Improving reporting standards for polygenic scores in risk prediction studies
Samuel A Lambert,
Michael A Iacocca,
Jack W O'Sullivan,
Iftikhar J Kullo,
Jacqueline S. Dron,
Mark I. McCarthy,
Antonis C. Antoniou,
Douglas F. Easton,
Robert A Hegele,
Amit V Khera,
Katherine R Vlessis,
John N Danesh,
Erin M Ramos,
Megan C Roberts,
Kelly E Ormond,
Muin J Khoury,
A. Cecile JW Janssens,
Katrina AB Goddard,
Jacqueline AL MacArthur,
Genevieve L. Wojcik
Posted 08 May 2020
medRxiv DOI: 10.1101/2020.04.23.20077099
Posted 08 May 2020
Polygenic risk scores (PRS), often aggregating the results from genome-wide association studies, can bridge the gap between the initial discovery efforts and clinical applications for disease risk estimation. However, there is remarkable heterogeneity in the reporting of these risk scores. This lack of adherence to reporting standards hinders 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 the current state of the field and to enable downstream utility. 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 a PRS, especially with respect to any downstream clinical applications. Items span detailed descriptions of the study population (recruitment method, key demographic and clinical characteristics, inclusion/exclusion criteria, and outcome definition), statistical methods for both PRS development and validation, and considerations for potential limitations of the published risk score and downstream clinical utility. Additionally, emphasis has been placed on data availability and transparency to facilitate reproducibility and benchmarking against other PRS, such as deposition in the publicly available PGS Catalog. 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 of PRS into clinical care and progress towards defining best practices.
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