Stakeholders’ Views on Returning Polygenic Risk Scores

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Dr. Appelbaum will discuss findings from a series of focus groups with patients, clinicians, and IRB members on return of polygenic risk scores in research. Despite strong interest in such results, they found multiple barriers to their effective use to improve health.

Overview of Presentation

We conducted online focus groups, as part of the eMERGE-IV study, with patients/community members, clinicians, and IRB members to explore their views on return of polygenic risk scores (PRS) for common disorders.
Across stakeholder groups, there was strong interest in having PRS results returned to research participants.
However, there were significant differences in stakeholders’ views about resources needed for PRS data to translate into improved participant health.
Issues identified included researcher-participant communication, health and genomic literacy, and a range of structural barriers such as financial instability, insurance coverage, and the absence of health-supporting infrastructure in poorer neighborhoods.
The promotion of equity in genomic research and clinical applications will require measures to facilitate effective use of PRS and other genomic data in the real world.

Paul S. Appelbaum, MD

Dollard Professor of Psychiatry, Medicine & Law

Columbia University

Paul S. Appelbaum, M.D. is the Elizabeth K. Dollard Professor of Psychiatry, Medicine, and Law, and Director, Center for Law, Ethics, and Psychiatry, Department of Psychiatry, Vagelos College of Physicians and Surgeons, Columbia University. For 13 years, he directed Columbia’s NHGRI-funded Center of Excellence in ELSI Research. His recent research has focused on the ethical and psychosocial impact of advances in genetics. Dr. Appelbaum is a Past President of the American Psychiatric Association and the American Academy of Psychiatry and the Law, now chairs the APA’s DSM Steering Committee, and is a member (and former chair) of the Standing Committee on Ethics of the World Psychiatric Association. He has been elected to the National Academy of Medicine. Dr. Appelbaum is a graduate of Columbia College, received his M.D. from Harvard Medical School, and completed his psychiatry residency at the Massachusetts Mental Health Center/Harvard Medical School.