ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
The illusion of polygenic disease risk prediction.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 86 papers, 4 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
86 citing papers in PubMed, 4 syntheses or guidelines pooled it, 161 citations in OpenAlex.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Blood gene expression risk profiles and interstitial lung abnormalities: COPDGene and ECLIPSE cohort studies.Respiratory research · 2022Pooled it
- Dynamic change in the association of a cigarettes-per-day polygenic risk score across the numeric range of its corresponding phenotype over adolescence and young adulthood.Addictive behaviors · 2021Pooled it
- Validation of Genome-Wide Polygenic Risk Scores for Coronary Artery Disease in French Canadians.Circulation. Genomic and precision medicine · 2019Pooled it
- How physiology solves the gene-centric impasse.Experimental physiology · 2026Review
- Polygenic risk scores: en route to clinical practice.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Genetic Susceptibility to Incisional Hernia Evaluation of Hernia Polygenic Risk Scores.medRxiv : the preprint server for health sciences · 2026Article
- 'Everyday genetics' in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britain.European journal of human genetics : EJHG · 2026Article
- Comparison of Results from the BARCODE1 Study and Contemporary Prostate Cancer Screening Trials.European urology oncology · 2026Article
- Polygenic risk scores (PRS) in society. Healthcare providers and researchers' views on the public health and socio-cultural implications of PRS in healthcare contexts.Journal of community genetics · 2026Article
- Modeling polygenic embryo screening in real-world IVF patients demonstrates limitations on efficacy.medRxiv : the preprint server for health sciences · 2026Article
- Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease.Journal of clinical neurology (Seoul, Korea) · 2026Article
- Assessment of the value of polygenic risk scores in the prevention of disease.Journal of medical screening · 2025Review
- Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model.Journal of human immunity · 2025Review
- Formal Statistical Replication Analysis in Lung Cancer Genome-Wide Association Studies.medRxiv : the preprint server for health sciences · 2025Article
- Low Stability and Specificity of Polygenic Risk Scores for Major Psychiatric Disorders Limit Their Clinical Utility.Biological psychiatry · 2025Article
- Promises and pitfalls of preimplantation genetic testing for polygenic disorders: a narrative review.F&S reviews · 2025Article
- Genomic prediction with kinship-based multiple kernel learning produces hypothesis on the underlying inheritance mechanisms of phenotypic traits.Genome biology · 2025Article
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
- Weighty matters: Considering the ethics of genetic risk scores for obesity.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
- Comment on
- Comment on
- Erratum issued
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A problem at the interface of genomic medicine and medical screening is that genetic associations of etiological significance are often interpreted as having predictive significance. Genome-wide association studies (GWAS) have identified many thousands of associations between common DNA variants and hundreds of diseases and benign traits. This knowledge has generated many publications with the understandable expectation that it can be used to derive polygenic risk scores for predicting disease to identify those at sufficiently high risk to benefit from preventive intervention. However, the expectation rests on the incorrect assumption that odds ratios derived from polygenic risk scores that are important etiologically are also directly useful in risk prediction and population screening.
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.