Clinical use of current polygenic risk scores may exacerbate health disparities

被引:1489
|
作者
Martin, Alicia R. [1 ,2 ,3 ]
Kanai, Masahiro [1 ,2 ,3 ,4 ,5 ]
Kamatani, Yoichiro [5 ,6 ]
Okada, Yukinori [5 ,7 ,8 ]
Neale, Benjamin M. [1 ,2 ,3 ]
Daly, Mark J. [1 ,2 ,3 ,9 ]
机构
[1] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
[2] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA
[3] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA
[4] Harvard Med Sch, Dept Biomed Informat, Boston, MA 02115 USA
[5] RIKEN, Lab Stat Anal, Ctr Integrat Med Sci, Yokohama, Kanagawa, Japan
[6] Kyoto Univ, Kyoto McGill Int Collaborat Sch Genom Med, Grad Sch Med, Kyoto, Japan
[7] Osaka Univ, Dept Stat Genet, Grad Sch Med, Suita, Osaka, Japan
[8] Osaka Univ, Immunol Frontier Res Ctr WPI IFReC, Lab Stat Immunol, Suita, Osaka, Japan
[9] Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland
基金
美国国家卫生研究院;
关键词
GENOME-WIDE ASSOCIATION; INFLAMMATORY-BOWEL-DISEASE; GENETIC RISK; SUSCEPTIBILITY LOCI; ANCESTRY; ARCHITECTURE; CANCER; SCHIZOPHRENIA; PREDICTION; PATTERNS;
D O I
10.1038/s41588-019-0379-x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:584 / 591
页数:8
相关论文
共 50 条
  • [31] Bacterial vaginosis testing gaps for transmasculine patients may exacerbate health disparities
    Thompson, Hale M.
    Rusie, Laura K.
    Schneider, John A.
    Mehta, Supriya D.
    FRONTIERS IN REPRODUCTIVE HEALTH, 2024, 6
  • [32] Electronic health records and polygenic risk scores for predicting disease risk
    Li, Ruowang
    Chen, Yong
    Ritchie, Marylyn D.
    Moore, Jason H.
    NATURE REVIEWS GENETICS, 2020, 21 (08) : 493 - 502
  • [33] Polygenic risk scores for smoking: predictors for alcohol and cannabis use?
    Vink, Jacqueline M.
    Hottenga, Jouke Jan
    de Geus, Eco J. C.
    Willemsen, Gonneke
    Neale, Michael C.
    Furberg, Helena
    Boomsma, Dorret I.
    ADDICTION, 2014, 109 (07) : 1141 - 1151
  • [34] Alternative polygenic forms of Inflammatory Bowel Disease are not captured by current generations of polygenic risk scores
    Alibert, L.
    Betton, L.
    Falcoz, A.
    Manceau, G.
    Benoist, S.
    Zerbib, P.
    Podevin, J.
    Maggiori, L.
    Brouquet, A.
    Tyrode, G.
    Vuitton, L.
    Vernerey, D.
    Lefevre, J.
    Lakkis, Z.
    JOURNAL OF CROHNS & COLITIS, 2023, 17 : I155 - I156
  • [35] Polygenic risk scores: from research tools to clinical instruments
    Lewis, Cathryn M.
    Vassos, Evangelos
    GENOME MEDICINE, 2020, 12 (01)
  • [36] Clinical utility of polygenic risk scores for coronary artery disease
    Derek Klarin
    Pradeep Natarajan
    Nature Reviews Cardiology, 2022, 19 : 291 - 301
  • [37] The clinical utility of polygenic risk scores for chronic lymphocytic leukemia
    Sud, Amit
    Law, Philip J.
    Houlston, Richard S.
    LEUKEMIA, 2021, 35 (12) : 3608 - 3610
  • [38] The clinical utility of polygenic risk scores for chronic lymphocytic leukemia
    Amit Sud
    Philip J. Law
    Richard S. Houlston
    Leukemia, 2021, 35 : 3608 - 3610
  • [39] Clinical utility of polygenic risk scores for predicting NAFLD disorders
    Dessein, Alain
    JOURNAL OF HEPATOLOGY, 2021, 74 (04) : 769 - 770
  • [40] Polygenic Scores in Epidemiology: Risk Prediction, Etiology, and Clinical Utility
    Brion S. Maher
    Current Epidemiology Reports, 2015, 2 (4) : 239 - 244