Avera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA.
Department of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
Hum Genomics. 2021 Jul 20;15(1):46. doi: 10.1186/s40246-021-00339-y.
Increasing amounts of genetic data have led to the development of polygenic risk scores (PRSs) for a variety of diseases. These scores, built from the summary statistics of genome-wide association studies (GWASs), are able to stratify individuals based on their genetic risk of developing various common diseases and could potentially be used to optimize the use of screening and preventative treatments and improve personalized care for patients. Many challenges are yet to be overcome, including PRS validation, healthcare professional and patient education, and healthcare systems integration. Ethical challenges are also present in how this information is used and the current lack of diverse populations with PRSs available. In this review, we discuss the topics above and cover the nature of PRSs, visualization schemes, and how PRSs can be improved. With these tools on the horizon for multiple diseases, scientists, clinicians, health systems, regulatory bodies, and the public should discuss the uses, benefits, and potential risks of PRSs.
越来越多的遗传数据导致了多种疾病的多基因风险评分(PRSs)的发展。这些评分是基于全基因组关联研究(GWAS)的汇总统计数据构建的,能够根据个体的遗传风险对其进行分层,以确定他们患上各种常见疾病的风险,并且可能有助于优化筛查和预防治疗的使用,改善患者的个性化护理。但仍有许多挑战需要克服,包括 PRS 的验证、医疗保健专业人员和患者的教育,以及医疗保健系统的整合。在使用这些信息方面也存在伦理挑战,以及目前缺乏具有 PRS 的多样化人群。在这篇综述中,我们讨论了上述主题,并涵盖了 PRS 的性质、可视化方案,以及如何改进 PRS。随着这些工具在多种疾病中的应用,科学家、临床医生、医疗保健系统、监管机构和公众应该讨论 PRS 的用途、益处和潜在风险。
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