Implementing and Evaluating Genomic Screening Programs in Health Care Systems: A Workshop

When: November 1, 2017 (8:30 AM Eastern)
Where: Keck Center (100) • 500 Fifth St. NW, Washington, DC 20001

Topics Biomedical and Health Research, Public Health
Activity: Roundtable on Genomics and Precision Health
Board: Board on Health Sciences Policy

Genomic applications can be embedded into a broad range of clinical and research activities. Increasing amounts of genomic data are currently being generated and incorporated into a variety of health systems in the United States and abroad and each instance presents a natural “experiment” offering the opportunity for learning about the integration of genomics into health care ecosystems. Of particular interest is genomic screening or genomic-based screening programs, referred to in the context of this workshop as clinical screening programs with the goal of examining genes or variants in unselected populations in order to identify individuals at risk for future disease or adverse drug outcomes for which there are clinical actions to mitigate risk. Many current genomic-based screening programs examine germline variability in specific genes that have been evaluated and recommended by groups such as the ACMG, USPSTF, and/or EGAPP. There is potential strength in evaluating common outcomes of implementing these screening programs across multiple large health systems and organizations that incorporate data from diverse population groups in order to understand how genomics may or may not ultimately benefit all population groups. Tracking data from early implementers on the potential health benefits and harms of genomic screening programs may provide important evidence needed to assess the effectiveness and safety of genomic screening in unselected populations.

The Roundtable on Genomics and Precision Health hosted a public workshop on November 1, 2017 that explored the challenges and opportunities associated with integrating genomics into large-scale health organizations. Case studies of large-scale genomics programs and collaborative learning networks were highlighted during the workshop as a way to understand successes and lessons learned regarding economic considerations (e.g., clinical utility, value), policy environments (e.g., alleviating privacy and discrimination concerns for participants), and data sharing. Workshop discussions were held with a broad array of stakeholders including health economists, representatives from health care delivery systems, public health officials, bioethicists, implementation science researchers, clinicians, payers, and policy makers. 

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