Cost-Effectiveness of Testing High-Risk Women for Mutations in the BRCA 1 and BRCA 2 Genes: Does Early Detection Lead to Better Health and Economic Outcomes?

Background: Breast cancer is the leading cause of cancer deaths for women aged 40-59. Lifetime risk for breast cancer in America is 12%, but women with BRCA mutations are at substantially higher risk. Objective: To analyze the cost-effectiveness of screening high-risk women for mutated BRCA genes. Design: Cost-effectiveness study using Microsoft Excel to model a decision tree and Oracle Crystal Ball to run Monte Carlo simulations testing for sensitivity. Costs and outcomes discounted at 3%. Data Sources: American Cancer Society, National Cancer Institute, peer-reviewed cost-effectiveness studies. Target Population: Hypothetical cohort of 50,000 high-risk, 30-year-old women with a family history of breast cancer. Time Horizon: Cohort followed for duration of natural lifespan or until breast cancer death. Perspective: Societal Interventions: Genetic screening for BRCA gene; women with mutations can have: surveillance, mastectomy, oophorectomy, tamoxifen chemopreventive therapy or both surgeries. Outcome Measures: Incremental cost, life-years saved, incremental quality adjusted life years (QALY), deaths averted, cost per life-year saved, cost per QALY. All costs 2008 US$. Results of Base-Case Analysis: Incremental Cost-Effectiveness Ratio (ICER) $3,230 per QALY. Base-case is cost-effective at threshold value of $50,000/QALY. Results of Sensitivity Analysis: Probabilities for developing breast cancer with and without BRCA mutation have most effect on one-way sensitivity. Probabilistic sensitivity shows cost/QALY is cost-effective 76% of the time. Limitations: Relapse is not considered. Branches in the decision-tree with three or more options were not tested for sensitivity. Conclusions: Genetic screening for high-risk women should be undertaken, provided the test results are confidential.