Desafios no diagnóstico de síndromes neoplásicas hereditárias por testes genéticos na população brasileira: uma revisão

Abstract

The challenges of diagnosis in Brazil are a complex and multifaceted reality, especially in the field of genetic diseases. This study addressed the challenges in diagnosing hereditary neoplastic syndromes in Brazil through genetic testing. The objective was to investigate the barriers faced by Brazilian patients in accessing these tests and propose strategies to improve accessibility. The methodology consisted of a review of recent studies on the genetic diagnosis of hereditary syndromes, considering technical, scientific, economic, and cultural aspects. The main results highlighted the limited availability of genetic tests in the public health system, the lack of coverage by private insurance, and the scarcity of professionals trained in genetic counseling. The discussions emphasized the variation in detecting genetic mutations due to the diversity of the Brazilian population and regional disparities in the availability of specialized services. It was concluded that there is an urgent need for inclusive health policies and tailored strategies to address these challenges. Recommendations included developing more effective screening strategies, studying genetic mutations in mixed populations, specific cost-effectiveness models, and adopting advanced genetic sequencing technologies. These measures can not only improve diagnostic accuracy and management of hereditary syndromes but also reduce the economic and social impact of hereditary cancer in Brazil.