.
Factors affecting the quality of extractions.
The range and requirements for records and documentation associated
with extractions.
Basic chromosome identification.
Karyotype construction.
G-banding.
Numerical and structural anomalies and normal variation.
Relationship of basic chromosomal anomalies to clinical features in
patients.
Correct ISCN nomenclature.
Correct nomenclature for description of any copy number changes.
Principles and applications of relevant methods and techniques.
The principles of chromosomal microarray.
The significance of sensitivity and limitations of technique.
Relevant current quality control procedures and characteristics of
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING

3
Observe and assist with the range
of laboratory methods and their
application to generate genetic test
results for patients.







4
5
Perform a basic molecular analysis
on three cases demonstrating
common genetic condition.
Apply internal quality control (IQC)
and external quality assessment












substandard results.
Factors affecting the integrity of samples and reagents, and
contamination.
The nature and effect of possible artefact.
Use of appropriate analytical software and clinically interpret findings.
Principles and applications of relevant methods and techniques.
The principles of PCR and sequence methods, including the significance
of contamination, sensitivity and associated hazards and risks.
The principles of chromosomal microarray and other dosage techniques,
including the significance of contamination, sensitivity and associated
hazards and risks.
Relevant internal quality control procedures and characteristics of
substandard reactions.
Factors affecting the integrity of samples and reagents and relevant
sensitivities to conditions of cold, heat and light.
Principles of electrophoresis of nucleic acids.
Principles of radioactive and fluorescent image detection.
Principles of mutation detection and DNA sequencing.
Limitations and sensitivity of each test method.
The nature and effect of possible artefacts.
Analysis of results following standard laboratory procedures.
The clinical background and molecular pathology of the disorder being
investigated.
The range of tests available for the individual or the family.
Significance of previous results in relation to the current sample.
Relevant professional guidelines and correct interpretation.
The importance of IQC during the entire testing process.
Importance of participating in EQA.
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KEY
LEARNING
OUTCOMES
COMPETENCES
(EQA) methods used in genetics.
6
Use software for tasks related to
genetic analysis. To include a
general introduction to
bioinformatics.
KNOWLEDGE AND UNDERSTANDING






6,7
Support the preparation of reports
and the reporting process for
patients being investigated for
genetic disorders.






The development and application of national guidance.
Validation and verification of analytical processes and procedures.
Requirements for UKAS accreditation and ISO15189.
Access, use and limitations of genome and mutation databases.
Importance of maintaining long-term records to inform management of
heritable genetic disorders in future generations and genomic changes
within an individual associated with a clinical disorder.
Limits and performance characteristics of each test, including
instrumentation and software packages for data analysis.
Range of reporting formats and options.
Relevant professional guidelines for reporting.
Policy for authorisation and disclosure of results and the need for
confidentiality and information governance.
Factors involved in evaluation of clinical risk to the patient and their
family.
Procedures for issuing written results, verbal results or for faxing.
Patterns of inheritance (Mendelian and non-Mendelian), including
imprinting.
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MODULE
TITLE
AIM
SCOPE
Principles and Practice of Genetic and
Genomic Counselling (GC-1)
COMPONENT Rotation
This module will provide the trainee with an introduction to the scope and diversity of genetic and genomic
counselling practice and the skills required for safe, high quality patient care. They will develop understanding
and insight into the scope and diversity of genetic counselling practice, the challenges faced by families affected
by genetic conditions, skills in calculating, interpreting and communicating risk and other information and insight
into the approaches used to achieve good patient outcomes in genetic counselling practice.
The trainee will develop an understanding of the role of the Genetic Counsellor in practice and the skills
needed to deliver high quality genomic healthcare.
In their work-based learning they will develop the foundation skills to deliver safe high quality genetic
counselling and will demonstrate their ability to manage a genetic and genomic counselling session safely,
establish the patient agenda, medical and family history, as well as effectively assess and communicate risk
and other relevant information to individuals. They will also develop an awareness of the contribution of
reflection and supervision to safe genetic and genomic counselling practice.
LEARNING OUTCOMES
On successful completion of this module the trainee will be able to:
1. Critically reflect on the roles of multidisciplinary team members and the range of genetic and genomic practice, having attended
genetic and multidisciplinary clinics.
2. Observe and assist during genetic and genomic counselling sessions under direct supervision.
3. Gather a comprehensive medical, family and obstetric history and, under direct supervision, assess and communicate the
genetic risk.
4. Following critical reflection on the role of the Genetic Counsellor in clinical practice, develop an action plan to inform their future
practice.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:




Attend multidisciplinary clinical meetings where patients presenting to clinical genetics services are discussed and reflect on
the range of referrals received, the organisation of care and potential clinical pathways.
Assist in preparing for a genetic or genomic counselling session by performing the following activities:
o Assessing referral
o Retrieving relevant information
o Drawing a three generation family tree
Observe a range of genetic counselling sessions covering a disparate range of conditions e.g. prenatal, dysmorphic child,
cancer risk assessment, pre-symptomatic testing. Reflect on the range of counselling approaches used, the nature of
information given and the skills used by the clinician.
Arrange a placement in a special school, or other community setting such as a children’s hospice, and reflect on the medical,
educational and social care available to support individuals and/or families when one or more family members is affected by
a disease or disability.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of every competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside competences defined in this module.
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KEY
LEARNING
OUTCOMES
1
1
1
1
2
2
COMPETENCES
Critically reflect on the role of the
genetic counsellor within genetic
services and patient pathways
through observing consultations
involving an adult for the common
types of referrals to a clinical
genetics service.
Critically reflect on the role of the
genetic counsellor within genetic
services and patient pathways
through observing consultations
involving a child for the common
types of referrals to a clinical
genetics service.
Critically reflect on the roles of the
professional groups involved in
delivering an NHS clinical genetics
service.
Appraise how clinical genetics and
other health professionals work
together in multidisciplinary teams.
Identify the individual’s agenda in
five observed genetic counselling
sessions.
Identify the individual’s psychosocial
concerns in five observed genetic
counselling sessions.
KNOWLEDGE AND UNDERSTANDING





The role of the genetic counsellor within genetic services and patient
pathways.
The range of patient pathways for an adult patient (e.g. prenatal, cancer
genetics, cardio-genetic, neuromuscular, neurological, connective tissue
disorders).
How the clinical genetic service fits within the patient pathway for an
adult patient.
The range of patient pathways for a paediatric patient (e.g. general
paediatric, chromosomal anomalies etc.)
How the clinical genetics service fits within the patient pathway for a
paediatric patient.






The role of laboratory staff in an NHS clinical genetics service.
The role of clinical geneticists in an NHS clinical genetics service.
The role of genetic counsellors in an NHS clinical genetics service.
The role of administrative staff in an NHS clinical genetics service.
Composition, role and working-practice of multidisciplinary teams.
Inputs and outputs from these multidisciplinary teams.


Role and process of active listening.
Importance for establishing agenda.




Theories of psychosocial adjustment.
Responses to loss (bereavement, loss of imagined future).
Responses to uncertainty.
Family life cycle.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING




Impact of illness/disability on the family at different stages of the family
life cycle.
Impact on the family when one or more family members have complex
needs.
Principles of patient centred counselling.
Role and process of active listening.
Importance for establishing agenda.




Principles of patient centred counselling.
Role and process of active listening.
Importance for establishing agenda.
Role in ascertaining medical and family history.


Determining what constitutes non-verbal communication.
The possible meaning behind different modes of non-verbal
communication within the context of a genetic counselling consultation.


Medical history information needed for genetic risk assessment of
different genetic conditions.
Obstetric history information needed for genetic risk assessment of
different genetic conditions.



Questions to ask when obtaining a family history.
Pedigree symbols.
Drawing a 3-generation family history.

2
2
2
3
3
Observe a consultation involving an
experienced genetic counsellor and
(with permission) talk to the patient
about their experience. Reflect on
the possible differences between
the clinician’s expectations of the
appointment versus the patient’s
experience
Actively listen whilst establishing a
relationship with the patient in a
genetic counselling context in order
to establish the patient agenda
under direct supervision.
Reflect on the meaning of a client’s
non-verbal communication in five
observed genetic counselling
sessions.
Gather comprehensive medical
histories (including an obstetric
history where relevant) relevant to
the clinical question under direct
supervision.
Gather a comprehensive 3generation family history relevant to
the clinical question and construct a
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KEY
LEARNING
OUTCOMES
3
3
3
4
4
COMPETENCES
clear 3-generation family tree under
direct supervision.
Interpret the correct genetic risk of a
condition for specified family
members based on the information
collected.
Identify strategies used by
experienced genetic counsellors to
convey risk and other genetic
information in five observed
genetic counselling sessions.
Accurately communicate risk under
direct supervision.
Use a model of reflective practice to
describe what happened and what
could have been done differently to
achieve a better outcome for the
patient in three observed genetic
counselling sessions.
Use a model of reflective practice to
describe what happened and what
could have been done differently to
achieve a better outcome for the
patient in a genetic counselling
session that you assisted in under
direct supervision.
KNOWLEDGE AND UNDERSTANDING





Modes of inheritance and calculation of recurrence risks for:
o Autosomal dominant
o Autosomal recessive
o X-linked recessive
Calculation of recurrence risk for autosomal dominant, autosomal
recessive and X-linked recessive conditions.
Online databases and courses of information for establishing the
pathogenicity of genetic variants.
Counselling tools to convey risk in terms the individual patient will
understand.
Strategies to convey risk and other genetic information relevant to the
client’s agenda.
Different models of reflective practice.
Strengths and weaknesses of each model.
Counselling theories.
Genetic counselling practice.




Different models of reflective practice.
Strengths and weaknesses of each model.
Counselling theories.
Genetic counselling practice.




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MODULE
TITLE
AIM
SCOPE
Introduction to Clinical Bioinformatics and
Genetics (CBI-1)
COMPONENT Rotation
This module will provide the trainee with an introduction to clinical bioinformatics and genetics. They will
understand the aims and operation of a genetics laboratory service. They will understand the role of
bioinformatics and the bioinformatician in supporting the laboratory service, and the effect of data and its
analysis on patient care.
On completion of this module the trainee will be able to apply standard bioinformatics tools and approaches to
the analysis of genes and proteins, and assess the effect of genetic variation in the context of the diagnosis,
management and care of patients and families with genetic conditions.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1. Perform analysis on DNA data and protein sequence data to infer function.
2. Perform sequence alignment tasks followed by clustering and phylogeny.
3. Select and apply appropriate bioinformatic tools and resources from a core subset to typical diagnostic laboratory cases,
contextualised to the scope and practice of a clinical genetics laboratory.
4. Compare major bioinformatics resources or pathogen typing and identification for clinical diagnostics and how their results can
be summarised and integrated with other lines of evidence to produce clinically valid reports.
5. Interpret evidence from bioinformatic tools and resources and integrate this into the sum of genetic information for the
interpretation and reporting of test results from patients.
6. Perform the recording of building or version numbers of resources used on a given date, including those of linked data sources,
and understand the clinical relevance of this data.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:




Observe a clinical consultation(s) where patients with genetic disorders meet with health professionals to discuss their
diagnosis and care, and reflect on the positive aspects of each consultation.
With permission, identify a patient or family with a genetic disorder and discuss the impact of that genetic disorder on the
quality of life of the patient and/or family with an appropriate clinical professional, and reflect on how this experience will
influence your future practice.
Attend multidisciplinary meetings at which the results of genetic investigations are discussed and reflect on the process, the
weighting placed on different types of data, and the effect on patients’ results and care pathway.
Gain experience of each of the following and personally reflect on the importance, application and effect on genetic services
and patient care:
o the scope and function of the genetics laboratory
o the requirements and implementation of bioinformatic analysis strategies
o investigation of genetic variants using in-silico techniques
o annotation of DNA and protein sequences
o use of standard protocols in analysis of genetic results
o recording of results and preparation of reports for clinical use.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence and knowledge and understanding each trainee must gain. Each competence is
linked to the relevant learning outcomes and trainees must demonstrate achievement of each competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional
practice competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
1, 2
COMPETENCES
Take a protein sequence and use
standard bioinformatic tools to
locate within a genome, annotate
and infer function.
KNOWLEDGE AND UNDERSTANDING







1, 2
Take a DNA sequence and use
standard bioinformatic tools to
locate within a genome, annotate
and infer function, including gene
prediction, transcription factor (TF)
analysis, splice-site boundaries
potential for copy number variants
(CNVs).











3
Use three clinical cases to


Theoretical basis of function prediction in bioinformatics.
Tools for protein function prediction based on sequence similarity.
Tools for protein function prediction based on conserved motifs and
patterns.
The use of gene ontology to annotate function.
The use of literature resources to support function prediction.
The processes of combining predictive tools to provide evidenced
protein function.
Best practice guidelines and quality assurance (QA; both internal
and external).
The genome sequence resources available.
The annotations provided by genome resources.
The different types of DNA sequence in databases – complete
genome, cDNA, expressed sequenced tags (ESTs), function noncoding sequences.
Tools for DNA sequence alignment, including those for matching
large genomic sequences.
Resources for non-coding functional genomic regions (databases of
transcription factor binding sites, CNVs etc.)
Resources for alternatively spliced genes.
Tools for exon prediction – sequence based.
Tools for exon prediction – signal based.
Tools for transcription factor (TF) prediction.
The use of literature resources to support function prediction.
The processes of combining predictive tools to provide evidenced
protein function.
Best practice guidelines and QA (both internal and external).
Application of bioinformatics tools within a clinical genetics service.
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KEY
LEARNING
OUTCOMES
2, 3
2
3, 4, 5
COMPETENCES
demonstrate the application of
bioinformatic tools to common
genetic scenarios.
Identify variation within genetic
sequence data captured from
various sources.
Reconstruct and interpret the
relationship between individual
sequences using phylogenetic
analysis.
Analyse variants using literature and
bioinformatic tools or resources to
predict consequence and determine
significance within patient care.
KNOWLEDGE AND UNDERSTANDING





Typical care pathways for patients with a genetic disorder.
Tools for single-nucleotide polymorphism (SNP) prediction.
The genome sequence resources available.
Potentials for errors in SNP prediction methods.
Validating SNP predictions.



Alignment and clustering algorithms.
Phylogenetic tree building.
How to interpret phylogenetic analysis.


The aims and operation of a genetics laboratory service.
The principal referral reasons that would indicate testing for common
genetic conditions.
Modes of inheritance.
The clinical and scientific basis for the repertoire of genomic testing
available to investigate the common range of clinical referrals.
The reasons for pathogen samples to be sent to hospital or
reference microbiology laboratories for sequencing.
The role of bioinformatics and the bioinformatician in supporting the
laboratory service in the context of clinical diagnosis, the effect of
data and its analysis on patient care.
How to search the literature for information on the consequences of
variation in genetic loci of the human genome or the pathogens
infecting a host.
Correct interpretation of the genetics literature on variation.
Location of resources relating to the consequences of variation
including antimicrobial resistance databases.
How to search variation databases for information on variants.








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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING





1, 2, 3, 4, 5, 6
Follow standard protocols or agreed
procedures for sequence annotation
and analysis.





6
Make accurate records of all work
carried out.





4, 5, 6
Communicate results in a way that
is useful to the clinical team,
highlighting their findings.




Correct application of interpretation tools.
Correct use of data from databases or interpretation tools.
Collation of data from different sources on variation consequences
to infer potential effects on patient care.
The influence of user interfaces on results.
The implications of the genomics investigations (including ethical,
legal and social implications) on the patient and patient care.
How to locate and follow local protocols.
How to identify applicable standard protocols for analysis made
available through professional genetics organisations.
How to identify standards within the hospital and public health
settings.
Ethical issues associated with patient consent.
Clinical and information technology (IT) governance rules for
analysis of patient data.
The reasons for keeping accurate records.
Minimum data sets for describing the analysis process.
Identify local and national guidelines for record keeping.
Applicable NHS or public health function requirements for record
keeping.
Provision of evidence that quality standard operating procedures
(SOPs) have been followed.
The location of relevant metadata within bioinformatic resources.
The information needs of clinical genetics and other healthcare
teams.
Local policies for clinical reporting and differences between centres.
Relevance and limitations of data from specific sources to the
case(s) of interest.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING


The operation of laboratory information systems for recording results
and generating reports.
The process for generation and validation of clinical reports.
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MODULE
TITLE
AIM
SCOPE
Clinical Biochemistry – Investigation of
Major Organ Function (CB-1)
COMPONENT
Rotation
This module will provide trainees with the knowledge and understanding of the normal physiology of the
major organs and the biochemical parameters in common use for the investigation and management of
major organ dysfunction. They will perform a selection of common methods used in the investigation of
major organ function and gain experience of the interpretation of patient results in a variety of clinical
settings.
Biochemical investigation, interpretation and reporting of major organ disease in the patient pathway, using
a range of laboratory and point-of-care techniques and including application of quality control principles
and use of relevant IT systems.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1. Interpret routine requests for clinical biochemistry investigations of major organ function in the correct clinical context and
process the specimens that accompany those requests.
2. Perform a range of laboratory and point-of-care techniques (POCTs) used in the workplace to investigate major organ function.
3. Apply the principles of internal quality control and external quality assessment and draw conclusions about assay performance.
4. Report the results of commonly performed clinical biochemistry investigations of major organ function.
5. Use laboratory IT systems for handling, processing and storage of patient data.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this rotation is:






Attend multidisciplinary review meetings at which biochemical results of major organ function are presented as part of the
clinical record. Reflect on these discussions and the impact for patient care and management.
Reflect on the partnership between clinical biochemistry and other clinical specialisms in the investigation of disorders of major
organs.
Review at least one biochemical investigation of major organ disease in the patient pathway, including the correct sampling
technique and the use and validity of reference range.
Review and discuss at least two examples of the interpretation and reporting of laboratory results in the context of common
clinical disorders.
Attend a clinical unit where POCT for major organ function is performed. Discuss the method(s) with trained users.
Demonstrate an understanding of the preparation of reports and the reporting process for patients being investigated for major
organ function by observing technical and clinical validation. Record case overviews observed and identify key factors that will
influence your own future practice.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence and knowledge and understanding each trainee must gain. Each competence is
linked to the relevant learning outcomes and trainees must demonstrate achievement of each competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
1
1,5
1,5
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
Identify the most appropriate test for at 
least two example clinical
presentations, e.g. diabetes, acute

coronary syndrome, acute kidney injury
etc.
Use computer software associated with 
the LIMS and laboratory equipment.
The application of common biochemical markers of major organ
function to a range of frequently encountered clinical disorders.
The repertoire, specimen requirements, storage, ordering, reference
ranges and turnaround times of the methods used to investigate
major organ function.
Request entry, result enquiry, result validation, rules base and
reporting procedures.
Receive, label and store routine clinical 
biochemistry samples.


Minimum data set required for identification of samples and the
importance of ensuring that this is complete and correct.
Factors affecting sample integrity and appropriate corrective action.
Types and implications of hazards and risks associated with handling
specimens and relevant control measures.
Procedures for handling samples which may contain category 2, 3
and 4 pathogens.
Safe laboratory practices, including principles of decontamination of
equipment and work areas.
Local and national health and safety policies and procedures and
their application.
Legal and ethical considerations and requirements in respect of
examination, selection of control material and disposal of specimens.
Relevant records, their importance and how to complete these
correctly.
Scientific basis of the following techniques: spectrophotometry,
osmometry, ion selective electrodes, enzymology, immunochemical
techniques, electrophoresis, chromatography and solid phase
chemistry.
The biological and statistical basis of biological variation, reference





2,3
Use automated instrumentation
(modular systems, elementary robotics
and automated immunoassay
analysers) in your training laboratory,
which incorporates the following
techniques:


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KEY
LEARNING
OUTCOMES
COMPETENCES





2,3
2,3
ion selective electrodes
spectrophotometry
immunoassay
enzymology
plus one other from:
• fluorimetry
• nephelometry/turbidimetry.
Use manual and semi-automated
techniques to specified standard
operating procedures, to include:
 spectrophotometry
 osmometers
 urine analysis (e.g. dipsticks or
pregnancy tests)
 HbA1c analysis.
Use one of the following POCT
methods/devices to specified quality
standards:
 blood gas analysers
 co-oximetry
 blood glucose meters.
Perform analysis of the following
analytes:
 albumin
 creatinine
 calcium
 bilirubin
 transaminases
KNOWLEDGE AND UNDERSTANDING






values and action limits.
Use of calibration and control materials.
The quality management process that ensures the correct location
and storage of documentation and specimens at each stage of the
process.
The design, operation and performance of automated analytical
platforms, including random access, modular, robotics etc.
Principles and practice of internal quality control and external quality
assessment.
Common analytical interferences caused by contamination,
interferences, age of sample etc.
Performance of analyses in accordance with appropriate standard
operating procedure.
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KEY
LEARNING
OUTCOMES
4,5
COMPETENCES
 troponin
 glucose
 sodium and potassium.
Produce reports using validated results
on common clinical biochemistry
investigations.
KNOWLEDGE AND UNDERSTANDING







2,3
Control infection risks in accordance
with departmental protocols.


2,3
Minimise risks and hazards in
compliance with health and safety
policies.



The preparation of reports and the reporting process for patients
being investigated for major organ function.
Essential information to be included in a report (CPA report,
standard).
The appropriate use of interpretive comments and limits of
responsibility in the authorisation and issue of reports.
Critical action limits that may require urgent action and how to
instigate such action.
Limits of responsibility in the authorisation and issue of interpretative
reports.
Clinical conditions that may require urgent action and how to
instigate such action.
Normal and abnormal results and their significance to clinical
question or condition.
Protocols and requirements for hygiene and infection control related
to the relevant range of investigations, including preparation, conduct
and completion of investigation.
Protocol for hand washing and how effective hand washing
contributes to control of infection.
The relevant health and safety regulations for laboratory and clinical
investigations.
The specific health and safety regulations for the specialism, type of
specimen/sample and investigation.
The potential hazards and risks and the actions to be taken to
minimise these.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING

Responsibilities and scope of practice of laboratory personnel
involved in performing investigations and reporting those
investigations to users.
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MODULE
TITLE
AIM
SCOPE
Immunity and the Principles and Practice of
Clinical Immunology (CI-1)
COMPONENT Rotation
This module will provide trainees with an introduction to the immune system and immune responses.
Trainees will understand the organisation and delivery of a clinical immunology laboratory service. They will
perform some common methods used in Clinical Immunology and gain an understanding of the interpretation
of patient results in a variety of clinical settings.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1. Interpret routine requests for common clinical immunology investigations in the correct clinical context and process the
specimens that accompany those requests.
2. Use laboratory IT systems for handling, processing and storage of patient data.
3. Perform a range of laboratory techniques used in the workplace in clinical immunology.
4. Report the results of commonly performed clinical immunology investigations of major organ function.
5. Apply the principles of internal quality control and external quality assessment and draw conclusions about assay performance.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:





Participate in review meetings at which results from patients with at least two of the following are reviewed. Discuss the review
process and outcomes in terms of the benefits of review for patient investigation and management.

Protein disorders

Autoimmune disease

Immunodeficiency

Allergy
Observe and discuss with your trainer the investigation of the immune response, correct sampling technique and the use and
validity of reference ranges.
Review and report on the role of the immune response in common clinical disorders where the immune system is dysfunctional.
Support the interpretation and reporting of laboratory results in the context of common clinical disorders where the immune
system is dysfunctional.
Present a report on the partnership between Clinical Immunology and other clinical specialisms in the investigation and
management of disorders of the immune system.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence and knowledge and understanding each trainee must gain. Each competence is
linked to the relevant learning outcomes and trainees must demonstrate achievement of each competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional
practice competences alongside the competences defined in this module.
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KEY
COMPETENCES
LEARNING
OUTCOMES
1,2
Identify the most appropriate test for
at least two example clinical
presentations.
KNOWLEDGE AND UNDERSTANDING



1,2
Receive, label and store of a wide
range of immunological specimens.










3,5
Select and apply appropriate control

The repertoire, specimen requirements, referral pattern and
storage, ordering, reference ranges and turnaround times of the
methods used in Clinical Immunology.
The major clinical users of the immunology service for protein tests,
autoantibody tests and allergy tests.
The range of investigative techniques used in Clinical Immunology
and their application.
Minimum data set required for identification of samples and the
importance of ensuring that this is complete and correct.
Factors affecting sample integrity and appropriate corrective action.
Procedures for handling samples which may contain category 2, 3
and 4 pathogens.
Types and implications of hazards and risks associated with
handling of specimens and relevant control measures.
The quality management process that ensures the correct location
and storage of documentation and specimens at each stage of
process.
Safe laboratory practices, including principles of decontamination of
equipment and work areas.
Local and national health and safety policies and procedures and
their application.
Relevant records, their importance and how to complete these
correctly.
Correct use of manual and computerised systems for generating
labels for the products and components.
Specimen preservation, distribution, separation, storage and
disposal procedures.
Selection and use of suitable and appropriate control materials.
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KEY
LEARNING
OUTCOMES
COMPETENCES
materials.
3,5
1,4,5
Use automated methods, techniques
and instrumentation to include at
least four of the following:
 protein analysis
 immunoassay
 nephelometry/turbidimetry
 electrophoresis
 immunofixation
 iso-electric focusing
 densitometry
 immunoblotting
 immunodiffusion
 immunofluorescence
 microscopy
 agglutination assays
 flow cytometry
 allergy testing.
Interpret laboratory data in light of
clinical details on patients with
common disorders where the immune
system is dysfunctional, including at
least two of the following:
 protein disorders
 autoimmune disorders
 immunodeficiency disorders
 basic allergy testing.
KNOWLEDGE AND UNDERSTANDING




Use and application of reagents for analysis.
Correct conditions and locations for storage of test reagents.
Capabilities and limitations of methods, techniques and equipment.
Use, care, monitoring, calibration and routine maintenance of
clinical immunology laboratory equipment to include (relevant to
automated methods available) from the following list:
 pipettes
 balances
 centrifuges
 refrigerators
 water baths
 incubators
 pH meters
 freezers
 radioactive counters,
 sample preparation units
 automated analysers.





Organisation and components of the immune system.
Immunoglobulins, complement and opsonins.
Inflammatory markers.
Ranges and values needed for interpretation of results.
Cellular components (lymphocytes; granulocytes;
monocytes/macrophages).
Humoral components (autoantibodies: the range of autoantibodies
and the role they play in autoimmune disease; immunoglobulins:
importance of their levels and their absence; complement:

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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING






importance of their levels and their absence).
Central molecules of the immune system (major histocompatibility
molecules class I & II; CD molecules/cell surface markers; receptor
molecules, recognition molecules; adhesion molecules; effector
molecules). Majority are used in conjunction with flow cytometry. It
will be important to have a basic knowledge of their use in a clinical
immunology laboratory and in which diseases their levels and
absence is crucial.
Antigen presentation.
Innate immune response (endothelial cells; neutrophils;
macrophages; natural killer cells; complement). Have a basic
working knowledge of which of the components of the innate
immune system routine assays can be usefully examined in a
clinical immunology laboratory and in which suspected key
diseases such assays are performed.
Adaptive immune response (antigen processing; dendritic cells; T
cell responses; B cell responses; primary and secondary
responses; vaccination/immunisation). Have a basic working
knowledge of which of the components of the adaptive immune
system routine assays can be usefully examined in a clinical
immunology laboratory and in which suspected key diseases such
assays are performed.
Outcome of immune responses (immunity/immunological memory;
direct and indirect functions of antibodies; incidental tissue damage;
hypersensitivity and allergy).
Causes and physiological basis of allergy caused by IgE
involvement. Have a good basic working knowledge of the major
assay performed in clinical immunology laboratories that aid the
diagnosis of suspected allergic reactions.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING

1,2,4
Produce basic interpretative reports
on immunological investigations.





1,3
Control infection risks in accordance
with departmental protocols.


1,3
Minimise risks and hazards in
compliance with health and safety
policies.




Hypersensitivity causes and physiological factors. Have a good
basic working knowledge of the major assays performed in a
clinical immunology laboratory that will aid in the diagnosis of
severe hypersensitivity reactions.
The information to be included in an interpretative report.
How to construct an interpretative report and the format required for
presentation.
Limits of responsibility in the authorisation and issue of
interpretative reports.
Clinical conditions that may require urgent action and how to
instigate such action.
Normal and abnormal results and their significance to the clinical
question or condition.
Protocols and requirements for hygiene and infection control
related to the relevant range of investigations, including
preparation, conduct and completion of investigation.
Protocol for hand washing and how effective hand washing
contributes to control of infection.
The relevant health and safety regulations for laboratory and
clinical investigations.
The specific health and safety regulations for the specialism, type
of specimen/sample and investigation.
The potential hazards and risks and the actions to be taken to
minimise these.
Responsibilities and scope of practice of laboratory personnel
involved in performing investigations and reporting those
investigations to users.
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MODULE
TITLE
AIM
SCOPE
Haematology and Transfusion Science (HT-1)
COMPONENT Rotation
This module will provide trainees with the knowledge and understanding of the formation of red blood cells, the
mechanism of haemostasis and the relevance of blood group antigens and antibodies.
On completion of this module the trainee will understand the formation of red blood cells, the mechanism of
haemostasis and the relevance of blood group antigens and antibodies. They will be able to apply the principles
and practices of common methods used in haematology, haemostasis and blood transfusion, and perform a
specified range of investigations in the laboratory. They will have gained an understanding of common clinical
disorders associated with abnormal haematology and haemostasis and have some experience of the interpretation
of patient results in a variety of clinical settings. They will have attached a basic knowledge of blood transfusion in a
variety of settings, and an understanding of how to provide patients with safe and effective transfusion support.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1.
2.
3.
4.
5.
6.
Perform a range of laboratory techniques used in screening and investigating haematological disorders.
Perform the range of laboratory and point-of-care techniques (POCTs) used in the investigation of disorders of haemostasis.
Perform blood group serology in the context of pre-transfusion testing.
Select safe and appropriate blood and blood components for patients with a range of clinical conditions.
Apply the principles of internal quality control and external quality assessment and draw conclusions about assay performance.
Use laboratory IT systems for handling, processing and storage of patient data.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:









Participate in the local programme for monitoring anticoagulation therapy. Reflect on its importance to the service, to the patient
and the benefits for patient management.
Under supervision, prepare a report for patients being investigated for one of the following:

basic haematological disorders

haemostasis

blood transfusion
Attend multidisciplinary team meeting, including the identification of at least one clinical case and review/report on the benefits
of a multidisciplinary approach to patient investigation and management.
Review and discuss the scope of the hospital haematology laboratory in the investigation of basic haematological disorders,
haemostasis and blood transfusion.
Report and discuss with your trainer the range of blood components and products in common use and their correct storage.
Provide support in the investigation of basic haematological disorders, and discuss with your trainer the correct sampling
technique and the use and validity of reference ranges.
Review and discuss the interpretation and reporting of laboratory results in the context of common clinical disorders.
Reflect on and present a report regarding the partnership between Haematology and Transfusion Science and other clinical
specialisms in the investigation and management of common disorders.
Observe, support and reflect on blood film preparation, staining and interpretation in normal and pathological conditions,
including parasites.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence and knowledge and understanding each trainee must gain. Each competence is
linked to the relevant learning outcomes and trainees must demonstrate achievement of each competence for each linked learning
outcome.
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PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
1,2,5,6
COMPETENCES
Receive, process and store
common haematology specimens.
KNOWLEDGE AND UNDERSTANDING










1,2,3,5,6
Interpret request forms and
recommend the most appropriate
investigation strategy to investigate:
 basic haematological disorders
 haemostasis
 patients for blood transfusion




Minimum data set required for identification of samples and the
importance of ensuring that this is complete and correct.
Factors affecting sample integrity and appropriate corrective action.
Procedures for handling samples which may contain category 2, 3
and 4 pathogens.
Types and implications of hazards and risks associated with handling
of specimens and relevant control measures.
The quality management process that ensures the correct location
and storage of documentation and specimens at each stage of the
process.
Infection risk from blood samples.
Safe laboratory practices, including principles of decontamination of
equipment and work areas.
Quality assurance procedures and their application.
Local and national health and safety policies and procedures and
their application.
Relevant records, their importance and how to complete these
correctly.
The repertoire, specimen requirements, referral patterns and
storage, ordering, reference ranges and turnaround times of the
methods used to investigate the specified range of disorders and
requests listed.
Principles, scientific basis and clinical application of commonly
performed analytical procedures in haematology.
Significance and importance of bottle and anticoagulant types.
The major clinical users of the haematology and transfusion service
for the following core investigations:
 full blood counts
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KEY
LEARNING
OUTCOMES
1,2,3
1
1,2,5
COMPETENCES
Interpret laboratory data in light of
clinical details and prepare basic
interpretive written reports on
patients with at least two of the
following:
 iron deficiency anaemia and iron
overload
 haemolytic anaemia
 megaloblastic anaemia/folate
deficiency
 polycythaemia
 abnormal haemoglobin and
thalassaemia (initial tests)
 haematological malignancy
(blood cell abnormalities)
Identify one case requiring urgent
intervention and describe relevant
clinical advice on follow-up and/or
further management.
Perform at least three of the
following methods to specified
KNOWLEDGE AND UNDERSTANDING

 coagulation testing
 pre-transfusion testing and requests for blood components.
The clinical features and haematological characteristics of:
 iron deficiency and iron overload
 the anaemia of chronic disease
 abnormal haemoglobin and thalassaemia
 haematological malignancy.
Relevant specific national/international guidelines.
The information to be included in an interpretative report.
How to construct an interpretative report and the format required for
presentation.
The lines of communication and responsibility for reporting reactions
or complications both in the clinical management of the reaction and
the documentation and reporting of the incident.
Limits of responsibility in the authorisation and issue of interpretative
reports.
Normal and abnormal results and their significance to the clinical
question or condition.
Importance of pre-analytical variables.
Reference values and the significance of abnormal results.
Limitations of interpretation and reporting.
How to deal with out-of-range quality control values.
Clinical conditions that may require urgent action and how to
instigate such action.
Critical values in haematology.


Principles and scientific basis of automated analysers.
Point-of-care testing in haematology.












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KEY
LEARNING
OUTCOMES
COMPETENCES
quality standards:
 automated analysers to quantify
erythrocytes, leucocytes,
platelets, reticulocytes and white
cell differentiation
 erythrocyte sedimentation rate
 prepare blood and bone marrow
aspirate films
 peripheral blood cell microscopy
 recognition of malarial parasites
1,5,6
Interpret laboratory data in light of
clinical details and prepare written
reports on patients with one of the
following:
 common bleeding disorders
 common thrombotic disorders
 lupus anticoagulation
KNOWLEDGE AND UNDERSTANDING

















1,2,5,6
Perform the following range of
investigations:


Principles and methods of laboratory investigations and clinical
findings in testing of suspected inherited platelet disorders.
The effect of medication on results of testing.
Bone marrow aspiration, trephine biopsy, preparation and staining
techniques for the morphological identification of cells in bone
marrow in normal and pathological conditions.
Collection of trephine and bone marrow aspirates and their correct
application.
Methods and techniques for preparation of bone marrow cells for
microscopy.
Principles of microscopy.
The principles of staining and the application of staining techniques.
The pre-analytical variables that will affect the appearance of cells.
Principles and correct use of the instrumentation, reagents and
methodology to assess a specific coagulation factor deficiency.
Reference values and the significance of abnormal results.
Interpretation of lupus results and the importance of confirmation
test.
Relevance and significance of linearity and parallelism.
Common clinical findings and laboratory investigation of suspected
haemophilia A, B and von Willebrand disease.
Laboratory findings in acquired coagulation disorders.
Laboratory investigations of suspected factor inhibitors.
Principles of replacement therapy.
Effects of liver disease and vitamin K deficiency on coagulation
factors.
Appropriate time to investigate following a thrombotic event.
Laboratory investigations of venous thromboembolism (VTE) and
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LEARNING
OUTCOMES
COMPETENCES





3,5,6
3,5,6
prothrombin time (PT)
activated partial thromboplastin
time (APTT)
anticoagulation therapy
monitoring (INR)
POCT for INR
d-dimer
Apply sample acceptance criteria for
samples for pre-transfusion testing.
KNOWLEDGE AND UNDERSTANDING
arterial thrombosis.
 The effect of medication on results of testing.
 The principles of anticoagulant therapy, therapeutic ranges and
laboratory monitoring of warfarin, unfractionated heparin and low
molecular weight heparin.
 The use of d-dimer for the investigation of a suspected VTE.
 The relationship between abnormal anticoagulation screening and
other laboratory tests such as full blood count and liver function tests.
 Basics of blood group systems – genes, antigens and antibodies.
 The range of manual and automated routine serological tests, their
underlying principles and appropriate use in pre-transfusion testing.
 Clinical significance of red cell antibodies.
 Antibody-mediated intra- and extravascular red cell destruction and
the role of complement.
 Selection of controls for serological testing, recognising control
failures and further actions required.
 The limitations of the testing repertoire available in-house and
options for referral.
 Principles of, and current guidelines relating to, pre-transfusion
testing.
Perform routine transfusion tests,
including:
 indirect antiglobulin test (IAT)
and ‘immediate spin’ crossmatch
 ABO and RhD typing
 antibody screening
 simple antibody identification by
IAT and enzyme (single
specificity)
 Rh and K red cell phenotyping
Issue appropriate blood components 
for patients with a range of clinical
conditions.

Store blood components used
locally in correct conditions.

Use of IT systems to issue blood components, and the need for
security/traceability.
Awareness of the range of blood components / products available,
their correct storage conditions and clinical use.
Awareness that there are categories of patients requiring
components with additional specifications, e.g. neonates, patients
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING



1,2,3,5
Produce a basic interpretative report
on haematological investigations.





1,2,3,4
Control infection risks in accordance
with departmental protocols.


1,2,3,4
Minimise risks and hazards in
compliance with health and safety
policies.




with sickle cell disease (SCD).
Awareness that some patients are not suitable for electronic issue
(EI).
Aetiology, pathophysiology and clinical features of conditions
requiring transfusion support.
Overview of legislation/guidelines relevant to blood transfusion
practice.
The information to be included in an interpretative report.
How to construct an interpretative report and the format required for
presentation.
Limits of responsibility in the authorisation and issue of interpretative
reports.
Clinical conditions that may require urgent action and how to
instigate such action.
Normal and abnormal results and their significance to the clinical
question or condition.
Protocols and requirements for hygiene and infection control related
to the relevant range of investigations, including preparation, conduct
and completion of investigation.
Protocol for hand washing and how effective hand washing
contributes to control of infection.
The relevant health and safety regulations for laboratory and clinical
investigations.
The specific health and safety regulations for the specialism, type of
specimen/sample and investigation.
The potential hazards and risks and the actions to be taken to
minimise these.
Responsibilities and scope of practice of laboratory personnel
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
involved in performing investigations and reporting those
investigations to users.
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MODULE
TITLE
AIM
SCOPE
Introduction to Principles and Practice of
Histopathology (HP-1)
COMPONENT Rotation
This module will provide trainees with the knowledge and understanding of the principles and practice of
Histopathology as applied to clinical medicine.
Trainees will use a range of histological techniques and gain experience of interpreting results from patient
investigations.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1. Receive, prepare and process specimens for histopathological investigation. To include dissection, tissue selection cutting,
fixation and staining as appropriate.
2. Select the appropriate demonstration technique in the investigation of representative histopathology specimens.
3. Use microscopic examination techniques to investigate histopathological specimens.
4. Recognise normal cellular morphology of representative tissues and organs and common pathobiological processes associated
with them.
5. Comply with quality assurance processes associated with histopathological investigations.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:





Participate in multidisciplinary review meetings at which histopathology results are presented as part of the clinical record.
Reflect and report on the importance of a multidisciplinary approach to patient investigation, treatment and management.
Review, discuss and report on the application of the range of histochemical, immunocytochemical and molecular techniques
available in the training department.
Observe, review and discuss the application and interpretation of quality assurance methodologies in Histopathology.
Discuss, with practitioners, the preparation and reporting of FRCPath category A, B and C specimens.
Undertake activities that demonstrate the partnership between the histopathology laboratory and other clinical specialisms in
the investigation of disease. Reflect on your experiences and the implications for patient investigation, treatment and care.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence and knowledge and understanding each trainee must gain. Each competence is
linked to the relevant learning outcomes and trainees must demonstrate achievement of each competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional
practice competences alongside the competences defined in this module.
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KEY LEARNING
OUTCOMES
1,5
COMPETENCES
Receive, label and store of a wide
range of histopathology specimens.
KNOWLEDGE AND UNDERSTANDING













1
Prepare and use a microtome on a



Minimum data set required for identification of samples and the
importance of ensuring that this is complete and correct.
Factors affecting sample integrity and appropriate corrective action.
Procedures for handling samples which may contain category 2, 3 and
4 pathogens.
Types and implications of hazards and risks associated with handling
of specimens and relevant control measures.
The quality management process that ensures the correct location and
storage of documentation and specimens at each stage of the
process.
Legal and ethical considerations and requirements in respect of
examination of tissue, selection of control material and disposal of
specimens.
Infection risk from blood samples and how to deal with fresh tissue
samples.
Safe laboratory practices, including principles of decontamination of
equipment and work areas.
Specimen acquisition, viability, collection and delivery, including renal
biopsies and bullous skin diseases.
Quality assurance procedures and their application.
Local and national health and safety policies and procedures and their
application.
The range of imaging procedures available and their use, including
storage of images.
Correct and safe use of imaging equipment and processing of X-rays
or photographic films if required.
The dissection of FRCPath category A, B and C specimens.
Principles and practice of fixation.
Principles of specimen dissection and block selection.
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KEY LEARNING
OUTCOMES
COMPETENCES
range of tissue samples within
different embedding materials.
KNOWLEDGE AND UNDERSTANDING









2
2
2
Apply the haematoxylin and eosin
staining technique to a variety of
tissue samples.
Select the appropriate tinctorial
and/or histochemical staining
techniques required to demonstrate
a specific disease process using
appropriate control material.
Select the appropriate impregnation
techniques required to demonstrate
a specific disease process using
appropriate control material.









Tissue processing and embedding techniques.
Decalcification.
Microtomy, cryotomy.
Macrophotography.
Normal cellular morphology and ultrastructure of specified tissues and
organ systems, including skin, building on basic anatomy and
physiology.
Basic principles of tissue preparation techniques, including factors
affecting selection and their application.
Factors that influence the quality and integrity of prepared specimens.
The principles of specimen dissection and manipulation to expose
features of interest.
Basic principles of demonstration techniques and their rationale and
hazards.
Haematoxylin and eosin staining techniques and their application.
Special stains to identify individual tissue/cellular components, e.g.
connective tissues, nucleic acids, mucins, lipids, pigments.
Histochemical techniques and their application.
Potential artefacts, their identification and importance.
The range of tinctorial and histochemical staining techniques, their
selection and application to disease processes.
The range of control materials and their appropriate use.
Capabilities and limitations of methods, techniques and equipment.
Principles and applications of techniques using different
instrumentation.
Correct use and application of reagents for analysis.
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KEY LEARNING
OUTCOMES
3
4
4
4
1,2,3,4
COMPETENCES
Set up and use light microscopy at
various magnifications in the
investigation of a range of tissue
specimens.
Select the appropriate enzyme
histochemical techniques required
to demonstrate a specific disease
process using appropriate control
material.
Select the appropriate
immunohistochemical and/or
immunofluorescence techniques
and antibodies to demonstrate a
specific disease process using
appropriate control material.
Select the appropriate molecular
techniques, markers and reagents
required to demonstrate a specific
disease process using appropriate
control material.
Produce a basic interpretative
report on histopathology
investigations.
KNOWLEDGE AND UNDERSTANDING

The function of microscopic components and how to set up a
microscope for investigation of histopathology specimens.

Histochemical techniques and their application.

The principles and common application of immunohistochemistry and
immunofluorescence.

The principles and common application of molecular techniques in
Histopathology.

The components required for a histopathology report and their
relevance to patient care.
The information to be included in an interpretative report.
How to construct an interpretative report and the format required for
presentation.
Limits of responsibility in the authorisation and issue of interpretative
reports.
Clinical conditions that may require urgent action and how to instigate
such action.
Normal and abnormal results and their significance to the clinical





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KEY LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING


1,2,5
Control infection risks in
accordance with departmental
protocols.


1,2,5
Minimise risks and hazards in
compliance with health and safety
policies.




question or condition.
Relevance and importance of specificity, sensitivity, accuracy,
precision and linearity in the evaluation of analytical methods.
The range of further investigations that may be required, their
purpose, capabilities and limitations.
Protocols and requirements for hygiene and infection control related to
the relevant range of investigations, including preparation, conduct
and completion of investigation.
Protocol for hand washing and how effective hand washing contributes
to control of infection.
The relevant health and safety regulations for laboratory and clinical
investigations.
The specific health and safety regulations for the specialism, type of
specimen/sample and investigation.
The potential hazards and risks and the actions to be taken to
minimise these.
Responsibilities and scope of practice of laboratory personnel involved
in performing investigations and reporting those investigations to
users.
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MODULE
TITLE
AIM
SCOPE
Principles and Practice of Cervical Cytology
and Diagnostic Cytopathology (CP-1)
COMPONENT
Rotation
This module will provide trainees with the knowledge and understanding of Cervical Cytology and an overview
of the role and limitations of Diagnostic Cytopathology.
Trainees will be able to recognise normal cells in cervical cytology preparations. They will gain knowledge of
the cervical screening programme, the role of fine needle aspiration cytology and non-gynaecological cytology
preparation techniques.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1.
2.
3.
4.
Receive, prepare and process specimens for cytopathological investigation.
Select appropriate methods for preparation, fixation and staining.
Use microscopic examination techniques on a selection of cytopathology samples.
Recognise the appearance of normal and abnormal cellular patterns in Cervical Cytology.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:






Participate in multidisciplinary review meetings at which cytopathology results are presented as part of the clinical record.
Reflect and discuss in terms of the benefits of a multidisciplinary approach to patient care and the importance for the patient
pathway.
Review and discuss the application of the range of cytochemical, immunocytochemical and molecular techniques available in
the training department, including application to non-gynaecological specimens.
Review, reflect on and discuss the operation of current cervical screening programmes, with particular reference to their
importance to patient groups, to identification and prevention of disease and to the patient pathway.
Review and discuss the application and interpretation of quality assurance methodologies in Cytopathology.
Discuss with practitioners the preparation and interpretation of cytopathological reports. Reflect and report on the importance
and implications of effective reporting.
Undertake a range of work activities that involve working in partnership between the cytopathology laboratory and other
clinical specialisms in the investigation of disease. Reflect and report on the importance of this partnership approach to the
patient experience of investigation, treatment and management.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence and knowledge and understanding each trainee must gain. Each competence is
linked to the relevant learning outcomes and trainees must demonstrate achievement of each competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional
practice competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
1
COMPETENCES
Receive, label and store a wide
range of cytopathology specimens.
KNOWLEDGE AND UNDERSTANDING








2
Prepare, select and use appropriate
fixative and staining solutions to a
variety of tissue samples, to include:
 Papanicolaou and MayGrünwald-Giemsa staining
technique.






3
Set up and use light microscopy at
various magnifications levels to

Minimum data set required for identification of samples and the
importance of ensuring that this is complete and correct.
Factors affecting sample integrity and appropriate corrective action.
Procedures for handling samples which may contain category 2, 3 and
4 pathogens.
Relevant records, their importance and how to complete these
correctly.
Types and implications of hazards and risks associated with handling
of cytopathology specimens and relevant control measures.
Correct location and storage of documentation and specimens at each
stage of processing.
Types and implications of hazards and risks associated with handling
of specimens and relevant control measures.
The quality management process that ensures the correct location and
storage of documentation and specimens at each stage of the
process.
Types, purposes and use of fixatives, preservatives, stains and
equipment associated with specimen preparation and processing.
Potential hazards and risks associated with specimen preparation and
associated control measures.
Principles of liquid-based cytology and imaging technologies.
Principles of non-gynaecological cytology preparation techniques.
Special stains used to aid diagnosis relevant to cytology, including
Grocott and Ziehl–Neelsen (ZN).
Relevant statutory, regulatory and legislative requirements and
guidance associated with processing of specimens.
The function of microscopic components and how to set up a
microscope for investigation of cytopathology specimens.
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KEY
LEARNING
OUTCOMES
2
COMPETENCES
investigate a range of cytopathology
specimens.
Select the appropriate enzyme
cytochemical techniques required to
demonstrate a specific disease
process using appropriate control
material.
KNOWLEDGE AND UNDERSTANDING




2
4
4
Select the appropriate
immunocytochemical techniques
and antibodies to demonstrate a
specific disease process using
appropriate control material.


Based on representative cervical
cytology specimens, identify normal
cellular appearance under the
microscope and be able to
recognise commonly occurring
pathological features.


Produce a basic interpretative report
on cytopathology investigations.







Relevance and importance of specificity, sensitivity, accuracy and
precision in the evaluation of analytical methods.
Capabilities and limitations of methods, techniques and equipment.
Safe laboratory practices, including principles of sterilisation and
decontamination.
Principles and applications of techniques using different
instrumentation.
Use and application of reagents for analysis.
Significance of standard operating procedures (SOPs), internal quality
control (IQC) and external quality assessment (EQA).
Factors that influence the quality and integrity of prepared specimens.
The range of further investigations that may be required, their
purpose, capabilities and limitations.
Factors that influence the quality and integrity of prepared specimens.
The range of further investigations that may be required, their
purpose, capabilities and limitations.
How to recognise common pathological features of dyskaryosis,
cervical glandular intraepithelial neoplasia and common infections
seen in cervical samples.
The information to be included in an interpretative report.
How to construct an interpretative report and the format required for
presentation.
Limits of responsibility in the authorisation and issue of interpretative
reports.
Clinical conditions that may require urgent action and how to instigate
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING

1,2,3
Control infection risks in accordance
with departmental protocols.


1,2,3
Minimise risks and hazards in
compliance with health and safety
policies.




such action.
Normal and abnormal results and their significance to the clinical
question or condition.
Protocols and requirements for hygiene and infection control related to
the relevant range of investigations, including preparation, conduct
and completion of investigation.
Protocol for hand washing and how effective hand washing contributes
to control of infection.
The relevant health and safety regulations for laboratory and clinical
investigations.
The specific health and safety regulations for the specialism, type of
specimen/sample and investigation.
The potential hazards and risks and the actions to be taken to
minimise these.
Responsibilities and scope of practice of laboratory personnel involved
in performing investigations and reporting those investigations to
users.
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MODULE
TITLE
AIM
SCOPE
Principles and Practice of Reproductive
Science and Diagnostic Semen Analysis
(RS-1)
COMPONENT Rotation
This module will provide trainees with the knowledge and understanding of the normal physiology of the male
and female reproductive tracts. The trainees will gain an insight into the in vitro fertilisation patient pathway.
Trainees will be able to perform diagnostic semen analysis and recognise how the differing semen parameters
relate to clinical treatment. They will gain knowledge of current legislation and regulations and will be able to
apply appropriate standards of health and safety and perform to expected standards.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1.
2.
3.
4.
5.
Apply and interpret quality assurance methodologies in reproductive science.
Apply health and safety methodologies and practices appropriate to the reproductive science laboratory.
Perform to accepted standard relevant techniques for semen analysis and preparation.
Prepare, interpret and report on diagnostic semen analysis (under supervision).
Work in partnership with the reproductive science laboratory and other clinical specialisms in the investigation of infertility.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:







Participate in multidisciplinary team meetings at which a range of relevant clinical cases and/or procedures are discussed.
Review and discuss the patient pathway through the treatment process and the benefits of a multidisciplinary approach.
Visit a clinical biochemistry laboratory. Review and discuss the methods used for the measurement and reporting of
reproductive hormones.
Attend infertility clinics and assisted conception units. Review and report on their role and importance in the patient pathway.
Observe work activities with specific reference to embryology procedures from egg collection to embryo transfer (including in
vitro fertilisation [IVF], intracytoplasmic sperm injection [ICSI], embryo culture, embryo freezing and thawing) and theatre
procedures (including egg collection and embryo transfer), and review these procedures in relation to the patient journey
through investigation and treatment.
Observe follicular and clinical pregnancy scanning to follow the patient pathway and understand how monitoring is carried out
in a controlled ovarian stimulation regimen.
Observe, participate and review the application and interpretation of quality assurance methodologies in Reproductive Science.
Review and discuss the preparation, interpretation and reporting of diagnostic semen analysis.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence and knowledge and understanding each trainee must gain. Each competence is
linked to the relevant learning outcomes and trainees must demonstrate achievement of each competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
1,2,5
COMPETENCES
Receive, process and store samples
for analysis.
KNOWLEDGE AND UNDERSTANDING












3
1,2,3
1,2,3
Set up and use relevant
microscopes. To include optical
principles, maintenance and clinical
applications.
Measure semen volume, extent of
liquefaction and appearance.
Perform repeated sperm counts for
concentration and motility using the
same semen sample and be able to





Minimum data set required for identification of samples and the
importance of ensuring that this is complete and correct.
The importance of patient confidentiality and how this is maintained.
Factors affecting sample integrity and appropriate corrective action.
Instructions that need to be provided to patients pre sample.
Procedures for handling samples which may contain category 2, 3 and
4 pathogens.
Types and implications of hazards and risks associated with handling of
specimens and relevant control measures.
The quality management process that ensures the correct location and
storage of documentation and specimens at each stage of the process.
Legal and ethical considerations and requirements in respect of
handling and processing samples in Reproductive Science.
Infection risk from samples and how to deal with fresh tissue samples.
Safe laboratory practices, including principles of decontamination of
equipment and work areas.
Quality assurance procedures and their application.
Local and national health and safety policies and procedures and their
application.
The function of microscopic components and how to set up a
microscope for investigation of reproductive specimens.
Normal male and female reproductive anatomy and physiology.
Current legislation and regulation as it applies to Reproductive Science.
Principles of, and standards for diagnostic semen analysis.
Characteristics of normal and abnormal semen samples.
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KEY
LEARNING
OUTCOMES
1,2,3
3,4
3,4
4
COMPETENCES
explain the variation observed.
Perform diagnostic sperm counts for
concentration and motility on 
different patients and be able to
prepare reports for discussion with
your supervisor.
Identify normal and abnormal
semen samples. To include sperm
concentration, motility assessment,
morphology, anti-sperm antibody
testing, sperm viability testing.
Perform gradient and swim-up
techniques for the preparation of
semen samples for treatment.
Produce a record of reports seen
and discussed with your supervisor.
KNOWLEDGE AND UNDERSTANDING

Semen preparation, including different methodologies, diagnostic tests
and functional tests.







Characteristics of normal and abnormal semen samples.
Hormonal control of male reproduction.
Reasons for referral.
Causes of and treatments for infertility.
The anatomy and physiology of the male reproductive tract.
SSR (surgical sperm retrieval).
The advantages and disadvantages of different methodologies used for
the preparation of sperm.

Requirements for records and reports of investigations in Reproductive
Science.
How to construct an interpretative report and the format required for
presentation.
Limits of responsibility in the authorisation and issue of interpretative
reports.
Clinical conditions that may require urgent action and how to instigate
such action.
Normal and abnormal results and their significance to the clinical
question or condition.
Protocols and requirements for hygiene and infection control related to
the relevant range of investigations, including preparation, conduct and
completion of investigation.




2,3
Control infection risks in accordance
with departmental protocols.

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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING

2,3
Minimise risks and hazards in
compliance with health and safety
policies.






Protocol for hand washing and how effective hand washing contributes
to control of infection.
The relevant health and safety regulations for laboratory and clinical
investigations.
The specific health and safety regulations for the specialism, type of
specimen/sample and investigation.
The potential hazards and risks and the actions to be taken to minimise
these.
Use and maintenance of centrifuges.
Responsibilities and scope of practice of laboratory personnel involved
in performing investigations and reporting those investigations to users.
The patient pathway through a treatment cycle.
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SECTION 4: PROFESSIONAL PRACTICE LEARNING FRAMEWORK
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STP Learning Framework
This section describes the Learning Framework for the Professional Practice Component of work
based learning covering the Learning Outcomes, Clinical Experiential Learning, Competence and Applied
Knowledge and Understanding. This module spans the Rotational and Specialist period of training. Each
trainee is also expected to build on and apply the knowledge, skills and experience gained from the MSc
in Clinical Science.
DIVISION
THEME
SPECIALISM
PROFESSIONAL PRACTICE
Life Sciences, Physiological Sciences, Physical Sciences and
Biomedical Engineering
ALL
ALL
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Introduction
Good Scientific Practice (GSP) sets out the principles and values on which good practice undertaken by the HCS workforce is
founded. GSP sets out the standards of behaviour and practice that must be achieved and maintained in the delivery of work
activities and the provision of care for the profession and the public. GSP uses as a benchmark the Health Professions Council
(HPC) Standards of Proficiency and Standards of Conduct, Performance and Ethics, but expresses these in the context of the
modalities within healthcare science.
Good Scientific Practice represents standards and values that apply throughout an individual’s career in healthcare science at any
level of practice. Therefore the standards have been contextualised for the role of healthcare scientist. There will, however, always
be a requirement for an individual to work within the limits of their scope of practice and competence.
Professional Practice in the STP Training Programme
This generic professional practice module, which all STP trainees have to complete, defines the knowledge, skills and experience
that each trainee is expected to gain and apply during the STP programme and develop in subsequent employment. The degree to
which each specialism applies the knowledge, skills and experience will vary, but this module sets the baseline for all trainees.
Each rotational and specialist learning framework subsequently develops areas as appropriate, for example clinical history taking in
patient-facing specialisms.
While it is expected that trainees will be able to achieve the majority of the learning outcomes and competences within their
specialism, some specialisms may have to make special arrangements to ensure all trainees achieve the learning outcomes and
competences defined in this learning framework. This may include, for example, working with a local clinical skills laboratory to help
trainees develop basic skills in history taking.
The Learning Framework that defines the learning outcomes, clinical experiential learning, competences, knowledge and
understanding are detailed on the following pages.
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COMPONENT
GENERIC
MODULE Professional Practice (PP1)
TITLE
Professional Practice is part of the generic curriculum (applicable to all trainees) on the Scientist Training
AIM
SCOPE
Programme. The overall aim of the module is to ensure that each trainee has the underpinning knowledge and
applies this and the accompanying skills and attitudes to work as a healthcare scientist in accordance with Good
Scientific Practice (GSP).
GSP sets out the principles and values on which the practice of healthcare science is undertaken. It sets out for the
profession and the public the standards of behaviour and practice that must be achieved and maintained in the
delivery of work activities and the provision of care. This module encompasses the knowledge, skills, experience and
attitudes across four of the five domains of Good Scientific Practice, namely Professional Practice, Scientific Practice,
Clinical Practice, Research and Development, and Clinical Leadership, but all other modules within this programme
will contribute to embedding professional practice at the centre of the work of each trainee.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
Professional Practice
1. Place the patient at the centre of care in daily practice, ensuring the needs of patients are respected.
2. Communicate with patients, relatives, service users, other healthcare professionals, colleagues and the public with respect,
empathy and sensitivity, including listening, speaking, giving and receiving information, and giving and receiving feedback.
3. Respond to the ethical and legal issues and challenges arising from the practice of healthcare science.
4. Demonstrate a commitment to the continuing professional development of themselves and others, and attend professional
meetings.
Clinical Practice
5. Make appropriate and effective use of information and communications technology.
6. Under supervision, obtain a patient history from a normal volunteer or typical patient referred to your service and present the
findings to a colleague or peer in order to understand the clinical decision-making process in clinical practice.
7. Promote the importance of patient safety and general health, safety and security in the workplace, including infection control
and information governance.
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Research, Development and Innovation
8. Apply knowledge, skills and experience of research, development and innovation appropriate to the role in order to identify
effectively actions that will improve service provision.
9. Engage in evidence-based practice, participate in audit procedures and critically search for, appraise and identify innovative
approaches to practice and delivery.
Clinical Leadership
10. Demonstrate a range of leaderships skills required of an emerging leader within healthcare science.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:



Attend clinics, ward rounds, treatment and/or rehabilitation sessions, etc., in primary or secondary care, or in the charity or
voluntary sector where patients attend, and observe how patient–professional relationships are developed and maintained, and
reflect on how the following impact on the patient–professional relationship:
o
response to illness
o
patient and carer perspective
o
health belief models
o
diversity of the patient experience
o
disability, including learning disabilities
o
potential health inequalities
o
self-care
o
impact of life-threatening and critical conditions
o
patient involvement in decisions regarding their healthcare.
Observe a current screening programme in the workplace and discuss with your training officer the principles and practice of
screening programmes in healthcare as a means of reducing disease burden.
Observe and participate in internally and externally accredited quality management systems and critically appraise both in your
area of practice.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence and knowledge and understanding each trainee must gain. Each competence is
linked to the relevant learning outcomes and trainees must demonstrate achievement of each competence for each linked learning
outcome.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
Professional Practice
1
1
2
Treat each patient as an
individual, respecting their
dignity and confidentiality and
upholding the rights, values
and autonomy of every
service user.
Discuss personal values,
principles and assumptions,
emotions and prejudices, and
how these may influence
personal judgement and
behaviour, and identify how
you will practise in
accordance with Good
Scientific Practice.
Communicate effectively with
the public, services users and
other healthcare
professionals, adapting
 NHS Constitution.
 Patient-centred care and the patient carer perspective with respect to:
response to illness

patient and carer perspective

health belief models

diversity of the patient experience

disability, including learning disabilities

potential health inequalities

self-care

impact of life-threatening and critical conditions

patient involvement in decisions regarding their healthcare.
 Local guidelines for responding to unacceptable behaviour by patients, carers,
relatives, peers and colleagues, including harassment, bullying and violent
behaviour.
 Good Scientific Practice.
 The importance of maintaining own health.

 The principles of effective communication, including:


written and electronic, verbal and non-verbal and feedback
the way effective communication can assist in identifying problems accurately,
increase patient satisfaction, enhance treatment adherence, and reduce
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KEY
LEARNING
OUTCOMES
COMPETENCES
communication style and
language to meet the needs
of listeners.
2
Give and receive feedback
sensitively to or from a peer
or colleague.
2
Obtain, analyse and act on
feedback from a variety of
sources and use it to
consider personal impact and
change behaviour.
Present complex ideas in
understandable terms in both
oral and written formats.
2
KNOWLEDGE AND UNDERSTANDING
patient distress and anxiety
the importance of some key ideas, for example signposting, listening,
language, non-verbal behaviour, ideas, beliefs, concerns, expectations and
summarising in communication

the range of question types that can be used in a communication.
 The range of feedback models for giving and receiving feedback.
 The evidence base underpinning the importance of effective feedback/feedback
models.

 How to analyse feedback and frameworks for action planning.
 Behavioural change models.
 The importance of public engagement in science and its role in health and
society.
 The factors that enable scientists to communicate to specialist and non-specialist
audiences.
2
2
3
Use effective negotiation
skills, including influencing
colleagues.
Work constructively and
effectively as a member of a
multidisciplinary team.
Comply with relevant
guidance and laws, to include
those relating to:
 your scope of practice
 Barriers to effective communication.
 Communication channels with/in your host department, patients and the public,
your employing institution, your profession and professional body, and the wider
healthcare science community.
 The underpinning principles of effective teamwork and working within and across
professional boundaries.
 Principles, guidance and law with respect to:



medical ethics
confidentiality
information governance
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KEY
LEARNING
OUTCOMES
COMPETENCES






4
4
4
4
4
research ethics and
governance
patient confidentiality
data protection
equality and diversity
use of chaperones
informed consent
Contribute to the education
and training of colleagues.
Take responsibility for your
learning and demonstrate a
commitment to continuing
professional development.
Meet commitments and goals
in your professional practice,
using a range of
organisational and planning
tools.
Reflect on your practice and
generate a reflective diary
that demonstrates how you
utilise the skills required of an
independent learner and your
commitment to your
continuing professional
development.
Take responsibility for
keeping your professional
KNOWLEDGE AND UNDERSTANDING
informed consent
equality and diversity

child protection

elder abuse

use of chaperones

probity

fitness to practise

the importance of maintaining your own health.
 The key principles and evidence base underpinning clinical education,
encompassing curriculum design, planning, delivery and assessment.
 How continuous personal development can improve personal performance.


 Different methods of planning, prioritising and organising, and how they can
enhance personal effectiveness.
 Core theories of learning, particularly adult learning and reflective practice, and
demonstrate how these are relevant to your practice as a healthcare scientist.
 Personal values, principles and assumptions, emotions and prejudices,
understanding how these may influence personal judgement and behaviour.
 The role of critical reflection and reflective practice and the methods of reflection
that can be used to maintain or improve knowledge, skills and attitudes.
 How to horizon scan, identify and evaluate the potential role for new and
innovative technologies and scientific advances.
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KEY
LEARNING
OUTCOMES
4
COMPETENCES
and scientific knowledge
and skills up to date.
Develop an action plan
based on your experiential
learning and reflection on
completion of the Scientist
Training Programme.
KNOWLEDGE AND UNDERSTANDING
 Action planning.
 Models and frameworks for critical reflection.
Clinical Practice
5
6
Use a range of information
and communications
technologies within the
workplace for service
delivery, research, audit and
innovation, including data
filing and archiving:
 word processing
 databases
 statistics packages
 PowerPoint
 internet
 email.
Under supervision,
demonstrate that you can
obtain and present a
patient history from a
normal volunteer or
consenting patient in order
 The range and application of clinical information systems used in the work base.
 The systems in use in the work base to file and archive information and the
processes for retrieval.
 The principles underpinning identification, storage and retrieval of scientific
literature, for example end note/end note web.
 The purpose of a range of NHS information systems, including the regulations in
place to ensure data security and confidentiality. This may include hospital
information system, linked information systems (e.g. laboratory information
management system) and middleware linking equipment to information systems.
 The importance of patient-centred care and how it ensures that the wishes,
beliefs, concerns, expectations and needs of patients are respected.
 Patient and carer perspective with respect to illness, disability, health inequalities
and diversity of the patient experience.
 Structured models for presenting a patient history.
 Process of patient-centred interviewing and the features of a good consultation,
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KEY
LEARNING
OUTCOMES
7
7
COMPETENCES
to better understand the
clinical decision-making
process in your clinical
practice.
Apply current regulations
with respect to patient safety
and safe systems within the
workplace. To include, as
appropriate to scope of
practice:
 risk management
 biological specimen
handling
 COSHH
 RIDDOR
 radioactivity
 fire safety
 electrical safety
 moving and handling
 display screen
equipment
 incident reporting
 infection control.
Use clinical coding and
medical terminology in
accordance with stated
guidance, as appropriate to
scope of practice.
KNOWLEDGE AND UNDERSTANDING








including initiating the session, gathering information, building the relationship,
explaining and planning, and closing the session.
Link between the patient history and examination and development of clinical
investigation and management plans.
The importance of health and safety within the workplace, wider healthcare
environment and NHS.
Principles, process and governance of risk management.
Factors influencing health, safety and security.
Current legislation, codes of practice, guidance notes and related documents.
Principles and practice of health and safety in the workplace.
The requirements of relevant local health and safety guidelines, manuals and
other documents, including the underpinning legislation.
The cause of errors related to patient safety, including patient and/or sample
identification.
 The importance of the correct use of clinical coding and medical terminology in
contributing to good healthcare science practice.
 Information governance principles and process.
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KEY
LEARNING
OUTCOMES
7
7
7
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
Keep accurate records in
accordance with current
guidelines and the legal
framework for data security.
Use, in your practice:
 standard operating
procedures
 protocols
 clinical guidelines
Continuously improve your
practice through good
practice in:
 identifying common
sources of error
 identification of risk
 reporting critical incidents
 Best practice recommendations for record keeping and data security.
 The Data Protection Act and current key guidelines and the legal framework for
Participate in innovation,
research, service
development and audit
activities, complying with
guidance and laws relating
to research ethics.




data security.
 Standard operating procedure, protocol and guideline, and understand the
purpose of and difference between each document.
 Evidence base that underpins the use of procedures employed by the service.
 The desirability of monitoring performance, internal and external quality control,
learning from mistakes and adopting a no-blame culture in order to ensure high
standards of care and optimise patient safety.
 The importance of honesty and effective apology in responding to errors of
practice.
 The principles and practice of risk management and the effective investigation of
incidents, resulting in the identification of root causes.
Research and Innovation
8, 9



The importance of innovation across healthcare science.
The role of innovation in improving quality and patient care.
Processes to disseminate innovation, research and audit findings.
The role of the healthcare scientist and the potential impact of scientific research
in your area of practice.
The role of the healthcare scientist in service developments in your area of
practice.
Current and developing clinical practice.
The effectiveness of investigations, therapies, interventions and treatments, and
the mechanisms by which they contribute to patient care.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING


How to horizon scan, identify and evaluate the potential role for new and
innovative technologies and scientific advances.
The role of the healthcare scientist and the potential impact of scientific
developments, for example health prevention, genomic medicine, diagnostics
and rehabilitation.
The importance of public engagement in science and its role in health and
society.
The legal framework relevant to informed consent and the application to clinical
care, research, audit and teaching.
How planning can actively contribute to the achievement of service goals.
How to measure and monitor performance against agreed targets.
The current structure, management, legal framework, and quality improvement
structures and processes within the NHS.
The current quality improvement structures and processes within the NHS and
give examples of the implications for healthcare science.
Importance of self-care and shared care as part of NHS function and the impact
of life-threatening and critical conditions.
Principles and application of evidence-based practice.




How to critically analyse scientific literature.
How to structure and present a critical analysis.
Systems of referencing.
Reference manager software.



How to prepare an oral scientific communication.
How to give an effective and timely oral presentation.
How to respond to questioning.



8, 9
Contribute to service and
quality improvement and
productivity in the work base
and embed evidence-based
developments within routine
practice.





8, 9
8, 9
Undertake a literature review
and prepare and present to
peers a critical analysis of a
publication from the scientific
literature.
Prepare and deliver an oral
scientific communication to
peers at a local, national, or
international meeting.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
Clinical Leadership
10
10
Lead in your clinical role
through appropriate
application of:
 self-management
 self-development
 integrity
 self-direction
 problem solving
 dealing with complex
issues
 making sound judgements
in the absence of
complete data.
Identify potential areas for
change and accept change
identified by others, working
across different provider
landscapes as required.
 How self-awareness, self-management, self-development and acting with
integrity at all times contribute to leadership.
 The use of evidence, both positive and negative, to identify options in addressing
challenges.
 Methods of prioritising and organising academic and work based tasks to
optimise own performance.



Structure of the NHS.
The need for change, working across different provider landscapes as required.
Change management methodologies.
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SECTION 5: ELECTIVE LEARNING FRAMEWORK
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STP Learning Framework
This section describes the Learning Framework for the Elective Component of specialist work based
learning, covering the Learning Outcomes, Clinical Experiential Learning, Competence and Applied
Knowledge and Understanding. This module spans the Rotational and Specialist period of training.
Each trainee is also expected to build on and apply the knowledge, skills and experience gained from
the MSc in Clinical Science.
ELECTIVE
DIVISION
THEME
SPECIALISM
Life Sciences, Physiological Sciences, Physical Sciences and
Biomedical Engineering
ALL
ALL
The elective period can be taken any time during the specialist training. It may comprise a single 4- to 6-week elective or a series of
shorter periods of elective training.
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MODULE
TITLE
AIM
SCOPE
Elective (EL)
COMPONENT
Specialist
The aim of the elective period is to facilitate wider experience of healthcare and/or the practice of healthcare
science in a cultural and/or clinical setting that is different from the usual training environment. This may
involve healthcare or healthcare science in a different area of the health service, or in pursuit of a particular
clinical or research interest.
The elective provides opportunities for you to:
 explore in depth areas of particular interest beyond the scope of the Scientist Training Programme;
 increase awareness of important health issues and develop an understanding of the effect of disease on
communities and individuals in different cultural contexts;
 explore unfamiliar scientific, social, economic, or cultural areas;
 become more proficient at communication with individuals from different social, cultural and ethnic
backgrounds;
 gain hands-on experience that might not otherwise be possible in a Scientist Training Programme;
 design and undertake a significant assignment with appropriate guidance and supervision, thereby
developing personal and organisational skills;
 undertake a small audit or research project in a different clinical setting;
 relate your experiences to your own area of practice.
LEARNING OUTCOMES
Learning outcomes are specific to each student. With guidance, you are expected to identify your own educational objectives and
organise an elective to achieve them.
1. Agree, organise and complete a period of education and training that provides a wider experience of healthcare and/or the
practice of healthcare science, and aligns with Good Scientific Practice.
2. Critically reflect on your experience in your elective and develop an action plan as part of your continuing personal and
professional development.
3. Prepare a presentation and present your elective experiences to colleagues, including trainee healthcare scientists.
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KEY
LEARNING
OUTCOMES
1
2
3
COMPETENCES
Produce learning outcomes for the
elective training period and link
these to Good Scientific Practice.
Write a report of your elective
training that includes your learning
outcomes (mapped to Good
Scientific Practice), a critical
reflection on your experience and an
action plan.
Plan, prepare and deliver an oral
presentation that describes and
reflects on the learning from your
elective and shows how your
experience will shape your future
practice.
KNOWLEDGE AND UNDERSTANDING

Good Scientific Practice.



Report writing.
Critical reflection.
Action planning.




How to prepare an oral communication.
How to give an effective and timely oral presentation.
Use of visual aids.
How to respond to questioning.
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SECTION 6: SPECIALIST LEARNING FRAMEWORK: GENOMICS
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STP Learning Framework
This section describes the Learning Framework for the Specialist Component of work based learning
covering the Learning Outcomes, Clinical Experiential Learning, Competence and Applied Knowledge
and Understanding. Each trainee is also expected to build on and apply the knowledge, skills and
experience gained from the MSc in Clinical Science.
Specialist Modules
DIVISION
THEME
SPECIALISM
Life Sciences
Genomic Sciences
Genomics
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GENOMICS – SPECIALIST MODULES
Module 1 (CG-2)
Prenatal Genomics
Module 2 (CG-3)
Paediatric Genomics
Module 3 (CG-4)
Adult Genetic and Genomic Disorders
Module 4 (CG-5)
Genomics of Sporadic Cancers
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MODULE 2
AIM
SCOPE
Prenatal Genomics (CG-2)
COMPONENT Specialist
To develop the skills to be able to apply genetic and genomic testing to a range of prenatal referrals,
including screening and diagnosis and understand the implications these results may have for other
family members.
During this module the trainee will gain experience of practical skills for chromosomal microarrays,
dosage analysis for aneuploidy detection and identification of maternal cell contamination, in addition to
targeted mutation testing. The trainee will be able to analyse and interpret the data generated. They will
compose clinical reports which satisfy all relevant guidelines. They will experience and understand
relevant aspect of molecular technologies applied to pregnancy and pregnancy loss including NIPD/T.
They will understand the application of genetic and genomic testing relevant to this patient population,
including ethical, legal and social implications for the effective management of the patient and their
family.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1. Apply an appropriate testing strategy (the right sample, the right test, for the right reasons) meeting all relevant KPIs (key
performance indicators, however defined).
2. Analyse and interpret results of specific defined tests.
3. Identify and respond appropriately to results.
4. Compose fully interpreted clinical reports guided by current best practice guidance.
5. Act in accordance with the high level of laboratory risk associated with prenatal testing and within limits of their
responsibilities.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:




Observe obstetric ultrasound scans; critically reflect on your observation and discuss the possible outcomes and implications
for patient care with your supervisor.
Observe CVS and /or Amniotic Fluid sampling; critically reflect on your observation and discuss the possible outcomes and
implications for patient care with your supervisor.
Attend a fetal medicine genetics clinic or multidisciplinary team meeting (MDT) and identify the role and importance of the
clinic or MDT for patient pathways and care.
Shadow genetic screening co-ordinators and discuss with them their role, responsibilities and interaction with the genetics
laboratory and national screening programme.
LABORATORY EXPERIENTIAL LEARNING
Gain experience of at least three of the following and reflect on their importance, application and impact on patient management:
 NIPT for aneuploidy detection
 Biochemical screening for aneuploidy
 PCR using excess material for rapid aneuploidy screening
 Chromosomal microarray on any DNA sample (pre or post-natal)
 FISH on any pre or post-natal sample
 Karyotyping on any pre or post-natal sample
All of these experiences should be recorded under reflective practice in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of every competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
1,5
1,2,3,5
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
Choose the correct prenatal sample
pathway for the sample received.
 The range of methods used in prenatal genetic testing; their application
and limitations.
 How to identify the patient cohort and factors which influence the choice
of test.
 Sample requirements for different tests.
 The scientific basis of Down syndrome screening and the role of the Fetal
Anomaly Screening Programme (FASP) in defining its application and
assessing results.
 The role of ultrasound scanning for fetal abnormality – specifically the
scan findings associated with genetic conditions.
 The origin, aetiology, prevalence and clinical significance of the common
conditions for which prenatal diagnosis is offered.
 The ethical issues around patient consent in both a screening and a
diagnostic context.
 The technical pathway for rapid aneuploidy screening including its
limitations, sensitivities, essential requirements for good laboratory
practice and the risks.
 How to identify potential for error, how this is mitigated and its potential
effects.
 Best practice guidelines compared with laboratory practice and any
differences between the two.
 Confined placental mosaicism (CPM), its origins and effects for both the
fetus and the test.
 Fetal mosaicism, its origins and effects for both the fetus and the test.
 Further technical testing which may be required.
 Reporting strategies.
 Maternal cell contamination (MCC).
 How to identify, quantify and qualify MCC.
Perform the analysis and
interpretation of rapid aneuploidy
screening results.
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KEY
LEARNING
OUTCOMES
COMPETENCES
4,5
Prepare full and accurate
interpretive clinical reports for rapid
aneuploidy testing.
1,2,3,5
Perform the analysis and
interpretation of Prenatal
Chromosomal Microarray.
KNOWLEDGE AND UNDERSTANDING
 Reporting strategies.
 Polysomy, its origins and effects for both the fetus and the test.
 The considerations required for twin and other multiple pregnancies.
 How to recognise all tests have been completed to a satisfactory
standard for the referral reason.
 All information has been validated as correct.
 Selection of correct report template for referral reason.
 Use of correct scientific and clinical terminology.
 Best practice guidelines compared with laboratory practice and any
differences between the two.
 Pertinent EQA schemes. The role and practice of pertinent EQA
schemes.
 How EQA schemes are incorporated into laboratory practice for the
complete cycle of sample/ test receipt, analysis, reporting, submission
result receipt and dissemination to staff.
 The ISO15189 standards for lab participation in EQA schemes.
 The requirement for follow up testing; the testing methods available, the
appropriate choice of test, limitations and sample requirements.
 Potential effect on the patient care pathway.
 How to assign appropriate GenU.
 How to accurately use international reporting nomenclature.
 Key performance indicators (KPIs) associated with these tests.
 Use of audit data to analyse test performance.
 The technical pathway including its limitations and sensitivities, the
essential requirement for good laboratory practice and the risks.
 How to identify and describe potential for error, how this is mitigated, its
potential effects and the reporting strategy.
 Best practice guidelines compared with laboratory practice and the
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING






4,5
Prepare full and accurate
interpretive clinical reports for
Prenatal Chromosomal Microarray
testing.









differences between the two.
The concept of incidental findings and guidance for reporting these
results.
Confined placental mosaicism (CPM), its origins and effects for both the
fetus and the test and technical testing which may be required.
Maternal cell contamination (MCC).
How to identify, quantify and qualify MCC and further technical testing
which may be required.
Fetal mosaicism, its origins and effects for both the fetus and the test
and further technical testing which may be required.
Polysomy, its origins and effects for both the fetus and the test and
further technical testing which may be required.
Validation and verification of findings.
Describe how findings are classified, from benign to pathogenic.
How to recognise all tests have been completed to a satisfactory
standard for the referral reason.
All information has been validated as correct.
Use of correct scientific and clinical terminology.
Selection of correct report template for referral reason.
Best practice guidelines compared with laboratory practice and any
differences between the two.
How to identify pertinent EQA schemes. Describe their role and practice
and how these are incorporated into laboratory practice for the complete
cycle of sample/test receipt, analysis, reporting, submission result
receipt and dissemination to staff. Discuss the ISO standards for lab
participation in EQA schemes.
How to identify the requirement for follow up testing, the testing methods
available and the appropriate choice of test. Describe any limitations.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING






1,2,3,5
4,5
Perform the analysis and
interpretation of Prenatal Diagnosis
for single gene mutations.
Prepare full and accurate
interpretive clinical reports for
Prenatal Diagnosis of single gene
disorders.











Describe sample requirements. Discuss the potential effect on the
patient care pathway. Describe how test results may have clinical
implications for the fetus and/or other family members.
How to assign appropriate GenU.
How to accurately use international reporting nomenclature.
Key performance indicators (KPIs) associated with these tests.
The clinical features of the commonly encountered chromosome
abnormalities in prenatal samples.
How to follow up (proband or family) or adjunctive tests.
How to present the audit data for these tests – specifically performance
data.
The sample and clinical requirements for the prenatal diagnosis of a
single gene disorder.
The range of technical pathways by example, including limitations and
sensitivities, the essential requirement for good laboratory practice and
the risks. Identify and describe potential for error, how this is mitigated
and its potential effects.
Best practice guidelines.
Difference between the two. Apply good practice at all times.
How to recognise all tests have been completed to a satisfactory
standard for the referral reason.
All information has been validated as correct.
Selection of correct report template for referral reason.
Use of correct scientific and clinical terminology.
Key performance indicators (KPIs) associated with these tests.
How to assign appropriate GenU.
How to accurately use international reporting nomenclature.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING

1,2,3,5
Perform follow up genetic tests, to
include directed FISH and karyotype
analysis (generally regional specific
assays).




1,2,3,5
Assist in the analysis and
interpretation of Non-Invasive
Prenatal Testing (NIPT).


4,5
Prepare full and accurate
interpretive clinical reports for NonInvasive Prenatal Diagnosis (NIPD).










How to identify appropriate follow-up (proband or family) or adjunctive
tests.
The sample and clinical requirements for follow-up tests.
The range of technical pathways by example, including limitations and
sensitivities, the essential requirement for good laboratory practice and
the risks.
Identify and describe potential for error, how this is mitigated and its
potential effects.
Best practice guidelines compared with laboratory practice and any
differences between the two.
The biological basis and the technical and scientific principles for the
identification of genetic fetal pathology using Non-Invasive Prenatal
Testing (NIPT).
How to identify the potential for error, how this is mitigated and its
potential effects.
The concept of NIPT, describing the range of incidental findings.
The principles and differences of screening and diagnostic tests
KPIs and their reporting.
How to recognise all tests have been completed to a satisfactory
standard for the referral reason.
All information has been validated as correct.
Selection of correct report template for referral reason.
Use of correct scientific and clinical terminology.
Best practice guidelines compared with laboratory practice and any
differences between the two.
The role and practice of EQA schemes.
How EQA schemes are incorporated into laboratory practice for the
complete cycle of sample/test receipt, analysis, reporting, submission
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING







result receipt and dissemination to staff.
ISO standards for laboratory participation in EQA schemes.
How to identify the requirement for follow up testing, the testing methods
available and the appropriate choice of test. The limitations of these tests.
Sample requirements and the potential effect on the patient care
pathway.
How to assign appropriate GenU.
How to accurately use international reporting nomenclature.
Key performance indicators (KPIs) associated with these tests.
How to identify appropriate follow up (proband or family) or adjunctive
tests.
Use of audit data to analyse test performance.
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MODULE 3
AIM
SCOPE
Paediatric Genomics (CG-3)
COMPONENT Specialist
To develop the skills to be able to apply genetic and genomic testing for paediatric patients with rare
inherited diseases and understand the implications these results may have for other family members.
During this module the trainee will gain experience of practical skills for dosage, targeted mutation and
methylation analysis. The trainee will be able to analyse and interpret the data generated. They will
compose clinical reports which satisfy all relevant guidelines. They will understand the application of
genetic and genomic testing relevant to this patient population including ethical, legal and social
implications for the effective management of the patient and their family.
LEARNING OUTCOMES
The content for this module will focus on (as exemplars): newborns who present as dysmorphic, failure to thrive, ambiguous
genitalia or who are hypotonic, those patients who have a clinical suspicion of Duchenne muscular dystrophy, spinal muscular
atrophy, Prader-Willi and Angelman syndrome, fragile X syndrome, myotonic dystrophy, cystic fibrosis, disorders of sexual
differentiation, children with developmental delay or delayed puberty.
On successful completion of this module the trainee will:
1.
2.
3.
4.
5.
Apply an appropriate testing strategy relevant to patients referred for paediatric disorders.
Perform appropriate whole genome analysis for patients referred for paediatric genomic testing.
Perform targeted testing for patients referred with paediatric genetic conditions.
Investigate the clinical significance of variants using a range of bioinformatics tolls, following current best practice guidelines.
Interpret and report a range of genetic and genomic testing relevant to paediatric conditions, including the results of diagnostic
testing, which should include appropriate recommendations for patient management.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:




Attend a genetics dysmorphology clinic or multidisciplinary (MDT) meetings and critically reflect on and review experiences
in terms of service delivery and patient investigations and management.
Attend a school for children with learning disabilities and critically reflect and discuss the interaction between the laboratory
services and facilities for children in terms of investigation and management, taking into account appropriate governance
issues, such as safeguarding children and young people.
Attend a ward round with a consultant geneticist/paediatrician and discuss the process and outcomes in relation to the
information and action points, resulting in your supervisor identifying the challenge of obtaining paediatric samples.
Contact with a patient group society/charity (e.g. attending a conference or open day). Reflect and report on the importance
and role of these organisations in patient care.
LABORATORY EXPERIENTIAL LEARNING
 Observe the laboratory quality management system and perform examination and other audits as part of the laboratory
accreditation process.
 Review a selection of archived cases, focussing on the laboratory results from earlier technology, including Southern
Blotting.
 Process a blood sample to obtain chromosome preparations suitable for analysis for patients with learning disabilities.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of every competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
1
COMPETENCES
Select the correct genetic test(s) for
samples from patients referred with
learning disability.
KNOWLEDGE AND UNDERSTANDING








2,4,5
Perform and interpret whole
genome analysis from patients with
learning disabilities.










The principal referral reasons that would indicate testing for each of the
conditions under investigation.
The clinical and scientific basis for the repertoire of genetic testing
available to investigate the common range of clinical referrals.
Ethical issues associated with patient consent.
The clinical utility of genetic testing in patients with learning disabilities.
The overlapping and complex testing pipelines where patients referred
with learning disability will often sit.
This analysis in the context of any previous genetic testing for the
patient.
The use of this test for other referral reasons (e.g. FRAX).
How to recognise the implications of genetic mosaicism in this group of
patients.
The technical pathway including its limitations and sensitivities, the
essential requirement for good laboratory practice and the risks.
How to identify and describe the potential for error, how this is
mitigated and its potential effects.
Best practice guidelines compared with laboratory practice and any
differences between the two.
Clinical and scientific aspects of chromosome disorders.
The use of digital, light and fluorescent microscopy.
The use of ISCN.
Internal and external quality assurance (QA) for chromosome analysis.
Local laboratory procedures for recording results of chromosome
analysis.
How to critically appraise relevant literature and databases.
The need for further genetic testing, e.g. fluorescence in situ
hybridisation (FISH), chromosomal mircroarrays.
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KEY
LEARNING
OUTCOMES
1,3,4,5
COMPETENCES
Select an appropriate reflex test and
the interpretation within the context
of the primary analysis.
KNOWLEDGE AND UNDERSTANDING




2,3,4,5
Perform the analysis and
interpretation of genomic dosage
and targeted analysis for the
detection of genome anomalies
associated with learning disability.






3,5
Interpret results from methylation
studies for PWS/AS syndrome.







The added value of targeted analysis (e.g. FISH, MLPA etc.)
The technical pathway including its limitations and sensitivities, the
essential requirement for good laboratory practice and the risks.
How to identify and describe the potential for error, how this is
mitigated and its potential effects.
Best practice guidelines compared with laboratory practice and any
differences between the two.
The technical pathway including its limitations and sensitivities, the
essential requirement for good laboratory practice and the risks.
Validation and verification of findings.
How to identify and describe potential for error, how is this mitigated
and its potential effects.
Best practice guidelines compared with laboratory practice and any
differences between the two.
Microarray data analysis and the use of relevant software.
Interpretation and classification of Copy Number Variation (CNVs)
according to best practice guidance.
The added value of referring for further testing.
The counselling issues (e.g. incidental findings).
The technical procedure including its limitations and sensitivities, the
essential requirement for good laboratory practice and the risks.
Identify and describe potential for error, how is this mitigated and its
potential effects.
Best practice guidelines compared with laboratory practice and any
differences between the two.
Internal quality parameters and use of interpretive software where
applicable.
MLPA methodology for the assessment of methylation status.
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KEY
LEARNING
OUTCOMES
4,5
COMPETENCES
Prepare full and accurate
interpretative clinical reports for
patients referred with learning
disabilities.
KNOWLEDGE AND UNDERSTANDING









1,3,4,5
Select the correct genetic tests for
patients referred with a suspected
neuromuscular disorder.





3,4,5
Perform dosage analysis on a

How to recognise all tests have been completed to a satisfactory
standard for the referral reason.
All information has been validated as correct.
Selection of correct report template for referral reason.
Recommendations for further referral (e.g. clinical genetics). Identify
the requirements for any follow up testing, the testing methods
available and the appropriate choice of test. Describe any limitations.
Use of correct scientific and clinical terminology.
Use of relevant databases and the literature in the interpretation of
results.
Communication of complex scientific information to clinicians and
patients.
Best practice guidelines compared with laboratory practice and any
differences between the two.
How to identify pertinent EQA schemes; their role and practice, how
these are incorporated into laboratory practice and ISO standards for
lab participation in EQA schemes.
The range of tests suitable for patients presenting with particular
neuromuscular symptoms.
The genetic alterations and genes responsible for a range of
neuromuscular disorders, e.g. B/DMD, DM and SMA.
The range of genetic testing relevant to diagnostic and
carrier/predictive testing for neuromuscular disorders.
The distinction between in-frame and out of frame dystrophin mutations
and the ability to interpret B/DMD testing results appropriately.
The use of linkage analysis (B/DMD and SMA) and the ability to
evaluate the risks of recombination.
Principles of the techniques, including limitations and sensitivity.
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KEY
LEARNING
OUTCOMES
COMPETENCES
patient sample referred for DMD or
SMA and analyse the result of
molecular testing using appropriate
software.
KNOWLEDGE AND UNDERSTANDING





5
4,5
Perform simple Bayesian analysis to
calculate carrier probability in
BMD/DMD and SMA.
Prepare a range of full and accurate
reports relevant to the referrals for
testing of neuromuscular disorders.












Internal and external quality control.
The quality parameters for the test.
Use of suitable analysis software.
How to recognise samples that require repeat testing or that have failed
testing.
Accurate recording of results of analysis following local laboratory
protocols.
The importance of accurate pedigree construction.
Calculation of an a priori and a posterior risk to an individual in a
pedigree of being affected with a disorder.
How to recognise all tests have been completed to a satisfactory
standard for the referral reason.
All information has been validated as correct.
Selection of correct report template for referral reason.
Recommendations for further referral (e.g. clinical genetics). Identify
the requirements for any follow up testing, the testing methods
available and the appropriate choice of test. Describe any limitations.
Use of correct scientific terminology.
Communication of complex scientific information to clinicians and
patients.
Best practice guidelines compared with laboratory practice and any
differences between the two.
How to identify pertinent EQA schemes; their role and practice, how
these are incorporated into laboratory practice and ISO standards for
lab participation in EQA schemes.
The calculation of residual probability following molecular testing
where appropriate.
Use of relevant databases and literature in the interpretation of results.
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KEY
LEARNING
OUTCOMES
3
COMPETENCES
Perform a PCR-based test to detect
common CFTR mutations.
KNOWLEDGE AND UNDERSTANDING






4,5
Prepare a range of full and accurate
interpretative clinical reports for
paediatric patients referred for
Cystic Fibrosis testing.










Principles of the technique, including limitations and sensitivity.
Internal and external quality control.
The quality parameters for the test.
Use of suitable analysis software.
How to recognise samples that require repeat testing or that have failed
testing.
Accurate recording of results of analysis following local laboratory
protocols.
How to recognise all tests have been completed to a satisfactory
standard for the referral reason.
All information has been validated as correct.
Selection of correct report template for referral reason.
Recommendations for further referral (e.g. clinical genetics). Identify
the requirements for any follow up testing, the testing methods
available and the appropriate choice of test. Describe any limitations.
Use of correct scientific and clinical terminology.
Use of relevant databases and literature in the interpretation of results.
Communication of complex scientific information to clinicians and
patients.
Best practice guidelines compared with laboratory practice and any
differences between the two.
How to identify pertinent EQA schemes; their role and practice, how
these are incorporated into laboratory practice and ISO standards for
lab participation in EQA schemes.
Implication of a positive result for other family members.
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MODULE 4
AIM
SCOPE
Adult Genetic and Genomic Disorders
(CG-4)
COMPONENT Specialist
To develop the skills to be able to apply genetic and genomic testing for adult patients with inherited
diseases and understand the implications these results may have for other family members.
During this module the trainee will gain experience of practical skills for a wide range of methodologies in
current clinical use. The trainee will be able to analyse and interpret the data generated using relevant
bioinformatics tools. They will compose clinical reports which satisfy all relevant guidelines. They will
understand the application of genetic and genomic testing relevant to this patient population, including
ethical, legal and social implications for the effective management of the patient and their family.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1.
2.
3.
4.
5.
6.
Apply an appropriate testing strategy relevant to patients referred for adult onset genetic and genomic disorders.
Perform appropriate level of whole genome analysis for patients with primary infertility.
Perform targeted testing for patients referred with adult onset genetic and genomic disorders.
Investigate the clinical significance of variants using a range of bioinformatics tools following best practice guidelines.
Interpret and report the range of genetic and genomic testing relevant to these adult onset genetic and genomic conditions.
Perform familial follow up studies including for variants of uncertain clinical significance, showing an understanding of the
presence of phenocopies.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:

Attend genetics clinics including a cancer genetics clinic, a pre-symptomatic clinic and a Huntington disease clinic. Review
and critically reflect on the role and importance of these clinics and their interaction with the genetics laboratory service.
Attend infertility clinics and identify at least one patient to follow through their investigation and management. Critically reflect
on the experience and discuss the outcomes and the role of these clinics, including the interaction with the laboratory services
with your supervisor.
Visit an assisted conception unit and critically reflect on your experience and the nature of partnership working between the
laboratory and clinical services.
Attend a neurology clinic or multidisciplinary team meeting and critically reflect on the role of these clinics in patient care and
the important aspects of partnership working with the genetics laboratory service.
Attend a physiotherapy clinic for patients with neuromuscular conditions and follow one patient’s management. Critically
reflect on the role of the genetics service in supporting patient care.
Attend and participate in MDT meetings. Review and reflect on the role of multidisciplinary working in genetics and its
importance for effective patient investigation, diagnosis and management.





LABORATORY EXPERIENTIAL LEARNING


Observe and reflect on the laboratory processes associated with next generation sequencing.
Observe MLPA. Review a selection of archived cases focussing on the laboratory results from earlier technology.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of every competence for each linked learning
outcome.
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PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
1
Select the correct genetic test(s) for
the patient samples referred for
adult conditions using the following
exemplars:
 Hypertrophic and dilated
cardiomyopathies
 Huntington disease
 Fragile X (FRAXA)
 Friedreich ataxia (FA)
 Cystic fibrosis
 CMT1A/HNPP
1
Select the correct genetic test(s) for
the patient samples referred for
adult conditions using the following
exemplars:
 Breast cancer
 Lynch syndrome
 Familial adenomatous
polyposis (FAP)
 The principal referral reasons that would indicate testing for each of
the conditions under investigation.
 The clinical, scientific basis for the repertoire of genetic testing
available to investigate the common range of clinical referrals.
 Ethical issues associated with patient consent including predictive
testing.
 The need for consent before testing and the implications for relatives
following a positive test result.
 The use of this test for other referral reasons (e.g. FRAXA).
 The clinical utility of genetic testing in patients with infertility,
neurogenetic and/or cardiomyopathy.
 The range of tests suitable for patients presenting with or having a
family history of particular neurological or muscular symptoms (e.g.
muscle weakness, myotonia, chorea, foot drop).
 The genetic alteration/genes associated with a range of adult onset
neurological and muscular disorders (e.g. HD, FA).
 The need for pre and post-test counselling for individuals undergoing
predictive (e.g. for HD) and carrier (e.g. Friedreich ataxia) testing.
 The utility of Next Generation Sequencing for this group of patients.
 The principal referral reasons that would indicate testing for each of
the conditions under investigation.
 The clinical and scientific basis for the repertoire of genetic testing
available to investigate the common range of clinical referrals.
 Ethical issues associated with patient consent including predictive
testing.
 How to recognise this type of genetic testing in relation to other clinical
referrals and laboratory testing.
 The range of genetic alterations/genes responsible and the tests
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING



2
Perform whole genome analysis for
patients referred for infertility.
4,5
Interpret results from chromosomal
analysis for patients referred for
infertility.








3
4,5,6
Perform a PCR-based test to detect 
common CFTR mutations.


Analyse, interpret and report on the 
most common CFTR mutations.



suitable for patients presenting with cancer.
The need for pre and post-test counselling for individuals with a family
history of cancer.
Application of appropriate methodologies that can be used to identify
different classes of mutation.
The application of pre-screening tests to select patients who require
full mutation analysis, e.g. MSI and IHC in colorectal cancer.
The utility of Next Generation Sequencing for this group of patients.
Whole genome analysis from patients with infertility.
Use of ISCN.
Best practice guidelines and QA for chromosome analysis (internal
and external).
Interpretation of results from chromosome analysis using relevant
online databases and literature.
Perform segregation analysis for patients with balanced translocations
and assess the risk of affected offspring.
How to critically appraise relevant literature and databases.
The need for further genetic testing, e.g. molecular analysis to detect Y
chromosome deletions.
The principles of the assay used and the limitations of the test.
Identification of samples that require repeating or further investigation.
Best practice guidelines and QA (both internal and external).
The relevance of polyT tract variants.
The implications for other family members of identifying a CFTR
mutation in an infertile male.
The implications of the genetic tests (including ethical, legal and social
implications) for the effective management of this group of patients.
The molecular pathogenesis of CFTR mutations in relation to
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING



5,6
Interpret FMR1 analysis in relation
to premature ovarian failure (POF).


5,6
Analyse and interpret the results of
laboratory tests to detect triplet
repeat expansions.


4,5
Analyse and interpret the results of
next generation sequencing for a
panel of genes related to adult
onset disorders, e.g. genes
associated with breast cancer,
Lynch syndrome or
cardiomyopathy.











congenital bilateral absence of the vas deferens (CBAVD).
The counselling issues associated with this referral group.
Implication of the CF result in other patient pathways, e.g. diagnostic
testing.
The integration of targeted mutation analysis associated with
screening protocols, with genetic testing for the same disease in other
care pathways.
The technical basis of detecting FRAXA premutation alleles.
The implications for other family members of identifying a FRAXA
premutation in a patient with POF.
The concept of phenocopies that might cause similar symptoms, e.g.
HD and the importance of these in interpreting the results of predictive
testing and in suggesting further diagnostic tests.
The difference between diagnostic and predictive/carrier testing and
the ability to interpret and report results accordingly.
Principles underpinning the technology used including its limitations.
Principles of different methods for library preparation.
Principles of different sequencing technologies.
Quality parameters.
Basis upon which variants identified in the germline are classified
according to their pathology.
Validation and verification of findings.
The need for confirmation testing.
Panels vs whole exome/genome analysis.
Principles of data storage.
How to assess the significance of unclassified variants using
appropriate bioinformatic tools.
Use of relevant literature and databases to interpret results.
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KEY
LEARNING
OUTCOMES
COMPETENCES
5,6
Analyse and interpret the results for
predictive or confirmation testing.
5,6
Prepare a range of reports relevant
to the referral reason.
KNOWLEDGE AND UNDERSTANDING
 The limitations of the available tools.
 Recognition of when it is necessary to perform further testing.
 Best practice guidelines.
 Use of automated software to analyse data.
 Use of HGVS to record sequence variation.
 Recognition of the appropriate quality standards for the results
obtained.
 Recognising all tests have been completed to a satisfactory standard
for the referral reason.
 All information has been validated as correct.
 Selection of correct report template for referral reason.
 Recommendations for further referral (e.g. clinical genetics). Identify
the requirements for any follow up testing, the testing methods
available and the appropriate choice of test. Describe any limitations.
 Use of correct scientific and clinical terminology.
 Use of relevant databases and literature in the interpretation of
results.
 Communication of complex scientific information to clinicians and
patients.
 Best practice guidelines compared with laboratory practice and any
differences between the two.
 How to identify pertinent EQA schemes; their role and practice, how
these are incorporated into laboratory practice and ISO standards for
lab participation in EQA schemes.
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MODULE 5
AIM
SCOPE
Genomics of Sporadic Cancers - (CG-5)
COMPONENT Specialist
To develop the skills to be able to apply genetic and genomic testing in sporadic adult cancers in delivering
diagnostic and prognostic information, and guiding management and treatment.
During this module the trainee will gain practical experience of the genetic and genomic analysis of a range of
haematological malignancies and solid tissue tumours. The trainee will be able to analyse and interpret all data
generated and will be able to compose clinical interpretative reports which will satisfy all relevant guidelines.
They will experience and understand a range of technologies associated with genetic and genomic testing in
sporadic cancer. They will understand the application of genetic and genomic testing relevant to this patient
cohort, particularly the difference between genetic and genomic testing in inherited disorders and in acquired
sporadic cancers where there are mixed cell populations and where selection of sample material, stage of
treatment and sensitivity of the assay are of paramount importance. The trainee will understand the ethical,
legal and social implications for the effective management of the patient.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1. Apply appropriate sample selection criteria, taking into account the implications of acquired sporadic cancer with respect to
sampling mixed cell populations, limits of detection, sensitivity of assay and patient management.
2. Apply an appropriate testing strategy for the commonly referred acquired sporadic cancers at all stages of the patient pathway.
3. Perform targeted testing for patients referred with sporadic cancer.
4. Perform whole genome testing for patients referred with sporadic cancer.
5. Analyse the results from genetic and genomic testing in acquired sporadic cancers.
6. Interpret and report a range of genetic and genomic testing relevant to acquired sporadic cancer.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:



Observe bone marrow sampling. Critically reflect on your observation and discuss the implications for sample management
with your supervisor.
Observe pathological dissection in histopathology and identify the implications for tissue sampling and mixed cell
populations.
Attend and participate in a relevant MDT and identify the role and importance of these in the management of patients and
the patient pathway.
LABORATORY EXPERIENTIAL LEARNING
Gain experience of the following and reflect on their importance, application and effect on patient management:
 FISH analysis using the appropriate probes.
 Chromosomal analysis on samples from patients with CML, ALL and AML.
 Appropriate molecular testing on various cancer samples to include both genotyping assays for single or small numbers of
mutations and NGS panels for “hot-spot” mutations.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of every competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
LEARNING
OUTCOMES
1,2
COMPETENCES
Select the correct genetics test for
patients referred with acquired
cancer.
 As examples: sporadic
colorectal cancer, lung cancer
and leukaemia (CML, ALL and
AML).
KNOWLEDGE AND UNDERSTANDING


•
•
•



•
1,2, 3
Perform gene fusion analysis using
appropriate current technology on
oncology samples.
 As examples: sporadic
colorectal cancer, lung cancer
and leukaemia (CML, ALL and
AML).



The principal referral reasons and guidelines in the cancer patient care
pathway.
Role of genetics testing in the diagnosis and treatment (clinical utility)
of acquired solid tumours (e.g. sporadic colorectal cancer and lung
cancer).
Role of genetics testing in the diagnosis of leukaemia.
The concept of minimal residual disease (MRD) and the utility of
genetic testing in disease treatment and monitoring.
The use of genetic testing in transplantation and chimerism monitoring.
Concept of Precision Medicine and the applicability of genetic testing in
guiding the treatment including the principles of cost effectiveness.
The requirement for adherence to Turnaround Times including, but not
limited to, those in national guidance such as Improving Outcomes
guidance.
The use and limitations of a range of sample types including formalin
fixed paraffin embedded material, fresh frozen tissue, cell free
circulating tumour DNA, bone marrow and peripheral blood.
Wide but high level knowledge of different technologies and their
application to enable appropriate decisions regarding processing and
testing.
Rearrangements and translocations commonly associated with solid
tissue cancer and named leukaemic types, as well as their clinical
significance.
Principles of main technologies (apart from chromosome analysis –
see below) utilised in the identification of rearrangements associated
with cancer.
Use of appropriate nomenclature for reporting gene fusions according
to the technology utilised.
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING

1,2,4
1,2,3
Perform whole genome analysis on
samples from patients with
leukaemia at diagnosis.
 Examples CML, ALL and AML.
Perform appropriate molecular
testing on various cancer samples.













1,2,3
Perform appropriate genetic testing
for monitoring and measurement of
disease in relation to both
treatment and prognosis.



Best practice guidelines for gene fusion analysis technologies in
cancer patients (internal and external QA).
Use of ISCN for malignancy analysis.
The local guidance for whole genome analysis from patients with
Leukaemia.
Best practice guidelines, national/international guidance and QA
(external and internal).
Selection and analysis in mixed cell populations.
Validation and verification of findings
Prognostic and diagnostic genetic markers.
Principles underpinning current methods of mutation detection and
genetic changes.
The use and limitations of a range of sample types to analyse tumour
DNA.
Hot-spot mutation and multiple gene panel analysis associated with a
number of cancer types.
Utility and limitations of whole genome sequencing.
Appropriate use of controls.
Sensitivity of different testing methodologies and the relevance to
mixed cell populations.
The use of HGVS guidance for reporting of sequence variation in
acquired disease.
The principles of technologies used to monitor patients for response to
treatment and recurrence of disease.
The sensitivity and specificity of different technologies in the different
diseases and associated limitations in use.
The importance of genetic testing in monitoring disease and the
importance of factors such as TAT.
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KEY
LEARNING
OUTCOMES
5,6
COMPETENCES
Interpret and report on a range of
genetic testing in haematological
malignancy, including both
diagnostic and follow-up
(monitoring) analysis.
KNOWLEDGE AND UNDERSTANDING













Interpretation of results including diagnostic and treatment
recommendations, taking into account the relationships between
chromosome abnormalities/genetic markers, other testing
modalities and clinical diagnosis.
Use and critical appraisal of relevant literature and online
databases.
Role of multidisciplinary team (MDT) meetings and guidelines such
as Improving Outcomes Guidance and NICE Guidelines.
The role of large scale national and international projects focussed
on acquired disease.
Recognising that all tests have been completed to a satisfactory
standard for the referral reason.
All information has been validated as correct.
Selection of correct report template for referral reason.
Recommendations for further referral (e.g. clinical genetics).
Identify the requirements for any follow up testing, the testing
methods available and the appropriate choice of test. Describe any
limitations.
Use of correct scientific and clinical terminology.
Use of relevant databases and literature in the interpretation of
results.
Communication of complex scientific information to clinicians and
patients.
Best practice guidelines compared with laboratory practice and any
differences between the two.
How to identify pertinent EQA schemes; their role and practice, how
these are incorporated into laboratory practice and ISO standards
for lab participation in EQA schemes.
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SECTION 7: SPECIALIST LEARNING FRAMEWORK: GENOMIC
COUNSELLING
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STP Learning Framework
This section describes the Learning Framework for the Specialist Component of work based learning
covering the Learning Outcomes, Clinical Experiential Learning, Competence and Applied Knowledge
and Understanding. Each trainee is also expected to build on and apply the knowledge, skills and
experience gained from the MSc in Clinical Science.
Specialist Modules
DIVISION
THEME
SPECIALISM
Life Science
Genomic Sciences
Genomic Counselling
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GENOMICS: SPECIALIST MODULES
Module 1 (GC-2)
Counselling and communication skills for Genetic
Counsellors
Module 2 (GC-3)
Applied Genetics and Genomics in Clinical Care
Module 3 (GC-4)
Advanced Counselling and Ethical Practice for
Genetic Counsellors
Module 4 (GC-5)
Applied Genomics and Bioinformatics in Clinical Care
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MODULE
AIM
SCOPE
Counselling and communication skills for
Genetic Counsellors (GC-2)
COMPONENT
Specialist
This module will provide the trainee with practice based learning to fulfill the counselling competencies
required for successful completion of 2nd year clinical rotations.
In the work-based module trainees will be expected to observe and participate in genetic and genomic
consultations, applying effective counselling skills to meet the psychological, social and cultural needs of
individuals and their families. The trainee will develop a range of effective, patient-centred communication
skills for use in a professional environment.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1.
2.
3.
4.
Apply core and advanced counselling skills within genetic and genomic counselling consultations under supervision.
Elicit and interpret appropriate medical, family and psychological history in a sensitive and culturally appropriate manner.
Facilitate individual/couple and family decision-making under direct supervision.
Refer individuals and/or families to other support agencies when this is required.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:




Prepare for and participate in counselling supervision and reflect on this experience.
Audio or video record two consultations for review of counselling competencies, discussing the consultations with your
supervisor.
Observe and participate in, and describe the breadth of practice, in a range of genetic counselling consultations.
Participate in CPPD activity and reflect on learning, e.g. attendance at psychosocial meeting such as the European Meeting
on Psychosocial Aspects of Genetics (EMPAG, the Association of Genetic Nurses and Counsellors (AGNC) annual meeting,
International meeting on the psychosocial aspects of hereditary cancer (IMPahcc), Antenatal Results and Choices (ARC)
workshops).
All of these experiences should be recorded in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of every competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
COMPETENCES
LEARNING
OUTCOMES
1,2
Identify the patient’s agenda for
three trainee led genetic counselling
consultations taking into account the
concerns and priorities for the
individual/couple and/or family.
KNOWLEDGE AND UNDERSTANDING








1,2
Interpret the medical, family and
psychological history provided by an
individual.



1
Recognise the adaptation process
individuals and families may go
through as they adjust to their
genetic situation.


1
Reflect on the use of a range of
communication and counselling
skills through audio and/or video,
recording two consultations, with
patient’s consent, with a GCRB
Registered Genetic counsellor.









Counselling theory.
Core skills (empathy, congruence, warmth).
Advanced skills (advanced empathy, concreteness, challenge).
Active listening skills to elicit this information.
Ability to establish a good rapport with the individual/family and reflect on
how this was achieved.
Factors that may influence communication such as age, capacity,
language and learning ability.
Act in accordance with GCRB Code of Conduct.
Act in accordance with the HCPC and their standards of proficiency for
clinical practice.
Take a three-generation family history.
Use of active listening skills to elicit this information.
Knowledge of genetic condition and medical information to interpret
family history information provided.
Active listening skills to elicit this information.
Ability to establish a good rapport with individual/family and reflect on
how this was achieved.
Models of grief and loss.
Support mechanisms.
Family communication.
How to recognise different response such as guilt and shame.
Active listening skills.
Clarification skills.
Reflection and summary skills.
Appropriate use of empathic statements.
Ability to establish a good rapport with the individual/family and reflect on
how this was achieved.
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KEY
LEARNING
OUTCOMES
COMPETENCES
1
Reflect and prepare two cases for
discussion at supervision and/or
mentor meetings and develop an
action plan for future patient
interaction.
1,3
Provide non-directive genetic and
genomic counselling in a supportive
manner, in a case where preconceptual choices are being
discussed with an individual or
couple at increased risk of having a
pregnancy affected with a genetic
condition.
KNOWLEDGE AND UNDERSTANDING












1
Critically reflect on a case in
supervision that focuses on the
counselling relationship in a traineeled consultation.





Act in accordance with GCRB Code of Conduct.
Effective use of counselling supervision.
Reflective practice.
GCRB Code of Conduct.
HCPC and their standards of proficiency for clinical practice.
Ethical issues (e.g. predictive testing for an individual at 25% risk where
intervening parent does not want to know genetic status; non-disclosure
within a family).
Reproductive options.
Counselling strategies to facilitate the couple’s decision making.
Counselling strategies to facilitate the couple’s adjustment to this
decision.
Counselling skills including:
o Active listening skills
o Clarification skills
o Reflection and summary skills
o Appropriate use of empathic statements
o Ability to establish a good rapport with the individual/family and
reflect on how this was achieved
Act in accordance with GCRB Code of Conduct.
Act in accordance with the HCPC and their standards of proficiency for
clinical practice.
Effective use of counselling supervision.
Reflective practice.
GCRB Code of Conduct.
HCPC and their standards of proficiency for clinical practice.
Issues around the counselling relationship including:
o transference and counter transference
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LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING

1
In a trainee led consultation, identify
and respond to the emerging needs
of the patient or family within the
consultation.




2
In a trainee-led consultation, provide 
information using a different mode
of communication, taking into

account any language or cultural
differences (e.g. interpreter, use of
counselling aids).
3
Use counselling strategies to
facilitate patients' decision-making
when considering whether to have a
predictive/pre-symptomatic genetic
test in a trainee-led consultation.


o Managing patient expectations
How an appreciation of these issues can enhance the process of genetic
counselling.
Flexible nature of the genetic counselling agenda and how this can lead
to a shift in priorities, in order to respond to the needs of the individual or
family.
The impact of a changing agenda on the rest of the consultation.
How to explain and manage timeframes (e.g. when samples for genetic
testing will be taken, when to expect results).
How the individual and/or family may respond to the changing nature of
the agenda.
How to provide genetic counselling appropriately to patients from a
diversity of social, economic and cultural backgrounds.
Implications of individual and family experiences, beliefs, values and
culture on understanding genetic concepts.
 How an appreciation of cultural diversity translates to the way genetic
counselling services are offered and their uptake.
 Use of interpreters or arrangements required for individuals with
visual or hearing impairment.
Counselling skills to:
o empower individuals to consider their options
o assess the individual’s understanding of the decision
o elicit individual’s motivation and preferences for predictive/presymptomatic genetic testing.
Other sources of support for the individuals including:
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LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
o other agencies (e.g. for psychological support, mental health
services).
o Patient support groups.
SPIKES framework: The six-step protocol for delivering bad news.
Responses to loss associated with genetic diagnosis or risk.
GCRB Code of Conduct.
HCPC and their standards of proficiency for clinical practice.
1
Observe a result giving genetic
counselling appointment and reflect
on the appointment with respect to
the SPIKES framework.




1
Deliver a bad news result following
an adult carrier test under direct
supervision by a GCRB Registered
Genetic Counsellor.
Assist in the referral of an individual
and/or family to other health or
social care professionals.
 Counselling techniques in breaking bad news.
 SPIKES framework: The six-step protocol for delivering bad news.
 Clinical context of carrier test results and impact on reproductive choices.
4
 Professional boundaries.
 Identifying patients at psychological risk for early intervention.
 Referral pathways to other agencies, e.g. mental health teams as
appropriate.
 Safeguarding children, young people and vulnerable adults.
 Patient support services.
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MODULE
AIM
SCOPE
Applied Genetics and Genomics in Clinical
Care (GC-3)
COMPONENT Specialist
This module will provide the trainee with the knowledge base of most commonly referred or encountered
genetic and genomic conditions. It will equip trainees with the foundation skills to apply this knowledge to
clinical case management.
Trainees will be able to deliver clinical genetic and genomic counselling sessions under supervision. This will
include clinical history taking, pedigree construction, risk estimation, specification, interpretation and delivery
of test results for a defined range of genetic mechanisms and conditions (see exemplars). Trainees will also
be able to transfer these skills to new clinical situations.
LEARNING OUTCOMES
Trainees will work under supervision to gain experience across the range of clinical genetic referrals including prenatal, paediatric,
adult and cancer genetic counselling clinics.
On successful completion of this module the trainee will:
1. Plan, structure, deliver and appropriately document Genetic Counsellor consultations of a less complex nature.
2. Organise and interpret appropriate genetic investigations in the context of risk assessment and patient clinical management.
3. Synthesise and critically analyse the literature (including clinical guidelines and pathways) to compile information on the
aetiology and clinical presentation of a range of genetic and genomic disorders.
4. Communicate genetic information to individuals and their families referred across a range of clinical situations including
prenatal, paediatric, adult (including cancer), being sensitive to patient’s information needs and the psychosocial and cultural
context of the counselling session.
5. Use a multidisciplinary approach, including clinical supervision and teamwork to support the diagnosis and management of
genetic and genomic disease, referral of patients and appreciate the context of genetic and genomic conditions within wider
healthcare management of patients.
6. Provide information about potential research projects that patients may be eligible to join.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:


Undertake a range of work activities that involve working in partnership between the clinical genetic counselling service and
other clinical specialisms in the care of the patient and investigation of their condition. Reflect and report on the importance
of this partnership approach to the patient experience of investigation, treatment and management.
Observe a range of clinics and interventions from the following clinical specialties; breast, bowel, gynaecology oncology
clinic, cardiology, reproductive medicine clinic, fetal medicine clinic and medical termination of pregnancy facilities. Reflect
and report on the cases seen and the similarities and differences in practice, focussing between these specialties and
clinical genetics.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of every competence for each linked learning
outcome.
It is expected that across the specialist rotations, the trainee will be taught and have practical experience of a broad range of
genetic conditions, demonstrating differing genomic mechanisms. Each trainee is encouraged to keep a case log during their
training (expected minimum cases would be 50) to include: a brief description of the case and the specific skills utilised, including
highlighting module specific work based competencies, such as diagnosis, management, risk assessment, family impact and
decision making as well as application of counselling theory and practice. This case log can be recorded in your e-portfolio as part
of your evidence of clinical experiential learning. Many of these cases may also be used as evidence for the trainee’s competency
log.
In the list below, conditions highlighted in bold illustrate the breadth of conditions to be experienced and should be seen as minimal
exemplars. Trainees are encouraged to experience a wide range of conditions and build transferable skills.
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
























22q11 deletion
Achondroplasia
Anencephaly
Angelman syndrome
Cleft lip
Cowden Syndrome
Cri du chat
Cystic Fibrosis
Diabetes
Down syndrome
Duchenne Muscular Dystrophy (DMD)
Fragile X
Haemochromatosis
Hereditary breast and ovarian cancer, colon cancer syndromes
Huntington Disease
Hypercholesterolaemia
Hypertrophic and dilated cardiomyopathy, cardiac arrhythmias
Klinefelter syndrome
Myotonic dystrophy
Neurofibromatosis Type 1 and Type 2 (NF1/2)
Phenylketonuria (PKU)
Retinitis pigmentosa (RP)
Spinal Muscular Atrophy (SMA)
Syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
Tuberous sclerosis (TS)
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PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
COMPETENCES
LEARNING
OUTCOMES
1,3
Prepare for a range of clinical
appointments through identifying,
synthesising, organising and
summarising relevant information
about the genetic condition in
question.
1,3
1
1
Prepare for a clinical appointment
where the genetic condition in
question is one in which the trainee
has not encountered before.
Elicit and accurately interpret the
medical, family and psychological
history for three consultations and
illustrate this through the drawing of
a pedigree.
Collect and maintain accurate
genetic records in accordance with
NHS and professional standards.
KNOWLEDGE AND UNDERSTANDING
 For the core exemplar conditions listed above, the:
o aetiology
o pathophysiology
o genetic mechanisms
o clinical features
 Commonly encountered medical terminology including that relevant to
dysmorphology and cancer genetic histopathology.
 Access relevant literature.
 Genetic mechanisms including mutations and inheritance.
 General principles of aetiology, pathophysiology, genetic mechanisms.
 Medical history information needed for genetic risk assessment of
different genetic conditions.
 Pedigree symbols.
 Obtaining consent to request medical records from family members.
 How to develop rapport with the patient in clinic, counselling techniques
such as open questions, unconditional positive regard, empathy and the
ability to elicit a good clinical and psychosocial history.
 Pathways to request diagnostic information from a variety of sources.
 Clinical phenotype and family history.
 Commonly encountered medical terminology including that relevant to
dysmorphology and cancer genetic histopathology.
 Local and national policies regarding data security, such as Caldicott
Guardian, personal identifiable information, data protection legislation and
data-sharing arrangements.
 The systematic approach to collecting and maintaining comprehensive
and accurate records that detail the rationale underpinning any
interventions.
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KEY
LEARNING
OUTCOMES
COMPETENCES
1,4
Convey clinical and genetic
information to patients appropriate
to their individual needs.
3,4
Synthesise information about a
genetic condition in a format to
support patient understanding, e.g.
counselling aide or leaflet.
1,4
Review a range of post clinical
summary letters and assess, from
the point of view of a service user,
the clarity of the message and the
tone of written communication.
Prepare post clinic summary letters,
including the appropriate use of
interpretive comments and limits of
responsibilities.
Make appropriate and accurate
genetic risk assessment.
1,4
1
1,2
Order appropriate investigations
KNOWLEDGE AND UNDERSTANDING
 Confidentiality and security of written and verbal information.
 Information about the genetic disorder.
 Needs of different patient groups, such as their values, religious and
cultural beliefs and preferences and how to assess a client’s needs.
 Confidentiality and security of written and verbal information.
 Commonly encountered medical terminology including that relevant to
dysmorphology and cancer genetic histopathology.
 Information needs and understanding of different groups of patients,
including different learning styles.
 How to structure and prioritise the provision of information appropriate to
the individual’s needs.
 Provide a clear written summary of the information, using alternate
formats for individuals with different communication needs.
 Trust and departmental guidelines for letter writing.
 Plain English.
 Adaption of language, style and format depending on individual needs.
 Trust and departmental guidelines for letter writing.
 Plain English.
 Adaption of language, style and format depending on individual needs.
 Risk assessment methods such as pedigree analysis, computer models,
Bayes theorem and use in different clinical situations (e.g. genetic risk,
personal risk, recurrence risk and risk to family members).
 Risk assessment methods for cancer families and when to use these
appropriately.
 Genetic tests available for different genetic conditions and clinical
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KEY
LEARNING
OUTCOMES
1,2,4
1,3,4
3
3,5
5
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
across a breadth of conditions and
review how these results have
affected patient care or altered the
care pathway.
situations.
 Procedure to order genetic tests.
 How different genetic test results will affect patient care or alter the care
pathway for different genetic conditions.
Explain options to patients including
risks, benefits and limitations. This
includes genetic risk assessment
and the appropriate interpretation of
genetic and clinical knowledge.
Deliver, under supervision, three
genetic counselling consultations for
a range of less complex clinical
situations (e.g. reproductive, adult,
cancer) applying clinical skills
appropriate to the situation and
ensuring patient centred care.
Disseminate evidence of good
practice and service improvement
through verbal and written media,
following a critical analysis of
current evidence.
Act as a resource of information on
genetic conditions and genomic
science for other healthcare
professionals and/or PPI activities
(e.g. speaking at patient support
group meetings).
Establish effective working
 Genetic risk assessment and possible options to manage identified risk
based on best evidence and clinical judgement.
 How to construct an agenda for the consultation.
 How to prioritise information according to individual’s needs.
 How to devise a clinical action plan and appropriate follow-up.
 Literature review.
 Clinical audit.
 Aetiology, pathophysiology, genetic mechanisms and clinical features of
genetic conditions.
 The importance of PPI in service development and clinical practice, role
of patient support groups for signposting patients.
 Multi-disciplinary working in the interpretation of an unusual or complex
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KEY
LEARNING
OUTCOMES
COMPETENCES
relationships to function within a
multidisciplinary team and as part of
the wider health and social care
network.
KNOWLEDGE AND UNDERSTANDING





5
5
5
6
6
laboratory report.
The organisational and clinical care requirements to promote seamless
care and interventions in partnership with the client, their family,
appropriate care providers and members of the multi-disciplinary team.
How to facilitate communication by establishing a strong multidisciplinary
network of professional and lay colleagues.
Services that would provide information and support to clients and details
offered to the client as appropriate and/or at the clients’ request.
Strategies to enable effective service delivery at local and regional level.
Barriers to effective service delivery and propose mechanisms for their
resolution.
Awareness of relevant professional standards.
Guidelines and local resources.
Address issues regarding conflicts

of confidentiality through appropriate 
use of professional standards and
guidelines.
Recognise own professional
 Limitations to practice and how and when to refer on to other specialities.
boundaries (working within own
 The duty to seek professional advice if standards of care are threatened.
practice capability), seeking clinical
 Reflective practice, which informs future clinical interactions.
supervision and referring on when
 Accessing counselling/clinical supervision (AGNC definition of clinical
needed.
supervision) to underpin and enhance practice.
Assist in presenting cases in clinical  Case presentation skills.
meetings
 Succinct summarising of pertinent clinical and psychosocial information.
Identify appropriate research
 The role of research in the clinical context.
projects relevant for different patient  Identify relevant research studies and provide information about research
groups.
to patients.
 The process for NHS research, ethical approval and how to determine if
projects have such approval.
Complete Good Clinical Practice
 Informed consent.
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KEY
LEARNING
OUTCOMES
6
COMPETENCES
Training Programme and apply this
in practice.
Provide information about relevant
research projects to eligible
individuals.
KNOWLEDGE AND UNDERSTANDING
 Governance and responsibilities in research.
 Good Clinical Practice Training Programme and relevance to genetic
counselling practice.
 The importance of research to inform clinical guidelines and evidence
based practice.
 Patient–centred approach to discussing relevant research projects.
 Principle of informed consent for research subjects.
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MODULE
AIM
SCOPE
Advanced Counselling and Ethical Practice
for Genetic Counsellors (GC-4)
COMPONENT
Specialist
This module will provide the trainee with practice based learning to develop their communication skills and
support the delivery of high quality, compassionate and patient-centred genetic and genomic counselling.
This module builds on the knowledge and skills acquired in the counselling and communication skills module
in Year 2. It will also provide the trainee with an appreciation of the ethical issues that arise in genetic and
genomic counselling practice, in addition to the ways in which these may be approached and managed.
In their work-based learning trainees will develop the skills to deliver safe, high quality genetic and genomic
counselling and will manage a genetic and genomic counselling caseload safely and effectively. They will
demonstrate their skills in shared decision making, risk communication and supporting patients/clients with
family communication about genetic information. They will also effectively use critical reflection and
supervision in genetic counselling practice.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1. Lead on establishing the patient agenda and psychosocial needs in complex genetic and genomic counselling consultations,
under the supervision of an experienced Genetic Counsellor5.
2. Facilitate complex decision making during genetic and genomic counselling consultations.
3. Communicate genetic test results in an empathic manner.
4. Use counselling supervision and multidisciplinary meetings to work through ethical and cultural issues in genomic
counselling practice.
5
GCRB Registered Genetic Counsellor
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:
For the following activities participate, reflect on and describe the benefits of Genetic Counsellor involvement:



Attend multidisciplinary clinical meetings where the trainees’ patients are discussed.
Participate in departmental audit and service evaluation activities and present findings.
Present cases at departmental meetings.
Manage a range of genetic and genomic counselling cases covering a disparate range of conditions, e.g. prenatal, dysmorphic
child, cancer risk assessment and pre-symptomatic testing. Reflect on the range of counselling approaches used, the nature of
information given, identifying where things were done well and what could have been done differently to achieve a better outcome
for the patient.
Prepare and deliver a presentation on psychosocial and/or ethical issues to peers and reflect on this experience.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of every competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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KEY
COMPETENCES
LEARNING
OUTCOMES
1
Negotiate effectively with the
individual about what is to be
achieved in three genetic
counselling consultations, taking in
to account the concerns and
priorities of the
individual/couple/family, as well as
what can realistically be delivered.
1,2,3,4
Assess an individual’s psychological
state and refer as needed.
KNOWLEDGE AND UNDERSTANDING








1,2,3,4
Assess an individual’s social
support needs and refer
appropriately.





2
Provide information appropriately
regarding genetic testing options in
a trainee led consultation.

Active listening skills to elicit this information.
Ability to establish a good rapport with the individual/family and reflect
on how this was achieved.
Factors that may influence communication such as age, capacity,
language and learning ability.
How to explain and manage timeframes (e.g. when samples for genetic
testing will be taken and when to expect results).
Act in accordance with GCRB Code of Conduct.
How to explore individuals’ psychological needs in genetic counselling
consultations.
How to identify individual patients at psychological risk for early
intervention and/or referral to other agencies as appropriate.
Referral pathways for appropriate agencies, such as mental health
services.
Safeguarding children, young people and vulnerable adults.
Safeguarding children, young people and vulnerable adults.
How to explore individuals’ social support needs in genetic counselling
consultations.
Appropriate social support resources for individuals, e.g. patient support
groups.
Contact details to patients for appropriate social support resources, e.g.
patient support groups.
Options available (e.g. risk management, genetic testing and
reproductive options) including:
 Alternative options and the legitimacy of each
 The pros (benefits) and cons (risks) of the alternatives, taking
account of patients’ concerns and personal circumstances
 The uncertainties associated with the available options
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KEY
COMPETENCES
LEARNING
OUTCOMES
1,2
Elicit an individual’s preference for
genetic testing options in a trainee
led consultation.
KNOWLEDGE AND UNDERSTANDING




How to assess the individual’s understanding of the decision.
How to elicit individual preferences for risk management options (e.g.
cancer risk management).
How to elicit patient preferences for reproductive options.
How to elicit patient preferences for predictive / pre-symptomatic genetic
testing.
Information regarding the potential outcomes of a genetic test to identify
the underlying cause for their condition.
How to explore with patients their anticipated response to the potential
outcomes of a genetic test to identify the underlying cause of their
condition.
Prepare an individual for the
potential outcomes of a diagnostic
genetic test in a trainee led
consultation.

1,2,3
Prepare an individual for the
potential outcomes of a prenatal
genetic test in a trainee led
consultation.


Information regarding the potential outcomes of a prenatal genetic test.
How to explore with patients their anticipated response to the potential
outcomes of a prenatal genetic test.
1,2,3
Prepare an individual for the
potential outcomes of a
predictive/pre-symptomatic genetic
test in a trainee led consultation.

Information regarding the potential outcomes of a predictive or presymptomatic genetic test.
How to explore with patients their anticipated response to the potential
outcomes of a predictive or pre-symptomatic genetic test.
Communicate genetic test results
appropriately in a trainee-led
consultation.

1,2,3
3





Implications of the genetic test results for diagnosis/prognosis and
reproductive options.
How to communicate genetic test results in an empathic manner.
How to communicate genetic test results with clarity about the
boundaries of certain/uncertain information.
How to communicate genetic test results taking into account patients’
current concerns and health literacy.
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KEY
COMPETENCES
LEARNING
OUTCOMES
3
Deliver a bad news result following
a predictive and/or prenatal test,
reflective on the family context and
circumstance under supervision.
KNOWLEDGE AND UNDERSTANDING





1,3
1,2,3,4
Facilitate and support disclosure of
genetic information to family
members in a trainee led
consultation.

Reflect on how a client’s beliefs and
values have influenced their
response to genetic counselling and
testing and how you responded to
this in a trainee led consultation.






1,4
Identify ethical and/or cultural issues 
raised in five observed genetic

counselling consultations.


Counselling techniques for delivering bad news.
Implications of the genetic test results for diagnosis/prognosis and
reproductive options.
How to communicate genetic test results in an empathic manner.
How to communicate genetic test results with clarity about the
boundaries of certain/uncertain information.
How to communicate genetic test results taking into account patients’
current concerns and health literacy.
Ensure communication channels are available in the family for disclosure
of genetic information to at risk family members.
How to discuss these options with the individual.
Support disclosure of genetic information to family members using direct
and indirect methods.
How to elicit patients’ beliefs and values in relation to genetic counselling
and/or testing.
How an individual’s beliefs and values may influence their response to
genetic counselling.
How an individual’s beliefs and values may influence their response to
genetic testing.
How an individual’s beliefs and values in relation to genetic counselling
and/or testing can contribute to delivering better quality genetic
counselling to them.
Ethical theory vs ethical governance.
Different frameworks for thinking about ethics (e.g. normative ethics,
consequentialism, deontology, bioethics).
Professional codes of conduct (e.g. AGNC, GCRB and HCPC and their
standards of proficiency for clinical practice).
How an individual’s beliefs and values may influence their response to
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KEY
LEARNING
OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING

4
4
Utilise genetic counselling
supervision to work through a
specific ethical issue raised within a
trainee-led consultation.








Utilise genetic counselling
supervision to work through a
specific cultural issue raised within a
trainee-led consultation


4
4
Use the multidisciplinary team in the
management and resolution of
ethical issues raised by clinical
cases.
Assist in addressing ethical issues
raised in three clinical appointments





genetic testing.
How an individual’s beliefs and values in relation to genetic counselling
and/or testing can contribute to delivering better quality genetic
counselling to them.
Ethical theory vs ethical governance.
Different frameworks for thinking about ethics (e.g. normative ethics,
consequentialism, deontology, bioethics).
Critical reflective practice.
Effective use of counselling supervision.
GCRB Code of Conduct.
HCPC and their standards of proficiency for clinical practice.
Providing genetic counselling to diverse groups.
Cultural perspectives and contexts in relation to science, genetics and
disease.
How an individual’s beliefs and values may influence their response to
genetic testing.
How an individual’s beliefs and values in relation to genetic counselling
and/or testing can contribute to delivering better quality genetic
counselling to them.
Recognition of boundaries in the management and resolution of ethical
issues raised by these clinical cases.
How the multidisciplinary team can be used in the clinical management
and resolution of ethical issues raised by these clinical cases.
Ethical issues that may be raised within the context of a genetic
counselling appointment.
Ethical theory vs ethical governance.
Different frameworks for thinking about ethics (e.g. normative ethics,
consequentialism, deontology, bioethics).
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COMPETENCES
KNOWLEDGE AND UNDERSTANDING




1, 2, 3, 4
Critical reflection about own
attitudes, beliefs and values in
relation to disability and culture and
how this could influence practice.



Effective use of counselling supervision.
GCRB Code of Conduct.
HCPC and their standards of proficiency for clinical practice.
How critical reflection about the ethical issues raised can aid in
addressing the ethical issues.
Relevant codes of ethical conduct.
How to provide genetic counselling appropriately to patients from a
diversity of social, economic and cultural backgrounds.
The role of the genetic counsellor and other health professionals, e.g.
interpreters in providing genetic counselling appropriately to patients
from a diversity of social, economic and cultural backgrounds.
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MODULE
Applied Genomics and Bioinformatics in
Advanced Clinical Care (GC-5)
COMPONENT
Specialist
AIM
This module will provide the trainee with applied knowledge of the role of genomic testing in establishing a
genetic diagnosis. They will develop the expertise to support the diagnostic process (as part of a multidisciplinary
team approach) through exploration of the relationship between genotype and phenotype.
SCOPE
They will develop an understanding of how their knowledge of genomics, the patient’s phenotype and the family
can contribute constructively, together with expertise from clinical geneticists, clinical scientists and other
specialist colleagues, along with determining the pathogenicity of variants.
In their work-based learning they will further develop the skills to support advanced genetic and genomic
counselling practice and will demonstrate their ability to autonomously handle cases that include pre-symptomatic
testing, prenatal diagnosis, cascade screening and the management of rare and complex genetic disease.
LEARNING OUTCOMES
On successful completion of this module the trainee will:
1. Lead, under supervision, complex consultations involving genetic testing in complex scenarios and consultations involving
the use of genomic technologies.
2. Contribute Genetic Counsellor expertise to multidisciplinary teams (MDT) by assimilating knowledge of patient pathways in a
range of healthcare settings with genomics expertise.
3. Discuss very rare and/or complex genetic and genomic conditions with patients in an easy to understand format centred on
the needs of the patient.
4. Advise patients and professionals on the current and potential future use of genomic screening for risk prediction, including
in multifactorial disease, explaining the benefits and limitations of such approaches.
5. Prepare, deliver and evaluate teaching sessions in genetics and genomics for healthcare colleagues using a range of
teaching methods.
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CLINICAL EXPERIENTIAL LEARNING
The clinical experiential learning for this module is:
 Present a complex case within a multidisciplinary review meeting, lead the discussion and critically reflect on the experience
and importance of a multidisciplinary approach for the patient pathway.
 Use bioinformatics tools and databases by replicating the process for interpretation of one or more variants identified through
genomic testing.
 Observe multidisciplinary team clinics across a range of specialisms, for example fetal medicine, cardiology, paediatrics,
endocrinology, assisted reproduction, neurology, ophthalmology or oncology and reflect on the role of the Genetic Counsellor.
 Develop an appreciation of genomic testing through recruitment of patients to genomic testing projects including gaining
informed consent.
 Assist in a genetics community, school or patient engagement event and critically reflect on the teaching and facilitation skills
required.
All of these experiences should be recorded in your e-portfolio.
The following section details the competence, knowledge and understanding each trainee must gain. Each competence is linked to
the relevant learning outcomes and trainees must demonstrate achievement of every competence for each linked learning
outcome.
PROFESSIONAL PRACTICE
Trainees should ensure they refer to the professional practice learning framework and continue to achieve the professional practice
competences alongside the competences defined in this module.
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OUTCOMES
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
1
Prepare and deliver advanced
genetic counselling for three
complex scenarios including presymptomatic testing, prenatal
testing and cascade testing.
 Presymptomatic testing.
 Prenatal testing.
 Cascade testing taking into account complex issues around family
communication.
1
Prepare and deliver advanced
genomic counselling consultations
involving the use of genomic
technologies in a range of rare and
complex conditions.
 Use and limits of genomic technologies.
 Incidental findings.
 The way genomic results and diagnoses can influence personalised
medicine, pharmacogenetics and other therapeutics including gene
therapy.
1,2
Synthesise and critically analyse
literature from reputable sources to
compile information on the clinical
presentation and course of a range
of rare and/or complex inherited
diseases and established clinical
phenotypes, in readiness for three
consultations.
 Literature sources for researching the natural history of rare diseases
including:
o OMIM
o Orphanet
o Gene Reviews
o expert opinion
o eurogentest;
o PubMed and
o support groups such as Unique etc.
1,3
Synthesise and relay condition-and
life-stage-specific information to
patients in five consultations, using
appropriate language and
communication aids where
applicable.
 Information on specific conditions from a range of sources and how to
Within a consultation, describe the
 Usual diagnostic tests in these settings.
3
appraise the value of the information obtained for the patient/family.
 Communication of information relating to whole-person and life-long care.
 Use of appropriate language.
 Use of educational aids, information leaflets and summary letters.
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existing non-genomic diagnostic
pathways within reproductive,
paediatric and adult settings.
 Interpretation of non-genomic tests within the MDT to reach a diagnosis
(histology, scans and clinical history).
 Potential therapeutic advantages of a diagnosis.
 Benefits and limitations of approaches compared to, and in combination
with, genomic tests.
2
Observe the work of experienced
genetic counsellors in an MDT in an
adult, paediatric and reproductive
setting.
 MDTs in a range of settings, e.g. fetal medicine, oncology, neurology,
cardiology, ophthalmology.
 The specific benefits and challenges of genomics in a range of settings
including in paediatrics, cardiology, oncology, ophthalmology,
dermatology, ENT, endocrinology, neurology and the MDT in these
settings.
 The diagnostic odyssey.
 The benefits and limitations of genetic and genomic testing in care
pathways.
1, 2
Support the use of genomic testing
within the diagnostic pathway in a
range of body systems and life
stages.
 Single gene, panel, targeted or open whole genome approaches in these
settings.
 Patient perspectives on available approaches and likely future demand.
 Current projects and research available to access broader genomic or
other omics testing.
 Benefits and limitations of different approaches.
1, 2
Ascertain relevant family history and
psychosocial information and
contribute to the use of this
alongside medical information to
determine appropriate genomic
testing approaches within MDT
settings.
 How to ascertain family beliefs, values, dynamics and intentions.
 Appropriate genomic testing strategies applied to a range of genetic
conditions (prenatal, paediatric and adult settings, including oncology).
 Ethical challenges relating to establishing a family diagnosis from
genomic results.
 How these factors will influence the selection of testing strategies and
further studies to support interpretation, e.g. segregation studies.
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 Inheritance patterns and the impact of non-penetrance and variable
phenotypes.
 Digenic and biallelic inheritance.
 The role of the genetic counsellor and other members of the MDT in
communicating uncertain information, variants of uncertain significance
and incidental findings.
1
Describe, in MDTs or consultations,
the way results of genomic tests are
generated and filtered, as well as
the challenges and limitations of
bioinformatics techniques.
 Current sequencing approaches.
 Alignment of sequence to the reference genome.
 Calling and annotating of sequence variants, including variant




1, 2, 3
1, 2
classification.
Filtering strategies to identify pathogenic mutations in sequencing data.
Approaches to determining pathogenicity of variants (population
frequency, conservation of sequence, association with disease in
established datasets, in silico tools and functional data).
Use of databases (such as ClinVar, OMIM, Decipher, ExAC).
Language appropriate to patients.
Provide advanced genetic
counselling input for management of
genomic test results in the
reproductive setting.
 The specific challenges relating to genomics in the fetal medicine clinic.
 Diagnostic challenges of prenatal tests and the contribution of antenatal
Synthesise patient
information/medical records with
information gained from
exome/whole genome analysis to
 How to recognise important information on the clinical phenotype and
scanning, NIPT and invasive prenatal diagnosis (CVS, amniocentesis,
fetal blood sampling).
 The role of the Genetic Counsellor and other members of the MDT in
communicating uncertain information, variants of uncertain significance
and incidental findings.
family history.
 How to utilise this alongside published medical literature in an MDT
setting to inform interpretation of variant pathogenicity.
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1, 4
4
5
COMPETENCES
KNOWLEDGE AND UNDERSTANDING
determine diagnosis, penetrance or
prognosis for three examples of
common and/or rare inherited
conditions [phenotype to genotype].
 Current bioinformatics tools used by clinical scientists in bioinformatics in
Within three genomic counselling
sessions, describe, in lay terms,
how genomic tests contribute to
management of a range of
conditions, both currently and how
this is anticipated in future
healthcare.
 The utility of a genomic diagnosis in establishing treatment strategies and
Explain, to service users and/or
professionals, the principal of
genomic screening and the specific
challenges this presents.
 Current application of genomic screening for risk prediction in the NHS
Observe and reflect on educational
sessions for a range of non-genetic
health professionals, facilitating
widespread genetics and genomics
knowledge. This may include
educational sessions delivered at
both undergraduate and post
graduate level.
 Theoretical approaches to adult learning.
 Differing learning styles.
 Modes of education delivery including different teaching resources.
 Evaluation methods for feedback from audience.
the interpretation of variants and how this is applied within genetic
counselling consultations.
 In silico tools and literature for pathogenicity evaluation, as well as
familiarity with the statistical programmes to support this.
personalised medicine, including in oncology, adult medicine, paediatrics
and prenatal settings.
 Examples of emerging interventions:
o Non-invasive prenatal diagnosis
o Current techniques in preimplantation genetic diagnosis
o Current and anticipated future uses of therapeutics such as
pharmacogenetics and gene therapy, in addition to other emerging
therapies.
(e.g. in specific ethnic groups or populations) and the influence of private
and direct to consumer testing on the NHS.
 Challenges of risk prediction in multifactorial disease.
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5
Deliver and reflect on an
educational session for a group of
non-genetic health professionals at
undergraduate level. May include
education on family history taking,
management of specific genetic
conditions, or genomic test results
including ethical and psychosocial
issues.
5
Deliver and reflect on an
educational session for a group of
non-genetic health professionals at
postgraduate level. May include
education on family history taking,
management of specific genetic
conditions or genomic test results
including ethical and psychosocial
issues. This may include
educational sessions delivered at
both undergraduate and post
graduate level.
KNOWLEDGE AND UNDERSTANDING
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SECTION 8: CONTRIBUTORS
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Contributor List
Members of the STP MSc and Work Based Programme Life Sciences: Genomic
Sciences
Development of the STP curriculum (MSc Clinical Sciences and Work-Based
programme) for Genomic Sciences has been coordinated by the Health Education
England (HEE) Genomics Education Programme, the National School of Health
Care Science and the Modernising Scientific Careers team. The professionals who
have contributed to the development of this revised and extended STP in Genomic
Science in 2015-16 include:
Jennie Bell
Caroline Benjamin
Michelle Bishop
Laura Boyes
George Burghel
National School of Healthcare Science
University of Central Lancashire
HEE Genomics Education Programme
Birmingham Women’s NHS Foundation Trust
Central Manchester University Hospitals NHS Foundation
Trust
Ann Dalton
Sheffield Children’s NHS Foundation Trust
Lorraine Gaunt
Central Manchester University Hospitals NHS Foundation
Trust
Georgina Hall
Manchester Centre for Genomic Medicine
Lowri Hughes
Birmingham Women’s NHS Foundation Trust
Helen Jolley
Manchester Centre for Genomic Medicine
Anna Middleton
Wellcome Trust Sanger Institute, Cambridge
Marion McAllister
Cardiff University
Rhona MacLeod
Manchester Centre for Genomic Medicine
Christine Patch
Guy’s and St Thomas’ NHS Foundation Trust Hospital
Eileen Roberts
Southmead Hospital, Bristol
Heather Skirton
Plymouth University
Alison Taylor-Beading Great Ormond Street NHS Foundation Trust
A wider, stakeholder review of this curriculum was undertaken in January 2016
providing professional bodies, patients/patient groups and other stakeholders the
opportunity to provide feedback to shape final publication in May 2016.
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SECTION 9: APPENDICES
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APPENDIX 1: GLOSSARY
Term
Definition
Clinical experiential
learning
The cyclical process linking concrete experience with
abstract conceptualisation through reflection and
planning.
Clinical experiential
learning outcomes
The activities that the trainee will undertake to enable
and facilitate their learning in the workplace.
Competence
The ability of an individual to perform a role consistently
to required standards, combining knowledge,
understanding, skills and behaviour.
Competence
statements
Active and outcome-based statements that provide a
further breakdown of the Learning Outcomes – reflecting
what the trainee will be able to do in the workplace at the
end of the programme. Each competence should be
linked back to the numbered Learning Outcomes.
Component
An indication of the type of module within a learning
guide, i.e. rotational, specialist or elective.
Curricula
An outline of the expected educational outcomes across
a subject area. The learning that is expected to take
place during the Scientist Training Programme described
in terms of knowledge, skills and attitudes.
Division
A high-level description of an area of practice within
healthcare science. There are three divisions: Life
Sciences, Physical Sciences, and Biomedical
Engineering and Physiological Sciences.
Domains of learning
Cognitive (knowledge and intellectual skills), affective
(feelings and attitudes), interpersonal (behaviour and
relationships with others) and psychomotor (physical
skills).
Feedback
Specific information about the comparison between a
trainee’s observed performance and a standard, given
with the intent of improving the trainee’s performance
(van de Ridder JMM, Stokking KM, McGaghie WC and
ten Cate OT. What is feedback in clinical education?
Medical Education 2008: 42: 189–197).
Genetics
The study of hereditary.
Genomics
The study of genes and their functions, as well as related
techniques.
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Genomic Healthcare
The use of genomic information and technologies at any
stage of the healthcare continuum to determine disease
risk and predisposition, diagnosis and prognosis, and the
selection and prioritisation of therapeutic options.
Genomic healthcare also takes into account the potential
ethical, psychological and social implications of genomic
information and the application of genomic technologies.
Good Scientific
Practice
Non-statutory guidance on the minimum requirements for
good practice for the healthcare science workforce.
Host department
The department that is responsible for the three-year
training programme and in which the training officer is
based.
Job
A specific definition of the work activities, requirements
and skills required to undertake work activities within a
local context. This differs from a role – see below.
Key learning
outcome
A defined learning outcome linked to relevant
competence(s) within the workplace Learning Guide.
Knowledge and
understanding
The knowledge and understanding that must be applied
in the workplace to achieve the stated competence.
Learning framework
The specification for work-based learning contained
within the Learning Guide.
Learning module
A distinct set of learning outcomes and competences
that form part of a programme. Modules may be
rotational, specialist, elective or professional practice and
can be combined to meet the needs of specific
programmes.
Learning outcome
A high-level, outcome-based statement that describes
what a trainee will be able to do at the end of the
module.
Mentoring
Mentoring is a process in which a trainer (mentor) is
responsible for overseeing the career and development
of the trainee. The emphasis is therefore on the
relationship (rather than the activity).
Module aim
The overall objective of a work-based learning module –
defining the intended learning achievements of the
trainee. The aim works together with the ‘Scope’
statement to define the overall objectives and scope of
the module.
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Module scope
A statement within work-based learning modules that
defines the range/limits of the learning undertaken by the
trainee in a module – patients/ investigations/ equipment/
modalities etc.
National
Occupational
Standards
Nationally recognised standards of expected workplace
performance and level of competence for a role. The
standards are outcome based, defining what the role
holder should be able to do, as well as what they must
know and understand to demonstrate competent work
performance. National Occupational Standards are
supported by nationally agreed frameworks of expected
attitudes, behaviour and skills.
Practical skill
A cognitive, psychomotor, physical or communicative
ability that supports performance of the required role.
Programme
The package of learning, teaching assessment and
quality assurance leading to an award.
Provider
An organisation that delivers required training and
learning activities to specified quality assurance
requirements.
Role
A collection of functions undertaken in the workplace that
represent the main broad areas of work for all similar
workers at national level. A role differs from a job, the
latter being defined specifically for a local context.
Specialism
A focused area of practice within a theme of healthcare
science.
Sporadic cancer
Cancer that occurs in people who do not have a family
history of that cancer or an inherited change in their DNA
that would increase their risk of that cancer.
Trainer
A qualified individual who provides learning and
development support for trainees.
Theme
A cluster of related specialisms within a division of
healthcare science.
Work-based learning
Learning that takes place in a real work setting and
involves the application of academic learning to real work
activities.
Work performance
The requirements of satisfactory and consistent
demonstration of competence in specified functions for a
work role.
Workplace
A real work setting in which the trainee can apply
learning.
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APPENDIX 2: GOOD SCIENTIFIC PRACTICE
Good Scientific Practice
Section 1: The purpose of this document
There are three key components to the Healthcare Science workforce in the UK:
1. Healthcare Science Associates and Assistants who perform a diverse range
of task based roles with appropriate levels of supervision.
2. Healthcare Science Practitioners have a defined role in delivering and
reporting quality assured investigations and interventions for patients, on
samples or on equipment in a healthcare science specialty, for example
Cardiac Physiology, Blood Sciences or Nuclear Medicine. They also provide
direct patient care and more senior Healthcare Science Practitioners develop
roles in specialist practice and management.
3. Healthcare Scientists are staff that have clinical and specialist expertise in a
specific clinical discipline, underpinned by broader knowledge and experience
within a healthcare science theme. Healthcare Scientists undertake complex
scientific and clinical roles, defining and choosing investigative and clinical
options, and making key judgements about complex facts and clinical
situations. Many work directly with patients. They are involved, often in lead
roles, in innovation and improvement, research and development, and
education and training. Some pursue explicit joint academic career pathways,
which combined clinical practice and academic activity in research, innovation
and education.
This document sets out the principles and values on which good practice undertaken
by the Healthcare Science workforce is founded.
Good Scientific Practice sets out for the profession and the public the standards of
behaviour and practice that must be achieved and maintained in the delivery of work
activities, the provision of care and personal conduct.
Good Scientific Practice uses as a benchmark the Health Professions Council (HPC)
Standards of Proficiency and Standards of Conduct, Performance and Ethics, but
expresses these within the context of the specialities within Healthcare Science,
recognising that three groups of the workforce, Biomedical Scientists, Clinical
Scientists and Hearing Aid Dispensers are regulated by the HPC. The aim is that the
standards are accessible to the profession and understandable by the public.
Good Scientific Practice represents standards and values that apply throughout an
individual’s career in healthcare science at any level of practice. The standards will
be contextualised by the role within Healthcare Science that an individual
undertakes. This means that the standards must be interpreted based on the role
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that an individual performs. For example, in supervised roles where individuals work
within defined procedures, rather than autonomously, some standards will need to
be interpreted appropriately for the context of the specific role. There will, however,
always be a requirement for an individual to work within the limits of their scope of
practice and competence.
Students and trainees will be expected to be working towards meeting the
expectations set out in this document. However, if an individual is undertaking further
training and development following qualification from a professional training
programme, he or she will be expected to be able to meet the standards in this
document within their scope of practice.
The standards have been used to support curriculum development and will be used
to underpin the process of judging individual equivalence, particularly for emerging
specialisms.
The standards have been divided into five domains. The domains of Good Scientific
Practice detailed in section 2 are:
1.
2.
3.
4.
5.
Professional Practice
Scientific Practice
Clinical Practice
Research and Development
Clinical Leadership
Section 2: The Domains of Good Scientific Practice
Domain 1: Professional Practice
All patients and service users are entitled to good standards of professional
practice and probity from the Healthcare Science workforce, including the
observance of professional codes of conduct and ethics. In maintaining your
fitness to practise as a part of the Healthcare Science workforce, you must:
1.1
Professional Practice
1.1.1 Make the patient your first concern
1.1.2 Exercise your professional duty of care
1.1.3 Work within the agreed scope of practice for lawful, safe and effective
Healthcare Science
1.1.4 Keep your professional, scientific, technical knowledge and skills up to date
1.1.5 Engage fully in evidence-based practice
1.1.6 Draw on appropriate skills and knowledge in order to make professional
judgements
1.1.7 Work within the limits of your personal competence
1.1.8 Act without delay on concerns raised by patients or carers or if you have
good reason to believe that you or a colleague may be putting people at
risk
1.1.9 Never discriminate unfairly against patients, carers, or colleagues
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1.1.10 Treat each patient as an individual, respect their dignity and confidentiality
and uphold the rights, values and autonomy of every service user, including
their role in the diagnostic and therapeutic process and in maintaining
health and wellbeing
1.1.11 Respond constructively to the outcome of audit, appraisals and
performance reviews, undertaking further training where necessary
1.2
Probity
1.2.1 Make sure that your conduct at all times justifies the trust of patients, carers
and colleagues and maintains the public’s trust in the scientific profession
1.2.2 Inform the appropriate regulatory body without delay if, at any time, you
have accepted a caution, been charged with or found guilty of a criminal
offence, or if any finding has been made against you as a result of fitness
to practise procedures, or if you are suspended from a scientific post, or if
you have any restrictions placed on your scientific, clinical or technical
practice
1.2.3 Be open, honest and act with integrity at all times, including but not limited
to: writing reports, signing documents, providing information about your
qualifications, experience and position in the scientific community, and
providing written and verbal information to any formal enquiry or litigation,
including that relating to the limits of your scientific knowledge and
experience
1.2.4 Take all reasonable steps to verify information in reports and documents,
including research
1.2.5 Work within the Standards of Conduct, Performance and Ethics set by your
profession
1.3
Working with Colleagues
1.3.1 Work with other professionals, support staff, service users, carers and
relatives in the ways that best serve patients’ interests
1.3.2 Work effectively as a member of a multidisciplinary team
1.3.3 Consult and take advice from colleagues where appropriate
1.3.4 Be readily accessible when you are on duty
1.3.5 Respect the skills and contributions of your colleagues
1.3.6 Participate in regular reviews of team performance
1.4
Training and Developing Others
1.4.1 Contribute to the education and training of colleagues
1.4.2 If you have responsibilities for teaching, develop the skills, attitudes and
practices of a competent teacher
1.4.3 Ensure that junior colleagues and students are properly supervised
1.4.4 Support colleagues who have difficulties with performance, conduct, or
health
1.4.5 Share information with colleagues to protect patient safety
1.4.6 Provide work-based development for colleagues to enhance/improve skills
and knowledge
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Domain 2: Scientific Practice
As a part of the Healthcare Science workforce, you will keep your scientific and
technical knowledge and skills up to date to effectively:
2.1
Scientific Practice
2.1.1 Develop investigative strategies/procedures/processes that take account of
relevant clinical and other sources of information
2.1.2 Provide scientific advice to ensure the safe and effective delivery of
services
2.1.3 Undertake scientific investigations using qualitative and quantitative
methods to aid the screening, diagnosis, prognosis, monitoring and/or
treatment of health and disorders appropriate to the discipline
2.1.4 Investigate and monitor disease processes and normal states
2.1.5 Provide clear reports using appropriate methods of analysing, summarising
and displaying information
2.1.6 Critically evaluate data, draw conclusions from it, formulate actions and
recommend further investigations where appropriate
2.2
Technical Practice
2.2.1 Provide technical advice to ensure the safe and effective delivery of
services
2.2.2 Plan, take part in and act on the outcome of regular and systematic audit
2.2.3 Work within the principles and practice of instruments, equipment and
methodology used in the relevant scope of practice
2.2.4 Demonstrate practical skills in the essentials of measurement, data
generation and analysis
2.2.5 Assess and evaluate new technologies prior to their routine use
2.2.6 Identify and manage sources of risk in the workplace, including specimens,
raw materials, clinical and special waste, equipment, radiation and
electricity
2.2.7 Apply principles of good practice in health and safety to all aspects of the
workplace
2.2.8 Apply correct methods of disinfection, sterilisation and decontamination,
and deal with waste and spillages correctly
2.2.9 Demonstrate the appropriate level of skill in the use of information and
communications technology
2.3
Quality
2.3.1 Set, maintain and apply quality standards, control and assurance
techniques for interventions across all clinical, scientific and technological
activities
2.3.2 Make judgements on the effectiveness of processes and procedures
2.3.3 Participate in quality assurance programmes
2.3.4 Maintain an effective audit trail and work towards continuous improvement
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Domain 3: Clinical Practice
As a part of the Healthcare Science workforce, you will keep your clinical skills up
to date and undertake the clinical duties appropriate to your role in order to
effectively:
3.1
Clinical Practice
3.1.1 Ensure that you and the staff you supervise understand the need for and
obtain relevant consent before undertaking any investigation, examination,
provision of treatment, or involvement of patients and carers in teaching or
research
3.1.2 Ensure that you and the staff you supervise maintain confidentiality of
patient information and records in line with published guidance
3.1.3 Ensure that you and your staff understand the wider clinical consequences
of decisions made on your actions or advice
3.1.4 Demonstrate expertise in the wider clinical situation that applies to patients
who present in your discipline
3.1.5 Maintain up-to-date knowledge of the clinical evidence base that underpins
the services that you provide and/or supervise and ensure that these
services are in line with the best clinical evidence
3.1.6 Plan and determine the range of clinical/scientific investigations or products
required to meet diagnostic, therapeutic, rehabilitative, or treatment needs
of patients, taking account of the complete clinical picture
3.1.7 Plan and agree investigative strategies and clinical protocols for the optimal
diagnosis, monitoring and therapy of patients with a range of disorders
3.1.8 Ensure that detailed clinical assessments are undertaken and recorded
using appropriate techniques and equipment, and that the outcomes of
these investigations are reviewed regularly with users of the service
3.1.9 Ensure the provision of expert interpretation of complex and/or specialist
data across your discipline in the context of clinical questions posed
3.1.10 Undertake and record a detailed clinical assessment using appropriate
techniques and equipment
3.1.11 Provide specialised clinical investigation and/or analysis appropriate to your
discipline
3.1.12 Provide interpretation of complex and/or specialist data in the context of the
clinical question posed
3.1.13 Provide clinical advice based on results obtained, including a diagnostic or
therapeutic opinion for further action to be taken by the individual directly
responsible for the care of the patient
3.1.14 Provide expert clinical advice to stakeholders in order to optimise the
efficiency and effectiveness of clinical investigation of individuals and
groups of patients
3.1.15 Prioritise the delivery of investigations, services, or treatment based on
clinical need of patients
3.1.16 Represent your discipline in multidisciplinary clinical meetings to discuss
patient outcomes and the appropriateness of services provided
3.1.17 Ensure that regular and systematic clinical audit is undertaken and be
responsible for modifying services based on audit findings
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3.2
Investigation and Reporting
3.2.1 Plan and conduct scientific, technical, diagnostic, monitoring, treatment and
therapeutic procedures with professional skill and ensuring the safety of
patients, the public and staff
3.2.2 Perform investigations and procedures/design products to assist with the
management, diagnosis, treatment, rehabilitation, or planning in relation to
the range of patient conditions/equipment within a specialist scope of
practice
3.2.3 Monitor and report on progress of patient conditions/use of technology and
the need for further interventions
3.2.4 Interpret and report on a range of investigations or procedures associated
with the management of patient conditions/equipment
Domain 4: Research, Development and Innovation
As part of the Healthcare Science workforce, research, development and
innovation are key to your role. It is essential in helping the NHS address the
challenges of the ageing population, chronic disease, health inequalities and rising
public expectations of the NHS. In your role, you will undertake the research,
development and innovation appropriate to your role in order to effectively:
4.1
Research, Development and Innovation
4.1.1 Search and critically appraise scientific literature and other sources of
information
4.1.2 Engage in evidence-based practice, participate in audit procedures and
critically search for, appraise and identify innovative approaches to practice
and delivery of healthcare
4.1.3 Apply a range of research methodologies and initiate and participate in
collaborative research
4.1.4 Manage research and development within a governance framework
4.1.5 Develop, evaluate, validate and verify new scientific, technical, diagnostic,
monitoring, treatment and therapeutic procedures and, where indicated by
the evidence, adapt and embed them in routine practice
4.1.6 Evaluate research and other available evidence to inform own practice in
order to ensure that it remains at the leading edge of innovation
4.1.7 Interpret data in the prevailing clinical context
4.1.8 Perform experimental work, produce and present results
4.1.9 Present data, research findings and innovative approaches to practice to
peers in appropriate forms
4.1.10 Support the wider healthcare team in the spread and adoption of innovative
technologies and practice
Domain 5: Clinical Leadership
All patients and service users have a right to expect that Healthcare Science
services efficiently and effectively managed to meet service needs. As a leader in
Healthcare Science, you will seek to effectively:
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5.1
Leadership
5.1.1 Maintain responsibility when delegating healthcare activities and provide
support as needed
5.1.2 Respect the skills and contributions of your colleagues
5.1.3 Protect patients from risk or harm presented by another person’s conduct,
performance, or health
5.1.4 Treat your colleagues fairly and with respect
5.1.5 Make suitable arrangements to ensure that roles and responsibilities are
covered when you are absent, including handover at sufficient level of
detail to competent colleagues
5.1.6 Ensure that patients, carers and colleagues understand the role and
responsibilities of each member of the team
5.1.7 Ensure that systems are in place through which colleagues can raise
concerns and take steps to act on those concerns if justified
5.1.8 Ensure regular reviews of team performance and take steps to develop and
strengthen the team
5.1.9 Take steps to remedy any deficiencies in team performance
5.1.10 Refer patients to appropriate health professionals
5.1.11 Identify and take appropriate action to meet the development needs of
those for whom you have management, supervision, or training
responsibilities
5.1.12 Act as an ambassador for the Healthcare Science community
Good Scientific Practice AHCS V.2 Final
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APPENDIX 3: FURTHER INFORMATION
NHS Networks
An open network to share curricula produced for the Modernising Scientific Careers
programme. Join this network to get updates whenever there is new content.
www.networks.nhs.uk/nhs-networks/msc-framework-curricula/
Details of the Scientist Training Programme, including MSc Clinical Science
Curricula, Work Based Learning Guides.
www.networks.nhs.uk/nhs-networks/msc-framework-curricula/stp
Council of Healthcare Science in Higher Education (CHS)
The Council of Healthcare Science in Higher Education builds a unified identity of
academic healthcare science by representing the interests of the sector. Working to
improve and maintain quality in healthcare science education and training, the
Council itself is made up of senior members of the academic healthcare science
team. The work of the Council is also informed by two special interest groups
comprised of staff involved in the delivery and implementation of the Modernising
Scientific Careers programme. The Scientist Training Programme Special Interest
Group brings together the providers of the MSc level programme.
www.councilofhealthcarescience.ac.uk/
National School of Healthcare Science (NSHCS)
The National School of Healthcare Science is an important part of the new system
for healthcare science training established through Modernising Scientific Careers.
This new system was set up to ensure that patients benefit from scientific and
technical advances by ensuring that healthcare science staff have the knowledge
and skills to put these advances into practice.
www.nshcs.org.uk
Academy for Healthcare Science (AHCS)
The Academy for Healthcare Science (AHCS) is a UK wide organisation bringing
together a diverse and specialised scientific community working within the National
Health Service (NHS) and other associated organisations. These organisations
include the Health Protection Agency, NHS Blood and Transplant, Health and Social
Care Northern Ireland (HSCNI) and the academic and independent healthcare
sector.
www.academyforhealthcarescience.co.uk/
Health and Care Professions Council (HCPC)
The HCPC is a regulator set up to protect the public. It keeps a register of health
professionals who meet the HCPC standards for their training, professional skills,
behaviour and health.
www.hpc-uk.org/
Last accessed 30 May 2013
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