Polygenic risk scores in the clinic: Translating risk into action COMMENT

被引:34
|
作者
Lewis, Anna C. F. [1 ,2 ]
Green, Robert C. [3 ]
Vassy, Jason L. [4 ,5 ]
机构
[1] Harvard Univ, EJ Safra Ctr Eth, Boston, MA 02115 USA
[2] Harvard Med Sch, Ctr Bioeth, Boston, MA 02115 USA
[3] Harvard Med Sch, Mass Gen Brigham, Broad Inst, Ariadne Labs, Boston, MA 02115 USA
[4] Harvard Med Sch, VA Boston Healthcare Syst, Boston, MA 02115 USA
[5] Harvard Med Sch, Dept Med, Boston, MA 02115 USA
来源
HUMAN GENETICS AND GENOMICS ADVANCES | 2021年 / 2卷 / 04期
关键词
PERFORMANCE; PREDICTION; MODEL;
D O I
10.1016/j.xhgg.2021.100047
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Polygenic risk scores (PRSs) are heralded as useful tools for risk stratification and personalized preventive care, but they are clinically useful only if they can be translated into action. The risk information conveyed by a PRS must be contextualized to enable this. Best practices are evolving but are likely to involve integrating a PRS into an absolute risk model and using guideline-driven care linked to a specific threshold of risk. Because this approach is not currently available for most diseases, it may be necessary to use different methods of presenting risk and linking it to appropriate clinical action. We discuss the trade-offs of each strategy and argue for transparent communication to providers and patients of the imprecision in both risk estimates and action thresholds for PRSs.
引用
收藏
页数:6
相关论文
共 50 条
  • [31] Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis
    He, Qin
    Mam-Lam-Fook, Celia Jantac
    Chaignaud, Julie
    Danset-Alexandre, Charlotte
    Iftimovici, Anton
    Hauguel, Johanna Gradels
    Houle, Gabrielle
    Liao, Calwing
    Dion, Patrick A.
    Rouleau, Guy A.
    Kebir, Oussama
    Krebs, Marie-Odile
    Chaumette, Boris
    TRANSLATIONAL PSYCHIATRY, 2021, 11 (01)
  • [32] Polygenic Risk Scores: The Next Step for Improved Risk Stratification in Coronary Artery Disease?
    Stein, Ricardo
    Ferrari, Filipe
    Garcia-Giustiniani, Diego
    ARQUIVOS BRASILEIROS DE CARDIOLOGIA, 2024, 121 (09)
  • [33] Genome-wide polygenic risk scores predict risk of glioma and molecular subtypes
    Nakase, Taishi
    Guerra, Geno A.
    Ostrom, Quinn T.
    Ge, Tian
    Melin, Beatrice S.
    Wrensch, Margaret
    Wiencke, John K.
    Jenkins, Robert B.
    Eckel-Passow, Jeanette E.
    Bondy, Melissa L.
    Francis, Stephen S.
    Kachuri, Linda
    NEURO-ONCOLOGY, 2024, 26 (10) : 1933 - 1944
  • [34] Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions
    Fatumo, Segun
    Sathan, Dassen
    Samtal, Chaimae
    Isewon, Itunuoluwa
    Tamuhla, Tsaone
    Soremekun, Chisom
    Jafali, James
    Panji, Sumir
    Tiffin, Nicki
    Fakim, Yasmina Jaufeerally
    GENOME MEDICINE, 2023, 15 (01)
  • [35] Cases in Precision Medicine: The Role of Polygenic Risk Scores in Breast Cancer Risk Assessment
    Zeinomar, Nur
    Chung, Wendy K.
    ANNALS OF INTERNAL MEDICINE, 2021, 174 (03) : 408 - +
  • [36] FairPRS: adjusting for admixed populations in polygenic risk scores using invariant risk minimization
    Reyes, Diego Machado
    Bose, Aritra
    Karavani, Ehud
    Parida, Laxmi
    BIOCOMPUTING 2023, PSB 2023, 2023, : 198 - 208
  • [37] Optimizing and benchmarking polygenic risk scores with GWAS summary statistics
    Zhao, Zijie
    Gruenloh, Tim
    Yan, Meiyi
    Wu, Yixuan
    Sun, Zhongxuan
    Miao, Jiacheng
    Wu, Yuchang
    Song, Jie
    Lu, Qiongshi
    GENOME BIOLOGY, 2024, 25 (01):
  • [38] Polygenic Risk Scores in Coronary Artery Disease and Atrial Fibrillation
    Gladding, Patrick A.
    Legget, Malcolm
    Fatkin, Diane
    Larsen, Peter
    Doughty, Robert
    HEART LUNG AND CIRCULATION, 2020, 29 (04): : 634 - 640
  • [39] Polygenic risk scores: from research tools to clinical instruments
    Lewis, Cathryn M.
    Vassos, Evangelos
    GENOME MEDICINE, 2020, 12 (01)
  • [40] Ethnic disparities in fracture risk assessment using polygenic scores
    Xiao, Xiangxue
    Wu, Qing
    OSTEOPOROSIS INTERNATIONAL, 2023, 34 (05) : 943 - 953