Journal article

Improving reporting standards for polygenic scores in risk prediction studies

Hannah Wand, Samuel A Lambert, Cecelia Tamburro, Michael A Iacocca, Jack W O'Sullivan, Catherine Sillari, Iftikhar J Kullo, Robb Rowley, Jacqueline S Dron, Deanna Brockman, Eric Venner, Mark I McCarthy, Antonis C Antoniou, Douglas F Easton, Robert A Hegele, Amit V Khera, Nilanjan Chatterjee, Charles Kooperberg, Karen Edwards, Katherine Vlessis Show all

NATURE | NATURE RESEARCH | Published : 2021


Polygenic risk scores (PRSs), which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease risk using genetics. However, there is notable heterogeneity in the application and reporting of these risk scores, which hinders the translation of PRSs into clinical care. Here, in a collaboration between the Clinical Genome Resource (ClinGen) Complex Disease Working Group and the Polygenic Score (PGS) Catalog, we present the Polygenic Risk Score Reporting Standards (PRS-RS), in which we update the Genetic Risk Prediction Studies (GRIPS) Statement to reflect the present state of the fie..

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Awarded by National Human Genome Research Institute (NHGRI)

Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Awarded by NHGRI

Awarded by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Awarded by Wellcome

Awarded by UK Medical Research Council

Awarded by British Heart Foundation

Awarded by Canadian Institutes of Health Research

Funding Acknowledgements

We acknowledge the input of the ClinGen Complex Disease Working Group members, including C. D. Bustamante, M. Meyer, F. Harrell, D. Kent, P. Visscher, T. Assimes, S. Plon and J. Berg. We also thank D. Durham for her editorial support and A. Paolucci for her administrative support in the preparation and submission of this manuscript. ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI), through the following three grants: U41HG006834, U41HG009649 and U41HG009650. ClinGen also receives support for content curation from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), through the following three grants: U24HD093483, U24HD093486 and U24HD093487. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health (NIH). In addition, the views expressed in this article are those of the author(s) and not necessarily those of the National Health Service (NHS), the National Institute for Health Research (NIHR) or the Department of Health. Research reported in this publication was supported by the NHGRI under award number U41HG007823 (EBI-NHGRI GWAS Catalog, PGS Catalog). We also acknowledge funding from the European Molecular Biology Laboratory (EMBL). Individuals were funded from the following sources: M.I.M. was a Wellcome Investigator and an NIHR Senior Investigator with funding from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK; U01-DK105535) and Wellcome (090532, 098381, 106130, 203141 and 212259); M.I. is supported by the Munz Chair of Cardiovascular Prediction and Prevention at the Baker Heart and Diabetes Institute; M.I., S.A.L. and J.N.D. were supported by core funding from: the UK Medical Research Council (MR/L003120/1), the British Heart Foundation (RG/13/13/30194 and RG/18/13/33946) and the NIHR (Cambridge Biomedical Research Centre at the Cambridge University Hospitals NHS Foundation Trust); S.A.L. is supported by a Canadian Institutes of Health Research postdoctoral fellowship (MFE-171279); and J.N.D. holds a British Heart Foundation Personal Chair and a NIH Research Senior Investigator Award. This work was also supported by Health Data Research UK, which is funded by the UK Medical Research Council, Engineering and Physical Sciences Research Council, Economic and Social Research Council, Department of Health and Social Care (England), Chief Scientist Office of the Scottish Government Health and Social Care Directorates, Health and Social Care Research and Development Division (Welsh Government), Public Health Agency (Northern Ireland), British Heart Foundation and Wellcome.