Cost-utility analysis of implementing early genetic screening programs for hereditary cancer (e.g., BRCA mutations) in the compulsory medical insurance system

Abstract

Hereditary cancers associated with mutations in the BRCA1/BRCA2 genes are characterized by early onset, aggressive disease progression, and a significant economic burden on the healthcare system due to the need for high-tech and expensive treatments at late stages. The aim of this study was to conduct a pharmacoeconomic cost-utility analysis of the implementation of targeted early genetic screening programs in the compulsory health insurance (CHI) system of the Russian Federation. This study utilized mathematical modeling methods (Markov model), a retrospective analysis of clinical and economic data, and the calculation of the incremental cost-effectiveness ratio (ICER) using the quality-adjusted life year (QALY) indicator. Modeling results demonstrated that incorporating genetic testing for individuals with a positive family history into patient routing is an economically feasible strategy: the calculated ICER is below the willingness-to-pay threshold adopted for the Russian healthcare system. It was found that preventing breast and ovarian cancer or detecting it at early, localized stages provides significant long-term savings for the compulsory health insurance system by reducing treatment costs for disseminated forms of the disease and leads to a significant increase in QALYs saved. The need to integrate early genetic testing algorithms into federal clinical guidelines and the compulsory health insurance system is substantiated as a cost-effective secondary prevention tool that helps reduce cancer mortality and optimize healthcare resource allocation.