ReviewNature reviews. Genetics2018
The personal and clinical utility of polygenic risk scores.
Review in Nature reviews. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 948 papers, 1 of them a synthesis 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.
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Who cites it
948 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Global trajectories of polygenic risk score research: a systematic bibliometric review of precision medicine, equity, and clinical translation.Frontiers in medicine · 2026Pooled it
- Polygenic risk scores predict blood pressure changes independent of dietary intervention: a secondary analysis of the NUPRESS trial.European journal of nutrition · 2026Trial
- Evaluating the impact of communicating high polygenic risk for coronary artery disease on the health behaviour of young overweight adults: a pragmatic randomised controlled trial.Scientific reports · 2026Trial
- Polygenic Risk Scores disclosure for cardiovascular prevention: Protocol of the Personalized HeartCare (PHC) trial.PloS one · 2026Trial
- Moderation of treatment outcomes by polygenic risk for alcohol-related traits in placebo-controlled trials of topiramate.Alcohol, clinical & experimental research · 2025Trial
- Perceptions of Polygenic Scores for Medical and Social Traits Among Biobank Participants and the Public.Biopreservation and biobanking · 2026Article
- Polygenic risk scores in human genetics for study design discovery and translation.Human genetics · 2026Review
- Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection.Nature genetics · 2026Article
- Clinical-genetic predisposition and medium-term outcomes after bariatric surgery: A 5-year validation of the OBEGEN score.Obesity pillars · 2026Article
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- RETRACTED: Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer.International journal of cancer · 2026Article
- A pre-train and fine-tune framework for adaptive boosting of pre-trained polygenic risk scores.Nature communications · 2026Article
- Partitioned blood pressure polygenic risk reveals differential genetic effects of tissue-specific enhancers and their interactions on cardiovascular disease.Research square · 2026Article
- Neurofilament Light Chain (NfL) in Neurodegenerative Diseases: Biological and Clinical Significance, Multi-Omics Integration, and AI-Driven Biomarker Modeling for Precision Therapy.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Integrating NRG1 and OXT Polymorphisms, Maternal Psychological Vulnerability, and Obstetric-Neonatal Outcomes: A Genotype-Phenotype Pilot Study.Journal of clinical medicine · 2026Article
- Polygenic Risk Score for Adult Idiopathic Hydrocele Testis: Susceptibility and Severity in a Japanese Cohort.International journal of molecular sciences · 2026Article
- Type 2 diabetes prevention across the life course.Nature medicine · 2026Review
- Scoping Review of Polygenic Risk Scores in Kidney-Related Traits.Kidney international reports · 2026Article
- Artificial Intelligence-Driven Multimodal Prediction of 10-Year Incident Glaucoma Integrating Genetic and Deep Learning-Derived Imaging Features.Ophthalmology science · 2026Article
- Arrhythmia and cardiomyopathy risk in Taiwan with complementary biobank evidence on thyroid genetic susceptibility: an integrative population-based framework.Endocrine connections · 2026Article
888 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
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Initial expectations for genome-wide association studies were high, as such studies promised to rapidly transform personalized medicine with individualized disease risk predictions, prevention strategies and treatments. Early findings, however, revealed a more complex genetic architecture than was anticipated for most common diseases - complexity that seemed to limit the immediate utility of these findings. As a result, the practice of utilizing the DNA of an individual to predict disease has been judged to provide little to no useful information. Nevertheless, recent efforts have begun to demonstrate the utility of polygenic risk profiling to identify groups of individuals who could benefit from the knowledge of their probabilistic susceptibility to disease. In this context, we review the evidence supporting the personal and clinical utility of polygenic risk profiling.
Indexed as
Identifiers
29789686What 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.