This editorial by Buchanan, Goranitis, and Weymann (2025) introduces a special issue of Applied Health Economics and Health Policy, focusing on the evolving evidence base around the economic value of genomic technologies. The authors contextualize the emergence of genome and exome sequencing in clinical practice, tracing developments from large-scale initiatives like the 100,000 Genomes Project to more localized clinical applications. The core argument is that while genomic innovations hold great clinical promise, robust economic evaluations are still insufficient and unevenly developed.
Key Propositions and Insights
- Demand for Economic Evidence
Despite decreasing sequencing costs, the broader value—especially downstream costs, outcomes, and patient-centered benefits—remains underexplored. Only a fraction of existing studies comprehensively integrate both clinical and economic data needed by health technology assessment (HTA) agencies. - Cancer-Focused Applications
Genomics is well-established in oncology, but economic evaluations vary in strength:- Bourke et al. found strong cost-effectiveness evidence for breast and blood cancers and some for NSCLC, but gaps remain in other cancers.
- Lindsay et al. reported that panel testing for myeloid malignancies in Australia was not cost-effective (AU$153,854/QALY).
- Turongkaravee et al. showed genomic testing improved NSCLC patient outcomes in Thailand, but was not cost-effective due to high testing costs.
- Minhinnick et al. highlighted a lack of attention to non-clinical value elements like psychological benefit and access to trials.
- Rare Diseases and Genomic Diagnosis
Several studies showed genomic sequencing offers early, more accurate diagnoses at lower lifetime cost:- Abbott et al. used contingent valuation to show higher willingness-to-pay among those receiving a genomic diagnosis.
- Smith et al. revealed that exome sequencing improves diagnostic yield with minimal added out-of-pocket costs to families.
- Degeling et al. found that using exome sequencing as a first-tier test improves diagnostic yield and cost-effectiveness.
- Sarker et al. presented gene therapy for hemophilia B as cost-saving despite high initial cost, proving it a dominant option.
- Valuing Stakeholder Preferences
Incorporating patient preferences is critical but still rare:- Two studies by Salisbury et al. examined discrete choice experiments, revealing public and rural preferences for test attributes like accuracy, speed, and breadth.
- Smith et al. proposed a conceptual framework for embedding preferences into HTA models to better align predicted versus real-world uptake.
- Future Directions and Challenges
The authors call for:- Harmonized global guidance on incorporating real-world and preference-based data.
- Economic evaluations at the population (macro) level.
- Studies on new applications like newborn screening, multi-cancer detection, and polygenic risk scores.
- Equity-focused assessments, especially for low- and middle-income countries.
Conclusion
This themed issue highlights a growing but still fragmented body of literature evaluating genomic technologies. While some applications, particularly in rare diseases and certain cancers, demonstrate cost-effectiveness or clinical value, the integration of broader outcomes, preferences, and population-level analyses remains limited. Future progress requires methodological innovation, policy alignment, and equity-sensitive evaluation frameworks.
APA Citation:
Buchanan, J., Goranitis, I., & Weymann, D. (2025). The health economics of genomic technologies: A growing evidence base on value. Applied Health Economics and Health Policy, 23(3), 331–335. https://doi.org/10.1007/s40258-025-00970-z
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