Dados do Trabalho

Título

Genetic counseling and empowerment in women with pathogenic variants associated with Duchenne and Becker Muscular Dystrophy

Resumo

Introduction: In recent years, with the emergence of next-generation sequencing and advanced therapies for Duchenne muscular dystrophy (DMD), access to genetic testing for diagnostic confirmation and detection of mutations amenable to specific therapies has been expanded in Brazil. Such programs favor genetic testing of boys with DMD and Becker muscular dystrophy (BMD) suspicion, with little attention being given to women testing.

Objectives: to evaluate the process of genetic counseling and empowerment of genetic information for women at risk of carrying variants related to DMD/BMD in Brazil.

Methods: a cross-sectional study was carried-out, in which an online questionnaire was applied through Google Forms with the application of the Genomic Outcome Scale (GOS) that evaluates empowerment of genetic information. The main inclusion criteria were being female and being at risk of carrying or being known to carry variants that cause DMD/BMD.

Results: Ninety-five participants were included, with a mean age of 41.6 years. In 72.6% of the cases, genetic testing was offered, with 60% of them reporting having performed the test and of those who did not, 87.3% mentioned they would have liked to perform it. 63.2% said they received genetic counseling and 68% decided not to have children after being diagnosed as a carrier. The mean GOS score was 20.03 (4.1) points. There was a difference in the GOS regarding schooling (p=0.021), with greater empowerment of women with complete higher education compared to those with complete elementary school or lower education (p=0.017). Per capita family income correlated with GOS (R=0.338, p=0.008), with higher income being associated with greater empowerment, as well as women who participated in patient associations had higher GOS scores (2.72 points, 95% CI -0.90 to 4.55, p=0.004).

Conclusion: Our research found that most of the women interviewed have genetic empowerment to deal with the diagnosis of their children; however, they do not have it to deal with the prevention and care of dystrophies in themselves. It is necessary to instruct and refer these women about the manifestation of DMDs in their bodies, in order to prevent complications, and so that they can obtain a better quality of life.

Palavras Chave

Genetic counseling empowerment DMD BMD