Regional Genetic
Service Center Models
Recommendation Brief
st
March 31 , 2016
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Table of Contents
Executive Summary
Introduction
Background
Identification of Needs
Identification of Priorities
Review of Regional Centers Serving Individuals with Various Genetic Disorders
Center Models
Recommendations
Recommendation 1: Genetic Services Support Center Model
Recommendation 2: Regionalized Structure for Future Programs
Recommendation 3: Central Coordination Provides a Key Function
Recommendation 4: Function of Genetic Services Support Centers within the
Healthcare Delivery System and the Role of Public Health
Recommendation 5: Provision of Non-Genetics Provider Education
Recommendation 6: Data Collection
Recommendation 7: Address lack of mental health services for individuals and
families affected by or at risk for genetic disorders
Recommendation 8: Support for increasing the number of physicians geneticists,
genetic counselors and other highly-specialized providers for treatment of genetic
disorders
Conclusion
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Table 1: Identified Priorities based on National Needs Assessments
Table 2: MCH Pyramid- Identified Priorities
Table 3: Models Pros/Cons/Priorities Table
Table 4: Recommended Genetic Services Support Center Model
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Appendix A: Regional Support Service Model Workgroup and Advisory Committee Membership
Appendix B: “Bucketed” Needs Developed at the 2014 NCC/RC Project Director/Project Manager
Annual Meeting
Appendix C: Reference Literature
Appendix D: List of Centers, Review Template, and Review Findings
Appendix E: Findings and Themes from Center Reviews
Appendix F: Potential Measures for the Proposed RSSM Workgroup Models as Discussed
by the NCC Evaluation Workgroup
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Executive Summary
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Beginning in June 2015, the National Coordinating Center for the Regional Genetic Service Collaboratives (NCC)
undertook a project to consider what models for future regional genetic service centers might look like. This
project built upon listening sessions held January through July 2015, national needs assessments of healthcare
providers (primarily genetics) and consumers completed in December 2015, and a robust volunteer workgroup
and advisory committee that guided a comprehensive review of existing regional models. This recommendation
brief contains the considered and thoughtful work of the Regional Support Services Model Workgroup (RSSM
WG) and the Regional Support Services Model Advisory Committee (RSSM AC) (see appendix A for membership
list), both led by Dr. Celia Kaye.
Through the RSSM WG and AC, eight models were identified and reviewed; these models are detailed within this
report, including their respective pros/cons, the identified priorities they address, time lines, and potential
outcomes. There are significant workforce issues in the genetics profession (e.g., geographic maldistribution;
unfilled positions across disciplines -MD, PhD, Genetic Counselor, nurse, and Dietitian, etc.) that the WG
determined that a regional support service center would be unable to address within likely funding levels. The
RSSM WG and AC chose instead to focus on models that would enhance efficient genetics practices first.
To address the problem of efficient practice, the recommendation is to adopt a hybrid model (Models 1, 2, and
3, see pages 6-14 for details of each model) with primary focus on: promotion of efficient practice within
genetic centers (technical assistance (TA) for telegenetics, TA for authorization of genetic testing and other
genetic services, TA for genetic counselor licensure and billing; other activities as identified through interaction
with genetics providers); and aggressive and targeted support of non-genetics providers through promotion of
their relationships with genetic centers, provision of point of care decision support, and development of other
tools to enhance the level of care that can be delivered in conjunction with but outside of the genetics center
itself. This hybrid model is suggested in view of health care transformation currently taking place.
Some state health departments have invested significant resources to support and expand a broad range of
genetics activities within their states. We recommend that the Maternal and Child Health Bureau (MCHB)
Genetic Services Branch (GSB) work with HRSA to prioritize genetics objectives within MCHB programs. At the
same time, future genetic services support centers should partner with state health departments to enhance
genetic services within their states, working to enhance existing support within state health departments for
genetic services.
In addition, the WG identified two overarching principles that should guide the development of future genetic
service resource centers:
1. Consumer engagement is a key element in the formation and functioning of future genetic service resource
centers. Beyond participation in WGs and various projects, the level of consumer engagement should be
within center top leadership.
2. A significant level of uniformity between genetic service resource centers is essential if meaningful national
outcome measures are to be identified. However, this required uniformity should not preclude innovation
at the regional level, within the overall goals of the GSB.
While the WG and AC acknowledged the importance of trying to ascertain costs within each model, it was a
difficult task, given the time constraints of this project; however, estimates have been provided where model
reviews gave a sense of cost. It should be noted that costs would be highly variable between models and
between regions given the variability of state and provider readiness for different models. Some excellent
models spend in excess of $ 155 million per year (CF Foundation) and have very robust data collection,
consumer support, and even centers of excellence. Some states have comprehensive public health genetics, in
particular Washington state (spends more than $500,000.00 per year primarily through state funds). Contained
within this report is an estimate of what pursuit of the different models might cost, but it must be emphasized
that these are best estimates based upon the information available to this WG and AC. Costs could range from
$5 million (current NCC/Regional Collaborative [RC] system) to in excess of $100 million.
1
Introduction
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Exploding knowledge of genetics and genomics holds the promise of prevention of genetic disease for many
Americans and improved treatment of existing genetic disorders for many more. In the face of this promise,
genetic providers and patients agree that access to genetic services is limited for many individuals (NCC Genetic
Provider Survey 2015; NGECN Consumer Survey 2015). For genetic services to actually be provided, several
processes must occur or be in place: recognition of need for genetic services by a provider and/or patient;
identification of a qualified genetics provider; referral; authorization of genetic services by a health insurance
plan; availability of a provider without excessive wait time; and navigation and care coordination for the patient
and/or family. Access problems can exist because of barriers anywhere in these processes and may be due to a
combination of factors: geographic maldistribution of providers; economic barriers related to lack of insurance
and underinsurance; social, cultural and language barriers; poor genetic literacy of non-genetics providers and
the public; and inadequate genetics workforce to name just a few.
The GSB, Maternal and Child Health Bureau, Health Resources and Services Administration (GSB, MCHB, HRSA),
asked the National Coordinating Center for the Regional Genetic Service Collaboratives (NCC, which also includes
the National Genetics Education and Consumer Network [NGECN]) to convene a working group to suggest
models for regional genetic services support centers that would address the problem of access to genetic
services in the United States. For this project, genetic services were defined as services provided, often by a
qualified clinical geneticist, to arrive at a diagnosis; provide information on the condition to the patient, family
and other providers; provide genetic counseling to the patient and family members; and ensure that
management and preventive care for the condition are provided or are in place through other providers. Some
of these genetic services are provided by genetic counselors, non-genetics physicians, and other non-physician
geneticists. Thus, the provision of genetic services is analogous to the provision of other types of specialty
medical services, such as cardiology services. All physicians and some nurses and physician assistants obtain
blood pressures and auscultate the heart, thus providing one level of cardiology services. However, sophisticated
diagnostics, interpretations, counseling and care plans are provided to complex patients by qualified
cardiologists. Thus, for the purposes of this report, we considered the spectrum of providers who are involved in
the care of individuals with genetic disorders. We also consider adults and children as comprising those
individuals with genetic disorders accessing genetic services.
The report that follows summarizes the findings and recommendations of the Regional Support Services Models
Workgroup (RSSM WG). It must be noted at the start that simple solutions to the complex problem of access to
genetic services did not emerge from this work. The genetics workforce problem alone exists because of a
combination of economic factors related to the practice of this subspecialty in the United States, the funding of
genetics training positions, and the requirements for academic genetics within medical schools and residency
training programs. Data from the NCC Provider Survey conducted in 2015 to public health, genetics
professionals, and other healthcare providers indicated that there were over 100 open positions for physician
geneticists in practices responding to the survey in late 2015. Sixty-two percent of geneticists (MD and PhD)
reported that their current wait time for a non-emergent appointment is greater than one month. In the face of
this shortage, only 119 of 275 fellowship training positions for physician geneticists were filled in 2013.
Added to the problem of insufficient recruits for physician geneticist training slots is the aging of the current
physician geneticist workforce. Among geneticists, 24.6% (N=52) said that they expect to retire within the next
five years (NCC Genetics Provider Survey, 2015). As with many medical specialties, non-physician clinicians
(genetic counselors) provide some of the services (such as counseling) for genetics patients in the United States.
Here, too, the strategies for increasing the number of genetic counselors are insufficient to meet current need.
In late 2015, survey data (NCC Genetics Provider Survey) indicated that there were over 500 open positions for
genetic counselors in institutions served by those responding to the survey. Thus attempts to address the
workforce problem at the clinic level will necessarily leave underlying systems problems untouched. The same
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NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
complexity underlies the geographic maldistribution of genetics providers, the social and cultural issues that
limit access, poor genetic literacy, and poor insurance coverage for genetic services.
The deliberations of the RSSM WG were informed by an awareness of the respective roles of state departments
of public health and university and private providers of genetic services in the United States. We are conscious of
the 3 core public health functions as defined by the Institute of Medicine: assessment, policy development and
assurance (Institute of Medicine: The Future of Public Health. Washington, DC, National Academy Press, 1988).
To accomplish these core functions, the Maternal and Child Health Bureau of HRSA defined the essential
components of a public health system: infrastructure building services, population based services, enabling
services, and direct health services (Maternal and Child Health Bureau, Title V Block Grant Program; guidance
and forms for the Title V application and annual report. HRSA, MCHB, Department of Health and Human
Services, April, 2000. OMB NO 0915-0172). Clearly, these public health functions overlap with the activities of
genetics providers in university and private settings. For example, public health departments lead in the
provision of newborn screening services for all babies born in the United States. Several chronic diseases,
including some forms of cancer, have genetic risk factors that may be amendable to population screening.
Genetic testing based on family history is an important emerging public health concern. Finally, the public health
function of assurance involves seeing that policies are implemented uniformly and equitably for all relevant
populations. Thus, collaborative interaction between public health and providers is important in an environment
of poor access to genetic services.
Given these factors, and in an attempt to suggest meaningful change, the RSSM WG chose to focus on two sets
of information. First, the RSSM WG reviewed the priority needs identified by genetics providers and consumers
in surveys and focus groups conducted in 2015. In addition, twenty states completed the Genetic Services
Assessment, developed by the Heartland RC and used as a tool to assess genetic systems and services (Source:
HRSA Evaluation Brief-Year 3 Evaluation Summary Data). Second, the RSSM WG reviewed existing national and
regional centers for genetic and other disorders in 2015. Based on what was learned from these reviews, eight
models of genetic services support centers were developed. These models do not include specific activities of
future genetic service resource centers but are intended to identify possible organizational structures and
overall goals of these centers. A hybrid of three of the models was recommended for HRSA’s consideration by
the RSSM WG. In addition, the WG identified two overarching principles that should guide the development of
future genetic service resource centers;
1.
Consumer engagement is a key element in the formation and functioning of future genetic service resource
centers, whatever model is ultimately adopted. Beyond participation in workgroups and various projects,
the level of consumer engagement should be within center top leadership.
2. A significant level of uniformity between genetic service resource centers is essential if meaningful national
outcome measures are to be identified. However, this required uniformity should not preclude innovation
at the regional level, within the overall goals of the GSB.
While the models we are suggesting cannot, by themselves, solve the workforce problem or the other barriers
that underlie limited access, we believe that they can begin to address the barriers directly. We believe that the
focus we are suggesting on providing specific goals, action plans, and outcome data will result in meaningful
improvements in access. As important, however, specific goals, action plans and outcome data will draw
attention to these barriers and encourage others to join the GSB in tackling the root causes of limited access to
genetic services in the United States.
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NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Background—IDENTIFICATION OF NEEDS
In November 2014, the seven RCs, NCC, and NGECN contemplated the question of what future genetic services
might look like given the shifting healthcare environment and technological developments within genetics
during the past 10 years. Importantly, these groups considered how to ensure that individuals not currently
accessing genetic services could begin to have access. Over a two day conversation the RCs, NCC, NGECN and
other national partners developed a schematic that “bucketed” needs between those of the general population
versus those of individuals and their families with, or at risk for, genetic conditions. (See appendix B for this
initial version).
Next, the NCC and NGECN held listening sessions from January through July 2015 with their stakeholders with a
particular emphasis on stakeholders not currently engaged in the NCC/RC system. Held as both in-person and
telephonic conversations, the sessions offered insight into how genetics professionals, consumers, public health,
and primary care providers perceive the current gaps in services. Ways to close these gaps were explored. The
listening sessions, with more than 250 participants, formed the basis for the national needs assessments
conducted from October to December 2015 by the NCC and NGECN with consumers, genetics professionals,
public health, and primary care providers.
IDENTIFICATION OF PRIORITIES
With completed national needs assessment data available, the RSSM WG developed a list of priorities based
upon the results of the needs assessments (Table 1), and these priorities have informed the model
recommendations contained in this report. The priorities are listed in alphabetical order and are considered
equivalent to each other in terms of importance.
Table 1. Identified Priorities based on National Needs Assessments
Categories
Priority
1.
Data Collection
• Baseline data to assess long-term outcomes of access projects
• Data for Evaluation purposes
• Facilitate the acquisition of new knowledge
• Utilize appropriate existing data sources
Education and Training on Genetics for Non-genetic Providers
• Providing access to appropriate genetic resources
• Facilitate ongoing relationships between non-genetics and genetics providers
• Genetic Consults for non-genetic providers (more like ECHO and less-like a direct service)
• Public education
• Targeted education at points of care, E.G. FQHCs and other large providers that don’t focus on genetics.
Efficient Practice
• Enhance effectiveness of workforce through telegenetics and other service delivery models
• Promote and facilitate entry into the field
Family Engagement Finding and providing ongoing care to underserved families and groups (broadly defined)
• Underserved may include initial services
• Detect health disparities
Formal relationships with state public health, healthcare institutions, and university centers
• Contract and/or partnerships agreements for specific services, e.g. provide telemedicine support in your
institution, report specified data, provide referrals to specialists.
• Formalize relationships between institutions, health departments.
• Facilitate partnerships to bring resources to the table.
• Provide technical assistance to states with no genetics beyond NBS to internalize the importance of genetics
in public health at a state level, e.g. cancer
• Work actively with Medicaid
• Demonstrate a minimum set of core partnerships (e.g. Medicaid, Department of Health, University Centers, Title V)
Practice Support
• Authorization and reimbursement (including billing and insurance)
• Contractual services
• Medical Home model
• National level expertise
2.
3.
4.
5.
6.
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NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
These priorities address three of the four essential components of a public health system. Priorities 1 and 2 are
infrastructure building, Priority 6 is enabling services, Priorities 3 and 5 are infrastructure and direct services, and
Priority 4 is population based and infrastructure building services.
Table 2. MCH Pyramid—Identified Priorities
MCH Pyramid source:
http://www.amchp.org/AboutTitleV/Documents/MCH_Pyramid_Purple.pdf
accessed 1/27/16
REVIEW OF REGIONAL CENTERS SERVING INDIVIDUALS WITH VARIOUS GENETIC DISORDERS
In parallel processes, the NCC and NGECN conducted literature reviews (see appendix C) in support of the
regional support service model work.
In addition, the RSSM WG reviewed a comprehensive list of existing regional centers that currently serve
individuals with various genetic disorders (see appendix D for a list of centers, the review template, and the
review findings). From these reviews, the WG developed a summary of findings and themes (see appendix E).
Analysis of the findings and themes, in conjunction with the priorities developed from the needs assessment,
provided ideas for the development of eight models for genetic services support centers.
Center Models
The RSSM WG and AC reviewed and refined multiple models to present to HRSA a menu of potential
organizational structures to consider in the redesign of the framework for genetic services. The following is a list
of the eight models with definitions of their potential components. Because of operational and reporting
requirements, all models include an administrative function (e.g. personnel management, contracting) and a
data collection function for evaluation purposes. These functions are not specifically described in Table 3. Note
that because a coordinating body and regional entities were considered by the RSSM WG and AC to be central to
the success of meeting the diverse needs for genetic services in the United States, seven models incorporate this
structure. Should HRSA choose to retain a regional model, the current NCC/RC structure may be modified or
replaced by a new structure designed to address the specific requirements of the new genetic services support
centers.
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NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Model 1- Regional Genetic Service Resource Network: a regional infrastructure with a central coordinating
body. Regions would work with states, providers, and consumers to develop a team of stakeholders and
implement projects that improve access to genetic service. Goals and priorities for these projects would be
congruent with guidance provided by the GSB and HRSA. Specific project deliverables would be consistent with
regional needs. This model could utilize elements of the below models as project
deliverables.
Model 2- Regional Clinical Support Centers: Using a regional infrastructure, the focus would be on clinical
providers, public health genetics or both with activities limited to supporting clinical services through technical
assistance (e.g. telemedicine), clinical support (education), care coordination, evaluation, and workforce
capacity.
Model 3- Regional Genetics Education and Technical Assistance Centers: a regional infrastructure would focus
on both clinical and public health providers. Primary focus is on development of materials and/or education
similar to the ECHO model (see appendix C Project ECHO model review), and public and non-genetics provider
education timed to the right time and place.
Model 4- Regional Patient Engagement Centers: regionalized centers would pursue activities focused on
consumers. Primary partners may be Genetic Alliance, public health departments, or both. Activities would be
limited to administration, patient engagement including care coordination, and education.
Model 5- Public Health Model: This model could be administered by a central coordinating body, only regional
centers, or both. This would address public health concerns (e.g. policy development), and funding would
support a state genetics coordinator in each state. The coordinator would work with individuals in genetic and
chronic disease offices through Title V. The main role would be to build a tight integration with public health
workforce that would demonstrate and eventually address need.
Model 6- Quality Improvement Model: a regional infrastructure with a centralized coordinating body would
engage in activities focused on a plan to develop, implement, and evaluate formal quality improvement
processes to improve access. This could be a single project across the country. A modification could be a
national QI focused project, with a proportion of funds at the RC level supporting RC-specific projects.
Model 7- Regional Clinical Support Network: regions provide clinical services via local or state clinics receiving
funds from regional centers to meet specific and unique needs as identified by the local/state centers. A
national coordinating body would coordinate the regions, and specific goals and objectives would be established
for each local/state clinic at the start of each funding period.
Model 8- Genetic Service Data Centers: This model could utilize a regional infrastructure, where the central
coordinating body would work with HRSA to determine the data of interest, possible national data sources.
Regional centers would work with clinical entities, consumers, and states to collect data related to access to
genetic services, focusing on where patients are, their demographic and clinical characteristics, when and where
they receive services, and gaps in service.
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Table 3. Model Pros/Cons/Priorities Table
Model
Model 1regional
genetic
service
resource
network
Description
Pros
• Central
coordinating
body and
regional
centers.
• Team approach
• Regions work
with states,
providers and
consumers to
develop a team
composed of a
wide array of
stakeholders
•
•
•
•
•
•
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Cons
• Current RCs still not
widely known; use of
Familiar structure for
this structure would
current HRSA regional
require aggressive
collaboratives and other
promotion of the
centers; would permit
system
in order to
HRSA to build on what has
improve access
been learned, using existing
or similar infrastructure
• Core outcomes could be
defined, but if each
Looks at a wide range of
region uses own
issues/priorities
methodology, based on
Region could focus on what
regional needs,
is lacking most for the
identifying common
region within the context of
elements to measure
the goals of HRSA
outcomes could be
Training could be
difficult. Some
administered readily;
consistency with other
fellowships could be
HRSA programs also
supported as well; genetic
desirable.
counselor training could
• Lack of consistency in
also be supported
outcomes could affect
Center could be used to
funding in the long run
facilitate relationships
• Demonstrating national
between states, genetics
impact difficult if
providers, non-genetics
regional activities highly
providers, consumers,
variable
other existing programs
• Work needs to be done
Demonstrating national
within the healthcare
impact is achievable if
delivery system to
common goals/objectives
impact access
Time to
Timeline/
Implementation
Priorities
(Access Projects)/
Time
Addressed
Initial Data
Requirements
collection
Priority 1
May
address
Priorities
2,3, 4,
and/or 5,
depending
on HRSA
goals and
regional
needs
Priority 6
for
evaluation
purposes
1 yr to develop
infrastructure
if current
infrastructure
not used
1-4 years—
dependent
upon whether
a regional
system focuses
on data
collection; care
delivery;
patient
engagement
Up to 1 year:
infrastructure
Access projects:
depends on what
activities/priorities
are pursued but
some projects can
be implemented in
year 1
Outcomes
Dependent on
goals and
priorities as
determined by
GSB and HRSA.
Outcomes that
could be
achieved include
improved
workforce
efficiency,
increased
services to rural
areas via
telemedicine,
access data from
clinical partners,
improved genetic
literacy of
providers and
public,
distribution of
materials to nonEnglish speaking
consumers,
documented
services provided
to individuals not
previously
receiving care,
increased
coordination with
state agencies
including Title V,
Medicaid, chronic
disease programs
Promotion
of Efficient
Verdict
use of
Resources
May take
advantage
of existing
infrastruct
ure
Retain
Permits
quick
pivot to
new HRSA
priorities if
current
infrastruct
ure used
and
already
included
necessary
partners
7
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Model
Description
Model 2regional
clinical
support
centers
• Central
coordinating
body and
regional
centers. Focus
is on clinical
providers,
public health
genetics or
both. Activities
limited to
administration,
technical
assistance,
clinical
support, care
coordination,
evaluation, and
workforce
capacity.
Pros
Cons
• May address workforce
capacity
• May not be needed in
all regions
• Promote efficiency
• Limits services
provided to other
specialists and primary
care providers
• Most ability to get data for
individual sites- clinical site
data
• For some payers, a national
system may be ok
• Other product
development possible
• Education component
for non-geneticists is
not covered
• Patient engagement
component is left out
• Plans vary so may not
be able to provide
national data on some
access issues
Time to
Timeline/
Implementation
Priorities
(Access Projects)/
Time
Addressed
Initial Data
Requirements
collection
Priorities
1, 3, 4, 5,
and 6
1 year for
infrastructure
development,
assuming
current
regional
structure and
coordinating
center not
involved
2-3 years
Outcomes
Improved
workforce
efficiency
Most ability to
get data for
individual sitesclinical site data
Promotion
of Efficient
Verdict
use of
Resources
Takes
advantage
of existing
clinical
centers,
supports
their need
for more
efficient
practice
Retain
but not
as standalone
national
model
Years 1-2 –
identification
of key
activities/priori
ties
Years 1-2action plan and
evaluation
developed
8
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Model
Description
Model 3- • Central
regional
coordinating
body and
genetics
regional
education
centers. Serves
and
both clinical
technical
providers and
assistance
public health
centers
entities.
Activities
limited to
administration,
education,
technical
assistance,
evaluation.
• Focus is
educationdevelopment
of materials,
ECHO, just-intime services,
public
education at
right place
right time
Pros
• Easier to do than some
other suggested models
• Much of work could be
done using on-line
methodology
• Would maximize impact of
limited dollars
• Potential for broad reach
• Broad expertise exists in
the field
• Simpler system:
billing/reimbursement is
difficult but straight
education is easier
• Providers need just-in-time
materials; webinars could
be used
Cons
• Focusing on providers
and public education
means we could miss
consumers; need to
include consumers in
education
• Difficult to measure
behavior change
following an
educational program;
difficult to show
clinical impact
(improved access)
• Disease-specific
educational materials
are more beneficial
but can be difficult to
develop
• Need capacity to
develop and distribute
just-in-time materials
at sites where needed
Time to
Timeline/
Implementation
Priorities
(Access Projects)/
Time
Addressed
Initial Data
Requirements
collection
Priorities
1, 2, 5,
and 6
1 year for
infrastructure
development,
assuming
current
regional
structure and
coordinating
center not
involved
1 year –
identification
of key
activities/priori
ties
1 year-action
plan and
evaluation
developed
2-3 years
Outcomes
Broad reach to
providers and
public health
Improved genetic
literacy and
knowledge as
demonstrated by
pre and post
testing and
surveys
Promotion
of Efficient
Verdict
use of
Resources
Maximize
s impact
of limited
dollars
Potential
for broad
reach
Retain
but not
as standalone
national
model
May show
increased
referrals to
genetic centers
(exacerbating
workforce
problem)
• Would have to be
driven by other
national organizations
(AAP) to get into
training programs
9
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Model
Description
Model 4regional
patient
engagem
ent
centers
• Central
coordinating
body with
regional
centers.
Primary
partners may
be Genetic
Alliance, public
health
departments or
both. Activities
limited to
administration,
patient
engagement
including care
coordination,
education with
focus on
consumer
issues,
evaluation.
Pros
• Addresses some high need
areas based on feedback
from the survey: people
aren’t getting information
they want/need (low
literacy, other languages)
• Potential outcome
measures are close to HRSA
goals (getting patients to
services)
Cons
• Difficult to address in
stand-alone centers
• Outcome measures
may be difficult
• Information-seeking
individuals will be
helped but may not
reach entire
population
Time to
Timeline/
Implementation
Priorities
(Access Projects)/
Time
Addressed
Initial Data
Requirements
collection
May
address
Priorities
1, 2, 3,
and 6
1 year for
infrastructure
development,
assuming
current
regional
structure and
coordinating
center not
involved
• If workforce capacity
issue isn’t addressed,
an influx of people
could be entered into
the system without
appropriate workforce
1-2 years –
identification
of key
activities/priori
ties
• Not addressing
clinical/delivery
systems; therefore
doesn’t address
underlying issues
1-2 yearsaction plan and
evaluation
developed
2-3 years
Outcomes
Addresses some
high need areas
based on
feedback from
the survey:
people aren’t
getting
information they
want/need (low
literacy, other
languages)
Promotion
of Efficient
Verdict
use of
Resources
Activities
may
overlap
with
Genetic
Alliance,
NEGCN,
other
national
and state
projects
Retain
but not
as standalone
national
model
Potential
outcome
measures include
access to services
• Focus on the
consumer
10
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Model
Description
Model 5public
health
model
• Could be only a
central
coordinating
body, only
regional centers,
or both. Primary
partners are
state health
departments.
Funding
supports a state
genetics
coordinator in
each state.
• Addresses
public health
concerns i.e.
policy
development
• Focus is state
public health
partnerships;
coordinator
would work
with individuals
in genetic
disease offices,
title V
• The role would
be to build a
tight integration
with public
health
workforce that
would
demonstrate
and eventually
address need
Pros
• Enhanced data collection
by state genetics
coordinators
• Increased access to
individuals not getting
services through
coordination with Title V,
Medicaid, and chronic
disease programs
• Many issues preventing
access are at the state level
• In a mixed model, some
regions could support
programs to provide
information to state public
health as needed by
individual states
• Easy access to other large
public health programs
(Medicaid, Title V)
• Helps build relationships
within state health
departments and may
provide access to other
state budgets for specific
programs (if genetics
program budget isn’t
available); once matured it
is a return on investment
• Regional centers would
have no control over states
but NCC/RC system has
built state NBS capacity,
suggesting this is a feasible
model
Cons
•Some states may be
unwilling or unable to
accept small amounts of
money available through
these grants
Time to
Timeline/
Implementation
Priorities
(Access Projects)/
Time
Addressed
Initial Data
Requirements
collection
Priorities
1 and 6
May
address
Priority 2
•Some states may not
and other
wish to accommodate
priorities
this position within their
dependin
state structures
g on
•There needs to be a state priorities
champion for genetics
of state
beyond the coordinator health
•Success is dependent on departme
nts, needs
genetics coordinator
being high enough in the identified,
HRSA
state structure to be
priorities
effective
•May have an issue filling
50 slots for coordinator
with a trained genetic
counselor (workforce
issue.) Salary may not be
as competitive as
industry. May need to
recruit professionals with
other backgrounds.
2 years to
establish an
infrastructure
and build
partnerships/r
elationships to
put a genetics
coordinator in
a state public
health office
2+ years—
embed state
genetics
coordinator in
state public
health and
develop
activities/priori
ties for that
work
Initial data
collection: 2+
years
Implementation of
access projects: 34 years
Outcomes
Enhanced data
collection by
state genetics
coordinators
funded by these
grants
Enhanced
coordination with
Title V, Medicaid,
chronic disease
programs, where
some access
problems exist
Promotion
of Efficient
Verdict
use of
Resources
Would
take
advantage
of state
resources
in those
states
receptive
to this
model
Retain
but not
as a
standalone
model
States vary
greatly in
current
commitm
ent to
genetic
services;
this would
need to
be taken
into
account
when
funding
decisions
made
•Coordinator requires
time to develop
relationships, work with
other units in the
department to
create/fund programs to
address clinical,
educational needs
• Structure within states can
be a sustainable model
11
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Model
Model 6quality
improve
ment
model
Description
Central
coordinating
body and
regional centers.
Data collection
and grant
activities focused
on plan to
develop,
implement and
evaluate formal
quality
improvement
processes to
improve access.
Pros
• Validated method,
evaluation built in,
outcomes reportable.
• Could put almost any
activity around access into
a pdsa. (pre-data
collection, QI effort would
address a specific
problem, as opposed to all
problems.)
• Development of metrics in
genetics would be useful.
• Single national unified
project would permit
national data collection
and outcomes assessment
• Could permit coordination
with MOC activities for
providers
• Many access problems
could be addressed using
QI methodology
Cons
Time to
Timeline/
Implementation
Priorities
(Access Projects)/
Time
Addressed
Initial Data
Requirements
collection
• Higher cost
• Would require a
planning phase, lag
likely in getting to data
collection (identify
methodology first,
then start data
collection)
• Genetics professionals
unfamiliar with QI and
Implementation
science would require
additional education.
• Measurable outcomes
from QI might not
immediately promote
access.
• A single national QI
focus may not be
applicable to all
regions. However,
selection of regional QI
projects would limit
national data
collection and
outcomes assessment
• Systemic issues related
to genetic access seem
too big for some QI
approaches
• Could end up with a
number of pilot
project that might
differ. Local data easy
to get, but national
data difficult to collect.
Priorities
1 and 6
Priorities
would
depend
on what
the QI
program
would
address.
1 year for
infrastructure
development,
assuming
current
regional
structure and
coordinating
center not
involved,
1 year—
planning
1-2 years—
recruitment
and
intervention
4 years (per PDSA
cycle)*
*Because standard
quality measures
do not exist for
many quality
improvement
goals, additional
time would be
required in the
first cycle to
establish these
goals and identify
methodology.
Outcomes
Promotion
of Efficient
Verdict
use of
Resources
Demonstration of Would
require
effectiveness of
developme
specific QI
initiatives related nt and
to access, assumingimplementa
clinical genetic
tion of QI
centers willing to methodolog
y related to
participate
genetic
May exacerbate access,
workforce
implementa
problem
tion
nationally
Used in
conjunction
with
another
model.
Should be a
component
of
whichever
models are
recommend
ed.
1 year—
evaluation
12
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Model
Description
Pros
Cons
Model 7regional
clinical
support
network
• Focused on
clinical service;
local/state
clinics apply for
funds from
regional
centers to
meet their
specific and
unique needs
• Trackable outcomes as long
as effectively
communicated between
center and clinics
• Regional centers focus
on contracting and
evaluating (less than
12 months to contract,
complete the work,
evaluate)
• Regions
coordinated by
a central
coordinating
body
• HRSA could
define specific
goals for
system
• Could enhance funding
already in place if state
does have contract funding
• States could coordinate
their support of genetic
services with resource
centers, so that funds could
be equitably distributed
• Takes advantage of
mechanisms already in
place in some states to
contract out services
• A lot of contracts with
very little money
depending on the
state; could enhance
the maldistribution of
dollars
• Because clinical centers
must apply for funds to
meet their specific
needs, funds may not
be distributed to the
communities efficiently
or equitably
Time to
Timeline/
Implementation
Priorities
(Access Projects)/
Time
Addressed
Initial Data
Requirements
collection
Depends
on
specific
needs
identified
by funded
clinical
centers
Priority 6
1 yr,
development
of
infrastructure
if current
infrastructure
not used
1-2 years—
clinical center
identification,
recruitment,
contracting
2 years
Outcomes
Trackable
outcomes as long
as effectively
communicated
between center
and clinics
Individuals into
clinical genetic
services that
were not
previously
receiving care.
Promotion
of Efficient
Verdict
use of
Resources
Resources
could be
distributed
to those
centers
needing
them
Eliminate
Some
underserved
populations
may not be
reached
13
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Model
Description
Pros
Model 8- • Central
• Gets national, uniform
Genetic
coordinating body
baseline data
and regions.
Service
• Allows measurement of
Central body
Data
impact of future programs
works with HRSA
Centers
• Data for policy
to determine data
development
of interest, who
has national data • National data set would be
useful in informing the
sources. Regional
greater medical community
centers work with
clinical entities,
• Could address health equity
consumers, states
issues- drill down to
to collect data.
different conditions,
Goal is to collect
populations to identify
data related to
regional and local needs
access to genetic • Reinforce formal
services
relationships with state
• Different data
programs, can create data
from NBSTRN and
together so may not need
CDC surveillance,
to give money to state
to include finding • Works well with meaningful
out where
use standards
patients are, their • Delays action steps until
demographic and
baseline data collected
clinical
characteristic, and
when they get
service i.e.,
Regions 4 and 6
mapping projects
• Carefully selected
information
could have one
central data
center to which
all regional
centers report
data
Cons
Time to
Timeline/
Implementation
Priorities
(Access Projects)/
Time
Addressed
Initial Data
Requirements
collection
• Does not improve access Priorities
1 and 6
initially – no “action”
steps until data are
collected and analyzed to
identify needed actions
• Long-term results will be
years from initiation of
grant cycle; therefore
more difficult to get buyin from partners who
would need to provide
data
• Would need to build in
time to choose core data
set (what to collect and
from whom). Also need
time to define and create
formal relationships with
clinical programs and
states.
1-3 years for
infrastructure/
database
development
1 yearrecruitment
1-3 years for
infrastructure
development,
depending on
database structure
selected
Data collection
could begin in
years 2-3
Multiple years of
data collection and
analysis required
(5+ years for full
project)
Outcomes
Gets national,
uniform baseline
data
Allows
measurement of
impact of future
programs
Data for policy
development
Promotion
of Efficient
Verdict
use of
Resources
There may Fund as a
be other
separate
funding
entity
mechanism
s within
HRSA or
CDC better
suited to
this activity.
National data set
would be useful
in informing the
greater medical
community
• Would have to pay for
data entry into a
regional/national
repository
• This would be an allconsuming endeavor,
and would obviate all
other activities.
• States often don’t have
data on non-nbs
conditions; would
require data from clinical
sites and other sources
14
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
RECOMMENDATIONS
Careful review of priorities for future genetic services support centers and analysis of existing center models
(see Tables 1 and 3) resulted in the identification of 8 genetics resource center models with their associated
pros and cons. In the process of coming to a recommendation for a model or models that would address the
priorities, it was noted that an inadequate genetics workforce is an overarching issue. However, increasing
the number of genetics providers was not within the capacity of GSB or genetic services support centers in
the near or intermediate term. The RSSM WG and AC also noted that the Institute of Medicine has
emphasized the need to improve efficiency in the provision of clinical services (Crossing the Quality Chasm,
2001). Improvements in efficiency can help to compensate for the impact of workforce shortages of genetic
providers and counselors and reduce the impact of shortages on access and quality of care. Improved
strategies to authorize genetic testing, use of telemedicine, non-genetics provider education about genetics,
and improved identification of available services can help limited numbers of providers care for more
patients. Therefore, it was the consensus of the WG and advisory committee that efforts to enhance
efficient practice should be addressed as a first priority.
RECOMMENDATION 1: Recommended Genetic Services Support Center Model
To address the problem of efficient practice, we recommend the adoption of a hybrid model (models 1, 2
and 3) with primary focus on: promotion of efficient practice within genetic centers (technical assistance
(TA) for telegenetics, TA for authorization of genetic testing and other genetic services, TA for genetic
counselor licensure and billing; other activities as identified through interaction with genetics providers); and
aggressive and targeted support of non-genetics providers through promotion of their relationships with
genetic centers, provision of point of care decision support, and development of other tools to enhance the
level of care that can be delivered in conjunction with but outside of the genetics center itself. This model is
suggested in view of health care transformation currently taking place.
Recognizing the key role of genetics sections within some state departments of health, we recommend that
GSB work with HRSA to prioritize genetics objectives within MCHB programs. At the same time, future genetics
services support centers should partner with state health departments to enhance genetic services within their
states, through identification and engagement of state health department leadership/commissioners and then
in working together to enhance existing support within state health departments for genetic services.
Identification of underserved populations within states and regions should be a primary focus of the entire
genetic services support centers, particularly in their interactions with state health departments.
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NCC Regional Genetic Service Center Models
Recommendation Brief
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Table 4. Recommended Genetic Services Support Center Model
Model
Hybrid
Model –
regional
genetic
service
resource
network
that
provides TA,
genetics
education,
and clinical
support.
Description
• Central
coordinating
body and
regional
centers.
• Regions work
with states,
providers and
consumers to
develop a team
composed of a
wide array of
stakeholders
• Regional
Centers would
focus on
promotion of
efficient
practice within
genetic centers
through
provision of
TA, and
support of nongenetics
providers.
Meaningful
engagement of
all state health
department
within a
regional entity.
• Identification of
underserved
populations.
Pros
Cons
• Regions would
focus on what is
lacking most for
the region within
the context of the
goals of HRSA as
identified in this
model (improved
practice efficiency
through technical
assistance; nongenetics provider
education using
just-in-time pointof care tools)
• Core outcomes
could be
defined, but if
each region
uses own
methodology,
based on
regional
preferences,
collection of
comparable
data may not
be possible.
Some
consistency
with other
HRSA programs
also desirable.
• Center would be
used to facilitate
relationships
between states,
• Lack of
genetics
consistency in
outcomes
providers, noncould affect
genetics
funding in the
providers,
long run
consumers, other
existing programs; • Demonstrating
improved
national impact
relationship
difficult if
would provide
regional
information on
activities highly
tailoring specific
variable
programs to the
• Work needs to
region
be done within
• Demonstrating
the healthcare
national impact is
delivery system
achievable since
to impact
common
access, requiring
goals/objectives
development of
are required
robust
relationships
• Should improve
with providers
access to genetics
services including
underserved
populations.
Priorities
Addressed
Priority
1-6
Timeline/
Time Requirements
1 yr to develop
infrastructure if
current infrastructure
not used
1-4 years—dependent
upon which
goals/activities are
undertaken first: data
collection (3-4 years);
care delivery (1-2
years); patient
engagement (1-2
years)
Time to
Implementation
(Access Projects)/
Initial Data
collection
Infrastructure 1
year if previous
infrastructure not
used.
Initial data
collection 1-4 years
depending on
which projects
undertaken first
(see timeline)
;
Outcome
s
Improved
workforc
e
efficiency
Increased
services
to
underser
ved areas
via
telemedi
cine
Access
data
from
clinical
sites
Promotion of
Efficient use
of Resources
May take
advantage
of existing
infrastructu
re
Permits
quick pivot
to new
HRSA
priorities if
current
infrastructu
re used and
already
included
necessary
partners
Increased
participat
ion of
PCPs in
care of
genetics
patients
Improved
genetic
literacy
of nongenetics
providers
16
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Recommendation 2: Regionalized Structure for Future Programs
Based on the substantial investment that has been made in the regional genetics and newborn screening
infrastructure, the experience GSB and HRSA have obtained in the development and oversight of regional
systems, and because of the successes of the NCC/RC system, the RSSM WG and AC recommend that a
regional approach be retained in the development of future genetic services support centers.
The RSSM WG and AC agreed that much has been accomplished in the eleven year history of the NCC/RC
system. While accomplishments have varied between regions and states, through substantial investment
and support of the GSB, MCHB and HRSA, the seven RCs and their national coordinating center have
developed meaningful relationships with all state departments of health and newborn screening programs;
have interfaced with genetics, subspecialty and primary care providers throughout the United States and
territories; and have developed robust consumer networks to inform and assist the work of the NCC and
RCs. Numerous pilot projects have demonstrated useful methods for consumer engagement, emergency
preparedness, and consumer and provider education. Wide scale adoption of some of these pilot projects
led to the development of the Longitudinal Pediatric Data Resource (LPDR), the national and international
adoption of Region 4 Stork Laboratory Performance Database (R4S) system, the expansion of telemedicine
into telegenetics in several regions, and the growth of patient navigator programs to serve genetics patients.
The regional system has been responsive to local and state administrative, cultural and geographic factors,
allowing adoption where and when appropriate. The relationships developed by the RCs have allowed them
to influence state processes even when the RCs have no formal authority. For example, the NCC and RCs
played a significant role, along with state departments of health and national professional organizations, in
widespread adoption of the recommended uniform panel for newborn screening (RUSP). The NCC and RCs
also contributed to major state efforts to improve the timeliness of newborn screening.
The current NCC/RC regional system may not meet the needs of HRSA and GSB as they develop future
genetic services support systems. However, the strengths of a regional system were clear to the RSSM WG
and AC, and utilization of a similar structure was recommended. One mechanism for consideration is
development of a funding opportunity announcement that solicits applications around a set of
competencies, perhaps those identified through the HRSA GSB Logic Model process in 2016, where each
regional entity would take on a specific area of expertise and be funded to implement activities in that area
of expertise. Examples of this approach include: the CDC-funded National Public Health Training Program
and the Office of Population Affairs. This would promote regional entities to be resources to other regional
entities, and reduce duplication of efforts/projects.
Recommendation 3: Central Coordination Provides a Key Function
The RSSM WG and AC recommend that a central coordinating body of future genetic services support
centers, under the direction of GSB, HRSA, be given sufficient authority and resources to ensure that
the support centers adopt national goals and implement them to permit national data collection
demonstrating national outcomes.
The RSSM WG and AC noted that the organization of the RCs as independent grants has resulted in
substantial variability in activities and data collection. While the NCC has had some authority to coordinate
the activities of the RCs, RCs were empowered to work independently of one another, making identification
of national priorities, collection of national data and demonstration of national impact difficult. A future
coordinating center, under the direction of the GSB, should have authority and resources to address this
problem. However, dissemination of funds should remain the responsibility of the GSB.
17
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
Recommendation 4: Function of Genetic Services Support Centers within the Healthcare Delivery System
and the Role of Public Health
The RSSM WG and AC noted that if future genetic services support centers are to have meaningful impact
on access to genetic services, they must play their part within the current healthcare delivery and public
health systems. Providers and consumers agree that substantial day-to-day challenges prevent
identification of patients needing services, referral, authorization, and timely provision of services. These
problems occur at provider, consumer, insurance company and clinic levels. The RSSM WG and AC
recommend that future support centers function in this context.
The RSSM WG and AC recommend that the GSB, MCHB and HRSA review their current relationships and
funding mechanisms for state MCHB programs, with the goal of including genetic services as a priority area
for future MCHB grants. In the interim, the relationship of future genetics support centers to state
departments of public health should be region-specific, taking into account the current commitment of
individual states to genetic services. Where such commitment is limited, activities of future support centers
should emphasize information exchange, development of partnerships, and efforts at policy development
for genetic disorders of public health impact. To these ends, regions could facilitate the development of a
mentoring system for states of different size and capacity.
State departments of public health vary greatly in their focus on genetic services. A few promote provider
and public education vigorously and support genetics providers in their efforts to serve underserved
populations. Many, however, do not have formal genetics sections or genetics coordinators and take a
limited role, outside of newborn screening, in assuring access to genetic services. If future support centers
are to serve a public health function (assessment, policy development and assurance through infrastructure
building, population based services, enabling services and direct services), the current variability of state
commitment to genetic services will need to be considered and addressed. Current robust state genetics
programs (e.g. Washington, Hawaii) demonstrate the key role that states can play in ensuring access,
particularly to underserved populations.
The WG recognizes the importance of the state legislatures and legislation to ensure genetics’ place within
public health. However, state level legislation changes or modifications are not recommended as a primary
approach for developing this partnership and emphasis. There is a role for a state legislature in giving state
genetics coordinators authority, funds, and responsibility to increase genetic services within states. In
addition, the national coordinating center and all regional centers could organize genetics education days for
each state legislature, with all regional centers and the national center sharing and discussing the same
genetics education topics and message. This is recommended as one approach for increasing the value of
genetics within public health.
The Following Four Recommendations Address Remaining Critical Gaps
Recommendation 5: Provision of non-genetics provider education
The RSSM WG and AC recommend that GSB engage in a dialogue with professional organizations including
AAP, AAFP, and ACOG to develop educational programs with meaningful incentives to promote genetics
education among their members.
Review of needs assessment focus group and survey findings demonstrated a significant gap in genetics
education for non-genetics providers. The RSSM WG and AC agreed that this gap must be addressed.
However, efforts by the RCs and the NCC to engage primary care providers and non-genetics specialty
providers in meaningful genetics educational programs have had limited success.
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NCC Regional Genetic Service Center Models
Recommendation Brief
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Recommendation 6: Data Collection
The RSSM WG and AC recommend that GSB engage in a dialogue with existing HRSA data centers to
develop a robust system of clinical genetic services data collection to support the activities of future genetic
services support centers.
Collection of meaningful genetic services data is essential to identify local and regional needs and to assess
outcomes of programs that are implemented to improve access to genetic services. The NCC/RC system has
implemented an evaluation system that promotes data collection, but funding levels have constrained the
depth and breadth of genetic services data collection. Additionally, mixed goals and objectives, even among
similar projects, has proven difficult in developing a national evaluation system. Establishing methodology
and clearly defined outcomes, goals, objectives, and uniform target populations would facilitate a more
robust data collection program.
Recommendation 7: Address lack of mental health services for individuals and families affected by or at
risk for genetic disorders
Mental health issues often present barriers to access to services. Mental health problems are often the most
distressing associated symptoms of genetic disorders (either due to the disorder itself or to the impact of
living with a genetic condition). Obtaining even an evaluation for psychological effects of a genetic condition
is laborious or impossible. Research into mental health issues associated with genetic conditions is also
lacking. The RSSM WG and AC recommend that HRSA work with SAMHSA and other mental health service
leaders to review and address this issue.
Recommendation 8: Support for increasing the number of physician geneticists, genetic counselors and
other highly- specialized providers for treatment of genetic disorders: (e.g. dietitians for metabolic
disorders identified by newborn screening).
The RSSM WG and AC recommend that GSB engage in a dialogue with the existing HRSA Office of Workforce
Development to develop a plan to increase the number of physician geneticists, genetic counselors, and
highly specialized non-physician providers (e.g. metabolic dietitians) caring for individuals with genetic
disorders. An example is the role this office played in developing the geriatrics workforce. A similar model
could be employed under the leadership of HRSA GSB.
With improved identification of specific genetic disorders through NBS and other genetic testing, and with
the personalized medicine initiative, highly specialized providers are necessary for complete treatment.
There are insufficient providers today, and this gap will become more pronounced as testing becomes more
and more available.
A cautionary note here: the workforce dilemmas within genetics are not uniform. For medical geneticists,
there are insufficient trainees to fill fellowship positions and open positions post-fellowship. For genetic
counselors, there are not enough training slots to fill the demand for training and the labor demand.
Dietitians may be unaware that there is a role for them within metabolic genetics. One solution will not be
a panacea, and an in-depth review of each specialty within genetics will have to address each uniquely.
Conclusion
This project provided an opportunity to identify needs of healthcare providers and consumers and to
consider how future regional genetic services could address these needs, how they could be structured, and
what populations could benefit. Through careful consideration of many existing models, the RSSM WG and
AC have identified and reviewed eight models for regional genetic services. Pros and cons of these models,
as well as costs and resource utilization were identified but may not be comprehensive. See Appendix F for
a list of proposed process and outcome measures for each model included in this brief. The opportunity to
review regional models (both within the US and the UK) provided a landscape upon which to consider
19
NCC Regional Genetic Service Center Models
Recommendation Brief
(3/31/16)
where genetic services might head and what areas might be emphasized to improve access to services in
the United States. As genetics technology continues to advance and service models for delivery of care are
transformed, there is continuing need to support the goal of equal access to services for all Americans. We
believe that the development of regional genetic services support centers can be a positive force to meet
this goal.
20
Appendix A: Regional Support Service Model Workgroup and Advisory Committee Membership
Regional Support Service Model Workgroup Members
Debra Lochner Doyle, MS, LCGC, Washington State Department of Health
Mat Edick, PhD, Michigan Public Health Institute
Celia Kaye, MD, PhD (Chair)
Jan Lowery, PhD, MPH, Colorado School of Public Health
Cynthia Powell, MD, University of North Carolina at Chapel Hill
Chris Prater, MD, Highlandtown Healthy Living Center
Matthew R.G. Taylor, MD, PhD, University of Colorado Health Sciences
Alan Zuckerman, MD, Georgetown University
Regional Representatives on Workgroup
Monica McClain, PhD, MS, NEGC Principal Investigator and Co-Director
Michele Caggana, ScD, FACMG, NYMAC Project Director
Hans Andersson, MD, FACMG, SERC Co-Project Director
Lisa Gorman, PhD, Region 4 Midwest Program Director
Lori Williamson Dean, MS, CGC, LCG, Heartland Project Manager
Kathryn Hassell, MD, MSGRC Project Director
Sylvia Mann, MS, CGC, WSGSC Project Director
Advisory Committee
Jill M Abramson, MD, MPH, FAAP, California Department of Health Care Services
Janice Bach, MS, CGC, Region 4 Co-Project Director
Debbie Badawi, MD, Maryland Department of Health and Mental Hygiene
Joann Bodurtha, MD, MPH, FAAP, FACMG, NYMAC Co-Project Director
Luba Djurdjinovic, MS, Ferre Institute
Marcia Ehinger, MD, California Department of Health Care Services
Lisa Feuchtbaum, DrPH, MPH, California Department of Public Health
Pat Furlong, Parent Project Muscular Dystrophy
Susanna Ginsburg, MSW, SG Associates Consulting, LLC
Steve Holve, MD, Indian Health Service
Celia Kaye, MD, PhD (Chair)
Michele Lloyd-Puryear, MD, PhD
Jana Monaco, MS
Kimberly Noble Piper, RN, Bs, CPH, CPHG, Iowa Department of Public Health
Robert Ostrander, MD, Valley View Family Practice
Bradley Schaefer, MD, FAAP, FACMG, Heartland Program Co-Director
Jerry Shorter
Rani Singh, PhD, RD, LD, SERC Co-Project Director
Beth Tarini, MD, MS, University of Michigan
Tracy Trotter, MD, FAAP, Diplomat- American Board of Pediatrics
Susan Waisbren, PhD, Children’s Hospital Boston
Staff- American College of Medical Genetics and Genomics
David Flannery, MD, FACMG
Alisha S. Keehn, MPA
Debbie Maiese, MPA
Megan Lyon, MPH
Michael Watson, PhD, MS, FACMG
21
Appendix B: "Bucketed" Needs developed at the 2014 NCC/RC Project
Director/Project Manager Annual Meeting
A continuum
of care is
needed for
any
condition
which has a
genetic
etiology.
Population level vs. Individual level
22
Appendix C: Reference Literature
Baker, J., Crudder, S., Riske, B., Bias, V., and Forsberg, A. (2005). A Model for a Regional System of Care to
Promote the Health and Well-being of People with Rare Chronic Genetic Disorders. American Journal of
Public Health, 95 (11), 1910-1917.
Dash, P., Llewellyn, C., and Richardson, B. (2009). Developing a Regional Health System Strategy. Health
International. McKinsey International.
Fulton, TR., Penney, BC., Taff, A. (2001). Exploring a Chronic Care Model in a Regional Healthcare Context.
Healthcare Manager Forum 14(2): 6-24.
Guidelines for Clinical Genetic Service for the Public's Health. (April 1997). Council of Regional Networks
for Genetic Services (CORN), First Edition.
Kaye, C. (2012). Genetic Service Delivery: Infrastructure, Assessment and Information. Public Health
Genomics, 15(3-4), 164-171.
The UK Strategy for Rare Diseases. (November 2013). Department of Health- United Kingdom.
Variation in Health Care Spending: Target Decision Making, Not Geography, IOM Report. July 2013.
Wagner, E., Austin, B., and Coleman, C. (2006). It Takes a Region: Creating a Framework to Improve
Chronic Disease Care. California Healthcare Foundation.
23
Appendix D: List of Centers, Review Template, and Review Findings
Recommended Models to Review
MDA Clinics
CF Centers
Down Syndrome Speciality Clinics Database
Shriner’s Hospital for Children
CA Children’s Services
CA NBS Regional Model
WA State Model
HI State Model
Prader Willi
Hemophilia
Thrombosis and Hemostasis Centers Research and Prevention Network
OHSU and provider to AK for services
Carnio-facial programs
Project ECHO
Patience White Model for Center of Excellence for Transition
NCC/RC Model
Expand University-based models currently used by many genetics programs
Seattle Children’s
Jonathan Berg UNC
ARC of US
Charge
TS
NF
22q
Telemedicine Resource Centers
UK Regional Genetics Centers
VA Genetics Programs
LEND
OTIS
Fragile X
NC Regional Genetic Counselors Program
Informed DNA
Geriatric Chronic Care
VA Telemedicine
GC Telephone Service
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Regional Support Service Model Workgroup Model Review
Center Name:
Website Address:
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
Number and locations of
regional centers
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
Services provided (eg direct
care, enabling infrastructure
building, population based)
Funding
What is the source of funding
and the amount of funding over
a specified period of time?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices) and percentage
from all funding sources.
If there is a central
coordinating body, how is it
funded? (excluding physician
fees unless the central
coordinating body is the
recipient or payer of such fees)
Include budget when
available (if not available, include
% of budget used for services
being described)
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Regional Support Service Model Workgroup Model Review
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on impact or
outcomes
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
Please list any gaps/barriers
that you (as the reviewer) have
identified through the review
process:
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Regional Support Service Model Workgroup Model Review
State of Alaska Genetics and Birth Defects Program
Center Name: State of Alaska Genetics and Birth Defects Program
Website Address: http://dhss.alaska.gov/dph/wcfh/pages/geneticspecialty/genetic.aspx
Mission and Contact
The Alaska Pediatric Genetics Clinic offers genetics services for diagnosis and genetic
Information (if available) Includes counseling for children and their families with inherited conditions, chromosomal disorders,
specific services that the agency and birth defects.
engages in to address the
Meg Kurtagh
mission
Genetics Services Program Manager
Newborn Metabolic Screening Co-Manager
tel: 907-269-3430/margaret kurtagh@alaska gov
Organizational structure
The State of Alaska’s Section of Women’s Children’s and Family Health contracts with Oregon
How is the organization
Health and Science University Genetics Program to provide genetic clinics every other month
in Alaska. At these clinics clinical geneticists and genetic
organized internally (eg hub
counselors evaluate patients and make recommendations for their care.
and spoke model)?
Number and locations of
regional centers
Clinics are held across Alaska in Anchorage, Fairbanks, Juneau, and Ketchikan. Six clinics are
conducted per year. Each clinic is held in Anchorage for 2 days, then 1 to 2 days at other sites;
Fairbanks (3 times a year), Juneau (twice a year,) and Ketchikan (once a year).
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served.
The clinic is open to all Alaskan children through their 22nd birthday with possible
genetic conditions. Referrals come to the clinic from primary care providers and
specialists. Some of the common referrals are for children with birth defects or
suspected or known genetic disorders; families in which someone has the same
condition or disorder; and developmental delays where the child does not reach
developmental milestones on time, or they do not function developmentally,
intellectually, socially, or behaviorally as expected for age. Sensory impairment;
including vision or hearing problems is also a common reason for referral.
Approximately, 200 children are served each year in the genetics clinic.
Services provided (eg direct
care, enabling infrastructure
building, population based)
1.
2.
3.
4.
Enabling services
Recommendations for surveillance and testing
Parent education
Provider consultation
Funding
What is the source of funding
and for what amount?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices)
If there is a central coordinating
body, how is it funded?
(excluding physician fees unless
the central coordinating body is
the recipient or payer of such
fees)
1.
2.
3.
4.
Receipts from clinic fees (self-pay, private insurance)
Medicaid reimbursement
Title V Block Grant funds
WSGSC (covering travel costs for SOA staff to attend clinics)
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Regional Support Service Model Workgroup Model Review
State of Alaska Genetics and Birth Defects Program
Include budget when
available
How do they reach
underserved populations (if
they do)?
Clinics are held in different areas of the state to help reach more children and decrease
the travel burden to families. Medicaid will pay for travel to clinics for children enrolled in
Medicaid. Tribal Health will also pay for children to travel when they refer the children to
the clinic. If clinics were not held in these communities, families seeking genetics services
would need to travel outside of Alaska.
Cross-border challenges
N/A
(licensure, etc)
Data
Data is collected on:
What data are being collected by
1. Number of clinics
the center to indicate the
2. Number of patients seen at each clinic
magnitude and types of services
3. Reason for referral
provided? Is the
4. Outcome of visit
data collected to improve
5. Family satisfaction
health outcomes?
6. Patient demographics
Alaska has been participating in the IRB-approved WSGSC outcome survey to better
understand family perceptions of the clinics services and any associated outcomes.
Mental health services
provided
N/A, Families can be referred to the local Family to Family Health Information Center (Stone
Soup Group) if parents need assistance with supportive services, such as mental health.
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
Twice a year our genetic consultants deliver a continuing education presentation at
Pediatric Grand Rounds. Pediatric Grand Rounds are held on a weekly basis at various
hospitals in Anchorage.
N/A
The staff at the State of Alaska office includes a program manager, a 0.5 FTE genetic
counselor, a clinic coordinator, and administrative support.
Per the contract with OHSU, the genetic consultants provide telephone consultation when
needed to health care providers in Alaska. The SOA Genetics Program sought to create a
partnership with the OHSU Genetics Program and the Providence Children’s Hospital to
implement telehealth consultation on children seen in the NICU. Due to leadership changes at
the hospital, this has been put on hold.
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Regional Support Service Model Workgroup Model Review
State of Alaska Metabolic Clinic
Center Name: State of Alaska Metabolic Clinic
Website Address: http://dhss.alaska.gov/dph/wcfh/pages/geneticspecialty/genetic.aspx
Mission and Contact
The State of Alaska Metabolic Clinic provides biochemical genetic services. At these clinics, a
Information (if available) Includes metabolic geneticist and metabolic dietitian provide diagnostic care, follow- up, treatment
specific services that the agency and counseling for infants, children, and adults with metabolic genetic or suspected
engages in to address the
metabolic genetic disorders.
mission
Meg Kurtagh
Genetics Services Program Manager
Newborn Metabolic Screening Co-Manager
tel: 907-269-3430/[email protected]
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)?
The State of Alaska’s (SOA) Section of Women’s Children’s and Family Health (WCFH) contracts
with Oregon Health and Science University (OHSU) Genetics Program to provide metabolic
genetic clinics three times a year in Alaska. The clinics last three days and a metabolic
geneticist and nutritionist attend the clinics with SOA staff.
Number and locations of
regional centers
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served
Services provided (eg direct
care, enabling infrastructure
building, population based)
Clinics are held in Anchorage and Fairbanks three times a year.
Funding
What is the source of funding
and for what amount?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices)
If there is a central coordinating
body, how is it funded?
(excluding physician fees unless
the central coordinating body is
the recipient or payer of such
fees)
Include budget when
available
How do they reach
underserved populations (if
they do)?
The clinic serves infants and children diagnosed through the newborn metabolic
screening program, adults with metabolic conditions, and patients referred for
suspected metabolic conditions.
1.
2.
3.
4.
Enabling services
Recommendations for surveillance and testing
Parent education
Provider consultation
1.
2.
3.
4.
Receipts from clinic fees (private insurance or self pay)
Medicaid reimbursement from clinic billing
Title V Block Grant funds
WSGSC (covers the cost of SOA staff to travel to clinics)
Clinics are held in different areas of the state to help reach more children and decrease
the travel burden to families. Medicaid will pay for travel to clinics for children enrolled in
Medicaid. Tribal Health will also pay for children to travel when
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Regional Support Service Model Workgroup Model Review
State of Alaska Metabolic Clinic
they refer the children to the clinic. If clinics were not held in these communities,
families seeking genetics services would need to travel outside of Alaska.
Cross-border challenges
N/A
(licensure, etc)
Data
Data is collected on:
What data are being collected by
1. Number of clinics
the center to indicate the
2. Number of patients seen at each clinic
magnitude and types of services
3. Reason for referral
provided? Is the
4. Outcome of visit
data collected to improve
5. Family satisfaction
health outcomes?
6. Patient demographics
Alaska has been participating in the IRB-approved WSGSC outcome survey to better
understand family perceptions of the clinics services and any associated outcomes.
Mental health services
provided
N/A, Families can be referred to the local Family to Family Health Information Center (Stone
Soup Group) if parents need assistance with supportive services, such as mental health.
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
The nutritionist can help provide services for formula and medical foods between clinics. A
public health nurse in Fairbanks provides assistance to families in need of services. Families
can be referred to the local Family to Family Health Information Center (Stone Soup Group) if
parents need assistance with supportive services, such as mental health.
N/A
The staff at the SOA office includes a program manager/clinic coordinator, and
administrative support.
Per the contract with OHSU, the metabolic genetic consultant provides telephone
consultation when needed to health care providers in Alaska.
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Regional Support Service Model Workgroup Model Review
California Genetic Disease Screening Program (GDSP) Regional Newborn Screening Model
Center Name: California Genetic Disease Screening Program (GDSP) Regional Newborn Screening Model
Website Address: www.cdph.ca.gov/nbs
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
Mission: Early identification and initiation of treatment of babies with disorders on the
newborn screening panel in order to reduce the morbidity and mortality associated with
those disorders.
Contact Information: Richard Olney, MD, MPH
Division Chief, Genetic Disease Screening Program
(510) 231-7408
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)?
Newborn Screening is part of the Genetic Disease Screening Program (GDSP), a Division of the
Center for Family Health of the California Department of Public Health. GDSP contracts with
Area Service Centers and Special Care Clinics for follow-up and diagnostic services.
Positive newborn screening test results are immediately telephoned to a follow-up
coordinator at one of the Newborn Screening Area Service Centers throughout the State. The
coordinator contacts the newborn's physician to arrange for repeat testing. If repeat testing
determines that the baby has a disorder, the coordinator will supply the latest clinical
information on diagnosis and treatment and assist with referrals to special care clinics
(California Children’s Services Metabolic, Endocrine, Cystic Fibrosis, Sickle
Cell/Hemoglobinopathy or Immunology Centers) for diagnostic testing and follow-up.
Number and locations of
regional centers
7 Area Service Centers (ASCs)
14 Metabolic Special Care Clinics
16 Endocrine Special Care Clinics
16 Cystic Fibrosis Special Care Clinics
18 Sickle Cell Special Care Centers
2 Immunology Special Care Centers
See attached map and lists for locations
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served
Services provided (eg direct
care, enabling infrastructure
building, population based)
All newborns in California screened (approximately 500,000 per year):
1) All individuals with an initial positive, early, or inadequate newborn screening test result
(11,344 in 2014)
2) All individuals with a confirmed diagnosis detected via newborn screening (~ 850 per
year)
Funding
What is the source of funding
and for what amount?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices)
1) Population based newborn screening;
2) Care coordination after initial positive, early or inadequate NBS test; and
3) Direct services for diagnostic testing and initiation of treatment after newborn screening
(actual clinical consult is billed to third party payer and not covered by the GDSB contract)
Newborn screening user fee. Currently, $111.70 per newborn.
Current budget for entire NBS Program is approximately $56 million.
Of that, the current budget for ASCs and Special Care Clinics is approximately $5.7 million.
Area Service Centers are paid contracted amount for each patient provided approved
services.
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Regional Support Service Model Workgroup Model Review
California Genetic Disease Screening Program (GDSP) Regional Newborn Screening Model
If there is a central coordinating
body, how is it funded?
(excluding physician fees unless
the central coordinating body is
the recipient or payer of such
fees)
Include budget when
available
Special Care Clinics are paid contracted amount for providing diagnostic and treatment
data for each patient. Clinical services are billed to third party payers.
Laboratory services for screening and most types of diagnostic testing following the GDSPapproved protocol are also contracted by GDSP and paid for each service provided to
patient.
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Have providers who speak Spanish and materials in Spanish.
Have providers who speak other languages common in California and materials in those
other languages.
Cross-border challenges occur when babies born in a California require follow-up but have
moved/returned to homes out of state or south of the California border into Mexico.
Data
What data are being collected by
the center to indicate the
magnitude and types of services
provided? Is the
data collected to improve
health outcomes?
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
GDSP has a comprehensive data system that also collects short and long term follow- up data
from the ASCs and Special Care Centers. Data is used routinely for quality assurance and
improvement activities. GDSP has researchers on staff that use the data to improve program
function and outcomes.
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
As newborn screening is mandated for all babies born in California, maternity hospitals and
midwives can sign up to be NBS providers by providing the NBS Program with
the required information, including their license number and/or NPI number.
N/A since patients are seen at contracted specialty centers that would take make
appropriate referrals when necessary.
Educational materials for newborn screening, information on disorders on the NBS panel,
and referral and resource information are available on program website and in hard copy
when necessary. Materials are available in Spanish and other languages common in
California.
Clinical guidelines and protocols are provided for primary care providers and
specialists.
Each Area Service Center and Special Care Clinic is responsible for their own staff.
Area Service Centers provide telephone consultations to maternity hospitals, primary care
providers and Special Care Centers as needed.
Special Care Centers provide telephone consultation to primary care providers as
needed.
Hemoglobin trait and cystic fibrosis carrier counseling is routinely available by phone.
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Regional Support Service Model Workgroup Model Review
Cystic Fibrosis Centers/Cystic Fibrosis Foundation
Center Name: Cystic Fibrosis Centers/Cystic Fibrosis Foundation
Website Address: https://www.cff.org/
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
To cure CF and provide people with the disease opportunities to lead full, productive lives by
funding research and drug development, promote individualized treatment and ensure
access to high quality specialized care.
https://www.cff.org/
Fund and accredit more than 120 CF Care Centers and 55 affiliate Centers (96 for adults)
located at teaching and community hospitals across the country. Manage the CF Patient
Registry – provide two annual reports based on data. One for CF Center Directors and one for
more general use.
Education initiatives include development of national and Center-specific information
about CF, including information for other providers including PCPs and patients/families.
Colorado center ensures direct contact with PCP/local provider from initial visit to ensure
local assessment and communication between specialty visits.
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
Foundation is the main entity. Under foundation is CFFT (therapeutics development and
research arm). The foundation supports the care center network.
Almost all Centers are affiliated with an academic institution/hospital. There are not
sufficient funds from the CF Foundation to support all of the specific staff/services required
to be accredited as a Center by the CF Foundation, so to be a Center there usually is a
healthcare partner like a Childrens or University Hospital that will support the Center (e.g.
provide resources, staff salary).
National workgroups established to set guidelines and/or best practices, define
standards of care, and develop research agenda. Participation in site visits of other
Centers.
Number and locations of
regional centers
More than 120 care centers and 55 affiliates. Across the country (example NC has 5). No
change in approximate numbers, although over the years some Centers have lost accreditation
(usually loss of support from partner institution) and some new ones
have joined.
However, not all states have a Center (e.g. Wyoming). Patients are expected to travel to the
closest center for specialty care. Impression is providers in the CF system feel there is
sufficient coverage across the country.
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
All individuals with CF (adults and children) and those with positive newborn screens. Only
people with actual CF or CRMS (indeterminate state) are chronically followed, at least in
Colorado. Carriers are not generally seen unless there is a CF/CRMS family member.
28,000 people in database collected over the last 40 years
UNC example: 550 total patients, evenly divided between adults and children.
Colorado example: 750 total patients.
CFFT is also supporting a major international research collaboration, CFTR2, focused on
defining the relationships between specific mutations and symptoms of CF, which could also
help determine what other mutations might respond to CFTR modulators. Led by a team at
Johns Hopkins University, aided by researchers in Canada and Italy, CFTR2 has a growing
database of information on more than 40,000 people with C F, collected from patient
registries and care centers around the world.
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Regional Support Service Model Workgroup Model Review
Cystic Fibrosis Centers/Cystic Fibrosis Foundation
Services provided (eg direct
care, enabling infrastructure
building, population based)
Funding
What is the source of funding
and the amount of funding over
a specified period of time?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices) and percentage
from all funding sources.
If there is a central
coordinating body, how is it
funded? (excluding physician
fees unless the central
coordinating body is the
recipient or payer of such fees)
Include budget when
available (if not available, include
% of budget used for services
being described)
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on impact or
outcomes.
Mental health services
provided
Direct care based on care guidelines. Recommended that all (adults and children) patients
have visits to the center 4X per year – have lung function testing, respiratory culture, ht, wt,
BMI. Once a year they have lab studies and those 10 years and older have GTTs and meet
with SW, dietitian, RT and/or PT.
Most through philanthropy/fundraising efforts but last year had large income from one time
royalty from drug discovery agreement ($3 billion).
For 2014: philanthropy $133 million, royalities $9 million. Total $3,416,450,756
2013 total $405,530,384
Total assets of CF Foundation are almost $4 billion.
Expenses include funding for medical programs $144 million. Also
fund research.
Center funding from CF Foundation based on number of patients entered and sustained in the
CF Registry. More money if data are complete, less data if there are fewer visits or data are
incomplete – functionally sort of a pay-for-performance system as keeping visits per
recommended schedule (e.g. 4/year depending on age) and entering data regarding the
completion of all recommended care leads to more funding. Per Colorado Center, in principle,
the CF Foundation funds are intended to support staff and clinical resources necessary for
patient care; perhaps a different answer from other Centers (see Resources below). The funds
provided to any given Center are not sufficient to cover these services. Centers with
supportive academic institutions/hospitals may use CF Foundation funds to cover research
activities – not necessarily just entering registry clinical data - and rather than using it for direct
clinical care.
For the Center: medical services (fee for service) billed to Medicaid or insurance as for any
medical care, except social work. Estimated 45% Medicaid in Mountain West
Utilize resources for patients at hospitals where there are CF Centers such as
transportation. ? specific program for this
CF Foundation also has patient assistance. In the Mountain West area, at least, patients
are expected to come to the closest Center. No one is turned away regardless of
insurance status; CFF may have some patient/family assistance but basically rely on
partner institution/hospital – no specific CF “indigent fund”
None identified
In Mountain West area, outreach clinics are usually conducted within state borders or
patients cross borders but not providers.
Annual reports based on patient registry that guide treatment and compare center
outcomes (CF Center directors can see how their center compares with the others
https://www.cff.org/2013_CFF_Annual_Data_Report_to_the_Center_Directors.pdf) These
assist care teams providing care to individuals with CF and guide quality improvement
initiatives at care centers.
Researchers can use patient registry to study CF treatments and outcomes and help
design CF clinical trials
The foundation is working on making resources available to hire mental health professionals
as this has been identified as a general need. Per Colorado Center, this is a specific new formal
initiative via an RFA to support pilot projects/positions, with intent to create positions that
hospitals/institutions would sustain based on demonstrated value.
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Regional Support Service Model Workgroup Model Review
Cystic Fibrosis Centers/Cystic Fibrosis Foundation
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
CFF helps fund the centers including someone to enter data into the patient registry. The
amount given is determined by a formula based on number of patients with data entered (so
incentivize this way) and includes whether guidelines met (4 visits in a year, full set of data,
etc). At UNC there is one person FTE supported by CF Center grant responsible for entering
all of the data.
CFF has criteria. Center seeking accreditation sends application to CFF , reviewed and site
visit (1-2 days) by CFF. Centers have to send in annual reports and are site visited every 5
years. Centers are also site visited if they have a change in directorship. May be approved,
given probation.
Evaluation includes percent of sweat chloride tests insufficient sample, etc.
Must see a minimum number of patients. Specific staffing requirements to be
considered for accreditation:
1. M.D.’s: 1 Full Time Equivalent (FTE) per 100 – 150 patients. Please note, there is
a minimum requirement of 2 M.D.’s per center.
2. R.N.: 1 FTE per 100 – 200 patients.
3. Social Worker: 1 FTE per 100 – 200 patients.
4. Dietitian: 1 FTE per 100 – 200 patients.
5. Respiratory Therapist: 1 FTE per 100 – 200 patients.
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
MDs, nurses, nurse practitioners, SW, PT, respiratory therapists. There are also guidelines
that require access to other specialists as needed (genetic counselors, surgeons, GI, ENT,
etc).
No telemedicine done at UNC, not sure about other centers.
No telemedicine in Colorado but considering it, not sure about other centers
MDs consult frequently by phone or email with outside physicians to develop care plans
for patients.
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Regional Support Service Model Workgroup Model Review
Project ECHO
Center Name: Project ECHO
Website Address:
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
Mission of Project ECHO (Extension for Community Healthcare Outcomes) is
to expand the capacity to provide best practice care for common and complex
diseases in rural and underserved areas and to monitor outcomes. The ECHO model™
breaks down the walls between specialty and primary care.
Contacts: Fred (John) Thomas, PhD [email protected]
Web url: http://echo.unm.edu/about-echo/model/; http://echocolorado.org/
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
Number and locations of
regional centers
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
Links expert specialist teams at an academic ‘hub’ with primary care clinicians in local
communities – the ‘spokes’ of the model. Together, they participate in weekly
teleECHO™ clinics, which are like virtual grand rounds, combined with mentoring and
patient case presentations. Non-profit
4 components:
-Use Technology (video conferencing and internet) to leverage scarce
healthcare resources
- Disease Management Model focused on improving outcomes by reducing
variation in processes of care and sharing “best practices”
-Case based learning: Co-management of patients with specialists (Learning by
Doing)
HIPAA
t
t centers
li d d t b
t
it
t
<10
Academicli medical
?? community provider groups/clinics
Community providers whose patients have limited access to specialty care
providers; FQHCs, community clinics.
List of diseases covered is growing.
Cancer genetics ECHO clinics started in Utah in August 2015
Characteristics that make a disease amenable to treatment using knowledge
networks:
1.
2.
3.
4.
5.
6.
Services provided (eg direct
care, enabling infrastructure
building, population based)
The disease is common.
The disease has complex management.
Treatment for the disease is evolving.
The disease has high societal impact.
There are serious outcomes of failing to treat the disease.
Improved outcomes can be obtained with disease management.
Specialists consult with community providers to assist them in providing care for
patients who need specialty care services for common, but complex diseases.
Steps:
-Train physicians, mid-levels, nurses, pharmacists, patient educators
- Conduct telemedicine clinics – “Knowledge Network”
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Regional Support Service Model Workgroup Model Review
Project ECHO
- Initiate co-management – “Learning loops”
-Collect data and monitor outcomes centrally
- Assess cost and effectiveness of programs
Funding
What is the source of funding
and the amount of funding over
a specified period of time?
Multiple sources: AHRQ, CDC, CMS, Foundations, DoD, VA, NM Dept of Health;
Funding is for building/maintaining infrastructure or individual/disease- specific
clinics, eg Hep C
Utah ECHO for genetics funded by CDC grant to State Health Dept
Amount of funding: ??
How do they reach
underserved populations (if
they do)?
Market to community providers via list-serves; working with sales reps for
Myriad and Ambry to spread the word; elicit help from public health and
community health organizations to market sessions
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on impact or
outcomes.
None identified – not providing direct patient care
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Some ECHO sessions offer clinics on behavioral and mental health issues
Telephone Consultation
Telegenetic technology
(current or planned usage)
Need infrastructure to support teleconferencing – support for set up is
provided by central coordinating center
- Collect data and monitor outcomes centrally (#clinics provided, #participants,
# follow-up sessions; pre-post surveys to assess change in knowledge,
confidence in treating patients)
- Assess cost and effectiveness of programs (direct and indirect – improved patient
outcomes, reduce travel time to see specialists, reduce time away from work…etc)
Resource = access to specialty providers during ECHO session. IT help;
referrals to specialists in the area
Providers get CMEs for participation
Anyone can register for session; via phone, internet, video-conferencing; sign up online
Coordinator – organizes sessions (recruits specialists, sends out notices about clinics)
IT support – to help clinics secure technology in order to participate
Specialty providers that provide clinical consult
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Project ECHO
Please list any gaps/barriers
that you (as the reviewer) have
identified through the review
process:
Pros: model allows for broad dissemination; can reach rural and underserved
populations; provides support to physicians who want to provide genetics services
(this will improve access); promotes standardized, evidence-based care; relatively
inexpensive to deliver;
Cons: not direct to patient care; challenges getting providers to sign up (need
marketing strategy), providers are busy; Utah exploring if insurers are interested in
promoting program with provider groups and/or requiring that their providers
attend a session; mostly not preventive care - targeted to patients with disease and
to those who show up in doctors office
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Regional Support Service Model Workgroup Model Review
Geisinger
Center Name: Geisinger
Website Address:
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
Geisinger Health System
It is our mission to enhance quality of life through an integrated health service organization
based on a balanced program of patient care, education, research and community service.
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
Number and locations of
regional centers
Non-profit healthcare delivery system
Hospitals
Providers
Health Plan
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
Services provided (eg direct
care, enabling infrastructure
building, population based)
Funding
What is the source of funding
and the amount of funding over
a specified period of time?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices) and percentage
from all funding sources.
If there is a central coordinating
body, how is it funded?
(excluding physician fees unless
the central coordinating body is
the
Genomic Medicine Institute
Oncology Genetic Services
Clinical Genomics
Pediatric Medical Genetics
Maternal Fetal Medicine Genetic Counseling
1,100 member multi-specialty group practice
8 hospital campuses
2 Research centers
467,000 member health plan
2.6 million residents in 44 counties in Central Pennsylvania and Atlanticare in Atlantic
City, New Jersey.
All aspects of healthcare delivery including direct care, both inpatient and outpatient
services, long-term care and population based measures.
All service is primarily reimbursement driven. Physicians, including medical geneticists bill for
their patient visits. Genetic counselors do not currently bill for their visits, but there is slow
progress being made to enable billing for services provided in the future. At this time, the
clinical departments pay for the genetic counselor clinical FTE through clinical revenue. Many
of the genetic counselors at Geisinger have split time between clinical FTEs and research FTEs.
The research FTEs are paid for by a wide variety research grants and contracts. Genetic
counseling is not covered by every payer plan recognized by Geisinger. While Geisinger is an
integrated health system, there are a variety of insurance plans that cover Geisinger patients.
About 35% of patients are covered by Geisinger Health Plan.
Clinical Genetic Counselors
1.5 FTE Oncology
3 FTE Peds Medical Genetics
2 FTE Clinical Genomics
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Regional Support Service Model Workgroup Model Review
Geisinger
recipient or payer of such
fees)
Include budget when available
(if not available, include % of
budget used for services being
described)
1.4 FTE MFM
MD Geneticists
2.0 FTE Peds Medical/Metabolic Genetics
1.5 FTE Clinical Genomics
NP/PA-C Genetics
1.0 NP
1.0 PA-C
Research Genetic Counselors
8.8 FTE Various Grants and contracts
Program Directors (MD)
1.5 Medical Geneticists
How do they reach
underserved populations (if
they do)?
Geisinger has a variety of clinics throughout the coverage area. Genetic services require travel
to a small number of locations. Telephone and telemedicine counseling are used when
possible, though reimbursement is not possible within our institution for either service
delivery type.
New Jersey and Pennsylvania licenses required if practicing in New Jersey and
Pennsylvania.
We have a variety of ongoing studies evaluating genetic counselor outcomes in research as
well as in Cancer genetic counselor services. We are using standardized, validated outcome
measures in survey format as well as conducting qualitative interviews when appropriate
measures do not seem to be available.
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on impact or
outcomes
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
NA
Hughes Risk Apps Oncology high risk providers
Business partnership/ownership by Geisinger
We are in need of more genetic counselors.
The technology is available throughout our system. However our revenue management
folks indicate that because Medicare does not recognize genetic counselors as billable
entities, they will not allow telemedicine billing as telemedicine billing is based on Medicare
regulations.
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Regional Support Service Model Workgroup Model Review
Hawaii Department of Health Genomics Section/Hawaii Community Genetics
Center Name: Hawaii Department of Health Genomics Section/Hawaii Community Genetics Website
Address: http://health.hawaii.gov/genetics/hcg/ and
https://www.hawaiipacifichealth.org/kapiolani/services/genetics/
Mission and Contact
The mission of the Department of Health is to protect and improve the health and
Information (if available) Includes environment for all people in Hawaii.
specific services that the agency
The Genomics Section provides: oversight , services, and care coordination for newborn
engages in to address the
metabolic and hearing screening; information and education about topics in genetics,
mission
newborn screening and birth defects; assistance in assuring the availability of genetic and
newborn screening services; technical assistance for other
Department of Health and community programs; and administration of grants related to
genetics, newborn screening, and birth defects.
Sylvia Mann, M.S., C.G.C.
(808) 733-9063
[email protected]
Hawaii Community Genetics provides comprehensive and compassionate care for the people
of Hawaii, including education for medical personnel and the community about the exciting
and ever-changing field of medical genetics.
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)?
The State of Hawaii Department of Health administers its Genomics Section under the
supervision of the Family Health Services Division, Children with Special Health Needs Branch.
The Genomics Section oversees the Newborn Metabolic and Hearing Screening Programs,
Birth Defects Program, and the Genetics Program.
Hawaii Community Genetics (HCG) is a unique collaborative effort of the Hawaii Department
of Health, Kapiolani Medical Center for Women and Children (KMCWC), and University of
Hawaii John A Burns School of Medicine to provide pediatric and adult clinical genetic
services and education to the community in Hawaii. KMCWC provides the organizational
administration for HCG.
HCG is dedicated to caring for individuals of all ages who are affected by birth defects,
developmental concerns and genetic conditions. The clinic provides both inpatient and
outpatient consultations, including one outreach clinic a month to a neighbor island and
telemedicine services for neighbor island families. The following specialty clinics are also
available through the clinic:
Hemoglobinopathy Clinic: Specializes in caring for individuals and families who are affected
with or carriers for alpha thalassemia, beta thalassemia, sickle cell anemia, glucose-6phosphate dehydrogenase deficiency, hemoglobin variants, or other inherited anemias.
Kulana Malama Outreach Clinic: Inpatient genetics consultations for residents of Kulana
Malama. We team up with the nursing home’s medical staff to provide diagnosis and
management for medically fragile children.
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Hawaii Department of Health Genomics Section/Hawaii Community Genetics
Metabolic Genetics Clinic: Provided by a team of specialists, this clinic cares for children and
families with known or suspected inborn errors of metabolism. Our state screens for 32
disorders, and most of the conditions screened for are metabolic disorders. Early diagnosis
and treatment of inborn errors of metabolism may help prevent intellectual disabilities,
developmental delays, organ damage, and, in some cases, death.
Kapiolani Cleft and Craniofacial Center: Located at Kapiolani Medical Center, this clinic
provides comprehensive diagnostics and treatments for children born with a cleft lip and/or
palate and children born with craniofacial anomalies. Other reasons for children to come to
this clinic include a sub-mucous cleft palate, speech concerns (e.g. hyper-nasal speech) and
dental concerns related to the above conditions. We provide genetic counseling at this clinic.
Adult Cancer Risk Assessment Program: The aim of the Cancer Genetics Program is to identify
individuals who have inherited an increased risk of cancer, provide accurate risk assessment
for these individuals and their family, aid in the appropriate genetic testing, and educate them
about available screening and cancer prevention strategies. A physician referral is encouraged.
Fetal Alcohol Spectrum Disorder (FASD) Diagnostic Clinic: This clinic is designed to evaluate
infants, children, adolescents, and adults who are suspected of having Fetal Alcohol
syndrome or a related condition. Fetal Alcohol Syndrome may be considered when there is a
history of maternal alcohol use during pregnancy associated with short stature, poor weight
gain, small head size, delays in development and/or behavioral concerns. Fetal Alcohol
Syndrome can be diagnosed in some individuals who have characteristic features even if the
history of maternal alcohol use is
unknown. Patients may be self/family-referred or referred by school or a social service
agency, but referral from the primary physician is encouraged and may be necessary for
insurance coverage.
Number and locations of
regional centers
The main HCG office is located in Honolulu. Neighbor island clinics are held at least once
per month on one neighbor island site. The sites include: Hawaii island (Hilo, Kona, Waimea),
Maui, Kauai, and Molokai.
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served.
HCG mainly sees pediatric patients with or at risk for a genetic condition including those
detected through newborn screening. HCG also does see adult patients and an occasional
prenatal patient.
Services provided (eg direct
care, enabling infrastructure
building, population based)
For FY2015:
General: 525
Cancer: 342
Metabolic and Hgb: 188
Neighbor Island: 87
TOTAL: 1142
1. Direct services (genetics evaluation and counseling)
2. Care coordination
3. Parent education
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Regional Support Service Model Workgroup Model Review
Hawaii Department of Health Genomics Section/Hawaii Community Genetics
4.
5.
6.
7.
Funding
What is the source of funding
and for what amount?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices)
If there is a central coordinating
body, how is it funded?
(excluding physician fees unless
the central coordinating body is
the recipient or payer of such
fees)
Include budget when
available
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Data
What data are being collected by
the center to indicate the
magnitude and types of services
provided? Is the
data collected to improve
health outcomes?
Provider consultation
Education for medical students and residents
Birth defects program clinical review
Consultation to public health programs
1. Receipts from billing
2. Contracts from Department of Health:
• Newborn Metabolic Screening Program: $50,000 (State special funds)
• Birth Defects Program: $10,000 (State special funds)
• Genetics Program: $35,000 (mixture of federal funds not Title V)
3. University of Hawaii John A Burns School of Medicine salary as faculty for clinical
geneticists
4. KMCWC funding
Provide outreach clinics to neighbor islands and telehealth. Have interpretation service
for non-English speaking families.
HCG also has done Guam outreach in-person clinics and is available for telehealth consults
for the newborn screening program.
Data is collected on:
1. Number of clinics
2. Number of patients seen at each clinic
3. Reason for referral
4. Outcome of visit
5. Family satisfaction
6. Patient demographics
7. Billing and payment
Hawaii has been participating in the IRB-approved WSGSC outcome survey to better
understand family perceptions of the clinics services and any associated outcomes.
Mental health services
provided
Social work services, including referral for mental health services, is available through
KMCWC. The Department of Health can also refer to the programs in the Children and
Adolescent Mental Health Division.
The Department of Health Genomics Section and HCG organize regular education sessions
for the community, continuing medical education for health care providers, and speakers
for high school and university classes.
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
Educational materials and program/service protocols are available on the Genomics
Program website.
How does an entity (clinic,
provider, etc) become a part
A health care center can become a collaborator with HCG by providing support for
HCG usually through a contract.
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Regional Support Service Model Workgroup Model Review
Hawaii Department of Health Genomics Section/Hawaii Community Genetics
of the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
HCG currently has:
1 M.D. geneticist and one vacant M.D. geneticist position
1.0 FTE genetic counselor
0.8 FTE genetic counselor
1.0 equivalent (adding up time of 3 genetic counselors from DOH) genetic counselor
1.0 FTE medical assistant
1.0 FTE clerical
Telehealth is available for HCG to use.
Will be increasing genetic counseling using telehealth for NBS follow-up (alpha
thalassemia and CF carriers) and whole exome sequencing consenting using Genomics
Section telehealth equipment in November 2015.
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Regional Support Service Model Workgroup Model Review
Hemophilia (Thrombosis) Treatment Centers; National Hemophilia Program
Center Name: Hemophilia (Thrombosis) Treatment Centers; National Hemophilia Program
Website Address: http://mchb.hrsa.gov/programs/hemophilia/index.html
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
The National Hemophilia Program located within HRSA and the Maternal & Child Health
Bureau promotes providing comprehensive care for people with hemophilia and related
bleeding disorders and their families through an integrated regional network of treatment
centers. The program encourages grantees and subgrantees to work with Federal, State, and
community partners to establish models of care in a culturally sensitive, family-centered
coordinated manner.
Grantees perform the following:
• Developing medical, mental, social, peer support, and genetic counseling services for
adolescents, including those services needed to make transitions to aspects of adult
life including adult health care, work, and independence.
• Providing services for women, including genetic testing, counseling, and education
efforts for women including women with congenital bleeding disorders, partners of
individuals with hemophilia, and women having potential carrier status.
• Continued outreach to persons with hemophilia and other bleeding disorders
that are not being treated within the federal network and are not receiving
appropriate care.
• Providing HIV/AIDS prevention, education, screenings, and diagnostic services to
hemophilia and other bleeding disorder patients within the federal HTC network.
Upon the diagnosis of HIV/AIDS, HTCs also provide treatment, monitoring, care
coordination and continued educational services to these patients.
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
A practice is designated a Hemophilia Treatment Center (HTC) through the receipt of
HRSA/MCHB grant funding (see requirements below) through the National Hemophilia
Program, although some HTCs are supported by CDC funding without HRSA grant funds. The
Program is divided into 8 regions (HRSA) or 10 regions (CDC) with a Regional Director and
Regional Coordinator. This Regional Office is responsible for technical assistance, reporting of
data for national projects, grant application and oversight and training. Funding awarded to
the Region is divided among all the designated HTCs within the Region.
Regional and national meetings are held and there is a National Hemophilia Program
Coordinating Center located at ATHN (see below). This funding began in 2013. HTCs have also
been involved the CDC Hemophilia Program, contributing to a national surveillance project
through ATHN called Community Counts. There is a registration form that collects historic
information, an annual form and a population profile as well as a mortality form. The focus is
on blood safety and reduction of joint disease and inhibitors.
The HTCs collect data into a national database provided through American
Thrombosis and Hemostasis Network (ATHN), a non-profit organization funded through
multiple sources including pharmaceutical companies, with “commitment to advancing and
improving care for individuals affected by bleeding and thrombotic disorders. ATHN manages a
national database of patient health data that can be used to improve care and support vital
research.” https://athn.org/
Number and locations of
regional centers
~140 HTCs. Variable distribution (e.g. 13 in Michigan, >40 in the Northeast US, none in 2
states).
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Regional Support Service Model Workgroup Model Review
Hemophilia (Thrombosis) Treatment Centers; National Hemophilia Program
Some HTCs are small (<20 patients) and may be in non-academic settings, but generally not
typical private practices or small institutions given lack of expertise and expense of
treatments.
Affiliate clinics are permitted, but the HTC must share grant funding and resources with
that affiliate out of their funds.
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
Any adult or child with hemophilia, vonWillebrand disease, other bleeding disorders and
thrombophilias (hereditary thromboses).
Patient populations in US for 2014 served by the HTCs:
Hemophilia A/B 17,000
VWD 11000
Other factor deficiencies 1750
Other bleeding disorders 3400
Clotting disorders 9107
Patients with bleeding disorders seen by HTCs in prior years 11,900
Services provided (eg direct
care, enabling infrastructure
building, population based)
Direct multidisciplinary care from physicians, advanced practice providers, nurses,
physical therapists, social workers. No specific consensus disease management guidelines
used across HTCs regarding frequency of visits, types and utilization of preventative
services, management of complications, measurement of outcomes. Standardized
guidelines about models of care are being developed through NHF/McMaster/HTCs.
Interestingly, not all HTCs have a hematologist.
Funding
What is the source of funding
and the amount of funding over
a specified period of time?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices) and percentage
from all funding sources.
If there is a central coordinating
body, how is it funded?
(excluding physician fees unless
the central coordinating body is
the recipient or payer of such
fees)
Include budget when
available (if not available, include
% of budget used for services
being described)
HRSA/MCHB funds Regions; each Region meets to divide up the funds among HTCs
depending on needs, ongoing projects, etc.
340(b): HTC can elect to buy factor concentrate at a Federal rate (deeply discounted)
and sell at a higher price to patients; factor is still significantly cheaper for patient through
this program. HRSA/MCHB mandates that the margin must go to directly back to Center
patient services that are identified through the MCHB/HRSA grant. HRSA grants funds are
insufficient to support HTCs, so 340(b) funds support most of the services provided.
However, not all HTCs participate in the 340(b) program and rely on affiliation with
hospital/academic institutions to support necessary site staff. The National Hemophilia
Foundation through its Medical and Scientific Advisory Council have laid out Standards and
Criteria for Care of Persons with Congenital Bleeding Disorders:
http://www.hemophilia.org/Researchers-Healthcare- Providers/Medical-and-ScientificAdvisory-Council-MASAC/MASAC- Recommendations
How do they reach
underserved populations (if
they do)?
Patients are expected to attend HTCs; many Centers offer outreach clinics or establish
affiliates (but need to resource and fund out of their own budget). Insurance barriers vary
depending on restrictions at a given hospital or institution (e.g. may require collection of copays or professional fees). Centers, national hemophilia advocacy organizations sometime
have patient assistance (e.g. transportation). With
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Regional Support Service Model Workgroup Model Review
Hemophilia (Thrombosis) Treatment Centers; National Hemophilia Program
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on impact or
outcomes
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
health cooperatives, HTCs are not considered an essential service so some HTCs may be
cut out of networks through the ACA. A significant referral network with community
providers to the HTCs for specialty care is in place.
Providers obtain licenses in states if outreach clinics in other states.
ATHN database has already demonstrated data on population outcomes.
Subsequent years with data collection including intervention will demonstrate benefits. UDC
database resulted in publications about better outcomes for groups of patients seen in HTCs
vs. not. A National Patient Satisfaction Survey was conducted in early
2015 to assess patient satisfaction at Centers.
Use of institutional/hospital-based services where available. Community referrals.
Centers have social workers that provide some mental health services in-house.
Funding as noted through HRSA grant. ATHN national database functions as central
coordination beyond data collection.
Currently all patients have access to free genotyping through a university/National Hemophilia
Foundation and pharmaceutical sponsor – goal to genotype all hemophilia patients in the US
for genotypic/phenotypic correlation. Some patients decline since it is sponsored by a
company although nearly 5000 persons with hemophilia have participated to date.
ATHN database is a centralized record that patients and providers can access
nationally or internationally when traveling or moving.
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Application to the Regional leadership. Each region has specific requirements what it takes to
become a recognized center. Requirements include staffing (physician, nurse, physical
therapist, social worker) and access through referral to other services, including genetic
counseling, orthopedics, infectious disease, mental health services, etc. Assessed at Regional
level approval is needed within context of need, proximity to other HTCs, patient population
base, etc. , level of experience and expertise of providers. Historically Centers have lost
designation as HTC and grant support if they cannot sustain staffing/infrastructure.
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
Centers with 340(b) funds can often staff as needed; Centers which rely on academic
institution/hospital may have more challenges.
Telehealth is done by numerous clinics; all HTCs offer telephone consultation as is
traditional in academic medicine. Communicate with and support of local pediatric
heme/onc and family medicine providers for patients at a distance.
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Informed DNA- Not Reviewed
Center Name: Informed DNA
Website Address:
Mission and Contact
Information (if available)
Includes specific services that
the agency engages in to
address the mission
[email protected] or 1-800-975-4819
The mission of InformedDNA is to empower people and organizations in search of
genetic information or counseling with expert genomic health information; bringing
the promise of personalized healthcare to life through a better understanding of
family health history and genetics.
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)?
Non-profit, for profit,
government agency?
Number and locations of
regional centers
Patients/population s
served
Indicate population the
center is attempting to
reach (eg all individuals with
Down Syndrome in a state)
and the actual number
served (within the context of
a time frame)
Services provided (eg
direct care, enabling
infrastructure building,
population based)
Leadership Team (CEO, Medical Geneticist, CGrowthO, CTO, CFO GC for VP of Clinical
Services, GC for VP Provider and Client Services) Board of Directors, Advisory Board
(Medical Geneticist sits on all three). Sub-specialty genetic counseling teams, each with
a Team Leader (i.e. cancer, reproductive, cardiac, neuro, ocular, peds, genomics and
innovation).
Funding
What is the source of funding
and the amount of funding
over a specified period of
time? Include mechanism
for how funds are distributed
(eg accreditation,
reimbursement, satellite
n/a, virtual network with remote service delivery model
Nationwide service genetic counseling service by phone/internet. Providing access to
GC services for individuals in remote locations who may not have access to a face-toface GC or those who are unable to take time off work for a GC appt (available appts
include evenings and weekends). Interpreter services available for non-english
speaking and deaf or hard of hearing patients.
Genetic Counseling in the areas of cancer, reproductive, cardiac, neuro, ocular, adult
and pediatric genetics. Provides comprehensive clinical genetic counseling,
coordination of appropriate genetic testing with the patient’s ordering HCP and
results disclosure, medical management discussion. InformedDNA is not a laboratory.
Reimbursement from third party payers and health system contracts to provide
genetic counseling services.
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Regional Support Service Model Workgroup Model Review
Informed DNA- Not Reviewed
offices) and percentage
from all funding sources. If
there is a central
coordinating body, how is it
funded? (excluding physician
fees unless the central
coordinating body is the
recipient or payer of such
fees)
Include budget when
available (if not available,
include % of budget used
for services being described)
How do they reach
underserved populations
(if they do)?
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on
impact or outcomes.
Mental health
services provided
Resources
Is there a set of resources
that the central coordinating
body makes available to
satellite centers? If so, what
are these resources?
All services are available via telephone.
Genetic counseling is available to patients in the United States. International services
are not currently available. When state licensure is applicable, Genetic counselors are
licensed in the states in which the patients reside.
Patient and provider satisfaction surveys.
n/a
n/a
How does an entity
(clinic, provider, etc)
become a part of the
system? (application,
evaluation process, etc)
Genetic Counselors can apply for part-time (minimum of 20 hours a week) or full-time
employment. Health care providers can refer their patients for genetic counseling
services with no contractual obligations in the same way they may refer patients to
any specialist. Health systems and payers can contract with InformedDNA to provide
services to their patients.
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Administrative teams, registration/scheduling, patient care coordination and
genetic counselors, managers.
All services are entirely phone and/or internet based.
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Regional Support Service Model Workgroup Model Review
Louisiana Office of Public Health, Genetic Diseases Program
Center Name: Louisiana Office of Public Health, Genetic Diseases Program
Website Address: www.genetics.dhh.louisiana.gov
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
Number and locations of
regional centers
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
Services provided (eg direct
care, enabling infrastructure
building, population based)
To operate a comprehensive newborn heel stick screening program that meets
national standards and to ensure access to genetic evaluation, treatment and
counseling to residents in all areas of Louisiana.
Contact: Cheryl L. Harris, email:[email protected], phone: 504-568-8254
The Louisiana Department of Health and Hospitals (DHH) is a state governmental agency
composed of several offices and service authorities tasked to ensure access to medical,
preventive and rehabilitative services for all citizens of the State of Louisiana. The Genetic
Diseases Program operates under DHH’s Office of Public Health. The Program has 6 staff
members and contracts with Tulane and LSU Medcial School Genetics Centers for outreach
clinics and NBS followup services.
The Genetic Diseases Program has metabolic clinics at regional health units in Baton Rouge,
Thibodaux, Lafayette, Lake Charles and Hammond. Clinics for patients with Sickle Cell Disease
are held at regional health units in Alexandria and Monroe.
The primary recipients of services are all babies born in Louisiana, residents of Louisiana
affected by one of the 28 genetic or metabolic conditions tested for on the newborn
screening panel, and residents with other genetic anomalies.

Newborn screening (January 1, 2014 – December 31, 2014)
Number of unduplicated newborns screens /number of babies born: 64,353/64,353
(100%)
Genetics & Sickle Cell Clinics (January 1, 2014 – December 31, 2014),

unduplicated clients/patients):
Total Served: 557
Newborn Heel Stick Screening and Follow-up
The purpose of these services is to ensure the early detection and treatment of newborns
with the diseases as listed on the newborn screening panel. In accordance with state law
and rule (see state mandates above), all newborns in the state are screened before
discharge from the hospital. Currently there are 28
diseases on the newborn screening panel which reflects the core panel recommended
by the American College of Medical Genetics. The most familiar diseases listed on this panel
are PKU, congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis,
biotinidase deficiency, galactosemia, sickle cell disease, argininosuccinic aciduria,
citrullinemia, homcystinuria, maple syrup urine disease and medium chain acyl coA
dehydrogenase deficiency. The symptoms associated with these diseases, when untreated,
may include mental retardation for PKU and congenital hypothyroidism, seizures and other
neurological sequelae for biotinidase deficiency and galactosemia, and life-threatening
infections in the first few years of life for sickle cell disease patients.
Services provided include:
 Funding for laboratory testing by the Public Health Laboratory
 Follow-up and tracking of positive screening results as reported by the Public
Health Laboratory and PerkinElmer Genetics.
 Referral of cases into specialized medical care
 Two Sickle Cell Centers (New Orleans and Shreveport) and regional sickle cell clinics
 Metabolic clinics
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Regional Support Service Model Workgroup Model Review
Louisiana Office of Public Health, Genetic Diseases Program
 Provision of special formulas for patients with a genetic metabolic disorder such
as PKU
 Review of the labs approved by OPH to perform newborn screening to assure
compliance with rule requirements
 Sickle cell trait counseling for affected parents and families
 Surveillance reporting
Clinical Genetics & Sickle Cell Services
The purpose of these services is to ensure that evaluation and counseling is accessible to
individuals in all regions of the state through the operation of genetics & sickle cell clinics at
parish health unit sites, certain public hospitals, and the medical centers associated with the
three medical schools. Providing an accurate diagnosis can be life saving for some patients as
there may be treatment for the disorder. Services provided include:
 Genetic evaluation and counseling available at genetics clinics in all regions
 Cytogenetic and biochemical genetics lab testing through the three Louisiana
medical schools (essential lab testing for making an accurate diagnosis)
 Special regional educational and support groups for patients and parents
(Sickle Cell Foundations)
Funding
What is the source of funding
and the amount of funding over
a specified period of time?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices) and percentage
from all funding sources.
If there is a central coordinating
body, how is it funded?
(excluding physician fees unless
the central coordinating body is
the recipient or payer of such
fees)
Include budget when
available (if not available, include
% of budget used for services
being described)
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of
State Fiscal Year 2015 Funding ( 7/1/14 – 06/30/15)
Total Annual Federal Funding: $780,000
Total State General Funding: $1,609,068
Total Interagency Transfer Funding: $1,215,000
Total Self-Generated Funding: $1,885,000
Total Other Sources: $2,415,000
GRAND TOTAL FUNDING: $7,904,068
Total Revenue Generated (include fees, Medicaid, etc.):7,904,068
Sources of Revenue: Medicaid reimbursement from newborn screening, sale of newborn
screen blood spot collection forms, MCH block grant, state general funds
approx 50% of funds are dedicated to NBS Lab support
This is a short term follow-up program. If a newborn has a presumptive positive result, the
infant is followed until a condition is confirmed or ruled out.
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Regional Support Service Model Workgroup Model Review
Louisiana Office of Public Health, Genetic Diseases Program
your services? Please share any
data you have on impact or
outcomes.
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
Please list any gaps/barriers
that you (as the reviewer) have
identified through the review
process:
None
Contracts with metabolic centers to provide medical case management and
treatment.
If an entity has services that are relevant to the program (board certified biochemical
geneticist, hematologist, pulmonologist, etc.), that person can contact the Genetics
Program to determine if contracting opportunities are available.
Staffing needs within the program are ok.
Not currently planned.
The biggest barrier is the provision of genetics clinics in the northern area of the state
(Alexandria, Monroe and Shreveport). This is currently due to a lack of funding to increase
contracts for those areas.
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Regional Support Service Model Workgroup Model Review
MDA Clinics-DRAFT
Center Name: MDA
Website Address: http://www.mda.org/
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
Number and locations of
regional centers
To save and improve lives of people fighting muscle disease as we: find
treatments and cures; support families; and rally communities.
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
Services provided (eg direct
care, enabling infrastructure
building, population based)
Individuals affected by a neuromuscular disorder included in MDA’s program such
as muscular dystrophy and amyotrophic lateral sclerosis (ALS).
100,000 individuals received care or support in the past year; 57,000 visits to all
MDA clinics; 3,700 campers at 80 MDA summer camps; 1,200 support group
sessions in 2014;
$33 M went to fund 250 different research projects
DIRECT CARE - MDA health care service coordinator (HCSC) is a central figure at clinic
visits. He or she is usually present on clinic days to answer questions, distribute MDA
educational materials, coordinate any MDA services you may require and assist with
community resource referrals.
Other members of the health care team include the following specializations:
cardiologists, dieticians, genetic counselors, MDA representative, neurologists nurse
case managers, orthopedists, physiatrists, physical and occupational therapists,
psychologists, pulmonologists, social workers, speech/language pathologist.
In addition to clinical services the offer support groups and education resources
to families, durable medical equipment assistance, and summer camps for
children.
Funding
Total revenue $139 M with $131 M in expenses for 2014. 350,000 volunteers raising
money for MDA including 31,000 retailers and 8,510 local events. (Funders included
in the last years funding: 9 partners donating over $1 million each, 10 partners
donating $500,000-$999,999 and 25 partners donating
$150,000-$499,999 in the past year.)
What is the source of funding and the
amount of funding over a specified
period of time? Include mechanism for
how funds are distributed (eg
accreditation, reimbursement, satellite
offices) and percentage from all funding
sources. If there is a central
coordinating body, how is it funded?
(excluding physician fees unless the
central coordinating body is the
recipient or payer of such fees)
MDA is a 501 c3 tax exempt organization.
42 MDA/ALS centers, 200 specialized clinics
200 specialized clinics across the United States and in Puerto Rico. The MDA ALS
Research and Clinical Centers and locations are at this link;
http://www.mda.org/sites/default/files/ALS_Centers_and_Clinics-05_2014.pdf
In addition, private and public insurance pay for services provided in the clinics. If a
patient has no health insurance or insurance does not cover, patients can contact
MDA to find out what services have financial assistance available.
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Regional Support Service Model Workgroup Model Review
MDA Clinics-DRAFT
Include budget when available (if not
available, include % of budget used for
services being described)
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on impact or
outcomes
Mental health services
provided
Resources
Found publication in Spanish but not Arabic, Chinese or French. No specific data on
website targeting underserved populations.
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
http://www.mda.org/careers/jobs
Telephone Consultation
Telegenetic technology
(current or planned usage)
Tech doctor visits: medical personnel are using technology to monitor and
communicate with their patients. Electronic stethoscopes, glucometers,
respirometers, pulse oximeters and vital sign sensors are among the medical devices
that can be monitored remotely by doctors and nurses.
MDA is also promoting something called Home Helpers. Caregivers go into homes to
help bathe, dress, clean, etc. System records when caregiver is on the job and leaves.
Some of the agencies monitor clients with cameras. Home Helper provides an
automated dispenser (prefilled by a licensed staffer) that chimes when it’s time to
take pills.
Is there a set of resources that the
central coordinating body makes
available to satellite centers? If so,
what are these resources?
They collect feedback about clinics service on website.
Served 100,000 in 2014. Found some personal testimonies but no specific
outcome data beyond number served.
Psychologist and social workers listed but not named in the same way that
neurology is on clinic centers.
Members of the health care team include the following specializations:
cardiologists, dieticians, genetic counselors, MDA representative, neurologists,
nurse case managers, orthopedists, physiatrists, physical and occupational
therapists, psychologists, pulmonologists, social workers, speech/language
pathologist
54
Regional Support Service Model Workgroup Model Review
NCC/RC System
Center Name: NCC/RC System
Website Address: www.nccrcg.org
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the mission
Organizational structure How is
the organization organized internally
(e.g. hub and spoke model)? Nonprofit, for profit, government agency?
The mission of the HRSA Genetics Collaboratives (RCs) and their National Coordinating Center
(NCC) is to strengthen and support the genetics and newborn screening capacity of the states,
to improve the availability, accessibility, and quality of genetic services and resources for
individuals having, or at risk for, genetic conditions and their families across the lifespan. (Jan
2013)
7 regional, 1 National Coordinating Center (which includes a National Genetics
Education and Consumer Network, since 2012)
Number and locations of
regional centers
Patients/populations served
7,900 participants in education and training sessions 2013-14; however, far more
reached in other activities (see below)
All newborns (via newborn screening)
Indicate population the center is
Individuals at risk for or affected with genetic conditions
attempting to reach (e.g. all individuals
Public health genetics
with Down Syndrome in a state) and the
Genetics professionals
actual number served (within the
Primary care providers
context of a time frame)
Services provided (e.g. direct
All are part of the scope of the regions, depending on the need of the region.
Funding
Infrastructure development (2004-2007, focus, maintenance)
• Telemedicine equipment (infrastructure and direct care)
• NBS program development/enhancement (infrastructure and direct care)
• Emergency preparedness—laboratory backup agreements/specimen
exchanges/tabletop exercises
Direct Care:
• Demonstration projects—telemedicine outreach, increasing access.
Enabling Services:
• Patient Navigators (MSGRC)
• Care Coordination Training (R4, Heartland)
International/national population reach:
• R4S-STORK Project (population-based)
• IBEM-IC (population and direct service)
d year lfor
b 2 years ending May
d 31, 2017):
NCC and NGECN funding (each
care, enabling infrastructure building,
population based)
What is the source of funding and the
amount of funding over a specified
period of time? Include mechanism for
how funds are distributed (eg
accreditation, reimbursement, satellite
offices) and percentage from all funding
sources. If there is a central
coordinating body, how is it funded?
(excluding physician fees unless the
central coordinating body is the
recipient or payer of such fees) Include
budget when available (if not available,
• $500,000 NCC
• $300,000 NGECN
RC Funding (5 years, ending May 31, 2016):
• $600,000 each/per year ($4.2 million/year)
These are competitive grants (RC) that were last competed in 2012 for a five-year award
period.
NCC, is a central coordinating entity, funded through a cooperative agreement for 2 years
(last competed 2015).
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Regional Support Service Model Workgroup Model Review
NCC/RC System
include % of budget used for
services being described)
How do they reach
underserved populations (if
they do)?
All are funded through the federal government, Health Resources and Services
Administration.
All Individuals at risk for or affected with genetic disorders:
Demonstration projects
Educational programs
Public Awareness Campaigns
Social media
Population-based services
Advocacy
• NGECN outreach education
• NGECN supports expansion projects
• Consumer outreach and advocacy
• NEGC Policy brief—being adapted by other RCs
Partnership building:
• Engaged with LEND and other broader CSHCN populations
• AAP
• Family Voices
Specific underserved individuals with genetic conditions:
Demonstration projects
• Hispanic Access Project
• Hemoglobinopathies
• Translation of materials into other languages
• CPT1a brochures and videos
Outreach to Native Americans
Inclusion of representatives of underserved populations on advisory councils, workgroups,
projects, and as project leads. Support participation at ACMG and other meetings.
Cross-border challenges
(licensure, etc)
GC Licensure—20, with 15 issuing licenses, and 5 have bills passed, and in rule making
Telemedicine
Workforce:
• Medical care in rare subspecialties with patients in states with no providers, having
to travel.
Impact
National evaluation system-wide evaluation:
• Each RC and NCC have paid evaluators that form the national workgroup that has
created common measures
• National report
• Regional reports (each RC)
Year 2 evaluation
report: http://www.nccrcg.org/docs/NCC/Evaluation/Products/HRSA_Evaluation_brief_2013_2014.pdf
Mental health services
provided
Resources
Demonstration projects, advocacy, and partnership. No
direct services
Yes, anything created by any of the RCs (durable products) is made available to all
grantees.
How do you measure the impact
and/or success of your services?
Please share any data you have on
impact or outcomes.
Is there a set of resources that the
central coordinating body makes
available to satellite centers? If so,
what are these resources?
Surveys, educational materials, white papers, project reports, etc.
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Regional Support Service Model Workgroup Model Review
NCC/RC System
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing issues,
who is a part of the team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
Other
Competitive grant/cooperative agreement to be RC or NCC
Recruitment strategies and meetings are open and public. All stakeholders are
recruited actively. Social media used to disseminate information and resources.
Small paid staff for NCC and each RC, majority of work of the system is done by
professional and consumer volunteers.
Major focus of NCC and several RCs.
Education:
• Heartland and Western States telemedicine training project
Demonstration Projects:
• Heartland Telegenetics manual
• Cross-border and rural outreach projects
• Other RCs have profited from early leadership of Heartland RC and now have
projects and programs.
Public Awareness Campaigns
• CPT1a brochures and videos
• Translation of materials into other languages
57
Regional Support Service Model Workgroup Model Review
NDSS and DS Specialty Clinics
Center Name: NDSS and DS Specialty Clinics
Website Address:
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
NDSS - to be the national advocate for the value, acceptance and inclusion of people with
Down syndrome.
Clinics – provide complete care for persons with DS (based on 15 of 62 clinics), but
varies from clinic to clinic.
Contact:
National Down Syndrome Society, Headquarters
666 Broadway
8th Floor
New York, NY 10012
NDSS National Policy Center
1602 L Street NW
Suite 925
Washington, DC 20036
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)?
Telephone: 800-221-4602
Fax: 212-979-2873
Email: [email protected]
NDSS established as Delaware non-profit in 1979. Team includes Staff, Board of
Directors, and Ambassadors. Has 4 areas of programming:
1. Policy through legislative advocacy
2. Buddy Walk
3. Public awareness
4. Community support
NDSS – national organization; support 375 local affiliates across the nations. Not entirely clear,
but seems that NDSS provides education and educational resources to affiliates but they
otherwise operate independently. Waiting for call backs from several people at NDSS.
Clinics – appear to affiliated with universities or large hospital/health systems; some are
stand-alone entities.
Number and locations of
regional centers
NDSS - Main office in NY. 375 US affiliate locations across the US. Additional affiliates
outside the US as well.
Clinics -There are 60+ Down Syndrome Specialty Clinics (map).
NEGC has 6. NYMAC has
9. Southeast has 9.
Region 4 has 17.
Heartland has 9.
Mountain States has 7.
Western States has 9.
All information included in this database was provided by the institutions themselves
through a survey conducted by NDSS.
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Regional Support Service Model Workgroup Model Review
NDSS and DS Specialty Clinics
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served.
Services provided (eg direct
care, enabling infrastructure
building, population based)
Funding
What is the source of funding
and for what amount?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices)
If there is a central
coordinating body, how is it
funded? (excluding physician
fees unless the central
coordinating body is the
recipient or payer of such fees)
Include budget when
available
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Data
What data is being collected by
the center to indicate the
magnitude and types of
services provided? Is the data
collected to improve health
outcomes?
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to
NDSS - Persons with Down Syndrome and their families, caregivers, healthcare
providers, and anyone else that is interested in advocating for persons with DS.
Clinics – varies from clinic to clinic. Some appear to serve particular cities or states, others
are multi-state/regional
Persons with DS: >400K in US and >6million world-wide (mathematically estimated). Appears
that all races, ethnicities, socioeconomic classes, etc, are affected at the same rate of ~1:700
live births. Abortion rates estimated at 65-90% of prenatally diagnosed cases.
NDSS – education and support and advocacy
Clinics – varies; direct medical care, family support seem to be most common
NDSS – Appears to be largely funded by donation and fund raising. Total budget of about
4million/year. Approx ¼ goes to salaries. Remaining budget supports advocacy in one
manner or another.
- Works with NICHD on DSConnect project, but does not seem to get any funding from
NICHD to do so.
-not clear if NDSS provides any financial support to local affiliates, but if they do, it is
not ubiquitous.
Clinics - Unable to get this information. Some appear to be non-profit organizations and
some appear to be for-profit organizations. It does not appear that clinics have any
financial responsibility to NDSS or any local affiliates of NDSS.
NDSS views persons with DS as an underserved population. Most of their efforts are focused
on advocating for this particular population.
- Advertisement, social media, one clinic reported using telemedicine
DS-Connect – variety of medical history/medical utilization data/ YES
Registry of affiliates/ NO
Registry of clinic/ YES
NDSS – resources to find providers
Clinics – some yes and others no
Educational materials and information; link to DS-Connect global registry; information in
Spanish
NDSS has national reputation that local affiliates (parent groups) can use to will local support
for events like the Buddy Walk (walk to raise awareness for persons with DS;
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Regional Support Service Model Workgroup Model Review
NDSS and DS Specialty Clinics
satellite centers? If so, what
are these resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
typically the biggest fund-raiser of the year for local affiliates and a major contributor to the
NDSS budget).
Affiliate organizations – left message, have not heard back
Clinics – provide information to the NDSS Clinical Advisory Board. It does not appear there is
any vetting of participants
“If you represent a clinic and do not see your institution listed here, please contact
NDSS Director of Programs & Community Outreach Vanessa Quick at
[email protected]”- Contacted by Karen waiting on response.
Parent groups:
For information on how to become an NDSS affiliate, call our helpline at 800-2214602 or email info@ndss org
60
Regional Support Service Model Workgroup Model Review
Seattle Children’s
Center Name: Seattle Children’s
Website Address: http://www.seattlechildren’s.org
Mission and Contact Information (if available) Includes
specific services that the agency engages in to address
the mission
Organizational structure How is the organization
organized internally (eg hub and spoke model)?
Number and locations of regional centers
Patients/populations served
Indicate population the center is attempting to reach
(eg all individuals with Down Syndrome in a state) and
the actual number served.
Services provided (eg direct care, enabling
infrastructure building, population based)
Funding
What is the source of funding and for what
amount? Include mechanism for how funds are
distributed (eg accreditation, reimbursement,
satellite offices)
If there is a central coordinating body, how is it
funded? (excluding physician fees unless the central
coordinating body is the recipient or payer of such
fees)
Include budget when available
How do they reach underserved populations (if
they do)?
Seattle Childrens Hospital Genetics Program (SCH Genetics)
provides community-based genetic evaluation, diagnosis,
counseling, referral and educational services.
SCH Genetics contracts with WA DOH to provide
• Biochemcial Genetic Consultation services to the state
Newborn Screening program
• Genetic Consultation services at various sites across
Washington State
• Genetic Consultation services to St. Luke’s Regional
Medical Center Idaho
34 on-site genetic clinics per calendar year for the following
sites:
1- Kadlec Regional Medical Center
2- Yakima Valley Memorial Hospital/Children’s Village
(Yakima)
3- Central Washington Genetics program (Wenatchee)
24 + on-site genetic clinics per calendar year on site at St.
Luke’s Regional Medical Center, Idaho
Pediatric patients with possible genetics conditions
1- Genetic evaluation
2- Counseling
3- Nutrition Assessments and Care Plans
4- Diagnostic testing and review
5- Educational services
• BioChemical Genetic Consultation services to the state DOH
Newborn Screening program:
o $50,000
• Genetic Consultation services at various sites across
Washington State
• This contract is supported by state and federal funds.
o Federal: $51,000
o State
:$51,000
o Total
:$102,000
o SCH Genetics submits invoices to DOH and DOH issues
payment within 30 days of receiving correct and complete
invoice.
•Genetic Consultation services to St. Luke’s Regional Medical
Center, Idaho
• Annual service fee of $131,950 + travel and lodging expenses
• SCH Genetics invoices quarterly
Clinics are located around the state to reach more children.
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Regional Support Service Model Workgroup Model Review
Seattle Children’s
Cross-border challenges (licensure, etc)
Data
What data are being collected by the center to
indicate the magnitude and types of services
provided? Is the data collected to improve health
outcomes?
Idaho state Medical License, DEA, State Medicaid programs
Data is collected on:
• Number of clinics each month by location
• Number of patients per clinic
• Reason for referral
• Confirmed diagnoses
• Number of nutritional plans developed
• Any issues and comments
Mental health services provided
Resources
Is there a set of resources that the central
coordinating body makes available to satellite
centers? If so, what are these resources?
How does an entity (clinic, provider, etc) become a part
of the system? (application, evaluation process, etc)
N/A
No.
Idaho State License (St. Luke’s contract)
Idaho Medicaid and Idaho federal health care benefit programs
(St. Luke’s contract)
Medical Staff Membership and credentialing at various hospitals
(Idaho and Washington)
Staffing (are there staffing issues, who is a part of the
team)
Medical Geneticists from SCH
Genetic Counselors on each site
SCH Dieticians
Telephone Consultation
Telegenetic technology (current or planned usage)
N/A
Please list any gaps/barriers
that you (as the reviewer) have
identified through the review
process:
For Idaho, model provides limited access for Idaho families to clinical genetic services in Idaho.
Families that cannot get one of the limited clinic slots would have to leave the state to get
services. There is no planning to secure permanent genetic services within the state.
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Regional Support Service Model Workgroup Model Review
Telehealth Resource Center
Center Name: Telehealth Resource Center
Website Address: http://www.telehealthresourcecenter.org/
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
Telehealth Resource Centers were established to provide assistance, education and
information to organizations and individuals who are providing, or are interested in
providing, distant medical care. Their charter from the Office for Advancement of Telehealth,
part of HRSA, is to assist in expanding of the availability of health care to underserved
populations, using telemedicine.
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
Number and locations of
regional centers
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
Services provided (eg direct
care, enabling infrastructure
building, population based)
There are 14 TRCs comprised of twelve Regional Centers, which have regional focus and two
National Centers, which deal with areas of technology assessment and Telehealth policy.
There is also a National School of Applied Telehealth.
Funding
What is the source of funding
and the amount of funding over
a specified period of time?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices) and percentage
from all funding sources.
TRCs are funded by the U.S. Department of Health and Human Services’ Health
Resources and Services Administration (HRSA) Office for the Advancement of Telehealth,
which is part of the Office of Rural Health Policy.
See above
Their mission is to assist in expanding of the availability of health care to underserved
populations, using telemedicine. Most telemedicine is rural
Consultation with a wide range of healthcare providers, health systems, public health
systems to help them develop and implement telemedicine programs. Disseminate best
practices information, model forms, webinars regarding “success stories” in different
regions.
There are Telehealth Implementation Workgroups “designed to create a supportive
environment where clinics at all levels of implementation status can: participate in project
planning exercises; share and receive ideas and best practices with other clinics in the
region; and receive assistance with roadblocks encountered while implementing and
integrating a telehealth program”
The National School of Applied Telehealth has created an on line educational
curriculum leading to certifications for individuals as Certified Telemedicine Presenter,
Certified Telemedicine Liaison, Certified Telemedicine Coordinator
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Regional Support Service Model Workgroup Model Review
Telehealth Resource Center
If there is a central coordinating
body, how is it funded?
(excluding physician fees unless
the central coordinating body is
the recipient or payer of such
fees)
Include budget when
available (if not available, include
% of budget used for services
being described)
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on impact or
outcomes
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
See above
TRC’s do not provide clinical care services
TRC’s do not provide clinical services
See above section “Services Provided”
Formally established at the outset of the funding
Lean, primarily grant funded operations
Yes
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Regional Support Service Model Workgroup Model Review
East Anglia Regional Genetics Service (a unit of UK Clinical Genetic Services)
Center Name: East Anglia Regional Genetics Service (a unit of UK Clinical Genetic Services)
Website Address:
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
Number and locations of
regional centers
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
Services provided (eg direct
care, enabling infrastructure
building, population based)
Funding
What is the source of funding
and the amount of funding over
a specified period of time?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices) and percentage
from all funding sources.
If there is a central
coordinating body, how is it
funded? (excluding physician
fees unless the central
coordinating body is the
The primary mission of the East Anglia Regional Genetics Service is to provide
comprehensive genetic services to the East Anglia Population of England (about 2.5 million
people). The center supports research and teaching as secondary missions (about 10% of
effort).
Contact: Eamonn Maher, Head, Cambridge University Department of Medical
Genetics
23 regional genetic centers cover all of the UK (England 17; Northern Ireland 1, Scotland 4,
Wales 1). Each center is organized as hub and spoke, with the hub an academic center,
often a university. Spokes are outreach clinics in hospitals within the region. Centers
include clinical facilities and genetics labs; centers are similar in focus and services except for
expertise of individual clinicians, services offered by labs. All labs do common genetic tests
(BRCA, CF, HD) but only 1-2 labs may offer rarer tests. Labs organized through UK Genetic
Testing Network; labs apply to offer tests, if approved, are funded.
See above
Mission is to serve the entire population of the 4 countries of the UK. There are
private genetics providers and labs, but they serve a very limited part of the UK
population.
The role of the geneticist in UK is to make the diagnosis, interpret genetic tests. Genetic
counselors work with physicians, provide overlapping services but with less autonomy than
in US. Genetic counselor may provide some enabling services, although not part of formal
job responsibilities. Geneticists do not provide long term care to patients (eg metabolic
patients identified by newborn screening are cared for by metabolic pediatricians). These
centers are not involved with newborn screening, which is overseen by a separate system in
the UK
Genetic centers are funded through the UK National Health Service, with funds paid to the
hospital to support the Genetics Center. In UK, patients do not access genetic services
directly; GP is the gate-keeper. If the genetics clinician determines that
testing is needed (following national guidelines), testing is free to the patient and
family. Hospitals such as Cambridge (where the East Anglia Regional Genetics Service is
located) have contracts to provide services according to national requirements for waiting
times (maximum of 18 weeks). Hospitals (and services within them) are expected to stay
within budget. There are periodic audits.
Most of the 23 regional centers are affiliated with an academic center/university. The
universities are funded separately from the regional centers, but some clinicians are funded by
both. In Cambridge, all genetics providers do clinical work, but some do not do academic
work (supported entirely by the genetics center). In Cambridge, the academic offices are colocated with the NHS supported East Anglia Regional Genetics Service and lab.
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Regional Support Service Model Workgroup Model Review
East Anglia Regional Genetics Service (a unit of UK Clinical Genetic Services)
recipient or payer of such
fees)
Include budget when available
(if not available, include % of
budget used for services being
described)
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on impact or
outcomes
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
Telephone Consultation
Telegenetic technology
(current or planned usage)
Patients who live far from Cambridge (up to 60 miles) are served by outreach clinics. There are
no financial barriers to receiving medical services, since if GP refers, NHS pays for services.
However, other costs may be an issue for some patients (who may apply for funding to defray
these costs), and cultural and language barriers may also be issues. There are no social media
or PSA campaigns, since clinicians are prohibited by law from advertising in UK.
These are very infrequent. If a lab test is only done in another region, a committee of the
hospital may review the request. If out of country, clinician must justify. There are no legal
barriers (licensing, etc.)
Periodic reports are submitted with number of patients seen, number of clinicians, other
broad categories. Centers are compared to each other by these statistics.
For HD predictive testing, the service includes a psychiatrist. Otherwise, if the
genetics clinician is concerned about mental health issues, a referral is made.
Educational resources, guidelines are generally developed by regional units and
shared with each other, not imposed at the national level. Some regional centers with
common issues meet together periodically.
There has been no new center for many years. If someone wanted to form another center,
he/she would have to discuss with existing center, justify need. There does not seem to be
a formal mechanism for this.
Demand is always greater than supply, and referrals have been increasing steadily. There is
pressure to meet the 18 week target. Extra clinics are sometimes added to meet demand.
Cambridge now has 11-12 clinical consultants, somewhat fewer genetic counselors. Job
terms for the genetics clinicians: half day of clinic matched with half day of preparation and
note writing. Genomics will increase the demand, but there is no plan to increase the number
of genetics clinicians. Plan: other specialists (eg cardiology, nephrology) will learn to interpret
genetic/genomic tests, consult with geneticist as needed.
Telemedicine/telegenetics is not used or planned. Telephone consultations are done,
sometimes to address long waiting times for face to face consultations.
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Regional Support Service Model Workgroup Model Review
Veteran’s Administration Genomic Medicine Service (Telegenomics Program)
Center Name: Veteran’s Administration Genomic Medicine Service (Telegenomics Program)
Website Address: http://www.telehealth.va.gov/
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
For the purposes of VA health benefits and services, a person who served in the
active military service and who was discharged or released under conditions other
than dishonorable is a Veteran.
VA Telehealth Services uses health informatics, disease management and
telehealth technologies to target care and case management to improve access
to care, improving the health of veterans. Telehealth changes the location where
health care services are routinely provided.
From the VA Genomic Medicine Program Advisory Committee:
Goal of using genetic information to optimize clinical care of veterans, and
enhance the study and development of diagnostic tests and treatments for
diseases of particular relevance to veterans.
Contact: Vickie Venne ([email protected] - 801.582.1565 x2195)
Organizational structure
How is the organization
organized internally (eg hub
and spoke model)? Nonprofit, for profit, government
agency?
Number and locations of
regional centers
Federal government agency using hub and spoke model.
Telegenetics is based at the Salt Lake City, UT VA center and covers 21/22
Veteran’s Integrated Service Networks (VISN) across the country including
Guam, Guam, Puerto Rico, American Virgin Islands, and the Philippines. VISN
22 (Southern CA and Southern NV) is covered by clinical geneticist, Maren
Scheuner, based in the Los Angeles VA center.
Utah VA Telegenomics Program has seven full time genetic counselors. Clinical
geneticist on site for consultations with genetic counselors.
Los Angeles VA Center has one full time geneticist.
Started in June 2011 and have MOAs with 65 facilities and community based clinics
to provide telegenetics consultation from Utah Center. VA network has
153 VA medical centers (VAMC) and over 700 community-based out-patient clinics.
124/153 VAMCs are affiliated with an academic medical center.
The VAMCs and out-patient clinics have varied telehealth equipment set-ups.
Patients/populations served
Indicate population the center is
attempting to reach (eg all
individuals with Down Syndrome
in a state) and the actual
number served (within the
context of a time frame)
Over 8 million veterans are signed up to receive care through the VA for a broad
range of services.
Utah Center
50-60 referrals per day (From 2011-2014, about 5000 patients referred)
58 appointments slots per week. Each slot is for 90 minutes. Each
GC sees 3-4 appointments per day.
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Regional Support Service Model Workgroup Model Review
Veteran’s Administration Genomic Medicine Service (Telegenomics Program)
Since it’s the VA, mostly adult patients with adult disease referral. Some genetic
counseling for parents that have a child with a genetic disorder. Some prenatal
patients coming through due to family or pregnancy history.
Have a telegenetics preconceptual clinic that is held once per month. Talks about
teratogens, carrier screening, family history, other risk factors.
Services provided (eg direct
care, enabling infrastructure
building, population based)
Funding
What is the source of funding
and the amount of funding over
a specified period of time?
Include mechanism for how
funds are distributed (eg
accreditation, reimbursement,
satellite offices) and percentage
from all funding sources.
If there is a central coordinating
body, how is it funded?
(excluding physician fees unless
the central coordinating body is
the recipient or payer of such
fees)
Include budget when
available (if not available, include
% of budget used for services
being described)
Genetic counseling.
Recommendations for testing.
How do they reach
underserved populations (if
they do)?
Cross-border challenges
(licensure, etc)
Impact
How do you measure the
impact and/or success of your
services? Please share any data
you have on impact or
outcomes
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
VA wants 50% of all healthcare visits to be done by telehealth by 2020.
Federal VA system.
2016 VA Budget Request of $55 million for telehealth in the VA not including
telecommunications funding which is a separate line item.
N/A.
Track number and type of referrals. Track
workload based on CPT codes.
Track savings based on appropriate testing identified or unnecessary testing not
being done.
Referral to appropriate VA services as necessary.
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Regional Support Service Model Workgroup Model Review
Veteran’s Administration Genomic Medicine Service (Telegenomics Program)
How does an entity (clinic,
provider, etc) become a part of
the system? (application,
evaluation process, etc)
Staffing (are there staffing
issues, who is a part of the
team)
VAMC or outreach clinic signs MOA with VA Telegenomics Program.
Telephone Consultation
Telegenetic technology
(current or planned usage)
Services are exclusively done using telehealth methods.
Please list any gaps/barriers
that you (as the reviewer) have
identified through the review
process:
Easier to have all genetic counselors based in one center for supervision,
support, and education.
Centralized appointment calendar using Sharepoint is used.
Charting in EMR is required within 24 hours of seeing patient.
• Only available to eligible veterans.
• Does not provide 24/7 coverage to account for time zones and work
schedules.
• Funding supported entirely by federal government.
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Regional Support Service Model Workgroup Model Review
WA State Department of Health: Regional Genetics Clinics
Center Name: WA State Department of Health: Regional Genetics Clinics Website Address:
http://www.doh.wa.gov/YouandYourFamily/InfantsChildrenandTeens/HealthandSafety/GeneticServices
Mission and Contact
Information (if available) Includes
specific services that the agency
engages in to address the
mission
DOH Mission: To protect and improve the health of Washington residents.
Organizational structure How
is the organization organized
internally (e.g. hub and spoke
model)?
Number and locations of
regional centers
Patients/populations served
Indicate population the center is
attempting to reach (e.g. all
individuals with Down Syndrome
in a state) and the actual
number served
Services provided (e.g.
direct care, enabling
infrastructure building,
population based)
Regional Genetics Clinics (defined as any entity that employs or contracts with an ABMG or
ABGC geneticist or genetic counselor) throughout the state receive varied levels of support
from the DOH Screening and Genetics Unit, (see services provide) but they are all
independent of the state agency.
As of 9-25-15, there are 53 clinic sites statewide.
Funding
What is the source of funding
and for what amount?
Include mechanism for how
funds are distributed (e.g.
accreditation, reimbursement,
satellite offices)
If there is a central
coordinating body, how is it
funded? (excluding physician
fees unless the central
coordinating body is the
The Screening and Genetics Unit does this by:
• early identification of individuals with, or at risk, of genetic disease;
• improving the healthcare delivery system to serve these individuals, and
• connecting them with the health resources, they need.
All residents, as well as residents of bordering states (i.e., Oregon and Idaho). Clinics are
encouraged to take all referrals including self-referrals. Clinics in Eastern WA with whom
we hold contracts, must accept all referrals.
DOH provides financial support for Medical Geneticists from Seattle Children’s Hospital and
Mary Bridge Children’s Health Center to travel to more suburban and rural areas. In addition,
we provide financial support to three facilities in Eastern WA to help support local genetic
counseling services. In addition, we pay the general fund state dollars required to leverage the
federal dollars when facilities bill Medicaid for genetic counseling. We pay for the annual
subscriptions to TERIS for all prenatal facilities. We send monthly eblasts to all genetic service
providers regarding various news, announcements and job openings. We also host an annual
full day meeting
with CEUs to provide for continuing education and networking. For the annual meeting, we
pay all travel costs for genetic service providers attending from outside of the King County
(Seattle) area. DOH program staff also develops genetics
educational materials for use by general practitioners and consumers and maintain
multiple pages on the DOH website. The most frequented pages are the RGC locations and
d d land
l Genetics
d Unit funds are a blend of federal (HRSA Maternal and
The Screening
Child Health Block Grant) and General-fund State dollars.
DOH staff ~$200,000/yr.
TERIS subscriptions $5,000/yr.
Medicaid match for genetic counseling $20,000/yr.
Medical Geneticists outreach $120,000/yr. (40 outreach days at varied sites) TriCities/Yakima/Spokane contracts ~$150,000/yr.
Annual meeting (including travel) $4,500
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Regional Support Service Model Workgroup Model Review
WA State Department of Health: Regional Genetics Clinics
recipient or payer of such
fees)
Include budget when
available
How do they reach
underserved populations (if
they do)?
Require contractors to accept all referrals, encourage all to do so. We evaluate annually by
comparing race/ethnicity demographics of state population with the same demographics
provided by clinics of patients they have served. (Aggregate non- identifiable service utilization
data are collected annually and requested from all clinics).
Cross-border challenges
(licensure, etc.)
About 30% of Spokane clinics patient population comes from Idaho but Idaho provides no
compensation for these clients. WA does pay OR providers for Medicaid clients as long as the
genetic counselors are registered/licensed in WA State.
Data
The Council of Regional Genetic Clinics (CORN) Minimum Data Set (originally developed
What data are being collected by ~1991) that has been modified over the years by WA genetic service providers using a
the center to indicate the
consensus process. These are aggregate unlinked service utilization data. Forms available
magnitude and types of services upon request. Data are collected to monitor trends
provided? Are the data collected and are used in a funding formula to determine funding levels for eligible clinics. DOH as a
whole, collects other data that are used in looking at health outcomes (e.g., Birth events
to improve health outcomes?
record database, Behavioral Risk Factor Surveillance System, PRAMS, CHARS, etc.)
Mental health services
provided
Resources
Is there a set of resources that
the central coordinating body
makes available to satellite
centers? If so, what are these
resources?
How does an entity (clinic,
provider, etc.) become a part of
the system? (Application,
evaluation process, etc.)
Staffing (are there staffing
issues, who is a part of the
team)
No, although genetic service providers in RGCs may refer to mental health providers within
their own institution or within their community.
No – see services provided
Any facility that employs or contracts with an ABMG or ABGC clinician is considered a Regional
Genetics Clinic and we will list them on our website and include them in our monthly eblasts.
Any clinics that want additional funding must formally make a request to DOH, must have
some level of institutional support and must document the need.
1.0 FTE State Genetics Coordinator (supports the RGCs and serves as liaison to multiple
programs within the agency including CSHCN, Breast. Cervical and Colon Health
Program, Family Planning, Newborn Screening, and Birth Defects Surveillance)
1.0 FTE Genetic Services Specialist – assists the State Genetics Coordinator
(Vacant for 6 months due to difficulty recruiting/filling position)
1.0 FTE Secretary Senior
71
Appendix E: Findings and Themes from Center Reviews
Presented at the 2015 NCC/RC Project Director/Project Manager Annual Meeting
Findings
Organizational Structures
Central organization with regional centers; single hub and spoke; DOH administrative office with grant
funded state activities; DOH administration with contracted out of state providers; collaborative
program including state, medical school, major clinical facility; 501 c3 corporation with clinic support
based on set criteria; 501 c3 corporation with support for advocacy
Budgets
$500,000/year to $144M/year or more
Populations Served
Individuals in 4 countries (UK) to individuals with rare diseases (CF)
Services Provided
Clinical service only to advocacy only. Many centers provide a variety of services, also including
education, research, patient registries, database support, enabling services, population based services
Cross-border Challenges
An issue for only some centers (NCC/RC; not CF)
Use of Telemedicine
Very uncommon
Measures of Impact
Simply counting encounters to sophisticated database that is supported by Center funds
Staffing
Generally considered insufficient
Themes
•
•
•
•
•
•
•
•
•
•
•
Most budgets are far higher than NCC/RC system has received historically
Paid staff is essential for significant data collection
State can play a very significant role in solving “missing geneticist” problem
Collaborative model can be very effective in solving the above (state, large hospital, medical
school)
Support to outreach clinics can vary widely, depending on specific needs of different parts of
state/region
Advocacy alone can easily use a multi-million dollar annual budget
Regional collaboration structured by a central coordinating office can facilitate sharing of
resources, uptake of successful demonstration projects
Volunteerism can keep budgets low, but there is risk of sustainability
Desired activities (data collection, adherence to guidelines) can be enhanced by methods of
clinic funding from the central entity
Patient registries and robust databases pay dividends
Genetics and primary care workforce issues are real; limiting the expected role of the geneticist
can potentially resolve some of this
72
Appendix F: Potential Measures for the Proposed RSSM WG Models as Discussed by the NCC Evaluation Workgroup
NOTE: This list is complementary to the outcome measures described in the tables of the brief report.
Guiding Principles for Measuring the Impact of Regional Models
• Obtain baseline data so that the impact of the models can be measured later.
• Increase use of outcome measures to complement process measures.
• Disseminate findings and case study models showing best practices/evidence base.
• Facilitate expansion or adaptation of models and best practices inter-regionally.
Caveat: Data collection requires a considerable investment of resources. While there is consensus that
impact/outcome measures are important to capture, there are currently no population-based data sets on people
with genetic conditions or unmet genetic service needs by which the regional models can be assessed. Because of
the lack of existing national outcome measures related to access to genetic services, the Evaluation Workgroup
recommended that GSB convene a workgroup of genetics clinicians, program evaluators and implementation
scientists to begin the process of identifying such measures.
Model 1 Regional Genetic Resource Networks
Subject/Intervention
Potential Measures
Assessing Collaborative Activity
Central Coordinating Body1
Resource Center Materials
Type of stakeholders
Types of engagement by type
of stakeholders
Degree to which stated aims
were met
Bi-directional exchanges with
organizations
Stakeholder engagement
Benefits/Disadvantages to
stakeholders in participating
Satisfaction
Degree to which stated aims
were met
# and type of informational
products developed
# and type of materials
disseminated
# products developed
collaboratively
Uses of materials
Audiences reached
Outcomes of product use (e.g.
knowledge gained through
pre/post intervention surveys)
Satisfaction
Methods
Working Together
Survey or other
engagement
survey
Sample
Respondents
Consumers
Providers
National partners
3600 Review
Regional centers
HRSA
National partners
Establish a set of
common data
elements
Families
Providers
HRSA
National partners
73
Model 2 Regional Clinical Support Centers
Telemedicine Training
# of professionals/ providers
trained by discipline
# of trainees who deliver
genetic services
Participants’ perceived
outcomes of training (e.g.
behavior change, knowledge
gained; use of new skills)
Telemedicine Sites
Care Coordination
# of sites offering genetic
services
# of clinicians delivering
services
Service model (e.g. medical
geneticist consult, genetic
counseling consult,
nutritionist consult, other)
Visit characteristics and
outcomes (initial visits;
follow-up visits; disposition,
referral source, etc.)
Patients’ perceived outcomes
of visit (e.g. knowledge
gained, improved emotional
status)
Description of components of
care coordination provided
(e.g. sharing medical records,
primary and specialty care
coordination, assistance with
scheduling, assistance with
insurance)
Patient/Family perceptions;
satisfaction
Establish a set of
common data
elements for use in
training programs
building on the
work already done
by the Heartland/
Western States RC
telemedicine
training programs
Count of sites
Trainees
CSHCN National
Survey, CAHPS,
MCHB Child Health
Survey
Medical record
review,
Billing data review
Families
Providers
Administrative
billing records,
Medical records
Build on the Region
4 Midwest Care
Coordination
measures
Model 3 Regional Genetics Education and Technical Assistance Centers
Education
#, type and content of
Establish a set of
education sessions
common data
elements
# by types of participants
Evaluation of session by
participants
Trainees’ perceived outcomes
of training (e.g. knowledge
gained, planned change in
behavior; actions taken)
Linkages with LEND
# of LEND trainees doing
genetics projects
Establish a set of
common data
elements
Providers
Patients
Providers/
Professionals
Local/ Community
partners
Title V
Other state
agencies/ partners
Inter/IntraRegional
National
LEND trainees
74
Model 4 Regional Patient Engagement Centers
Technical Assistance
Types of TA needed are
identified
Amount of TA delivered
Satisfaction
Perceived outcomes of TA
(e.g. knowledge gained,
planned change in behavior;
actions taken)
Establish a set of
common data
elements
Providers/
Professionals
Local/ Community
partners
Title V
Other state
agencies/ partners
Inter/IntraRegional
National
# of new consumers engaged
# of family leaders
types of consumer activities
Perceived outcomes of TA
(e.g. knowledge gained,
planned change in behavior;
actions taken)
# of joint projects
Establish a set of
common data
elements
Consumers
Establish a set of
common data
elements
Consumers
# of genetic coordinators
Organizational placement
Budgets/sources of funds
Track outcomes related to
core public health Functions
of assessment, assurance, and
policy
Linkages with other State
programs
State Health Depts.
Establish a set of
common data
elements
Model 6 Quality Improvement
Depends on the topic(s) chosen
Current state of affairs
Participants in QI
Depends on the topic(s) chosen
Changes
Baseline
assessment
Periodic
assessments
Consumer
Linkages with national orgs, e.g.,
Family Voices
Model 5 Public Health
State genetics capacity
Participants in QI
75
Model 7 Regional Clinical Support Network
Clinics
# of sites that receive funds
Visit characteristics (initial vs. followup, referral source, diagnostic or
treatment, etc.)
Patients
# of new patients
# of patients continuing in care
Waiting time for new patient nonemergency appointments
Patient characteristics (demographic,
by diagnosis, duration of diagnostic
odyssey etc.)
Patients’ perceived outcomes of
service; functioning, quality of life
Services Delivered
# of family health histories
# patient visits
# NBS follow-up visits
Medical genetics, genetic counseling,
diagnosis, treatment, verbal
counseling, physical examination,
ongoing treatment, disposition and
referral outcomes
Clinical outcomes for specific
diagnoses
Ratio of primary care to specialty
care visits
Model 8 Genetic Service Data Centers
National data
Environmental scan of genetics
Assess
data available
current data
resources
Plan data collection to fill in the
gaps
National data
National data
Access
Health insurance
Care coordination
Transition
Use of telemedicine
Access
Health insurance
Care coordination
Transition
Use of telemedicine
Baseline
assessment
Periodic
assessments
Funded clinics
Funded clinics
Sources:
CDC
HRSA
NIH
AHRQ
Resources:
PRAMS,
CSHCN Survey, State
NBS, Mortality,
Insurance, Consumer
Assessment of
HealthCare Providers
and Systems-CAHPS
Patients
Providers
FQHCs
Patients
Providers
FQHCs
76