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

Anna C.F. Lewis, Rex L. Chisholm, John J. Connolly, Edward D. Esplin, Joe Glessner, Adam Gordon, Robert C. Green, Hakon Hakonarson, Margaret Harr, Ingrid A. Holm, Gail P. Jarvik, Elizabeth Karlson, Eimear E. Kenny, Leah Kottyan, Niall Lennon, Jodell E. Linder, Yuan Luo, Lisa J. Martin, Emma Perez, Megan J. PuckelwartzLaura J. Rasmussen-Torvik, Maya Sabatello, Richard R. Sharp, Jordan W. Smoller, Rene Sterling, Shannon Terek, Wei Qi Wei, Stephanie M. Fullerton

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)999-1005
Number of pages7
JournalAmerican Journal of Human Genetics
Volume111
Issue number6
DOIs
StatePublished - 6 Jun 2024

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