Approximately 15% of women with epithelial ovarian cancer (EOC) have a germline BRCA1/2 pathogenic variant. Genetic testing for BRCA is recommended for all EOC patients, but not routinely performed. This study estimates the cost-effectiveness of BRCA screening with primary tumor testing versus routine germline testing.
The model used literature-based probability estimates and published cost data. Effectiveness was the probability of testing completion for each strategy, providing cost per additional woman tested. A strategy was favored if it cost ≤$5000 per additional woman tested, reflecting costs of 100% receiving germline testing and 85% subsequently receiving tumor testing.
In the base case, primary tumor testing costs $3057 per additional woman tested. While more costly, primary tumor testing increased efficacy 2.67-fold with an incremental cost of $1500. In sensitivity analyses, results were most sensitive to varying testing costs. Tumor testing costs ≤$5000 per additional woman tested when individually varying all parameters through clinically plausible ranges. Primary germline testing was favored in >60% of cases (base case 30%) when it occurred. In probabilistic sensitivity analysis, varying all parameters simultaneously over plausible ranges 5000 times, tumor testing cost ≤$5000 per additional woman tested in 100% of model iterations.
Cost effectiveness data already support BRCA1/2 screening for EOC with clear implications for cancer prevention. On the basis of this model, primary tumor testing leads to a 2.67-fold increase in testing with an incremental cost of $1500, supporting this strategy as a cost-effective way to improve BRCA testing.