Cost-effectiveness analysis and budget impact analysis of next-generation sequencing panel including BRCA1 and BRCA2 genes for women diagnosed with non-metastatic breast cancer in Brazil

Authors

  • Henrique Lima Couto Centro de Referência no Diagnóstico Mamário – Belo Horizonte (MG), Brazil.
  • Rosemar Macedo de Souza Rahel Universidade Federal de Goiás – Goiânia (GO), Brazil.
  • Ludmila Peres Gargano Universidade Federal de Minas Gerais, Faculdade de Farmácia, Departamento de Farmácia Social – Belo Horizonte (MG), Brazil.
  • Fernando Zanghelini Universidade Federal de Pernambuco, Programa de Pós-Graduação de Inovação Terapêutica – Recife (PE), Brazil.
  • Agnaldo Lopes da Silva filho Universidade Federal de Minas Gerais – Belo Horizonte (MG), Brazil.
  • Augusto Tuf Hassan Sociedade Brasileira de Mastologia – Brazil.
  • Angélica Nogueira Rodrigues Sociedade Brasileira de Oncologia Clínica – Brazil.
  • Bertha Andrade Coelho Sociedade Brasileira de Mastologia – Brazil.

DOI:

https://doi.org/10.29289/259453942025V35S1044

Keywords:

breast cancer, BRCA1 protein, BRCA2 protein, cost-effectiveness analysis, analysis of the budgetary impact of therapeutic advances

Abstract

Objective: This study aimed to estimate both the cost-effectiveness and budget impact of using next-generation sequencing panels with genetic counselling to detect BRCA1/2 mutations in women diagnosed with non-metastatic breast cancer
and compare to no genetic testing, from the perspective of the Brazilian Public Health System. Methods: A hybrid economic model (decision tree plus Markov model) simulated costs and outcomes over a 10-year horizon of next-generation
sequencing panels with genetic counselling to identify BRCA1/2 pathogenic variants in women diagnosed with non-metastatic breast cancer. The eligible population was estimated using the epidemiological method with national data identified in the literature. We estimated both the incremental cost-effectiveness ratio per quality-adjusted life year (QALY)
gained and the budget impact of adding next-generation sequencing panels plus genetic counselling to identify pathogenic variants in BRCA1/2 in women diagnosed with non-metastatic breast cancer. Results: Genetic testing for BRCA1/2
mutations combined with genetic counselling showed an incremental benefit of 0.044 QALYs gained at an additional
cost of R$ 3.314,83 compared to no genetic testing and genetic counselling, resulting in an incremental cost-effectiveness
ratio of R$ 75.961,11 per QALY gained. Considering the expected number of women, the cumulative budget impact over
five years with the availability of genetic testing for BRCA1/2 and genetic counselling would be R$ 31.104.761,08, based on
the current scenario (without BRCA1/2 test and genetic counselling). Conclusion: Genetic testing for BRCA1/2 mutations combined with genetic counselling was cost-effective from the Brazilian Public Health System perspective, with
an incremental cost-effectiveness ratio value below the established willingness-to-pay threshold of R$ 120,000.00/QALY.

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Published

2026-02-24

How to Cite

Couto, H. L., Rahel, R. M. de S., Gargano, L. P., Zanghelini, F., Silva filho, A. L. da, Hassan, A. T., … Coelho, B. A. (2026). Cost-effectiveness analysis and budget impact analysis of next-generation sequencing panel including BRCA1 and BRCA2 genes for women diagnosed with non-metastatic breast cancer in Brazil. Mastology, 35(suppl.1). https://doi.org/10.29289/259453942025V35S1044

Issue

Vol. 35 No. suppl.1 (2025)

Section

E-poster

License

Copyright (c) 2026 Henrique Lima Couto, Rosemar Macedo de Souza Rahel, Ludmila Peres Gargano, Fernando Zanghelini, Agnaldo Lopes da Silva filho, Augusto Tuf Hassan, Angélica Nogueira Rodrigues, Bertha Andrade Coelho

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.