Stakeholder Perspectives on Ethical and Social Implications of Using Clinical Polygenic Risk Scores through Embedded ELSI Research

Many polygenic risk scores (PRS) have been published with an eye towards clinical implementation. However, little work has been done on the social and ethical considerations of calculating and returning PRS, particularly across genetic ancestral backgrounds. 

This session reports findings from embedded ELSI studies examining social and ethical considerations of returning clinical PRS across diverse populations. The panel will advance our understanding of critical issues that must be addressed to maximize potential benefits of clinical PRS. Following an introduction to the topic, Maya Sabatello describes the views of patients, clinicians and IRB members about challenges translating PRS research into improved care and strategies to promote health equity. Broadening our understanding of variation in stakeholder views, Sabrina Suckiel highlights English- and Spanish- speaking patients’ perceptions of clinical utility of PRS, preferences regarding return of information and potential barriers to uptake. 

The format of PRS results can impact patient and provider understanding of risk and responsiveness to corresponding recommendations. Anna Lewis discusses research on stakeholder preferences regarding various formats of return and the potential impacts on use and understanding. Finally, Ellen Clayton presents data on the role of patient education to ensure researchers understand racial/ethnic minority views on clinical PRS. Following discussion, closing remarks will highlight the utility of embedded ELSI projects within large-scale PRS or genomic studies and offer recommendations for future research. These studies, embedded in the Electronic Medical Records and Genomics (eMERGE) IV Network, were designed to inform return of actionable PRS for common complex diseases to patients and their healthcare providers.

Recorded session from the 2021 virtual meeting.