ReviewNature medicine2021
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.
Review in Nature medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 212 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
212 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Associations Between Polygenic Risk Score for Blood Pressure and Risk of Hypertension in Northeast Asian Individuals.Journal of the American Heart Association · 2026Pooled it
- Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.Nature genetics · 2025Pooled it
- Systematic review: risk prediction models for metachronous advanced colorectal neoplasia after polypectomy.Journal of gastroenterology and hepatology · 2024Pooled it
- "For and against" factors influencing participation in personalized breast cancer screening programs: a qualitative systematic review until March 2022.Archives of public health = Archives belges de sante publique · 2024Pooled it
- Glaucoma Genetic Risk Scores in the Million Veteran Program.Ophthalmology · 2022Pooled it
- Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- Polygenic Risk Scores disclosure for cardiovascular prevention: Protocol of the Personalized HeartCare (PHC) trial.PloS one · 2026Trial
- Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.HGG advances · 2026Article
- Role of Polygenic Risk Scores in Predicting Cognitive Functioning after Mild Traumatic Brain Injury: A TRACK-TBI Study.Journal of neurotrauma · 2026Article
- The psychosocial impact of receiving a polygenic risk score informing risk of prostate cancer.Hereditary cancer in clinical practice · 2026Article
- The Multiethnic Cohort: A Resource for the Study of Genetic and Nongenetic Cancer Risk across Populations.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Polygenic risk scores in clinical applications - opportunities and challenges.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Are polygenic scores for psychiatric and substance use outcomes "ready" for clinical application? Current state and next steps.Psychiatric genetics · 2026Review
- Characterizing the Uncertainty, Misclassification and Inconsistency of Polygenic Prediction.medRxiv : the preprint server for health sciences · 2026Article
- Data-driven subgroups for 3-year risk stratification of incident diabetes and complications in diabetes-free Chinese adults.Chinese medical journal · 2026Article
- Admixture-informed polygenic risk reporting using the ePRS framework.Nature communications · 2026Article
- Salutogenomics: embracing the full spectrum of human health.Trends in genetics : TIG · 2026Review
- Health care providers' perceptions of screening for risk of type 1 diabetes in newborns using genetic risk scores.Journal of community genetics · 2026Article
- Distinguishing social and medical traits: perspectives of scientists using polygenic scores.Journal of community genetics · 2026Article
- Bridging the Genomic Equity Gap with Context-Enhanced Risk Stratification in American Indians: the Strong Heart Study.medRxiv : the preprint server for health sciences · 2026Article
152 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
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.
Indexed as
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.