Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.

American journal of human genetics
Authors
Abstract

The differential performance of polygenic risk scores (PRSs) by group is one of the major ethical barriers to their clinical use. It is also one of the main practical challenges for any implementation effort. The social repercussions of how people are grouped in PRS research must be considered in communications with research participants, including return of results. Here, we outline the decisions faced and choices made by a large multi-site clinical implementation study returning PRSs to diverse participants in handling this issue of differential performance. Our approach to managing the complexities associated with the differential performance of PRSs serves as a case study that can help future implementers of PRSs to plot an anticipatory course in response to this issue.

Year of Publication
2024
Journal
American journal of human genetics
Date Published
04/2024
ISSN
1537-6605
DOI
10.1016/j.ajhg.2024.04.005
PubMed ID
38688278
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