Economic modeling of risk-adapted screen-and-treat strategies in women at high-risk for breast or ovarian cancer

Background: Approximately 28% of women with an increased incidence of breast or ovarian cancer in their families have a genetic mutation in cancer genes BRCA1 or BRCA2. While several preventive strategies are available, the cost-effectiveness of genetic testing in these women is still unknown. Objective: The aim of this modeling study was to evaluate the cost-effectiveness of genetic testing in women with a high familial risk followed by different preventive strategies (surveillance, mastectomy, oophorectomy, or both mastectomy and oophorectomy) compared to women non-informed about their mutation status. The analysis was performed from the perspective of the statutory health insurance (SHI). Methods: A Markov-model with a lifelong time horizon was developed. The model simulated a cohort of 30-year old women at high-risk of cancer. The model included the health states ‘well’ (women with increased risk but without breast or ovarian cancer), ‘breast cancer without metastases’, ‘breast cancer with metastases’, ‘ovarian cancer’, ‘death’, and 2 states for women who have had a (non-metastatic) breast or ovarian cancer. Data on the incidence of breast or ovarian cancer as well as on prevention and treatment patterns was obtained from 3334 women enrolled in the ‘German Consortium on Hereditary Breast and Ovarian Cancer’. Additional data was obtained from the literature. Results: Among women with a pathogenic BRCA1 or BRCA2 mutation (n = 985), 6% chose the option mastectomy, 42% oophorectomy, and 45% both mastectomy and oophorectomy. Compared with the no test strategy, genetic testing with subsequent surgical and non-surgical treatment options resulted in additional costs of € 6705 and additional quality of life years gained of 0,52 (incremental cost-effectiveness ratio of € 13,005).