ArticleNature medicine2022
Development of a clinical polygenic risk score assay and reporting workflow.
Article in Nature medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 119 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
119 citing papers in PubMed, 2 syntheses or guidelines pooled it, 186 citations in OpenAlex.
- Genome-wide meta-analyses of cross substance use disorders in diverse populations.Molecular psychiatry · 2026Pooled it
- Human genetic diversity across South Asian populations: A systematic review and meta-analysis.Medicine · 2025Pooled it
- Development and pilot testing of a prostate cancer polygenic risk report.BMC medical genomics · 2026Trial
- Impact of Parental or First-Degree Family History of Diabetes on Diabetes Incidence and Progression During Long-term Follow-up in the Diabetes Prevention Program Outcomes Study.Diabetes care · 2025 · on this mapTrial
- Primary care physician use of patient race and polygenic risk scores in medical decision-making.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Trial
- Clinical Utility of a Type 1 Diabetes Genetic Risk Score Measured as Part of MODY Genetic Testing.Diabetes care · 2026Article
- Genetic and clinical risk factors for recurrent events among patients with coronary artery disease.American journal of preventive cardiology · 2026Article
- All of Us diversity and scale yield context-dependent improvements in polygenic prediction.Nature genetics · 2026Article
- SPLENDID incorporates continuous genetic ancestry in biobank-scale data to improve polygenic risk prediction across diverse populations.Nature methods · 2026Article
- Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions.Journal of the American College of Cardiology · 2026Article
- Genetic Basis of Tobacco Use Disorder.Genes · 2026Review
- Distinguishing different psychiatric disorders using DDx-PRS.Nature genetics · 2026Article
- A multiancestry polygenic risk score for Alzheimer's disease is associated with cognitive decline and neuropathological hallmarks in diverse populations.Nature genetics · 2026Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Polygenic Risk Scores for Incident Dementia in the Multi-Ethnic Study of Atherosclerosis.Genetic epidemiology · 2026Article
- Improving Polygenic Risk Prediction for Atherosclerotic Cardiovascular Disease in East Asian Populations.JACC. Asia · 2026Review
- Genetic susceptibility to respiratory health effects from outdoor air pollution: a structured narrative review.European respiratory review : an official journal of the European Respiratory Society · 2026Review
- PGS Browser: a public platform for personalized polygenic score analysis and interpretation.Nature communications · 2026Article
- Metabolic polygenic risk scores for prediction of obesity, type 2 diabetes, and related morbidities.Cell metabolism · 2026Article
- Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system.medRxiv : the preprint server for health sciences · 2026Article
59 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 1 country.
Funding
Abstract
Implementation of polygenic risk scores (PRS) may improve disease prevention and management but poses several challenges: the construction of clinically valid assays, interpretation for individual patients, and the development of clinical workflows and resources to support their use in patient care. For the ongoing Veterans Affairs Genomic Medicine at Veterans Affairs (GenoVA) Study we developed a clinical genotype array-based assay for six published PRS. We used data from 36,423 Mass General Brigham Biobank participants and adjustment for population structure to replicate known PRS-disease associations and published PRS thresholds for a disease odds ratio (OR) of 2 (ranging from 1.75 (95% CI: 1.57-1.95) for type 2 diabetes to 2.38 (95% CI: 2.07-2.73) for breast cancer). After confirming the high performance and robustness of the pipeline for use as a clinical assay for individual patients, we analyzed the first 227 prospective samples from the GenoVA Study and found that the frequency of PRS corresponding to published OR > 2 ranged from 13/227 (5.7%) for colorectal cancer to 23/150 (15.3%) for prostate cancer. In addition to the PRS laboratory report, we developed physician- and patient-oriented informational materials to support decision-making about PRS results. Our work illustrates the generalizable development of a clinical PRS assay for multiple conditions and the technical, reporting and clinical workflow challenges for implementing PRS information in the clinic.
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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.