SynthesisHuman genetics2022
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.
Synthesis in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07039123 (Polygenic Risk Score to Optimize Primary Prevention in Intermediate Risk Population), which is not on this map. Cited by 52 papers, 2 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.
Polygenic Risk Score to Optimize Primary Prevention in Intermediate Risk Population (PERSONAL)
Who cites it
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- Weighing the evidence on costs and benefits of polygenic risk-based approaches in clinical practice: A systematic review of economic evaluations.American journal of human genetics · 2025Pooled it
- Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Inflammatory bowel disease treatment: Mechanisms to clinical translation (Review).International journal of molecular medicine · 2026Review
- Perceptions of Polygenic Scores for Medical and Social Traits Among Biobank Participants and the Public.Biopreservation and biobanking · 2026Article
- Rare extreme polygenic risk scores strongly indicate Alzheimer's disease risk.medRxiv : the preprint server for health sciences · 2026Article
- Artificial Intelligence and Genomic Data Analysis: New Frontiers in Precision Medicine.International journal of molecular sciences · 2026Review
- Review
- Are polygenic scores for psychiatric and substance use outcomes "ready" for clinical application? Current state and next steps.Psychiatric genetics · 2026Review
- Preparing healthcare providers to use polygenic risk scores: a qualitative study of learning needs and educational preferences.BMJ open · 2026Article
- Evaluating Individual Level Performance of Polygenic Risk Scores Using Early Onset High Genetic Risk Coronary Artery Disease as a Benchmark.medRxiv : the preprint server for health sciences · 2026Article
- Carcinogenic Medications: A Review of Specific Agents and Molecular Mechanisms of Carcinogenesis.Cancer reports (Hoboken, N.J.) · 2026Review
- From targeted to genome-wide DNA testing in public health screening programs-an introduction to the special issue of the European Journal of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Clinical use of polygenic risk scores: current status, barriers and future directions.Nature reviews. Genetics · 2026Review
- Distinguishing social and medical traits: perspectives of scientists using polygenic scores.Journal of community genetics · 2026Article
- Integrating Polygenic Scores with Clinical, Lifestyle, and Social Risk Factors to Improve Heart Failure Risk Prediction.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2026Article
- The Genetics of Hidradenitis Suppurativa.Clinical, cosmetic and investigational dermatology · 2026Review
- Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026Review
- Genomic platform specific polygenic risk scores impact breast cancer risk stratification.Communications medicine · 2025Article
- Genomic Signatures of MASLD: How Genomics Is Redefining Our Understanding of Metabolic Liver Disease.International journal of molecular sciences · 2025Review
- Greater value add from electronic health records than polygenic risk scores for predicting myocardial infarction in machine learning.Communications medicine · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 11 institutions in 10 countries.
Funding
Abstract
Genomic medicine aims to improve health using the individual genomic data of people to inform care. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g., coronary artery disease or breast cancer. Polygenic risk scores (PRS) are subsets of individual genotypes designed to capture heritability of common traits, and hence to allow the stratification of risk of the trait in a population. We systematically reviewed the PubMed database for unequivocal evidence of clinical utility of polygenic risk scores, using stringent inclusion and exclusion criteria. While we identified studies demonstrating clinical validity in conditions where medical intervention based on a PRS is likely to benefit patient outcome, we did not identify a single study demonstrating unequivocally such a benefit, i.e. clinical utility. We conclude that while the routine use of PRSs hold great promise, translational research is still needed before they should enter mainstream clinical practice.
Indexed as
Identifiers
What OpenQuestion holds
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.