ArticleGenome medicine2021
Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues.
Article in Genome medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 3 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
96 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Polygenic risk scores in the clinic: a systematic review of stakeholders' perspectives, attitudes, and experiences.European journal of human genetics : EJHG · 2025Pooled it
- Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis.Nature communications · 2024Pooled it
- Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts.The British journal of dermatology · 2022Pooled it
- Polygenic risk for alcohol consumption and multisite chronic pain: Associations with ad lib drinking behavior.Experimental and clinical psychopharmacology · 2023Trial
- Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Trial
- The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information.European journal of human genetics : EJHG · 2026Article
- Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank.Human genetics · 2026Article
- Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision-Making and Polygenic Embryo Screening.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
- Preparing healthcare providers to use polygenic risk scores: a qualitative study of learning needs and educational preferences.BMJ open · 2026Article
- Predictive performance of breast cancer polygenic risk scores from diverse ancestries: a prospective study in Japanese women.Breast cancer research : BCR · 2026Article
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- Clinical translation of polygenic scores for prostate cancer screening.Nature reviews. Urology · 2026Review
- 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
- Genomic Medicine and Individual Autonomy: Reflections on Knowledge Societies and Governmentality.International journal of environmental research and public health · 2026Article
- Unraveling the genetic blueprint of coronary artery disease: The role of polygenic risk scores in risk prediction.American heart journal plus : cardiology research and practice · 2026Article
- Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study.HGG advances · 2026Article
- Personal Health Data Spaces for precision prevention and continuity of care: integrating genomic, imaging, and clinical data in primary care.Frontiers in medicine · 2026Article
- Feasibility of integrating genetic risk and digital health tools for cardiovascular prevention: the FitPreV protocol.Frontiers in public health · 2026Article
- Implementing polygenic risk-based breast cancer screening across European health systems: insights from the BRIGHT project.Frontiers in health services · 2026Article
36 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical use of polygenic risk scores (PRS) will look very different to the more familiar monogenic testing. Here we argue that despite these differences, most of the ethical, legal, and social issues (ELSI) raised in the monogenic setting, such as the relevance of results to family members, the approach to secondary and incidental findings, and the role of expert mediators, continue to be relevant in the polygenic context, albeit in modified form. In addition, PRS will reanimate other old debates. Their use has been proposed both in the practice of clinical medicine and of public health, two contexts with differing norms. In each of these domains, it is unclear what endpoints clinical use of PRS should aim to maximize and under what constraints. Reducing health disparities is a key value for public health, but clinical use of PRS could exacerbate race-based health disparities owing to differences in predictive power across ancestry groups. Finally, PRS will force a reckoning with pre-existing questions concerning biomarkers, namely the relevance of self-reported race, ethnicity and ancestry, and the relationship of risk factors to disease diagnoses. In this Opinion, we argue that despite the parallels to the monogenic setting, new work is urgently needed to gather data, consider normative implications, and develop best practices around this emerging branch of genomics.
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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.