What’s a
family worth?
HEART UK FH GIT TOOLKIT
1.0 Guide to using the toolkit
Executive Summary
This section contains the following information:
1.1 Summary of each section
1.2 How to use this toolkit
1.3 Other useful resources
1.1 Summary of each section
Section 1: Guide to using the toolkit
This includes a summary of each section, and information
on how to use the toolkit to implement FH services
in your area.
Section 2: Background
Section 2 provides some background information to
the condition, as well as the key elements of the NICE
guideline. A list of key influencers is also included.
Section 3: Service Specification
The first step towards implementing the NICE guideline
is to set out the specifications for FH services for
the purposes of local commissioners and healthcare
professionals. It is important to specify which elements
already exist within the local area (for example,
regional genetics services, specialised lipid clinics, etc).
A strategic plan or business case should be produced
to demonstrate how these different elements can be
brought together to provide a comprehensive service.
This section includes examples of strategic plans that have
been submitted in three regions of the country. One has
been prepared by a group of geneticists who are leading
implementation of the NICE guideline in the North East.
The second is included with thanks to the West Yorkshire
Cardiac Network. The third is a report prepared for South
Central Cardiovascular Network.
Since work on this toolkit began, the Department
of Health has also undertaken to develop a Primary
Care Service Framework for FH. This will be included
in section 3 of the toolkit once it is made available
(anticipated to be March 2010).
Section 4: Diagnosis
This is an overview of the protocols for diagnosing
FH in patients, including the criteria for making a clinical
diagnosis of FH. It also includes information on DNA testing
and LDL-C concentration measurements, recognising
clinical signs of FH, and the differences in diagnosing
adults and children.
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family worth?
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Guide to using the toolkit
Section 5: Cascade testing
Implementing cascade testing for FH is a key component
of the NICE guideline. Relatives of FH patients have up
to a 50% of chance of inheriting the condition, meaning
targeted testing of this high-risk group should be carried
out to establish whether they also have FH.
This section includes an overview of the methods and
documents required for contacting relatives; template
documents for contacting practitioners; a section on
cataloguing and maintaining family files; and guide
by the National Genetics Education and Development
Centre on Taking and Drawing a Family History.
Section 6: Governance and Protocol
This section contains a number of useful documents
for managing the ongoing FH services in your area.
This includes standard operating procedures, resources
for conveying information to patients, and information on
governance and responsibilities within a comprehensive
FH service.
1.2 How to use this toolkit
This toolkit is intended to aid implementation of NICE
Clinical Guideline 71, Identification and management
of familial hypercholesterolaemia (FH).
The toolkit is divided into six sections, which are designed
to work in combination or in isolation.
The toolkit can be used to help set up the service in its
entirety, or to assist with implementation of various elements
of the service. It includes a number of template documents,
which can be used or adapted to suit local needs.
The sections run in chronological order, starting with
example documents for setting up the service, putting
in place the various elements needed, and through
to its ongoing management.
Sections 4 – 6 are based on the key elements of the
NICE guideline, specifically around diagnosis, identifying
people with FH through cascade testing and information
needs and support for patients. Reference is also made to
management of the condition for adults, children and young
people, and ongoing assessment and diagnosis, although
we would recommend that you refer to the NICE guideline
for more specific information on these issues.
Each section comprises a summary, with reference to the
specific section of the NICE guideline; an explanation of
the documents included in each section; and a number
of example or template documents to assist with the
administration of the service.
1.3 Other useful resources
In addition to the documents contained within this
toolkit, you may also find the following resources
to be of use for implementing services for FH.
NICE guidance:
• NICE Clinical Guideline: Identification and
management of familial hypercholesterolaemia
(FH) (CG71).
• NICE quick reference guide: Identification and
management of familial hypercholesterolaemia (FH).
• NICE Technology Appraisal: Statins for prevention
of cardiovascular events in people at increased risk
of developing cardiovascular disease or those with
established cardiovascular disease (TA 94).
• NICE Technology Appraisal: Ezetimibe for the
treatment of primary (heterozygous-familial and
non-familial) (TA132).
• NICE Clinical Guideline: Secondary prevention in
primary and secondary care for patients following a
myocardial infarction. NICE clinical guideline. NICE
clinical guideline 48 (CG48).
• NICE Public Health Intervention Guidance: Brief
interventions and referral for smoking cessation
in primary care and other settings (PH10).
• NICE Clinical Guideline: Cardiovascular risk
assessment: the modification of blood lipids for the
primary and secondary prevention of cardiovascular
disease. NICE clinical guideline (CG67).
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Guide to using the toolkit
HEART UK resources:
• Recommendations to the Department of Health from
the Steering Group of the DH FH Cascade Testing
Audit Project.
HEART UK has produced a range of advice sheets that
you may find useful. These are available using the following
links:
• Screening & Management of Hypercholesterolaemia
in Childhood.
• Metabolic Syndrome.
• Family History.
• Diagnostic criteria for Familial Hypercholesterolaemia.
• How HEART UK Support Primary Care (pdf).
• The metabolic consequences of pregnancy for mother
and child.
Information on the HEART UK FH Guideline
Implementation team and the following presentations:
• Key elements of the NICE FH guideline and HEART
UK FHGIT activities
Dr Jonathan Morrell.
• FH guidelines in practice: findings from DH pilot and
RCP audit
Professor Steve Humphries.
• Preparing a commissioning bid for the FH guideline
– the NE experience
Dr Michael Wright.
• FH database management: the Welsh experience
Dr Yee Ping Teoh and Kate Haralambos.
• The patient experience: cascade testing in action
Kenneth Henthorn and Dr Dermot Neely.
Other publications:
Identification and management of familial
hypercholesterolaemia: what does it mean to primary care?
Authors: Qureshi, Nadeem; Humphries, Steve E; Seed,
Mary; Rowlands, Philip; Minhas, Rubin1; NICE Guideline
Development Group.
Source: British Journal of General Practice, Volume 59,
Number 567, October 2009 , pp. 773-778(6) Publisher:
Royal College of General Practitioners.
NHS Evidence – genetic conditions. Annual Evidence
Update on Familial Hypercholesterolaemia (published
14 December 2009).