Improving reporting standards for polygenic scores in risk prediction studies.
Improving reporting standards for polygenic scores in risk prediction studies.
复制标题
DOI：
10.1038/s41586-021-03243-6
复制
发表时间：
2021-03
期刊：
影响因子：
64.8
通讯作者：
Wojcik GL
中科院分区：
文献类型：
--
作者：
Wand H;Lambert SA;Tamburro C;Iacocca MA;O'Sullivan JW;Sillari C;Kullo IJ;Rowley R;Dron JS;Brockman D;Venner E;McCarthy MI;Antoniou AC;Easton DF;Hegele RA;Khera AV;Chatterjee N;Kooperberg C;Edwards K;Vlessis K;Kinnear K;Danesh JN;Parkinson H;Ramos EM;Roberts MC;Ormond KE;Khoury MJ;Janssens ACJW;Goddard KAB;Kraft P;MacArthur JAL;Inouye M;Wojcik GL
多基因风险评分（PRS）通常汇总全基因组关联研究的结果，可以弥合最初的发现努力和使用遗传学进行疾病风险估计的临床应用之间的差距。然而，这些风险评分的应用和报告存在显著的异质性，阻碍了PRS转化为临床护理。ClinGen复杂疾病工作组与多基因评分（PGS）目录合作，更新了遗传风险预测（grip）报告声明，以反映该领域的现状。利用流行病学、统计学、特定疾病应用、实施和政策方面的专家，这个22项报告框架定义了解释和评估PRS所需的最少信息，特别是关于下游临床应用的信息。项目包括研究人群的详细描述，PRS开发和验证的统计方法，以及对PRS潜在局限性的考虑。此外，我们强调数据可用性和透明度的必要性，鼓励研究人员通过PGS目录存储和共享PRS，以促进可重复性和比较基准。通过在现有标准和本体的基础上以结构化格式提供这些标准，在发布PRS时使用该框架将有助于将其转化为临床护理，并朝着定义最佳实践的方向发展。
Polygenic risk scores (PRS), often aggregating results from genome-wide association studies, can bridge the gap between the initial discovery efforts and clinical applications for disease risk estimation using genetics. However, there is remarkable heterogeneity in the application and reporting of these risk scores, hindering the translation of PRS into clinical care. The ClinGen Complex Disease Working Group, in a collaboration with the Polygenic Score (PGS) Catalog, have updated the Genetic Risk Prediction (GRIPS) Reporting Statement to reflect the current state of the field. Drawing upon experts in epidemiology, statistics, disease-specific applications, implementation, and policy, this 22-item reporting framework defines the minimal information needed to interpret and evaluate PRS, especially with respect to downstream clinical applications. Items span detailed descriptions of study populations, statistical methods for PRS development and validation, and considerations for potential limitations of the PRS. Additionally, we emphasize the need for data availability and transparency, encouraging researchers to deposit and share PRS via the PGS Catalog to facilitate reproducibility and comparative benchmarking. By providing these criteria in a structured format that builds upon existing standards and ontologies, the use of this framework in publishing PRS will facilitate translation into clinical care and progress towards defining best practices.
登录
查看更多内容
DOI：
10.1093/jnci/djw302
发表时间：
2017-07-01
期刊：
Journal of the National Cancer Institute
影响因子：
--
作者：
Kuchenbaecker KB;McGuffog L;Barrowdale D;Lee A;Soucy P;Dennis J;Domchek SM;Robson M;Spurdle AB;Ramus SJ;Mavaddat N;Terry MB;Neuhausen SL;Schmutzler RK;Simard J;Pharoah PDP;Offit K;Couch FJ;Chenevix-Trench G;Easton DF;Antoniou AC
通讯作者：
Antoniou AC
影响因子：
14.9
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
通讯作者：
Parkinson, Helen
影响因子：
9.2
作者：
Choi, Shing Wan;O'Reilly, Paul F.
通讯作者：
O'Reilly, Paul F.
影响因子：
28.4
作者：
Huo D;Hu H;Rhie SK;Gamazon ER;Cherniack AD;Liu J;Yoshimatsu TF;Pitt JJ;Hoadley KA;Troester M;Ru Y;Lichtenberg T;Sturtz LA;Shelley CS;Benz CC;Mills GB;Laird PW;Shriver CD;Perou CM;Olopade OI
通讯作者：
Olopade OI
影响因子：
7.2
作者：
Collins, Gary S.;Reitsma, Johannes B.;Moons, Karel G. M.
通讯作者：
Moons, Karel G. M.