Clinical use of current polygenic risk scores may exacerbate health disparities

被引:1613
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
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