Principles and methods for transferring polygenic risk scores across global populations

Linda Kachuri, Nilanjan Chatterjee, Jibril Hirbo, Daniel J. Schaid, Iman Martin, Iftikhar J. Kullo, Eimear E. Kenny, Bogdan Pasaniuc, Paul L. Auer, Matthew P. Conomos, David V. Conti, Yi Ding, Ying Wang, Haoyu Zhang, Yuji Zhang, John S. Witte, Tian Ge

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations

Abstract

Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in populations of predominantly European genetic ancestries can increase health disparities due to poor predictive performance in individuals of diverse and complex genetic ancestries. We describe genetic and modifiable risk factors that limit the transferability of PRSs across populations and review the strengths and weaknesses of existing PRS construction methods for diverse ancestries. Developing PRSs that benefit global populations in research and clinical settings provides an opportunity for innovation and is essential for health equity.

Original languageEnglish
Pages (from-to)8-25
Number of pages18
JournalNature Reviews Genetics
Volume25
Issue number1
DOIs
StatePublished - Jan 2024

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