Show Notes
Siena LM et al., The American Journal of Human Genetics - A systematic review of 24 full economic evaluations assessing polygenic risk score (PRS)–based clinical strategies across cancer, cardiovascular disease, and other conditions, summarizing methods, cost components, and evidence on cost-effectiveness. Key terms: polygenic risk scores, economic evaluation, cost-effectiveness, screening, implementation.
Study Highlights:
The authors reviewed 24 cost-utility analyses (16 cancer, 5 cardiovascular, 3 other) and assessed study quality with the QHES instrument. Most analyses used hypothetical cohorts and decision models (Markov or microsimulation) and focused on PRS-informed screening or eligibility for preventive therapy. Results show a general positive trend toward cost-effectiveness—most consistently for cardiovascular applications—but studies often omitted implementation costs, indirect costs, and real-world data. Key gaps include limited representativeness across ancestries and sparse evaluation of delivery models and long-term non-health benefits.
Conclusion:
PRS-based approaches show a promising trend toward cost-effectiveness, particularly for cardiovascular prevention, but robust real-world pilot studies and explicit accounting for implementation, equity, and long-term benefits are needed before wide-scale clinical adoption.
Music:
Enjoy the music based on this article at the end of the episode.
Article title:
Weighing the evidence on costs and benefits of polygenic risk-based approaches in clinical practice: A systematic review of economic evaluations
First author:
Siena LM
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2025.05.012
Reference:
Siena LM, Baccolini V, Riccio M, Rosso A, Migliara G, Sciurti A, Isonne C, Iera J, Pierri F, Marzuillo C, DeVito C, La Torre G, Villari P. Weighing the evidence on costs and benefits of polygenic risk-based approaches in clinical practice: A systematic review of economic evaluations. Am J Hum Genet. 2025;112:1735–1753. doi:10.1016/j.ajhg.2025.05.012.
License:
This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/
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QC:
This episode was checked against the original article PDF and publication metadata for the episode release published on 2025-06-23.
QC Scope:
- article metadata and core scientific claims from the narration
- excludes analogies, intro/outro, and music
- transcript coverage: Audited the transcript sections describing the systematic review's scope, disease-category results, modeling approaches, uptake assumptions, ancestry considerations, and implementation costs, and compared them with the canonical article.
- transcript topics: Overview of PRS economic evaluations; Study counts by disease: cancer, cardiovascular disease, other; PRS use in cancer screening and treatment decision-making; PRS use in cardiovascular disease: statin eligibility; Modeling approaches (Markov, microsimulation); Real-world data vs hypothetical cohorts
QC Summary:
- factual score: 10/10
- metadata score: 10/10
- supported core claims: 8
- claims flagged for review: 0
- metadata checks passed: 4
- metadata issues found: 0
Metadata Audited:
- article_doi
- article_title
- article_journal
- license
Factual Items Audited:
- There were 24 full economic evaluations included in the review (not just abstracts).
- Cancer: 16 studies; Cardiovascular disease: 5 studies; Other diseases: 3 studies.
- PRS used to optimize cancer screening; PRS used to refine eligibility for preventive therapies (e.g., statins) in CVD; one cancer study used PRS to guide chemotherapy decisions.
- Most evaluations used hypothetical cohorts; real-world data were limited; several studies scored highly on quality checklists.
QC result: Pass.
