Project Description & Outcomes
From 2004 to 2017, HRSA/MCHB funded regional genetics and newborn screening collaborative awardees to provide leadership to expand, strengthen, and evaluate access to a system of genetic services. These awardees focused their work on a variety of topics including: newborn screening (NBS) laboratory quality assurance; NBS laboratory emergency preparedness; guidance to state public health officials on the addition of heritable disorders for state NBS panels; short and long-term follow-up and data collection on individuals identified through NBS and confirmatory testing; medical home and care coordination; transition from pediatric to adult care; strategic outreach via telemedicine to patients and providers; access to health care coverage for genetic testing and treatment; education of primary care providers; and engagement of families affected with genetic conditions, including education about family history. Regional activities were built upon collaboration with state public health agencies (Title V and NBS programs), community organizations, genetics specialists, primary and specialty care providers, and individuals with genetic conditions and their families.
While progress has been made in expanding and improving access and knowledge around genetic services, there are still gaps in the delivery of genetic services provided to medically underserved populations. These gaps include: geographic disparities in where the small medical genetic workforce is distributed (i.e., the workforce tends to be found in urban areas and/or academic medical centers) and health insurance reimbursement for genetic testing and counseling is limited, if covered at all. Improving the integration of genetic services with primary care, particularly for underserved populations, has been a focus within the Maternal and Child Health Bureau’s Children with Special Health Care Needs programs. For FY 2017, MCHB continues to focus on reducing morbidity and mortality caused by genetic conditions in newborns and children by establishing the Regional Genetics Networks (RGNs). The RGNs will address issues related to improving the access and quality of genetic service delivery. The RGNs are tasked with implementing innovative practices to connect underserved populations with clinical genetic services and provide resources to genetic service providers, primary care providers, families, and state public health workers in order to better support underserved populations. Each RGN will collaborate with the National Coordinating Center for the RGNs (NCC) and the National Genetics Education and Family Support Center.
This program will address these problems/needs through the following activities:
- Establish a steering committee made up of stakeholders to provide guidance on meeting regional needs;
- Implement a strategic plan to identify and link underserved populations within each state of the region served by the RGN to genetic service providers that provide services to patients within the state;
- Establish partnerships and contracts with regional academic institutions, health systems, and public health to coordinate access to genetic services for underserved populations;
- Develop a regional web-based genetics resource for primary care providers, public health professionals, and patients/families that will identify and map genetic services and resources in the region;
- In coordination with the NCC and other entities so as not to duplicate efforts, develop educational resources for primary care that increase the ability of providers to identify, refer, and use genomic information in clinical management;
- Provide technical assistance activities to support genetic service providers to improve practice efficiencies (e.g. health information technologies, such as telehealth strategies, mobile applications, etc.) to reach underserved populations;
- Facilitate telehealth/telemedicine outreach services within the region;
- Promote patient and family engagement as partners in care by having patients/family members on workgroups and advisory groups and by collaborating with National Genetics Education and Family Support Center;
- Identify quality improvement (QI) activities for connecting medically underserved individuals to genetic services and collaborating with the NCC on QI activities to achieve the aims of the award, including:
- Connecting underserved populations with clinical services,
- Providing resources to genetic service providers, primary care, and public health agencies, and
- Improving the quality of genetic care, with a focus on areas of need (e.g. integrating genetic services with primary care).;
- Engage key stakeholders, including HRSA-funded programs;
- Support an annual regional meeting of partners and other stakeholders and experts working within the region;
- Collect RGN data and submit to the NCC.
Among the planned project outcomes are the following:
- Training curriculum for Community Health Workers to identify and refer individuals from medically-underserved populations to appropriate genetic services;
- Education of primary care providers via Project ECHO and eConsults;
- Dissemination of project reports, products and other outputs via the project web-site, eNewsletter, publications, presentations and project partners.