OBJECTIVES: Pathogenic Variants (PVs) in BRCA1/2 genes are associated with elevated risk of breast cancer (BC) and ovarian cancer (OC) with significant clinical and socioeconomic burden. Prevention of cancer risk in BRCA1/2 PV carriers varies among countries with different combinations of preventive and surveillance strategies. This study wanted to assess cost-effectiveness of a combined OC surveillance and prevention strategy in BRCA1/2 PV carriers.

METHODS: A Markov decision model was developed to simulate progression of BC and OC in BRCA1/2 PV carriers separately. The model estimated benefits and costs associated with three OC surveillance and/or preventive strategies: the Surveillance-Surgery Strategy (SSS), with annual surveillance until salpingo-oophorectomy and radical mastectomy at an appropriate age; the Only-Surgery Strategy (OSS) proposing only risk-reducing interventions and the No preventive Intervention Strategy (NIS) without any strategy. The analysis adopted the Italian national healthcare system perspective and a lifetime horizon, with direct healthcare costs, quality-adjusted life years (QALYs), and incremental cost-effectiveness ratio (ICER) as outcome measures. Base-case, deterministic and probabilistic sensitivity analyses were performed.

RESULTS: In BRCA1 PV carriers, SSS yielded lifetime per patient cost savings of €8,382 and €2,008 compared to NIS and OSS, respectively, gaining 2.65 and 0.45 QALYs per patient. Similar trends were observed for BRCA2 PV carriers, with cost reduction of €3,279 and €349 implementing SSS vs NIS and OSS strategies and a gain of 1.65 and 0.16 QALYs respectively. Sensitivity analyses confirmed SS strategy as the dominant strategy across all scenarios, with a >80% probability of being most cost-effective at a willingness-to-pay threshold of €20,000 per QALY gained.

CONCLUSIONS: A combined OC surveillance and prevention strategy for BRCA1/2 PV carriers at an appropriate age represents a highly cost-effective approach compared to surgical prophylaxis alone or no intervention. High surgical acceptance rates are crucial for maximizing the effectiveness of such programs.