Roberts Megan C, Khoury Muin J, Mensah George A
Eshelman School of Pharmacy at University of North Carolina, Chapel Hill, NC.
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA.
Ethn Dis. 2019 Jul 18;29(3):513-516. doi: 10.18865/ed.29.3.513. eCollection 2019 Summer.
Polygenic risk scores (PRS) are an emerging precision medicine tool based on multiple gene variants that, taken alone, have weak associations with disease risks, but collectively may enhance disease predictive value in the population. However, the benefit of PRS may not be equal among non-European populations, as they are under-represented in genome-wide association studies (GWAS) that serve as the basis for PRS development. In this perspective, we discuss a path forward, which includes: 1) inclusion of underrepresented populations in PRS research; 2) global efforts to build capacity for genomic research; 3) equitable implementation of these tools in clinical practice; and 4) traditional public health approaches to reduce risk of adverse health outcomes as an important component to precision health. As precision medicine is implemented in clinical care, researchers must ensure that advances from PRS research will benefit all.
多基因风险评分（PRS）是一种新兴的精准医学工具，它基于多个基因变异，这些基因变异单独来看与疾病风险的关联较弱，但总体上可能会提高人群中疾病的预测价值。然而，PRS的益处可能在非欧洲人群中并不均等，因为在作为PRS开发基础的全基因组关联研究（GWAS）中，非欧洲人群的代表性不足。从这个角度出发，我们讨论了一条前进的道路，其中包括：1）将代表性不足的人群纳入PRS研究；2）全球范围内努力建设基因组研究能力；3）在临床实践中公平地应用这些工具；4）采用传统公共卫生方法降低不良健康结局的风险，作为精准健康的一个重要组成部分。随着精准医学在临床护理中的实施，研究人员必须确保PRS研究的进展将使所有人受益。
