Muscular dystrophies are neuromuscular diseases and heterogeneous neuromuscular disorders that share similar clinical features and dystrophic changes on muscle biopsy. Genetic counsellors assess clients' patients for a variety of inherited conditions, such as birth defects. They review genetic test results with individuals and families and support them in making decisions based on those results. In this study, we examine the impact of the absence of genetic counselling on patients with muscular dystrophies. 168 patients with MDs aged 18 to 58 were asked to complete the Genomics Outcome Scale, which consists of six items. Several cognitive, decisional, behavioural, and emotional control items are included, as well as items assessing their ability to plan for the future. There have been two groups of participants (muscular dystrophies patients), one group has consulted with a genetic counsellor (GC), and the other group has not consulted with GC. The results determine that lack of knowledge about family risk in the group not visited GC 81% with a p-value of 0.000. In addition, visiting a genetic counsellor had a significant impact on different aspects of managing disease, making decisions, and planning for the future. 17% of MDs who had visited GC and were single feel neutral, neither agreeing nor disagreeing that they can make decisions regarding their health. It is important to consider the impact of genetic counselling on MDs. Genetic counselling involves helping individuals understand and adapt to the psychological, psychological, and familial implications of a gene's influence on disease.
Copyright © 2024 Archives of Pharmacy Practice. Authors retain copyright of their article if they are accepted for publication.
Developed by Archives of Pharmacy Practice