Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
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DOI：
10.1038/s41591-021-01549-6
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发表时间：
2021-11-15
期刊：
影响因子：
82.9
通讯作者：
Zhou, Alicia
中科院分区：
文献类型：
--
作者：
Adeyemo, Adebowale;Balaconis, Mary K.;Zhou, Alicia
多基因风险评分（PRSs）汇集了人类基因组中等位基因的许多小影响，以估计个体患疾病或疾病相关特征的风险。prs的潜在好处包括提高初级疾病预防的成本效益，更精确的诊断和提高处方的准确性。然而，这些必须与潜在的风险进行权衡，例如减贫计划执行中的不确定性和偏见，以及在医疗实践和更广泛的社会中对这些潜在的误解和滥用。通过解决关键问题，包括最佳做法、风险沟通和监管框架方面的差距，可以负责任地利用减贫战略来改善人类健康。在这里，由遗传学、法律、伦理学、行为科学等多学科专家组成的国际常见病联盟PRS工作组重点介绍了最近的研究，提供了多基因评分研究状况的全面总结，以及随着PRS在临床中更接近广泛使用的需求和挑战。随着多基因风险评分接近广泛的临床应用，本展望总结了益处、风险和需要克服的挑战。
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human genome to estimate the risk of a disease or disease-related trait for an individual. The potential benefits of PRSs include cost-effective enhancement of primary disease prevention, more refined diagnoses and improved precision when prescribing medicines. However, these must be weighed against the potential risks, such as uncertainties and biases in PRS performance, as well as potential misunderstanding and misuse of these within medical practice and in wider society. By addressing key issues including gaps in best practices, risk communication and regulatory frameworks, PRSs can be used responsibly to improve human health. Here, the International Common Disease Alliance's PRS Task Force, a multidisciplinary group comprising expertise in genetics, law, ethics, behavioral science and more, highlights recent research to provide a comprehensive summary of the state of polygenic score research, as well as the needs and challenges as PRSs move closer to widespread use in the clinic.As polygenic risk scores move closer to widespread clinical use, this Perspective summarizes the benefits, risks and challenges to be overcome.