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Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies

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Abstract

The emergence of therapies acting on specific molecular targets for Duchenne and Becker muscular dystrophies (DBMD) led to expanded access of diagnostic DMD analysis. However, it is unclear how much of these advances have also improved healthcare and access to genetic testing for women at-risk of being carriers. This study evaluates the process of genetic counseling and empowerment of genetic information by women from DBMD families. We carried out a cross-sectional study between February and June 2022 in Brazil. The online survey with items regarding sociodemographic data; family history; access to health services; reproductive decisions; and the Genomic Outcome Scale was answered by 123 women recruited from a rare diseases reference service and a nationwide patient advocacy group. Genetic counseling was reported by 77/123 (62.6%) of women and 53.7% reported having performed genetic analysis of DMD. Although the majority knew about the risks for carriers of developing heart disease and muscle weakness, only 35% of potential carriers have had cardiac studies performed at least once in their lives. Country region, type of kinship, number of affected males in the family, age, notion of genetic risk, education level, and participation in advocacy groups were the main factors associated with adequate healthcare access to women and empowerment of genetic information. Education to health professionals and policies to expand access to carrier genetic testing, whether public policies or regulation of pharmaceutical companies’ diagnostic programs, is paramount to improve the care of families with DBMD in Brazil.

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Data not provided in the article because of space limitations may be shared (anonymized) at the request of any qualified investigator for purposes of replicating procedures and results.

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Acknowledgements

We thank particularly, Karina Hamada Iamasaqui Züge, the President of Aliança Distrofia Brasil, and all the participating women in this research from Duchenne and Becker muscular dystrophies families in Brazil.

Funding

There was no specific funding for this project. Saute JA is supported by CNPq (303158/2020–4).

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Author notes

  1. Cesar Augusto Weschenfelder and Bruna Faria Rosa contributed equally to this work.

Authors and Affiliations

  1. Graduate Program in Medicine: Medical Sciences, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, Brazil

    Alice Maria Luderitz Hoefel & Jonas Alex Morales Saute

  2. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil

    Cesar Augusto Weschenfelder, Bruna Faria Rosa, Karina Carvalho Donis & Jonas Alex Morales Saute

  3. Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil

    Jonas Alex Morales Saute

  4. Department of Internal Medicine, UFRGS, Porto Alegre, Brazil

    Jonas Alex Morales Saute

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  1. Alice Maria Luderitz Hoefel
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  2. Cesar Augusto Weschenfelder
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Contributions

Hoefel AML participated in the design, acquisition, and interpretation of data, and reviewing of the manuscript; Weschenfelder CA participated in the acquisition and interpretation of data and reviewing the manuscript; Rosa BF participated in the acquisition and interpretation of data and reviewing the manuscript; Donis KC participated in acquisition of data and reviewing the manuscript; Saute JA participated in the design, interpretation, analysis of data, and drafting the manuscript.

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Correspondence to Jonas Alex Morales Saute.

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Hoefel, A.M.L., Weschenfelder, C.A., Rosa, B.F. et al. Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies. J Community Genet 15, 163–175 (2024). https://doi.org/10.1007/s12687-023-00695-3

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