OBJECTIVES:

Germline mutations in BRCA1 and BRCA2 genes (gBRCA1/2m) are associated with an increase of ovarian cancer (OC) and breast cancer (BC) risk. This study estimates the long-term efficiency of providing germline BRCA testing (gBRCAt) in women with high grade epithelial non-mucinous OC (HGEOC) without family history of OC or BC in Spain (index population) and the subsequent testing and management of their relatives who have a gBRCA1/2m.

METHODS:

A simulation with annual cycles was developed in those patients with gBRCA1/2m and in their relatives. The risk of HGEOC and BC in gBRCA1/2m carriers, effects of risk-reducing surgeries on cancer rates and mortality rates were simulated in a 50-year time horizon. Direct healthcare costs and utilities of HGEOC and BC were also included. Two scenarios were compared on index population: gBRCAt vs no gBRCAt, with the perspective of Spanish National Health Service. A discount rate of 3% was applied to costs and quality-adjusted-life-years (QALYs), being 2017 the base year. The robustness of the model was verified by a probabilistic sensitivity analysis (PSA) with 5,000 simulations, considering ±25% of the base-case value.

RESULTS:

The incremental cost-utility ratio of gBRCAt is €31,621.33/QALY compared with no testing. The PSA showed that the probability of BRCA testing being cost-effective was between 52.52%-89.12% using a €35,000 or €50,000/QALY considering European screening techniques thresholds.

CONCLUSIONS:

Implementing germline BRCA testing in women with non-mucinous HGEOC regardless of family history of OC or BC is highly cost-effective in Spain. On the long-term, the investment in early diagnosis techniques that consequently reduce the new future cases of gBRCA1/2m OC or BC in relatives would decrease the cost of the illness management in subsequent years and significantly improve survival and quality of life outcomes for these individuals.