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Martin AR, Kanai M, Kamatani Y, et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019;51(4):584-591doi: 10.1038/s41588-019-0379-x.
Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2019). Clinical use of current polygenic risk scores may exacerbate health disparities. Nature genetics, 51(4), 584-591. https://doi.org/10.1038/s41588-019-0379-x
Martin, Alicia R, et al. "Clinical use of current polygenic risk scores may exacerbate health disparities." Nature genetics vol. 51,4 (2019): 584-591. doi: https://doi.org/10.1038/s41588-019-0379-x
Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, Daly MJ. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019 Apr;51(4):584-591. doi: 10.1038/s41588-019-0379-x. Epub 2019 Mar 29. PMID: 30926966; PMCID: PMC6563838.
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Nat Genet. 2019 Apr;51(4):584-591. doi: 10.1038/s41588-019-0379-x. Epub 2019 Mar 29.

Clinical use of current polygenic risk scores may exacerbate health disparities.

Nature genetics

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

Affiliations

  1. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. [email protected].
  2. Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. [email protected].
  3. Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA. [email protected].
  4. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  5. Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  6. Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  7. Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
  8. Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
  9. Kyoto-McGill International Collaborative School in Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  10. Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
  11. Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan.
  12. Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.

PMID: 30926966 PMCID: PMC6563838 DOI: 10.1038/s41588-019-0379-x

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.

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