Clinical use of current polygenic risk scores may exacerbate health disparities

被引:1494
|
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] ExPRSweb: An online repository with polygenic risk scores for common health-related exposures
    Ma, Ying
    Patil, Snehal
    Zhou, Xiang
    Mukherjee, Bhramar
    Fritsche, Lars G.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2022, 109 (10) : 1742 - 1760
  • [32] Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk Clinical Perspectives and Basic Implications
    Aragam, Krishna G.
    Natarajan, Pradeep
    CIRCULATION RESEARCH, 2020, 126 (09) : 1159 - 1177
  • [33] Evaluating risk for alcohol use disorder: Polygenic risk scores and family history
    Lai, Dongbing
    Johnson, Emma C.
    Colbert, Sarah
    Pandey, Gayathri
    Chan, Grace
    Bauer, Lance
    Francis, Meredith W.
    Hesselbrock, Victor
    Kamarajan, Chella
    Kramer, John
    Kuang, Weipeng
    Kuo, Sally
    Kuperman, Samuel
    Liu, Yunlong
    McCutcheon, Vivia
    Pang, Zhiping
    Plawecki, Martin H.
    Schuckit, Marc
    Tischfield, Jay
    Wetherill, Leah
    Zang, Yong
    Edenberg, Howard J.
    Porjesz, Bernice
    Agrawal, Arpana
    Foroud, Tatiana
    ALCOHOL-CLINICAL AND EXPERIMENTAL RESEARCH, 2022, 46 (03): : 374 - 383
  • [34] Using polygenic scores for identifying individuals at increased risk of substance use disorders in clinical and population samples
    Barr, Peter B.
    Ksinan, Albert
    Su, Jinni
    Johnson, Emma C.
    Meyers, Jacquelyn L.
    Wetherill, Leah
    Latvala, Antti
    Aliev, Fazil
    Chan, Grace
    Kuperman, Samuel
    Nurnberger, John
    Kamarajan, Chella
    Anokhin, Andrey
    Agrawal, Arpana
    Rose, Richard J.
    Edenberg, Howard J.
    Schuckit, Marc
    Kaprio, Jaakko
    Dick, Danielle M.
    TRANSLATIONAL PSYCHIATRY, 2020, 10 (01)
  • [35] Use of polygenic risk scores of nicotine metabolism in predicting smoking behaviors
    Chen, Li-Shiun
    Hartz, Sarah M.
    Baker, Timothy B.
    Ma, Yinjiao
    L Saccone, Nancy
    Bierut, Laura J.
    PHARMACOGENOMICS, 2018, 19 (18) : 1383 - 1394
  • [36] Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease
    Schunkert, Heribert
    Di Angelantonio, Emanuele
    Inouye, Michael
    Patel, Riyaz S.
    Ripatti, Samuli
    Widen, Elisabeth
    Sanderson, Saskia C.
    Kaski, Juan Pablo
    Mcevoy, John W.
    Vardas, Panos
    Wood, Angela
    Aboyans, Victor
    Vassiliou, Vassilios S.
    Visseren, Frank L. J.
    Lopes, Luis R.
    Elliott, Perry
    Kavousi, Maryam
    EUROPEAN HEART JOURNAL, 2025,
  • [37] From Basic Science to Clinical Application of Polygenic Risk Scores A Primer
    Wray, Naomi R.
    Lin, Tian
    Austin, Jehannine
    McGrath, John J.
    Hickie, Ian B.
    Murray, Graham K.
    Visscher, Peter M.
    JAMA PSYCHIATRY, 2021, 78 (01) : 101 - 109
  • [38] The use of polygenic risk scores to identify phenotypes associated with genetic risk of bipolar disorder and depression: A systematic review
    Mistry, Sumit
    Harrison, Judith R.
    Smith, Daniel J.
    Escott-Price, Valentina
    Zammit, Stanley
    JOURNAL OF AFFECTIVE DISORDERS, 2018, 234 : 148 - 155
  • [39] Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review
    Phulka, Jobanjit S.
    Ashraf, Mishal
    Bajwa, Beenu K.
    Pare, Guillaume
    Laksman, Zachary
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2023, 16 (03): : 286 - 313
  • [40] Gene-based polygenic risk scores analysis of alcohol use disorder in African Americans
    Lai, Dongbing
    Schwantes-An, Tae-Hwi
    Abreu, Marco
    Chan, Grace
    Hesselbrock, Victor
    Kamarajan, Chella
    Liu, Yunlong
    Meyers, Jacquelyn L.
    Nurnberger, John I. Jr Jr
    Plawecki, Martin H.
    Wetherill, Leah
    Schuckit, Marc
    Zhang, Pengyue
    Edenberg, Howard J.
    Porjesz, Bernice
    Agrawal, Arpana
    Foroud, Tatiana
    TRANSLATIONAL PSYCHIATRY, 2022, 12 (01)