Health Impact Assessment of BRCA-Related Breast and Ovarian Cancer Prevention in Italy

Abstract Background BRCA1/2 mutations significantly increase the risk of breast and ovarian cancers (BOCs). In Italy, the implementation of BRCA1/2 cascade screening and subsequent preventive interventions varies across regions. This study aims to assess the impact of measures to enhance and standardize screening and prevention for BRCA1/2-related BOCs and identify barriers to achieving effective and equitable implementation. Methods We conducted a Health Impact Assessment using a decision tree model, literature reviews and expert consultations to evaluate impacts on health outcomes, organizational feasibility, patient acceptability and economic sustainability. The model compared BOCs incidence, mortality and costs under current and ideal implementation scenarios. All evidence was discussed by a multidisciplinary committee of clinicians, public health professionals and patient representatives. Results The model estimates that 9,503 (34%) of 27,650 at-risk family members are currently tested. In the ideal scenario, full implementation of cascade screening and preventive measures would reduce BOCs incidence by 35.4%, preventing 3,432 cases, and lower 5-year mortality by 39.3%, avoiding 1,017 deaths. The economic evaluation shows that the high initial investment required is offset by long-term savings in cancer management. The analysis highlights organizational barriers, including inconsistent reimbursement, regional difference in diagnostic and therapeutic pathways and inadequate data infrastructure. The patients’ perspective revealed a lack of integration of genetic and psychological counseling, underlining its importance for the acceptability of preventive measures. Conclusions Expanding BRCA1/2 screening according to the latest guidelines could reduce BOCs burden and mortality, with long-term economic benefits. While recent national policies have introduced mandatory reimbursement for tests, significant organizational barriers and disparities persist across regions. Key messages • Effective implementation of BRCA1/2 cascade screening and related preventive measures can significantly reduce cancer incidence and mortality while promoting equity and sustainability. • The application of the Health Impact Assessment framework enables the evaluation of the impacts of preventive measures, optimizing effectiveness and ensuring more equitable implementation.