ArticleAmerican journal of human genetics2024
The PRIMED Consortium: Reducing disparities in polygenic risk assessment.
Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.The lancet. Diabetes & endocrinology · 2026Pooled it
- 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
- Precision medicine in low-income settings and small island developing states.Nature reviews. Endocrinology · 2026Review
- Evidence standards for multi-ancestry polygenic prediction.Genome biology · 2026Review
- Polygenic risk scores in clinical applications - opportunities and challenges.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Characterizing the Uncertainty, Misclassification and Inconsistency of Polygenic Prediction.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Empirical evaluation of analytic validity of polygenic scores.Genome medicine · 2026Article
- Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research.American journal of human genetics · 2026Review
- Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study.American journal of human genetics · 2026Article
- Bidirectional Mendelian Randomization Analysis Reveals Causal Associations Between Autoimmune Diseases and Colorectal Cancer.World journal of oncology · 2026Article
- Clinical use of polygenic risk scores: current status, barriers and future directions.Nature reviews. Genetics · 2026Review
- Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study.HGG advances · 2026Article
- Effects of polygenic risk score communication on short term health outcomes: systematic review and meta-analysis.BMJ medicine · 2026Article
- Improving performance of polygenic risk scores for hypertension across two ancestry groups.PloS one · 2026Article
- Article
- From polygenic risk to digital twins: the future of personalised cardiovascular medicine.Frontiers in cardiovascular medicine · 2026Review
- Recommendations for responsible use of population descriptors in polygenic risk score development.Nature genetics · 2025Review
- Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants.medRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
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Authors and funding
27 authors.
Funding
Abstract
By improving disease risk prediction, polygenic risk scores (PRSs) could have a significant impact on health promotion and disease prevention. Due to the historical oversampling of populations with European ancestry for genome-wide association studies, PRSs perform less well in other, understudied populations, leading to concerns that clinical use in their current forms could widen health care disparities. The PRIMED Consortium was established to develop methods to improve the performance of PRSs in global populations and individuals of diverse genetic ancestry. To this end, PRIMED is aggregating and harmonizing multiple phenotype and genotype datasets on AnVIL, an interoperable secure cloud-based platform, to perform individual- and summary-level analyses using population and statistical genetics approaches. Study sites, the coordinating center, and representatives from the NIH work alongside other NHGRI and global consortia to achieve these goals. PRIMED is also evaluating ethical and social implications of PRS implementation and investigating the joint modeling of social determinants of health and PRS in computing disease risk. The phenotypes of interest are primarily cardiometabolic diseases and cancer, the leading causes of death and disability worldwide. Early deliverables of the consortium include methods for data sharing on AnVIL, development of a common data model to harmonize phenotype and genotype data from cohort studies as well as electronic health records, adaptation of recent guidelines for population descriptors to global cohorts, and sharing of PRS methods/tools. As a multisite collaboration, PRIMED aims to foster equity in the development and use of polygenic risk assessment.
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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.