Regional Genetic Service Center Models Recommendation Brief · 2019-08-23 · Regional Genetic . Service Center Models . Recommendation Brief . st. March 31 , 2016 . Cooperative

Regional Genetic Service Center Models

Recommendation Brief

March 31st, 2016

Cooperative Agreement: #U22MC24100

Table of Contents

Executive Summary 1 Introduction 2 Background 4

Identification of Needs 4 Identification of Priorities 4 Review of Regional Centers Serving Individuals with Various Genetic Disorders 5 Center Models 5

Recommendations 15 Recommendation 1: Genetic Services Support Center Model 15 Recommendation 2: Regionalized Structure for Future Programs 17 Recommendation 3: Central Coordination Provides a Key Function 17 Recommendation 4: Function of Genetic Services Support Centers within the Healthcare Delivery System and the Role of Public Health

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Recommendation 5: Provision of Non-Genetics Provider Education 18 Recommendation 6: Data Collection 19 Recommendation 7: Address lack of mental health services for individuals and families affected by or at risk for genetic disorders

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Recommendation 8: Support for increasing the number of physicians geneticists, genetic counselors and other highly-specialized providers for treatment of genetic disorders

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Conclusion 19

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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 16

Appendix A: Regional Support Service Model Workgroup and Advisory Committee Membership 21 Appendix B: “Bucketed” Needs Developed at the 2014 NCC/RC Project Director/Project Manager Annual Meeting

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Appendix C: Reference Literature 23 Appendix D: List of Centers, Review Template, and Review Findings 24 Appendix E: Findings and Themes from Center Reviews 72 Appendix F: Potential Measures for the Proposed RSSM Workgroup Models as Discussed by the NCC Evaluation Workgroup

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NCC Regional Genetic Service Center Models Recommendation Brief

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Executive Summary 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.

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Introduction 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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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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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

2. 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.

3. Efficient Practice • Enhance effectiveness of workforce through telegenetics and other service delivery models • Promote and facilitate entry into the field

4. Family Engagement Finding and providing ongoing care to underserved families and groups (broadly defined) • Underserved may include initial services • Detect health disparities

5. 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)

6. Practice Support • Authorization and reimbursement (including billing and insurance) • Contractual services • Medical Home model • National level expertise

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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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http://www.amchp.org/AboutTitleV/Documents/MCH_Pyramid_Purple.pdf%20accessed%201/27/16




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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 Description Pros Cons Priorities Addressed

Timeline/ Time

Requirements

Time to Implementation

(Access Projects)/ Initial Data collection

Outcomes

Promotion of Efficient

use of Resources

Verdict

Model 1- regional genetic service resource network

• Central coordinating body and regional centers.

• Regions work with states, providers and consumers to develop a team composed of a wide array of stakeholders

• Team approach

• Familiar structure for current HRSA regional collaboratives and other centers; would permit HRSA to build on what has been learned, using existing or similar infrastructure

• Looks at a wide range of issues/priorities

• Region could focus on what is lacking most for the region within the context of the goals of HRSA

• Training could be administered readily; fellowships could be supported as well; genetic counselor training could also be supported

• Center could be used to facilitate relationships between states, genetics providers, non-genetics providers, consumers, other existing programs

• Demonstrating national impact is achievable if common goals/objectives

• Current RCs still not widely known; use of this structure would require aggressive promotion of the system in order to improve access

• Core outcomes could be defined, but if each region uses own methodology, based on regional needs, identifying common elements to measure outcomes could be difficult. Some consistency with other HRSA programs also desirable.

• Lack of consistency in outcomes could affect funding in the long run

• Demonstrating national impact difficult if regional activities highly variable

• Work needs to be done within the healthcare delivery system to impact access

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

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 non- English speaking consumers, documented services provided to individuals not previously receiving care, increased coordination with state agencies including Title V, Medicaid, chronic disease programs

May take advantage of existing infrastruct ure Permits quick pivot to new HRSA priorities if current infrastruct ure used and already included necessary partners

Retain

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Timeline/

Time Requirements



Outcomes


use of Resources

Verdict

Model 2- regional 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.

• May address workforce capacity

• Promote efficiency

• Most ability to get data for individual sites- clinical site data

• For some payers, a national system may be ok

• Other product development possible

• May not be needed in all regions

• Limits services provided to other specialists and primary care providers

• 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

Priorities 1, 3, 4, 5, and 6

1 year for infrastructure development, assuming current regional structure and coordinating center not involved Years 1-2 – identification of key activities/priori ties Years 1-2- action plan and evaluation developed

2-3 years Improved workforce efficiency

Most ability to get data for individual sites- clinical site data

Takes advantage of existing clinical centers, supports their need for more efficient practice

Retain but not as stand- alone national model

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Timeline/

Time Requirements



Outcomes


use of Resources

Verdict

Model 3- regional genetics education and technical assistance centers

• Central coordinating body and regional centers. Serves both clinical providers and public health entities. Activities limited to administration, education, technical assistance, evaluation.

• Focus is education- development of materials, ECHO, just-in- time services, public education at right place right time

• 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

• 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

• Would have to be driven by other national organizations (AAP) to get into training programs

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 Broad reach to providers and public health

Improved genetic literacy and knowledge as demonstrated by pre and post testing and surveys

May show increased referrals to genetic centers (exacerbating workforce problem)

Maximize s impact of limited dollars Potential for broad reach


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Timeline/

Time Requirements



Outcomes


use of Resources

Verdict

Model 4- regional 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.

• Focus on the consumer

• 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)

• Difficult to address in stand-alone centers

• Outcome measures may be difficult

• Information-seeking individuals will be helped but may not reach entire population

• If workforce capacity issue isn’t addressed, an influx of people could be entered into the system without appropriate workforce

• Not addressing clinical/delivery systems; therefore doesn’t address underlying issues

May address Priorities 1, 2, 3, and 6

1 year for infrastructure development, assuming current regional structure and coordinating center not involved 1-2 years – identification of key activities/priori ties 1-2 years- action plan and evaluation developed

2-3 years 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 include access to services

Activities may overlap with Genetic Alliance, NEGCN, other national and state projects


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Timeline/

Time Requirements



Outcomes


use of Resources

Verdict

Model 5- public 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

• 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

• Structure within states can be a sustainable model

•Some states may be unwilling or unable to accept small amounts of money available through these grants

•Some states may not wish to accommodate this position within their state structures

•There needs to be a state champion for genetics beyond the coordinator

•Success is dependent on genetics coordinator being high enough in the state structure to be 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.

•Coordinator requires time to develop relationships, work with other units in the department to create/fund programs to address clinical, educational needs

Priorities 1 and 6 May address Priority 2 and other priorities dependin g on priorities of state health departme nts, needs identified, HRSA priorities

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: 3- 4 years

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

Would take advantage of state resources in those states receptive to this model States vary greatly in current commitm ent to genetic services; this would need to be taken into account when funding decisions made

Retain but not as a stand- alone model

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Timeline/

Time Requirements



Outcomes


use of Resources

Verdict

Model 6- quality improve ment

Central coordinating body and regional centers.

• Validated method, evaluation built in, outcomes reportable.

• Could put almost any

• Higher cost • Would require a

planning phase, lag likely in getting to data

Priorities 1 and 6 Priorities

1 year for infrastructure development, assuming

4 years (per PDSA cycle)* *Because standard

Demonstration of effectiveness of specific QI initiatives related

Would require developme nt and

Used in conjunction with another

model Data collection activity around access into collection (identify would current quality measures to access, assumingimplementa model. and grant activities focused

a pdsa. (pre-data collection, QI effort would

methodology first, then start data

depend on what

regional structure and

do not exist for many quality

clinical genetic centers willing to

tion of QI methodolog Should be a

on plan to develop, implement and evaluate formal quality improvement processes to improve access.

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

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.

the QI program would address.

coordinating center not involved, 1 year— planning 1-2 years— recruitment and intervention 1 year— evaluation

improvement goals, additional time would be required in the first cycle to establish these goals and identify methodology.

participate May exacerbate workforce problem

y related to genetic access, implementa tion nationally

component of whichever models are recommend ed.

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Timeline/

Time Requirements



Outcomes


use of Resources

Verdict

Model 7- regional clinical support network

• Focused on clinical service; local/state clinics apply for funds from regional centers to meet their specific and unique needs

• Regions coordinated by a central coordinating body

• HRSA could

define specific goals for system

• Trackable outcomes as long as effectively communicated between center and clinics

• 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

• Regional centers focus on contracting and evaluating (less than 12 months to contract, complete the work, evaluate)

• 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

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 Trackable outcomes as long as effectively communicated between center and clinics

Individuals into clinical genetic services that were not previously receiving care.

Resources could be distributed to those centers needing them Some underserved populations may not be reached

Eliminate

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Timeline/

Time Requirements



Outcomes


use of Resources

Verdict

Model 8- Genetic Service Data Centers

• Central coordinating body and regions. Central body works with HRSA to determine data of interest, who has national data sources. Regional centers work with clinical entities, consumers, states to collect data. Goal is to collect data related to access to genetic services

• Different data from NBSTRN and CDC surveillance, to include finding out where patients are, their demographic and 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

• Gets national, uniform baseline data

• Allows measurement of impact of future programs

• Data for policy development

• National data set would be useful in informing the greater medical community

• Could address health equity issues- drill down to different conditions, populations to identify regional and local needs

• Reinforce formal relationships with state programs, can create data together so may not need to give money to state

• Works well with meaningful use standards

• Delays action steps until baseline data collected

• Does not improve access 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 buy- in 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.

• Would have to pay for data entry into a regional/national repository

• This would be an all- consuming 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

Priorities 1 and 6

1-3 years for infrastructure/ database development 1 year- recruitment

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)

Gets national, uniform baseline data Allows measurement of impact of future programs Data for policy development National data set would be useful in informing the greater medical community

There may be other funding mechanism s within HRSA or CDC better suited to this activity.

Fund as a separate entity

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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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Table 4. Recommended Genetic Services Support Center Model

Model Description Pros Cons Priorities

Addressed

Timeline/ Time Requirements



Outcome

s

Promotion of Efficient use of Resources

Hybrid Model – regional genetic service resource network that provides TA, genetics education, and clinical support.

• 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 non- genetics providers. Meaningful engagement of all state health department within a regional entity.

• Identification of underserved populations.

• 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; non- genetics provider education using just-in-time point- of care tools)

• Center would be used to facilitate relationships between states, genetics providers, non- genetics providers, consumers, other existing programs; improved relationship would provide information on tailoring specific programs to the region

• Demonstrating national impact is achievable since common goals/objectives are required

• Should improve access to genetics services including underserved populations.

• 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.

• Lack of consistency in outcomes could affect funding in the long run

• Demonstrating national impact difficult if regional activities highly variable

• Work needs to be done within the healthcare delivery system to impact access, requiring development of robust relationships with providers

Priority 1-6

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)

Infrastructure 1 year if previous infrastructure not used. Initial data collection 1-4 years depending on which projects undertaken first (see timeline) ;

Improved workforc e efficiency Increased services to underser ved areas via telemedi cine Access data from clinical sites Increased participat ion of PCPs in care of genetics patients Improved genetic literacy of non- genetics providers

May take advantage of existing infrastructu re Permits quick pivot to new HRSA priorities if current infrastructu re used and already included necessary partners

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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.

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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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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

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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.

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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

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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

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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.

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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)? Non- profit, 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


The Alaska Pediatric Genetics Clinic offers genetics services for diagnosis and genetic counseling for children and their families with inherited conditions, chromosomal disorders, and birth defects.

Meg Kurtagh Genetics Services Program Manager Newborn Metabolic Screening Co-Manager tel: 907-269-3430/margaret kurtagh@alaska gov

Organizational structure How is the organization organized internally (eg hub and spoke model)?

The State of Alaska’s Section of Women’s Children’s and Family Health contracts with Oregon Health and Science University Genetics Program to provide genetic clinics every other month in Alaska. At these clinics clinical geneticists and genetic counselors evaluate patients and make recommendations for their care.


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.


1. Enabling services 2. Recommendations for surveillance and testing 3. Parent education 4. 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. Receipts from clinic fees (self-pay, private insurance) 2. Medicaid reimbursement 3. Title V Block Grant funds 4. WSGSC (covering travel costs for SOA staff to attend clinics)

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http://dhss.alaska.gov/dph/wcfh/pages/geneticspecialty/genetic.aspx

mailto:907-269-3430/[email protected]

Regional Support Service Model Workgroup Model Review State of Alaska Genetics and Birth Defects Program

Include budget when available


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.


N/A

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?

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

Alaska has been participating in the IRB-approved WSGSC outcome survey to better understand family perceptions of the clinics services and any associated outcomes.


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.


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


The State of Alaska Metabolic Clinic provides biochemical genetic services. At these clinics, a metabolic geneticist and metabolic dietitian provide diagnostic care, follow- up, treatment and counseling for infants, children, and adults with metabolic genetic or suspected metabolic genetic disorders.

Meg Kurtagh Genetics Services Program Manager Newborn Metabolic Screening Co-Manager tel: 907-269-3430/[email protected]


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.


Clinics are held in Anchorage and Fairbanks three times 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 serves infants and children diagnosed through the newborn metabolic screening program, adults with metabolic conditions, and patients referred for suspected metabolic conditions.


1. Enabling services 2. Recommendations for surveillance and testing 3. Parent education 4. 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) Include budget when available

1. Receipts from clinic fees (private insurance or self pay) 2. Medicaid reimbursement from clinic billing 3. Title V Block Grant funds 4. 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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http://dhss.alaska.gov/dph/wcfh/pages/geneticspecialty/genetic.aspx

mailto:907-269-3430/[email protected]

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.


N/A


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

Alaska has been participating in the IRB-approved WSGSC outcome survey to better understand family perceptions of the clinics services and any associated outcomes.


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.


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: 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


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.


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

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)


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)

Funding What is the source of funding and for what amount? Include mechanism for how funds are distributed (eg accreditation, reimbursement, satellite offices)

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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http://www.cdph.ca.gov/nbs

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 GDSP-approved protocol are also contracted by GDSP and paid for each service provided to patient.


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.


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.


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.


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.


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/


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.


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.


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.


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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http://www.cff.org/

https://www.cff.org/



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.

Impact How do you measure the impact and/or success of your services? Please share any data you have on impact or outcomes.

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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http://www.cff.org/2013_CFF_Annual_Data_Report_to_the_Center_Directors.pdf)



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.


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 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/


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 li t t li d d t b t it t Number and locations of

regional centers <10 Academic medical centers ?? 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. The disease is common. 2. The disease has complex management. 3. Treatment for the disease is evolving. 4. The disease has high societal impact. 5. There are serious outcomes of failing to treat the disease. 6. 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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mailto:[email protected]

http://echo.unm.edu/about-echo/model/

http://echocolorado.org/


- 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: ??


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


None identified – not providing direct patient care


- 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)


Some ECHO sessions offer clinics on behavioral and mental health issues


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 on-line


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


Need infrastructure to support teleconferencing – support for set up is provided by central coordinating center

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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

38

Regional Support Service Model Workgroup Model Review Geisinger

Center Name: Geisinger Website Address:


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.

Genomic Medicine Institute

Oncology Genetic Services Clinical Genomics

Pediatric Medical Genetics Maternal Fetal Medicine Genetic Counseling


Non-profit healthcare delivery system Hospitals Providers Health Plan


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.

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

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


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.


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 Information (if available) Includes specific services that the agency engages in to address the mission

The mission of the Department of Health is to protect and improve the health and environment for all people in Hawaii.

The Genomics Section provides: oversight , services, and care coordination for newborn metabolic and hearing screening; information and education about topics in genetics, 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.


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-6-phosphate 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.

41

http://health.hawaii.gov/genetics/hcg/

http://www.hawaiipacifichealth.org/kapiolani/services/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.


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.


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.

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

42


4. Provider consultation

5. Education for medical students and residents 6. Birth defects program clinical review 7. 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.


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.

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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of the system? (application, evaluation process, etc)


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


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.


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/


~140 HTCs. Variable distribution (e.g. 13 in Michigan, >40 in the Northeast US, none in 2 states).

45

http://mchb.hrsa.gov/programs/hemophilia/index.html

https://athn.org/


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.


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


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.


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-Scientific-Advisory-Council-MASAC/MASAC- Recommendations


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 co-pays or professional fees). Centers, national hemophilia advocacy organizations sometime have patient assistance (e.g. transportation). With

46

http://www.hemophilia.org/Researchers-Healthcare-


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.


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.


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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Regional Support Service Model Workgroup Model Review Informed DNA- Not Reviewed

Center Name: Informed DNA

Website Address:


[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?

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).


n/a, virtual network with remote service delivery model

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)

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-to-face 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.

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

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)


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


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.


Administrative teams, registration/scheduling, patient care coordination and genetic counselors, managers.

Telephone Consultation 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


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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http://www.genetics.dhh.louisiana.gov/



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)


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



Impact How do you measure the impact and/or success of

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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your services? Please share any data you have on impact or outcomes.


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.

52

Regional Support Service Model Workgroup Model Review MDA Clinics-DRAFT

Center Name: MDA Website Address: http://www.mda.org/


To save and improve lives of people fighting muscle disease as we: find treatments and cures; support families; and rally communities.


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


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 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)

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.)

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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http://www.mda.org/

http://www.mda.org/sites/default/files/ALS_Centers_and_Clinics-05_2014.pdf

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)


Found publication in Spanish but not Arabic, Chinese or French. No specific data on website targeting underserved populations.



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.



http://www.mda.org/careers/jobs


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


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.

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http://www.mda.org/careers/jobs

Regional Support Service Model Workgroup Model Review NCC/RC System

Center Name: NCC/RC System Website Address: www.nccrcg.org


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)

Organizational structure How is the organization organized internally (e.g. hub and spoke model)? Non-profit, for profit, government agency?

7 regional, 1 National Coordinating Center (which includes a National Genetics Education and Consumer Network, since 2012)


7,900 participants in education and training sessions 2013-14; however, far more reached in other activities (see below)

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 (within the context of a time frame)

All newborns (via newborn screening) Individuals at risk for or affected with genetic conditions Public health genetics Genetics professionals Primary care providers

Services provided (e.g. direct care, enabling infrastructure building, population based)

All are part of the scope of the regions, depending on the need of the region.

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 l b d 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,

NCC and NGECN funding (each year for 2 years ending May 31, 2017): • $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).

55

http://www.nccrcg.org/


include % of budget used for services being described)

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.


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.


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


Demonstration projects, advocacy, and partnership. No direct services


Yes, anything created by any of the RCs (durable products) is made available to all grantees.

Surveys, educational materials, white papers, project reports, etc.

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http://www.nccrcg.org/docs/NCC/Evaluation/Products/HRSA_Evaluation_brief_2013_2014.pdf



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. Other Public Awareness Campaigns

• CPT1a brochures and videos • Translation of materials into other languages

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Regional Support Service Model Workgroup Model Review NDSS and DS Specialty Clinics

Center Name: NDSS and DS Specialty Clinics Website Address:


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

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.


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.

58


http://batchgeo.com/map/19b72e7cf8ec0cd65d5da641cda3bb11



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


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?

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

Resources Is there a set of resources that the central coordinating body makes available to

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;

59


satellite centers? If so, what are these resources?

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 800-221- 4602 or email info@ndss org


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Regional Support Service Model Workgroup Model Review Seattle Children’s

Center Name: Seattle Children’s Website Address: http://www.seattlechildren’s.org


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 Number and locations of regional centers 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) Idaho state Medical License, DEA, State Medicaid programs 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?

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 N/A Resources Is there a set of resources that the central coordinating body makes available to satellite centers? If so, what are these resources?

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)


Medical Geneticists from SCH Genetic Counselors on each site SCH Dieticians


N/A


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/


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.


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.


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

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.

63

http://www.telehealthresourcecenter.org/

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)


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:


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

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

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 co-located with the NHS supported East Anglia Regional Genetics Service and lab.

65

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)


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.

66

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/


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)


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.


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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http://www.telehealth.va.gov/



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.


Genetic counseling. Recommendations for testing.


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.


VA wants 50% of all healthcare visits to be done by telehealth by 2020.


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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VAMC or outreach clinic signs MOA with VA Telegenomics Program.


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.


Services are exclusively done using telehealth methods.


• 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


DOH Mission: To protect and improve the health of Washington residents.

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.

Organizational structure How is the organization organized internally (e.g. hub and spoke model)?

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.

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

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.

Services provided (e.g. direct care, enabling infrastructure building, population based)

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 l l d 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 funds are a blend of federal (HRSA Maternal and 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) Tri-Cities/Yakima/Spokane contracts ~$150,000/yr. Annual meeting (including travel) $4,500

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http://www.doh.wa.gov/YouandYourFamily/InfantsChildrenandTeens/HealthandSafety/GeneticServices

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


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 What data are being collected by the center to indicate the magnitude and types of services provided? Are the data collected to improve health outcomes?

The Council of Regional Genetic Clinics (CORN) Minimum Data Set (originally developed ~1991) that has been modified over the years by WA genetic service providers using a consensus process. These are aggregate unlinked service utilization data. Forms available upon request. Data are collected to monitor trends 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 record database, Behavioral Risk Factor Surveillance System, PRAMS, CHARS, etc.)


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

How does an entity (clinic, provider, etc.) become a part of the system? (Application, evaluation process, etc.)

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

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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

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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 Methods Sample

Respondents Assessing Collaborative Activity Type of stakeholders

Types of engagement by type of stakeholders Degree to which stated aims were met Bi-directional exchanges with organizations

Working Together Survey or other engagement survey

Consumers Providers National partners

Central Coordinating Body1 Stakeholder engagement Benefits/Disadvantages to stakeholders in participating Satisfaction Degree to which stated aims were met

3600 Review Regional centers HRSA National partners

Resource Center Materials # 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

Establish a set of common data elements

Families Providers HRSA National partners

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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)

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

Trainees

Telemedicine Sites # 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)

Count of sites Providers Patients

Care Coordination 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

CSHCN National Survey, CAHPS, MCHB Child Health Survey Medical record review, Billing data review Build on the Region 4 Midwest Care Coordination measures

Families Providers Administrative billing records, Medical records

Model 3 Regional Genetics Education and Technical Assistance Centers Education #, type and content of

education sessions # by types of participants Evaluation of session by participants Trainees’ perceived outcomes of training (e.g. knowledge gained, planned change in behavior; actions taken)


Providers/ Professionals Local/ Community partners Title V Other state agencies/ partners Inter/Intra-Regional National

Linkages with LEND # of LEND trainees doing genetics projects


LEND trainees

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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)


Providers/ Professionals Local/ Community partners Title V Other state agencies/ partners Inter/Intra-Regional National

Consumer # 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)


Consumers

Linkages with national orgs, e.g., Family Voices

# of joint projects Establish a set of common data elements

Consumers

Model 5 Public Health State genetics capacity # 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 Baseline

assessment Participants in QI

Depends on the topic(s) chosen Changes

Periodic assessments

Participants in QI

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Model 7 Regional Clinical Support Network Clinics # of sites that receive funds

Visit characteristics (initial vs. follow-up, referral source, diagnostic or treatment, etc.)

Patients # of new patients # of patients continuing in care Waiting time for new patient non-emergency appointments Patient characteristics (demographic, by diagnosis, duration of diagnostic odyssey etc.) Patients’ perceived outcomes of service; functioning, quality of life

Funded clinics

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

Funded clinics

Model 8 Genetic Service Data Centers National data Environmental scan of genetics

data available Plan data collection to fill in the gaps

Assess current data resources

Sources: CDC HRSA NIH AHRQ Resources: PRAMS, CSHCN Survey, State NBS, Mortality, Insurance, Consumer Assessment of HealthCare Providers and Systems-CAHPS

National data Access Health insurance Care coordination Transition Use of telemedicine

Baseline assessment

Patients Providers FQHCs

National data Access Health insurance Care coordination Transition Use of telemedicine

Periodic assessments

Patients Providers FQHCs

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