Understanding the Current Landscape of Genetic Services through Multi-Stakeholder Data
Topic: Public Health
Presenting Author: Alisha Keehn, MPA, ACMG--NCC
Co-Authors: D. Maiese, ACMG--NCC; M. Lyon, ACMG; J. O'Leary, Genetic Alliance
Session Type: Poster Presentation only
To understand current issues in genetic services; service gaps and potential solutions, the National Coordinating Center for the seven Regional Genetic Service Collaboratives conducted a national need assessment in 2015. Surveys were fielded to reach individuals affected by genetic conditions and to providers of multiple disciplines and assessments were made about genetic capacity in the States. This study of current conditions in genetic practice is designed to inform public policy development and present possible solutions for improving access to genetic services. The NCC is administered by the American College of Medical Genetics and Genomics (ACMG), in partnership with the Genetic Alliance as a subcontractor for the National Genetics Education and Consumer Network.
A 34-item survey focused on access to and quality of care prior to and after receiving a genetic diagnosis was sent via Survey Monkey® to individuals who were subscribers of the Genetic Alliance listservs, social media followers or individuals who were reached via a paid Facebook advertisement.
Using the American College of Medical Genetics and Genomics Member Directory, membership directories from regional collaborative partners, as well as listservs from national partners, and social media, a 16-question survey was electronically distributed to providers (medical geneticists, genetic counselors, metabolic dietitians, other genetic professionals, public health genetics professionals, and primary care providers).
Additional data were collected by the RCs using a Genetic Systems Assessment Tool to profile State genetics public health infrastructure and to assess various models of service delivery.
Responses were received from both adults living with a genetic condition as well as from guardians providing care for someone with a genetic condition (n=1,355). The results document issues related to time to diagnosis, challenges in accessing genetic testing, what consumers looked for concerning genetic services, as well as areas of greatest difficulty in accessing information and services. For almost half of the adults surveyed it took more than 5 years from the onset of symptoms to receive a diagnosis. Participants encountered substantive barriers in accessing social and emotional support services, specialist visits, and therapies. The results also point to potential new directions, e.g., trained patient navigators and telemedicine services.
The responses of 924 genetic professionals and related providers present a snapshot of current practice and an assessment of workforce issues. When compared with previously published workforce studies, these data show that wait times have increased and the average new patient caseload has increased. This survey also shows few respondents reported use of telemedicine in their practices.
The Genetic Systems Assessment Tool was developed by the Heartland RC and has been used by five other RCs. As of 2015, an assessment of genetic public health capacity was completed in 32 States.
This is the first national-level data from both genetics providers and consumers to document genetic health service needs and conditions. The state-based genetic service assessments offer further information about the genetics capacities of public health systems. Taken together these assessments offer insight into patient needs, provider issues, and public health functions. Data from these multiple sources can inform service delivery in clinical practice and are useful in public policy and educational activities to influence the future of genetic services. These data show the changing landscape of genetic services and point towards potential solutions for improving access.
The NCC is funded by U22MC24100, awarded as a cooperative agreement between the Maternal and Child Health Bureau/Health Resources and Services Administration, Genetic Services Branch, and the American College of Medical Genetics and Genomics. NCC would like to acknowledge the work and effort of the NCC Evaluation Workgroup in their support of the national, regional, and state needs assessments.