Women with a family history of breast cancer are at increased risk for developing this neoplasm. Starting surveillance more frequently at a younger age than the general population and the possibility of undergoing genetic testing are options for their medical management. We analyzed the benefits and costs of our clinical program in familial breast cancer (FBC) and carried out a cost-effectiveness analysis of such procedure. The benefits and costs of performing genetic counseling and a screening program in FBC based on 143 high-risk families registered in our database between June 1995 and December 2001 were analyzed. A decision tree was constructed to estimate the survival benefit and cost-effectiveness of the clinical genetic counseling program compared with the strategy of not performing any screening protocol. We estimated that the prevalence of a BRCA mutation in an unaffected relative of our high-risk cohort was 10% and that 53% of the mutations are found in the BRCA1 gene. We assigned a 58.5% lifetime risk of breast cancer for a 30-yearold mutation carrier according to the SEER data. The effectiveness of the screening was obtained from our experience and data for estimating survival were derived from other studies with longer follow-up. We used our local payment data to calculate the costs of the program. A mutation in the BRCA1 or BRCA2 genes was identified in 20% of the probands. Seventy primary breast cancer cases were recorded since the onset of the program. Thirty percent of the tumors were diagnosed through the screening program and 71% of them were lymph node-negative compared to 49% of the tumors diagnosed outside the program (p ‫؍‬ 0.1). The cost-effectiveness ratio of our FBC genetic counseling and screening program was 4,294 euros per life-year gained. The model was sensitive to the prevalence of mutation carriers, the lifetime risk of breast cancer and the effectiveness of the screening. In our setting and according to our model, this analysis suggests that a program of genetic testing and screening for breast cancer in a high-risk population may be cost-effective. These results need to be confirmed as more effective interventions for cancer prevention and screening are being implemented. © 2004 Wiley-Liss, Inc. Key words: familial breast cancer; genetic counseling; cost-effectiveness analysisThe hereditary breast and ovarian cancer (HBOC) syndrome is a clinical condition associated with the transmission of germinal mutations in the BRCA1 1 or BRCA2 2 genes. The presence of a germline mutation in these genes increases the lifetime risk of developing breast and ovarian cancer. [3][4][5] The measures that mutation carriers can take to prevent breast cancer are limited and their medical management is more often focused to achieve an early detection of the neoplasm. Therefore, only individuals with a strong family history are recommended to undergo genetic testing and follow a more specific screening program for breast cancer than the general population. Families with HBOC are characterized by havi...

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