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
  • [21] The use of polygenic risk scores to identify phenotypes associated with genetic risk of schizophrenia: Systematic review
    Mistry, Sumit
    Harrison, Judith R.
    Smith, Daniel J.
    Escott-Price, Valentina
    Zammit, Stanley
    SCHIZOPHRENIA RESEARCH, 2018, 197 : 2 - 8
  • [22] Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments
    Busby, George B.
    Kulm, Scott
    Bolli, Alessandro
    Kintzle, Jen
    Domenico, Paolo Di
    Botta, Giordano
    NATURE COMMUNICATIONS, 2023, 14 (01)
  • [23] Polygenic risk scores: from research tools to clinical instruments
    Cathryn M. Lewis
    Evangelos Vassos
    Genome Medicine, 12
  • [24] Polygenic Scores in Epidemiology: Risk Prediction, Etiology, and Clinical Utility
    Brion S. Maher
    Current Epidemiology Reports, 2015, 2 (4) : 239 - 244
  • [25] Clinical utility of polygenic risk scores: a critical 2023 appraisal
    Sebastian Koch
    Jörg Schmidtke
    Michael Krawczak
    Amke Caliebe
    Journal of Community Genetics, 2023, 14 : 471 - 487
  • [26] 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
  • [27] Association of prescription data with clinical manifestations and polygenic risk scores in patients with bipolar I disorder: An exploratory study
    Park, Young-Min
    Lee, Bun-Hee
    Shekhtman, Tatyana
    Kelsoe, John R.
    JOURNAL OF AFFECTIVE DISORDERS, 2024, 367 : 31 - 37
  • [28] Role of polygenic risk scores in the association between chronotype and health risk behaviors
    Zhang, Yi
    Li, Shuqin
    Xie, Yang
    Xiao, Wan
    Xu, Huiqiong
    Jin, Zhengge
    Li, Ruoyu
    Wan, Yuhui
    Tao, Fangbiao
    BMC PSYCHIATRY, 2023, 23 (01)
  • [29] Polygenic risk scores for dyslipidemia and atherosclerotic cardiovascular disease: Progress toward clinical implementation
    Levin, Michael G.
    Rader, Daniel J.
    BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2023, 37 (03)
  • [30] The emerging molecular architecture of schizophrenia, polygenic risk scores and the clinical implications for GxE research
    Conrad Iyegbe
    Desmond Campbell
    Amy Butler
    Olesya Ajnakina
    Pak Sham
    Social Psychiatry and Psychiatric Epidemiology, 2014, 49 : 169 - 182