Clinical use of current polygenic risk scores may exacerbate health disparities

Alicia R. Martin, Masahiro Kanai, Yoichiro Kamatani, Yukinori Okada, Benjamin M. Neale, Mark J. Daly

Research output: Contribution to journalArticlepeer-review

741 Scopus citations

Abstract

Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision medicine. However, the major ethical and scientific challenge surrounding clinical implementation of PRS is that those available today are several times more accurate in individuals of European ancestry than other ancestries. This disparity is an inescapable consequence of Eurocentric biases in genome-wide association studies, thus highlighting that—unlike clinical biomarkers and prescription drugs, which may individually work better in some populations but do not ubiquitously perform far better in European populations—clinical uses of PRS today would systematically afford greater improvement for European-descent populations. Early diversifying efforts show promise in leveling this vast imbalance, even when non-European sample sizes are considerably smaller than the largest studies to date. To realize the full and equitable potential of PRS, greater diversity must be prioritized in genetic studies, and summary statistics must be publically disseminated to ensure that health disparities are not increased for those individuals already most underserved.

Original languageEnglish
Pages (from-to)584-591
Number of pages8
JournalNature Genetics
Volume51
Issue number4
DOIs
StatePublished - 1 Apr 2019
Externally publishedYes

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