Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.
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Authors
Polygenic Risk Score Task Force of the International Common Disease Alliance
Publication Date
2021-11Journal Title
Nature Medicine
ISSN
1078-8956
Publisher
Nature Research
Volume
27
Issue
11
Pages
1876-1884
Type
Article
This Version
AM
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
Polygenic Risk Score Task Force of the International Common Disease Alliance. (2021). Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.. Nature Medicine, 27 (11), 1876-1884. https://doi.org/10.1038/s41591-021-01549-6
Abstract
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human genome to estimate the risk of a disease or disease-related trait for an individual. The potential benefits of PRSs include cost-effective enhancement of primary disease prevention, more refined diagnoses and improved precision when prescribing medicines. However, these must be weighed against the potential risks, such as uncertainties and biases in PRS performance, as well as potential misunderstanding and misuse of these within medical practice and in wider society. By addressing key issues including gaps in best practices, risk communication and regulatory frameworks, PRSs can be used responsibly to improve human health. Here, the International Common Disease Alliance's PRS Task Force, a multidisciplinary group comprising expertise in genetics, law, ethics, behavioral science and more, highlights recent research to provide a comprehensive summary of the state of polygenic score research, as well as the needs and challenges as PRSs move closer to widespread use in the clinic.
Keywords
Alleles, Data Collection, Disease Progression, Genetic Predisposition to Disease, Genome, Human, Humans, Multifactorial Inheritance, Phenotype, Recurrence, Risk Factors
Sponsorship
European Commission Horizon 2020 (H2020) Societal Challenges (101016775)
Medical Research Council (MR/L003120/1)
British Heart Foundation (RG/18/13/33946)
British Heart Foundation (None)
ESRC (ES/T013192/1)
Identifiers
External DOI: https://doi.org/10.1038/s41591-021-01549-6
This record's URL: https://www.repository.cam.ac.uk/handle/1810/332824
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