SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2022
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Cost-Effectiveness and Budget Impact of Lung Cancer Screening: A Systematic Review.PharmacoEconomics · 2026Pooled it
- 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
- Public Preferences for Genetic and Genomic Risk-Informed Chronic Disease Screening and Early Detection: A Systematic Review of Discrete Choice Experiments.Applied health economics and health policy · 2025Pooled it
- Genomic risk model to implement precision prostate cancer screening in clinical care: the ProGRESS study.Nature cancer · 2026Article
- Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements.iScience · 2026Review
- Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026Review
- Cost-effectiveness of genetic risk-stratified screening for breast cancer in Taiwan.Breast (Edinburgh, Scotland) · 2025Article
- The Health Economics of Genomic Technologies: A Growing Evidence Base on Value.Applied health economics and health policy · 2025Article
- Risk-adjusted breast screening: an Australian perspective and considerations for the Western Pacific.The Lancet regional health. Western Pacific · 2025Review
- Stratified/risk-based screening for colorectal cancer in the UK: an overview.Colorectal cancer · 2025Review
- Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation.Diagnostics (Basel, Switzerland) · 2024Article
- Genome‑wide association study and polygenic risk scores predict psoriasis and its shared phenotypes in Taiwan.Molecular medicine reports · 2024Article
- Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors.Nature medicine · 2024Article
- Benefits and harms of polygenic risk scores in organised cancer screening programmes: a cost-effectiveness analysis.The Lancet regional health. Western Pacific · 2024Article
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.Genome medicine · 2024Review
- A cost-effectiveness analysis of lung cancer screening with low-dose computed tomography and a polygenic risk score.BMC cancer · 2024Article
- Polygenic risk-stratified screening for nasopharyngeal carcinoma in high-risk endemic areas of China: a cost-effectiveness study.Frontiers in public health · 2024Article
- Colorectal Cancer Polygenic Risk Score Is Associated With Screening Colonoscopy Findings but Not Follow-Up Outcomes.Gastro hep advances · 2024Article
- Navigating the uncertainty of precision cancer screening: The role of shared decision-making.PEC innovation · 2023Article
- Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores.Journal of community genetics · 2023Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
purposePolygenic risk influences susceptibility to cancer. We assessed whether polygenic risk scores could be used in conjunction with other predictors of future disease status in cost-effective risk-stratified screening for cancer.
methodsWe undertook a systematic review of papers that evaluated the cost-effectiveness of screening interventions informed by polygenic risk scores compared with more conventional screening modalities. We included papers reporting cost-effectiveness outcomes with no restriction on type of cancer or form of polygenic risk modeled. We evaluated studies using the Quality of Health Economic Studies checklist.
resultsA total of 10 studies were included in the review, which investigated 3 cancers: prostate (n = 5), colorectal (n = 3), and breast (n = 2). Of the 10 papers, 9 scored highly (score >75 on a 0-100 scale) when assessed using the quality checklist. Of the 10 studies, 8 concluded that polygenic risk-informed cancer screening was likely to be more cost-effective than alternatives.
conclusionDespite the positive conclusions of the included studies, it is unclear if polygenic risk stratification will contribute to cost-effective cancer screening given the absence of robust evidence on the costs of polygenic risk stratification, the effects of differential ancestry, potential downstream economic sequalae, and how large volumes of polygenic risk data would be collected and used.
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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.