Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening.

Limited competency in genetics among primary care providers (PCPs) is a barrier to use of genetic information in healthcare. Formal genetics lessons require time and interest, and knowledge wanes. We hypothesized another path to competency: participation in our PCP-centered adult clinical genomic population health screening program. We asked participating Family Medicine PCPs about their perceptions of growth in their genetics competency. An anonymous, voluntary, cross-sectional survey was developed and distributed to PCPs offering the screening. Results were compiled after 3 weeks. PCPs rated several program resources for value and provided open-ended feedback. Seventy-five percent of respondents agreed that genetics is important to their practice. Eighty-seven percent felt that their knowledge of clinical genetics topics had grown. Eighty-seven percent perceived increased confidence in offering genetic testing and in discussing common genetic results with patients. Respondents gained appreciation for the scope of clinical utility that genetic information offers patients. Each education resource rated at least 3.75 out of 5 for contributing to genetics knowledge. The case-specific Genomic Medicine Action Plan rated highest in educational value, 4.5 out of 5. Most responding PCPs offering genomic population health screening perceived growth in their genetic competency and found hands-on, case-based resources most useful.

Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel.

To realize the promise of genomic medicine, harness the power of genomic technologies, and capitalize on the extraordinary pace of research linking genomic variation to disease risks, healthcare systems must embrace and integrate genomics into routine healthcare. We have implemented an innovative pilot program for genomic population health screening for any-health-status adults within the largest health system in Vermont, United States. This program draws on key research and technological advances to safely extract clinical value for genomics in routine health care. The program offers no-cost, non-research DNA sequencing to patients by their primary care providers as a preventive health tool. We partnered with a commercial clinical testing company for two next generation sequencing gene panels comprising 431 genes related to both high and low-penetrance common health risks and carrier status for recessive disorders. Only pathogenic or likely pathogenic variants are reported. Routine written clinical consultation is provided with a concise, clinical "action plan" that presents core messages for primary care provider and patient use and supports clinical management and health education beyond the testing laboratory's reports. Access to genetic counseling is free in most cases. Predefined care pathways and access to genetics experts facilitates the appropriate use of results. This pilot tests the feasibility of routine, ethical, and scalable use of population genomic screening in healthcare despite generally imperfect genomic competency among both the public and health care providers. This article describes the program design, implementation process, guiding philosophies, and insights from 2 years of experience offering testing and returning results in primary care settings. To aid others planning similar programs, we review our barriers, solutions, and perceived gaps in the context of an implementation research framework.