ADOPTION AND PERCEPTION OF GENETIC MAPPING IN BREAST CANCER: A PRELIMINARY AND EXPLORATORY SURVEY AMONG SPECIALISTS IN GOIÁS
DOI:
https://doi.org/10.66104/qhx4xy11Keywords:
Breast Cancer, BRCA1 Genes, BRCA2 Genes, Genetic TestingAbstract
Breast cancer is a neoplasm with a significant public health impact, with a proportion of cases associated with hereditary factors, mainly mutations in the BRCA1 and BRCA2 genes. The state of Goiás became a pioneer in Brazil by establishing, through Law No. 20,707/2020, free access to genetic testing for these mutations within the Brazilian Unified Health System (SUS). This study investigates the integration of genetic mapping from the perspective of local specialist physicians. An observational, cross-sectional study was conducted with a convenience sample of 16 physicians (oncologists, breast specialists, and geneticists) practicing in Goiás. A structured electronic questionnaire was used to assess knowledge, frequency of use, and perceived barriers related to genetic mapping. Data were analyzed using descriptive statistics. Most participants (93.8%) reported being aware of genetic mapping, but only 50% used it frequently. The main clinical criteria for ordering the test were diagnosis before the age of 40, direct family history, and triple-negative tumor before the age of 50. The most frequently cited barriers to not using the test were the perception of low usefulness (31.3%) and gaps in genetic counseling. The results point to a discrepancy between theoretical knowledge about testing and its practical application in clinical routine. Attitudinal and operational barriers, such as unfamiliarity with genetic counseling, appear to limit the effective incorporation of this tool, even when it is legally available. It is concluded that the effective implementation of genetic mapping for breast cancer in Goiás depends not only on access to the test, but also on overcoming practical barriers through professional training and the structuring of genetic counseling workflows.
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Copyright (c) 2026 Pedro Henrique Paulino Pereira de Souza, Isadora Alves Gamboa, Amanda Vitoria de Oliveira Lima, João Victor Martins Bordigoni, Ysabelle de Oliveira Saraiva , Aline de Araújo Freitas, Alisson Martins de Oliveira, Jalsi Tacon Arruda
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