Grant: Travel Awards - Institute Community Support

Purpose: Women who test positive for BRCA 1 and 2 genetic mutations are at high life time risk for breast cancer, and are recommended either annual screening imaging, or preventive surgery. Newer genetic screening panels potentially identify more people who carry gene mutations associated with high breast cancer risk. Little is known about the cost effectiveness of genetic screening panels in breast cancer. Method: We conducted an economic analysis of two genetic screening strategies to detect gene mutations for high and moderate risk for breast cancer, comparing: 1) an alternative direct 20-gene screening panel ("panel") to 2) the current two-step test for BRCA 1 and 2 followed by a 20-gene screening panel test if indicated ("BRCA & panel"). We estimated effectiveness and life-time costs from the payer's perspective. Our hypothetical cohort was women with a >25% lifetime risk of developing breast cancer, at least 30 years followed over her lifetime. Model outcomes were expected costs, quality-adjusted life years (QALY), and incremental cost per QALY. We performed sensitivity analyses on the effects of parameter uncertainty. Result: The current BRCA & panel screening strategy is more cost effective than the direct 20-gene screening panel. One-way sensitivity analyses found that the BRCA & panel strategy was more cost-effective in all scenarios. Probabilistic sensitivity analysis found that the current BRCA & panel screening strategy is the most cost effective strategy in 92% of the 10,000 simulations at the $50,000/QALY cost effectiveness threshold. Conclusion: The BRCA & panel screening strategy can be explained by: 1) a higher prevalence of BRCA compared with high risk panel genes, and 2) a higher proportion of true positive results in the BRCA single gene test compared with panel genes, 3) fewer unnecessary risk reduction surgeries. Overall, our economic evaluation supports the current two-step BRCA & genetic panel strategy over direct genetic panel screening.