Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease

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.

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Publication Details

Journal
European Heart Journal
Published
2024-09-20
DOI
https://doi.org/10.1093/eurheartj/ehae649
Citations
53
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
29.17

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article

Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease

Elisabeth Widén, Angela Wood, Perry Elliott, Heribert Schunkert et al.
53 citations
European Heart Journal
Genetic Associations and Epidemiology
29.17
article

Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease

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

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.

European Heart JournalVol. 46(15)
Broad Institute (US), University of East Anglia (GB), St Bartholomew's Hospital (GB), NHS Blood and Transplant (GB), University of Helsinki (FI), Baker Heart and Diabetes Institute (AU), University of Crete (GR), Inserm (FR), King's College London (GB), Ollscoil na Gaillimhe – University of Galway (IE), University of Cambridge (GB), Norfolk and Norwich University Hospital (GB), Great Ormond Street Hospital (GB), Erasmus MC (NL), University Medical Center Utrecht (NL), Victor (Japan) (JP), European Society of Cardiology (FR), National Institute for Health and Care Research (GB), Massachusetts General Hospital (US), Bridge University (SS), Human Technopole (IT), PHG Foundation (GB), German Centre for Cardiovascular Research (DE), Institute for Molecular Medicine Finland (FI), Health Data Research UK (GB), Deutsches Herzzentrum München (DE), Genomics (United Kingdom) (GB), Addenbrooke's Hospital (GB), Hôpital Dupuytren (FR), Artificial Intelligence in Medicine (Canada) (CA), University College London (GB), Université de Limoges (FR)
Wellcome, Scottish Government, National Institute for Health and Care Research, British Heart Foundation, Department of Health and Social Care, Public Health Agency, Chief Scientist Office, Scottish Government Health and Social Care Directorate, Medical Research Council, Engineering and Physical Sciences Research Council, Economic and Social Research Council, Health and Social Care Research and Development Division, NIHR Cambridge Biomedical Research Centre
Peace, Justice and strong institutions
Openalex Percentile: Top 0%
Genetic Associations and Epidemiology
29.17
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