PS5-11-01: Cost-effectiveness analysis of next-generation sequencing (ngs) panel including brca1 and brca2 genes for women diagnosed with non-metastatic breast cancer in brazil

Abstract Background: Pathogenic BRCA1/2 mutations in women diagnosed with non-metastatic breast cancer (MBC) correlate with worse survival outcomes and elevated risk of contralateral breast cancer. Detecting pathogenic BRCA1/2 mutations via next-generation sequencing panels (NGS) provides clinical benefits by optimizing treatment strategies. Objective: This study estimates the cost-effectiveness of using NGS with genetic counselling to detect pathogenic BRCA1/2 mutations in women diagnosed with non-MBC, compared to no genetic testing, from the perspective of Brazil's Public Health System. Methods: A hybrid economic model (decision tree plus Markov model) simulated costs and outcomes over a 10-year horizon of NGS with genetic counselling to identify pathogenic BRCA1/2 mutations in women diagnosed with non-MBC. The eligible population was estimated by using epidemiological methods using national data identified in the literature. Were estimated the incremental cost-effectiveness ratio (ICER) per quality-adjusted life year (QALY) gained of adding NGS plus genetic counselling to identify pathogenic BRCA1/2 mutations in women diagnosed with non-MBC. Results: NGS for pathogenic BRCA1/2 mutations combined with genetic counselling showed an incremental benefit of 0.044 QALYs gained at an additional cost of US$ 590.29 compared to no genetic testing and genetic counselling, resulting in an ICER of US$ 13,526.89 per QALY gained. Conclusion: NGS for pathogenic BRCA1/2 mutations combined with genetic counselling was cost-effective from the Brazilian public health system perspective, with an ICER value below the Brazilian oncological willingness-to-pay threshold of US$21,500/QALY (R$120,000.00/QALY). Citation Format: H. L. Couto, R. M. Rahal, A. T. Hassan, F. Zanghelini, L. P. Gargano, T. C. Oliveira, B. A. Coelho, M. C. Wender, A. L. Silva, E. C. Pessoa, A. Mattar, C. A. Padua, G. F. Cunha Júnior, A. M. Santos, L. L. Dominguez, D. R. Siqueira, M. S. Castilho, M. Antonini, J. S. Oliveira, B. A. Pires, D. d. Pires, S. d. Ferreira, T. P. Moraes, L. B. Oliveira, P. C. Soares, R. G. Saliba, A. C. Mendonça, J. C. Cisneros, F. M. Reis, G. Novita, V. M. Oliveira, F. M. Bagnoli, G. Tosello, D. d. Buttros, B. P. Carvalho, W. J. Almeida Junior, M. d. Ramos, D. Balabram, É. M. Carvalho, BreastMit Collaborative Research Group. Cost-effectiveness analysis of next-generation sequencing (ngs) panel including brca1 and brca2 genes for women diagnosed with non-metastatic breast cancer in brazil [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2025; 2025 Dec 9-12; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2026;32(4 Suppl):Abstract nr PS5-11-01.