Genetic Testing for Hereditary Breast and Ovarian Cancer Syndrome in Singapore: A Cost-Utility and Budget Impact Analysis

Background: Upfront germline genetic testing (GT) has been shown to be cost-effective for diagnosing hereditary breast and ovarian cancer (HBOC) and reducing the hereditary cancer burden in many high-income countries, but lacks economic validation in Singapore. We aimed to evaluate the cost-effectiveness of GT for BRCA1 and BRCA2 compared to age-and/or family history (FH)-guided GT and no testing to diagnose HBOC in women in Singapore.<br><br>Methods: We conducted cost-utility analyses from Singapore's healthcare system perspective with a lifetime horizon, targeting three populations and their first-degree relatives (FDRs) through cascade testing: newly diagnosed breast cancer (BC) patients, ovarian cancer (OC) patients, and cancer-unaffected women aged 30 years. The cost-effectiveness threshold was SGD$75,000 per quality-adjusted life-year (QALY). Uncertainty was assessed deterministically and probabilistically.<br><br>Findings: Upfront GT had an incremental cost-effectiveness ratio of $14,775 /QALY in BC patients, $23,173 /QALY in OC patients, and $50,541/QALY for population screening compared with age and/or FH-guided GT and averted 4, 5, and 1 additional cancer cases per 1,000 women, respectively. Upfront GT was the optimal strategy, demonstrating nearly 100% cost-effectiveness in all three target populations. The results were most sensitive to prophylactic surgery costs and uptake, surveillance adherence, number of FDRs and cascade testing participation rate.<br><br>Interpretation: Upfront BRCA1/2 GT is cost-effective to diagnose HBOC in Singapore. Given the significant influence of prophylactic intervention costs on the model outcomes, subsidies for GT, breast MRI, and prophylactic surgeries should be considered to improve uptake and optimise program effectiveness.

Duke Scholars

Author David Bruce Matchar Medicine, General Internal Medicine