Cited by 413Genetic Associations and EpidemiologyRace, Genetics, and SocietyGenomics and Rare Diseases

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Open access
Polygenic Risk Score Task Force of the International Common Disease Alliance, Adeyemo, Adebowale, Balaconis, Mary K., Darnes, Deanna R., Fatumo, Segun, Granados Moreno, Palmira, Hodonsky, Chani J., Inouye, Michael +19 more·2021·Nature Medicine

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1038/s41591-021-01549-6

Cites

100 of 100 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 1

  1. Center for research on Genomics and Global Health, National Human Genome research Institute, NIH, bethesda, mD, USA. 2 broad Institute of Harvard and mIT, Cambridge, mA, USA. 3 Genetic Counselling Services, Fetal Care Center Dallas, Dallas, TX, USA. 4 London School of Hygiene and Tropical medicine, London, UK. 5 Uganda medical Informatics Centre (UmIC), mrC/UVrI and LSHTm (Uganda research Unit), entebbe, Uganda.

Cited by

Sorted by citations

Authors
Polygenic Risk Score Task Force of the International Common Disease Alliance, Adeyemo, A., Balaconis, M. K., Darnes, D. R., Fatumo, S., Granados Moreno, P., Hodonsky, C. J., Inouye, M., Kanai, M., Kato, K., Knoppers, B. M., Lewis, A. C. F., Martin, A. R., McCarthy, M. I., Meyer, M. N., Okada, Y., Richards, J. B., Richter, L., Ripatti, S., Rotimi, C. N., Sanderson, S. C., Sturm, A. C., Verdugo, R. A., Widen, E., Willer, C. J., Wojcik, G. L., & Zhou, A.
Affiliations
  • National Institutes of Health (US)
  • Broad Institute (US)
  • London School of Hygiene & Tropical Medicine (GB)
  • University of Cambridge (GB)
  • Massachusetts General Hospital (US)
  • McGill University (CA)
  • Harvard University (US)
  • Genentech (US)
  • Geisinger Health System (US)
  • Jewish General Hospital (CA)
  • Vanderbilt University (US)
  • PHG Foundation (GB)
  • University of Helsinki (FI)
  • Johns Hopkins University (US)
  • Color (United States) (US)
Corresponding author
  • Inouye, Michael
  • Willer, Cristen J.
Venue
Nature Medicine
Published
2021-11
Volume
27
Issue
11
Pages
1876-1884
ISSN
  • 1078-8956 (ISSN-L)
  • 1546-170X
OpenAlex
W3217131706
Cited by
413
References
100
Citations by year
2026: 41 · 2025: 80 · 2024: 100 · 2023: 87 · 2022: 104 · 2021: 1
FWCI
10.86
Type
journal article
Language
en
Open access
Locations
  • Nature Medicine (publishedVersion)
  • PubMed (publishedVersion)
  • Universidad de Chile (submittedVersion, cc-by-nc-nd)
  • Apollo (University of Cambridge) (submittedVersion)
  • Apollo
Funders
British Heart Foundation (RG/12/12/30194)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
polygenic risk score, clinical implementation, disease prevention, precision medicine, risk communication, regulatory framework, genetic risk prediction, best practices
MeSH terms
Alleles, Data Collection, Humans, Phenotype, Recurrence, Risk Factors, Genome, Human, Disease Progression, Genetic Predisposition to Disease, Multifactorial Inheritance

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review