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Current clinical use of polygenic scores will risk exacerbating health disparities

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

Posted 11 Oct 2018
bioRxiv DOI: 10.1101/441261 (published DOI: 10.1038/s41588-019-0379-x)

Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision medicine. However, the major ethical and scientific challenge surrounding clinical implementation is that they are many-fold more accurate in European ancestry individuals than others. This disparity is an inescapable consequence of Eurocentric genome-wide association study biases. This highlights 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 to European descent populations. Early diversifying efforts show promise in levelling 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, we must prioritize greater diversity in genetic studies and public dissemination of summary statistics to ensure that health disparities are not increased for those already most underserved.

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