Stakeholders’ Views on Returning Polygenic Risk Scores

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.