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Introducing Polygenic Risk Scores In Clinical Practice: A Systematic Review of Economic Evaluations

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Publicado en:European Journal of Public Health vol. 35, no. Supplement_4 (Oct 2025)
Autor principal: Siena, L M
Otros Autores: Baccolini, V, Riccio, M, Rosso, A, Migliara, G, Sciurti, A, Marzuillo, C, De Vito, C, La Torre, G, Villari, P
Publicado:
Oxford University Press
Materias:
Diabetes mellitus (non-insulin dependent)
Diabetes
Glaucoma
Lung cancer
Health care
Cost benefit analysis
Cardiovascular diseases
Cancer
Breast cancer
Prostate cancer
Risk
Evaluation
Costs
Lung carcinoma
Cost effectiveness
Economics
Breast carcinoma
Nasopharyngeal carcinoma
Health services
Colorectal carcinoma
Cost analysis
Pilot projects
Population studies
Systematic review
Effectiveness
Health care expenditures
Health status
Health care industry
Prostate
Treatment outcomes
Clinical medicine
Innovations
Tumors
Colorectal cancer
Type 2 diabetes mellitus
Stratification
Representativeness
Medical screening
Context
Utility functions
Social
Acceso en línea:Citation/Abstract
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Resumen:Background Polygenic Risk Scores (PRS) represent a promising innovation in the context of precision health and have been studied across various settings, but their clinical utility and benefits for healthcare systems remain under debate. This systematic review examines the cost-effectiveness of PRS-based approaches across different healthcare contexts, summarizing current evidence, evaluating methodologies for costs and benefit estimation, identifying challenges in assessment models, and suggesting directions for future research. Methods A systematic search of PubMed, Scopus, and Web of Science identified all economic evaluations related to interventions based on polygenic risk stratification strategies. The quality of included studies was assessed using the Quality of Health Economic Studies (QHES) instrument. This study was supported by the EC and MUR- PNRR-M4C2-I1.3 Project PE_00000019 ‘HEAL ITALIA’. Results A total of 2,183 records were identified, of which 24 were included in the review. Among these, 16 studies focused on cancer (prostate, colorectal, breast, lung, nasopharyngeal carcinoma, and multiple tumors), five on cardiovascular diseases, two on type 2 diabetes, and one on primary open-angle glaucoma. The economic evaluations, primarily cost-utility analyses, assessed the use of PRS in screening and treatment, with variable findings on their cost-effectiveness. PRS-based strategies demonstrated higher cost-effectiveness in certain oncological, cardiovascular, and diabetes-related applications, but results were mixed for specific cancer types. Study quality ranged from 62/100 to 100/100. Conclusions Despite a positive trend in cost-effectiveness of PRS implementation, several challenges remain. These include limited real-world data, issues of representativeness, and gaps in accounting for implementation costs. Further research and pilot studies are needed to evaluate PRS applications across diverse populations and multiple health outcomes. Key messages • PRS show cost-effectiveness potential, but limited real-world validation hinders adoption. • Cost-effectiveness of PRS varies; further context- and population- specific studies are needed.
ISSN:1101-1262
1464-360X
DOI:10.1093/eurpub/ckaf161.1763
Fuente:ABI/INFORM Global