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用于预测心血管疾病的多基因风险评分的临床效用与应用:欧洲心脏病学会心血管基因组学委员会、欧洲心脏病学会心血管风险协作组及欧洲预防心脏病学协会的临床共识声明

Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease: A clinical consensus statement of the ESC Council on Cardiovascular Genomics, the ESC Cardiovascular Risk Collaboration, and the European Association of Preventive Cardiology.

作者信息

Schunkert Heribert, Di Angelantonio Emanuele, Inouye Michael, Patel Riyaz S, Ripatti Samuli, Widen Elisabeth, Sanderson Saskia C, Kaski Juan Pablo, McEvoy John W, Vardas Panos, Wood Angela, Aboyans Victor, Vassiliou Vassilios S, Visseren Frank L J, Lopes Luis R, Elliott Perry, Kavousi Maryam

机构信息

Department of Cardiology, Deutsches Herzzentrum München, Universitätsklinikum der Technischen Universität München, 80636 Munich, Lazarettstrasse 36, Germany.

Deutsches Zentrum für Herz- und Kreislauferkrankungen (DZHK), Partner Site Munich Heart Alliance, Munich, Germany.

出版信息

Eur Heart J. 2025 Apr 15;46(15):1372-1383. doi: 10.1093/eurheartj/ehae649.

Abstract

Genome-wide association studies have revealed hundreds of genetic variants associated with cardiovascular diseases (CVD). Polygenic risk scores (PRS) can capture this information in a single metric and hold promise for use in CVD risk prediction. Importantly, PRS information can reflect the causally mediated risk to which the individual is exposed throughout life. Although European Society of Cardiology guidelines do not currently advocate their use in routine clinical practice, PRS are commercially available and increasingly sought by clinicians, health systems, and members of the public to inform personalized health care decision-making. This clinical consensus statement provides an overview of the scientific basis of PRS and evidence to date on their role in CVD risk prediction for the purposes of disease prevention. It provides the reader with a summary of the opportunities and challenges for implementation and identifies current gaps in supporting evidence. The document also lays out a potential roadmap by which the scientific and clinical community can navigate any future transition of PRS into routine clinical care. Finally, clinical scenarios are presented where information from PRS may hold most value and discuss organizational frameworks to enable responsible use of PRS testing while more evidence is being generated by clinical studies.

摘要

全基因组关联研究已经揭示了数百种与心血管疾病(CVD)相关的基因变异。多基因风险评分(PRS)可以将这些信息整合为一个单一指标,并有望用于CVD风险预测。重要的是,PRS信息可以反映个体一生中所面临的因果介导风险。尽管欧洲心脏病学会指南目前不提倡在常规临床实践中使用PRS,但PRS已商业化提供,并且越来越受到临床医生、卫生系统和公众的青睐,以指导个性化医疗决策。本临床共识声明概述了PRS的科学基础以及迄今为止关于其在疾病预防的CVD风险预测中作用的证据。它为读者总结了实施PRS的机遇和挑战,并确定了支持证据方面目前存在的差距。该文件还制定了一个潜在的路线图,通过该路线图,科学界和临床界可以应对PRS未来向常规临床护理转变的任何情况。最后,介绍了PRS信息可能最具价值的临床场景,并讨论了组织框架,以便在临床研究产生更多证据的同时,能够负责任地使用PRS检测。

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