Economic evaluation of genomic/genetic tests: a review and future directions

Abstract

It has been suggested that health economists need to improve their methods in order to meet the challenges of evaluating genomic/genetic tests. In this article, we set out twelve challenges identified from a rapid review of the literature and suggest solutions to the challenges identified. Two challenges were common to all economic evaluations: choice of perspective and time-horizon. Five challenges were relevant for all diagnostic technologies: complexity of analysis; range of costs; under-developed evidence base; behavioral aspects; and choice of outcome metrics. The final five challenges were pertinent for genomic tests and only these may require methodological development: heterogeneity of tests and platforms, increasing stratification, capturing personal utility; incidental findings; and spillover effects. Current methods of economic evaluation are generally able to cope with genomic/genetic tests, although a renewed focus on specific decision-makers’ needs and a willingness to move away from cost-utility analysis may be required. Certain analysts may be constrained by reference cases developed primarily for the assessment of pharmaceuticals. The combined impact of multiple challenges may require analysts to be particularly careful in setting the scope of their analysis in order to ensure that feasibility is balanced with usefulness to the decision maker. A key issue is the under-developed evidence-base and it may be necessary to rethink translation processes to ensure sufficient, relevant evidence is available to support economic evaluation and adoption of genomic/genetic tests.

Effective and Efficient Delivery of Genome-Based Testing-What Conditions Are Necessary for Health System Readiness?

“…Many issues related to testing, including availability of evidence and context-driven performance are part of a broader suite of limitations faced by administrators when evaluating diagnostic tests and medical devices [ 48 ]. As such, the timing and complexity of traditional approaches to HTA must be balanced against patient need, in an environment where test utility and cost is dynamic.…”

Resource allocation in genetic and genomic medicine

“…Evidence is being generated on the health and non-health benefits of sequencing for different stakeholders (Buchanan 2019, Goranitis 2021. The appropriate economic methods to use in this context are under constant review (Bouttell 2022). Moreover, approaches to addressing funding challenges in different healthcare systems have been outlined (Phillips et al 2021).…”