INTRODUCTION

Increasing genetics and genomics knowledge of health-care professionals and the general population promises disease prevention, improved diagnosis, and innovative treatments of genetic conditions. However, limited access to genetic services for many individuals remains a problem (Alexander et al., 2015). In 2004, the Maternal and Child Health Bureau of the Health Resources and Services Administration (MCHB/HRSA), Genetic Services Branch (GSB) awarded grants to establish seven Genetics and Newborn Screening Regional Collaborative Groups (RCs) and a National Coordinating Center (NCC) as part of efforts to improve the health of children and their families. Their goal is to promote the translation of genetic medicine into public health and healthcare services.

In 2015, the NCC began a process of assessing what models of regional genetic services support centers might help close gaps in access to genetic services. In addition, the process considered how future genetic services might be designed/defined given the increased role of non-genetic service providers, the shifting healthcare environment within the United States, and future technological developments within the science of genetics and genomics. Primary care professionals and other specialists, rather than genetic services providers, will be expected to not only oversee the long-term management of a clinical condition, but also to understand the genetic risk factors underlying the condition and how genetics will affect treatment options for the individual patient. Movement toward implementing precision medicine paradigms will further introduce pressures to increase genetic considerations into practice models.

Identifying the structures required for the delivery of genetic services and the indicators of quality, effectiveness, and success of genetic services requires definition of the overall aims and elements of clinical genetic services. For the NCC assessment process, genetic services were divided into family-focused clinical services and population-based services. Objectives of genetic services encompass genetic testing, diagnosis, counseling, follow-up, support services to extended families, education, and coordination of health surveillance.

This report summarizes the data gathering and analysis of the Regional Support Services Model Workgroup (WG) and Advisory Committee (AC), established by NCC to outline structures for regional genetic services support centers that improve access to clinical genetic services. The WG and AC recognized that the use of recent technologies, especially in healthcare informatics and telehealth, might increase access and quality of service delivery and thereby address unmet needs for genetic services. Recommendations to address some systemic barriers, including the variability and number of health insurance plans and the variability of their essential genetic services, lack of mandatory coverage for certain important services, and low payment for cognitive as opposed to procedural work, were beyond the scope of this project. Rather, the WG was asked to consider ways in which various service model structures might improve access in the face of these barriers. Other barriers, such as licensure across state lines and an inadequate focus on the mental health domain, were considered to be within the broad scope of this review. Redefinition of the roles of primary care providers, subspecialists without genetics training, and genetic counselors were also considered as a method to improve quality and access to genetic services.

MATERIALS AND METHODS

The WG conducted a literature review seeking published data and information on genetic service delivery models1,2,3,4,5,6,7,8,9,10,11,12 using the following key words: genetic service delivery, regional models, public health genetics, regional health systems, healthcare services delivery. The WG then focused on two sets of information: need for genetic services and the infrastructure needed to deliver those services. First, NCC and the National Genetics Education and Consumer Network (NGECN) conducted an assessment of the need for genetic services. This assessment began with stakeholder listening sessions from January through July 2015 for stakeholders not engaged in the current regional genetics collaborative system. Stakeholders were identified through open solicitation of American College of Medical Genetics and Genomics (ACMG) members, Family Voices members, American Academy of Pediatrics (AAP) Genetics workgroup, regional genetics collaboratives, public health genetics professionals, and consumer organizations. The in-person and telephone-based sessions asked at least the following four broad questions, but were otherwise unstructured and open-ended: (1) How do you define genetic services?, (2) What are existing gaps in genetic services?, (3) What are existing regional models that should be considered?, and (4) What key elements should a regional genetic support service center model contain? The sessions offered insight into how genetics professionals, consumers, public health, and primary care providers perceived the current gaps in services. These sessions, with more than 250 participants, formed the basis for the NCC and NGECN-led national needs assessment surveys conducted in late 2015 with consumers, genetics professionals, public health, and primary care professionals (NCC provider survey, fall 2015, 924 respondents; NGECN consumer survey, fall 2015, 1355 respondents). Data from the surveys were provided to the WG and AC13 and were analyzed to identify priorities for future regional genetic services support centers. Based on the priorities identified from the needs assessment surveys, the WG developed an initial set of 25 components to be included in future regional genetics services support centers. By combining similar components, this list was refined to 15 priority needs that were grouped into 6 categories (Table 1).

Table 1 Identified priorities based on national needs assessments and potential strategies to address them (not ranked; listed alphabetically)1
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Next, the WG reviewed existing national and regional centers supporting individuals and their families with genetic and other conditions. Thirty-five service centers providing regional care were identified via the listening sessions, along with AC and WG member recommendations. Ultimately 14 centers were prioritized for review based on a survey sent to the WG and AC; they were then reviewed using a center review template. The service centers chosen represented diverse programs serving individuals and their families with genetic and other conditions and providing services at the state, regional, and/or national levels. See Table 2 for reviewed centers, and Table 3 for the center review template.

Table 2 Reviewed regional centers
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Table 3 Template elements
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The WG and AC included center characteristics as components of model systems based on information received from the centers; for example, no center provided onsite mental health services, so this characteristic was not included as a characteristic as models were proposed. However, characteristics considered as high priority in the needs assessment, such as inclusion of families in decision-making roles, were included in final recommendations even if not identified in reviews of the 14 centers. As a result of this process, the WG and AC identified eight models. These models sought to identify possible organizational structures and overall purposes of these structures. Each model’s advantages and disadvantages were identified by the WG and AC. The AC provided the WG oversight and reviewed the products of the WG. Together, the AC and WG proposed a series of recommendations, based on considerations of local, regional, and national needs, to build a system to improve access to genetic services.

RESULTS

Review of the 14 centers showed great variability in mission, resulting in highly individualized organizational structure, budget, source of funding, populations served, services provided, staffing, and ability to measure impact. Key themes across all reviewed centers included the following: a regional collaborative structure with a central coordinating office can facilitate sharing of resources; technical assistance (e.g., telehealth) can expand the availability of health care to underserved populations; and workforce issues are real, which limits the expected role of the specialist. The eight models identified by the WG and AC are shown in Table 4; each model emphasized one of the following priorities: regionalization with state teams, local clinical support, education and technical assistance, patient engagement, public health, quality improvement, regional clinical support, and data collection. Focus on these individual priorities allowed the WG and AC to assess the feasibility of recommending a center structure that utilized all available resources for a well-defined but single purpose. The advantages and disadvantages of the different models were compiled by the WG and AC and are shown in Table 5.

Table 4 Eight regional models
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Table 5 Model Advantages and Disadvantages
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DISCUSSION

Following review, the AC and WG proposed adoption of a hybrid model combining components of models 1, 2, and 3. Each of these three models utilized a regional infrastructure. Model 1 built upon the regional infrastructure, including public health and health-care professionals and families, to develop a team of stakeholders and implement projects to improve access to genetic services. Model 2 promoted 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, and other activities as identified through interaction with genetics providers. Model 3 emphasized aggressive and targeted support of nongenetics providers through promotion of their relationships with genetic centers, provision of point-of-care decision support tools, 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. The hybrid model included all of these elements, although the WG and AC recognized that some issues might remain unaddressed.

The WG also identified two overarching principles that should guide the development of future genetic services support centers: (1) family engagement, including inclusion of family advocates in leadership roles, is fundamental to future genetic services support centers; and (2) the goals and activities of regional genetic services support centers should be similar enough to allow identification of meaningful national outcome measures and quality of genetic services. However, these national activities and goals should not preclude regional-level innovation. In addition to the overarching principles noted above, the WG and AC recommended that four key components be included in future regional genetics support service centers. These components were identified based on center reviews as well as the experience of WG and AC members in delivery of genetic services and in public health genetics:

  1. 1.

    A regionalized structure. This structure is envisioned as collaborative, with interventions at the delivery system level. This structure permits attention to geographic and demographic factors that vary across the United States (e.g., northeastern United States versus western United States, including Hawaii and Alaska). Such attention can increase access to genetic services by permitting the design of interventions that make sense in some regions but not in others. This recommendation was based on reviews of other regional infrastructures (e.g., cystic fibrosis centers); it leverages the success of the current regional infrastructure as a framework for bringing together genetics stakeholders and establishing relationships among diverse partners.

  2. 2.

    Coordination through a central coordinating body. Central coordination, through a collaborative process, ensures that the support centers adopt national goals and implement them to permit national data collection demonstrating national outcomes.

  3. 3.

    Integration within the health-care delivery system. This is a requirement for meaningful impact on access to genetic services. Providers and consumers agreed that substantial day-to-day systemic challenges at all levels (provider, consumer, insurer, and clinic) prevent identification of patients needing services, referral, authorization, and timely provision of services. Active engagement with clinicians in their daily patient care activities (e.g., technical assistance in the development of telegenetics, design and monitoring of quality improvement projects, assistance in strengthening relationships between genetics providers and primary care providers) is critical if resource centers are to impact access.

  4. 4.

    Coordination/collaboration with state public health departments. States have a key role in identification, assessment, policy development, and assurance for individuals and populations in need of genetic services. Therefore, they must function with the health-care delivery system and consumers as all grapple with day-to-day systemic challenges of providing care. As examples of effective state engagement in genetic services, Hawaii and Washington public health departments have had a central role in reaching underserved populations through support of genetics outreach services and genetics professional recruitment.

The relationship of future regional genetics support service centers to state public health departments should be region-specific, taking into account the current commitment of individual states to genetic services, since there is wide variability in state fiscal and infrastructure commitment to genetics. Engaging all state public health departments within future regional service support centers will provide twofold benefit: where a state’s commitment is limited, future support centers’ activities should emphasize information exchange, partnerships and mentoring opportunities, and policy development for genetic conditions of public health impact. States that have invested significant resources in genetics have an integral role in regional centers. Such states demonstrate what an expanded state engagement in genetics produces, and they can mentor other states as they enhance their genetics programs. HRSA, through MCHB and GSB, could model support for genetic services via prioritizing genetics objectives throughout MCHB programs and enhancing the role of genetic services in broader access to service programs, such as Title V.

The WG and AC recognized multiple remaining critical gaps in providing access to genetic services that extend in time, scope, and financial reach beyond what likely future regional genetic service support centers could address. These gaps fall within two general areas: workforce and data. Workforce gaps include provision of nongenetics provider education; support for increasing the number of physician geneticists, genetic counselors, and other highly specialized providers for treatment of genetic conditions (e.g., dietitians for metabolic conditions); and provision of mental health services for those impacted by genetic conditions. Genetics data gaps are systemic, in that there currently is no collection of robust national and regional data on access to genetic services. The WG and AC recommended that GSB and HRSA begin to address these gaps through internal resources and collaborations with national professional organizations.