Research Project: IRB Members’ Views on Ethics of Research Using Polygenic Risk Scores

We are part of a research group at Columbia University Irving Medical Center that is participating in the NIH-sponsored Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network study. The goal of eMERGE is to examine how polygenic risk scores (PRS)—which use a person’s genetic information to determine risk for a variety of health conditions—can be used to improve people’s health. At each of the 10 eMERGE sites, 2500 adult and child participants will be recruited, with a special emphasis on racial and ethnic groups that are frequently underrepresented in research.

The eMERGE study will allow for a rigorous test of the practical value of predictive genetic scores for 10 different common diseases such as diabetes, obesity, and colorectal cancer, especially with regard to clinicians’ recommendations and patient uptake of appropriate preventive measures.

As part of our site’s exploration of the ethical, legal, and social issues involved in research using polygenic risk scores, we are conducting a series of focus groups with various stakeholder groups to explore views on these issues. The goal is to develop better understanding of their perspectives and identify ways to improve the design of the study—addressing both practical and human subjects issues—before it begins. So far our focus groups have included patients and clinicians. Now we are interested in IRB members’ perspectives on the ethical and regulatory challenges that can arise from a study like this.

Participants will be asked to join a 90-minute online focus group (scheduled at a convenient time) to share their thoughts on the ethical and regulatory issues in research on polygenic risk scores. Focus group participants don’t need any prior knowledge of PRS to participate in this study. PRS is a new approach and participants will be told more about it at the focus group.

The lead researchers will join each focus group, along with a professional focus group facilitator. 

Participants will be offered a $50 gift card for taking part in a focus group.

If you are interested in participating in this study or have questions about it, please contact:

Paul S. Appelbaum, MD
Department of Psychiatry
Columbia University Irving Medical Center
Maya Sabatello, LLB, PhD
Departments of Medicine & Medical Humanities and Ethics
Columbia University Irving Medical Center

Paul S. Appelbaum, MD, is a psychiatrist with many years of studying the ethics of human subjects research.




Maya Sabatello, LLB, PhD, is a transdisciplinary bioethicist focusing on diversity and inclusion of underrepresented communities in genetic research.