Dados do Resumo

Título

KNOWLEDGE AND ACCEPTANCE OF GENETIC TESTING FOR HEREDITARY BREAST AND OVARIAN CANCER AMONG USERS OF A BREAST CANCER SCREENING SERVICE IN MACEIÓ, (ALAGOAS-BRAZIL)

Introdução

Breast cancer and ovarian cancer affect a large portion of the population worldwide, with a significant number of hereditary cases related to Hereditary Breast and Ovarian Cancer Syndrome (HBOC). The majority of HBOC originates from pathogenic variants of the BRCA1 and BRCA2 genes. The discovery of variants through genetic testing favors patient's prognosis, thus, the incorporation of these tests is a great gain in the management, surveillance and family screening of this genetic syndrome.

Objetivo

Identify the knowledge and perceptions about the use of genetic testing in hereditary syndromes in the population of Alagoas from a public breast cancer screening service.

Métodos

This is an observational, cross-sectional, quantitative and qualitative study, using a structured questionnaire, approved by the Research Ethics Committee of the State University of Health Sciences of Alagoas (approval number 6.166.705), applied in two screening services in the city of Maceió-Alagoas, during the period from August 2023 to April 2024. This analysis is part of a broader, exploratory study on the understanding of genetic predisposition to cancer among users of the Brazilian Unified Health System (SUS). Despite different approaches, both contribute to the investigation of the topic. The data were analyzed in relation to (1) basic knowledge about HBOC, (2) implications of pathogenic variants for its own and family risk, (3) purpose of genetic testing, and (4) scenarios of indication of genetic test and willingness to perform it.

Resultados

The study had 237 participants, with most females (208, 89.3%), with intermediate education (105, 45.7%) and between 40 and 50 years old (68, 29.8%). It was observed that only 58 (28.6%) had previous heard of HBOC. Although the majority stated that there are genes that increase the risk of tumorigenesis, only 12 (6.5%) participants stated they knew the genes related to the syndrome. Regarding risk factors, the majority identified family history as one of them. Among the participants, 42 (39.3%) had a correct understanding of the purpose of the genetic test. However, the majority indicated that it is a test that improves DNA or is used to find out if they will get cancer in the coming years. Finally, a large proportion stated that they would undoubtedly take the test if indicated. Conversely 10 (5.1%) participants would only undergo testing in case of a positive family history and 2 (1%) cases would not undergo testing due to fear of the result or not seeing benefits of it.

Conclusões

The population lacks basic information about the syndrome, which corroborates the limited understanding about genetic tests, negatively impacting the search for genetic counselling (oncogenetics) services by families with significant cancer history. The genetic testing is part of new strategies for approaching cancer, and therefore, their knowledge must effectively be shared, spread and popularized to improvemonitoring and management of the syndrome.

Financiador do resumo

FAPEAL - Fundação de Amparo à Pesquisa do Estado de Alagoas

Palavras Chave

Genetic Testing; Knowledge; Hereditary Breast and Ovarian Cancer Syndrome