Abstract
Genetic diagnoses are becoming a routine in the medical practice of neuromuscular diseases. Many diagnoses, however, can have an influence on relatives and family members and thus must be handled carefully by genetic counseling (GC). Here, we aimed to assess the purpose of undergoing GC to verify the utility of collaborations between clinical and genetic divisions. We investigated consecutive GC cases of neuromuscular disease and examined the role of GC. Our study included 102 cases who underwent GC in our hospital from July 2005 to March 2018: 86.3% were women and 45.1% were in their 30’s. Disease explanation was the most common reason for attending GC (29.4%), followed by prenatal diagnosis (25.5%), pre-symptomatic diagnosis (17.6%), and carrier diagnosis (14.7%). Clients typically visited the hospital for GC when some kind of life event occurred, such as marriage, had a desire to bear a child, or a change in the condition of the proband. Clinicians should be conscious of such life events from the perspective of both the client and their relatives, and guide the GC at an appropriate time. Overall, the degree of recognition of genetic risk by clients differed; thus, it is important for GC to determine the status of each unique situation and respond individually.
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We thank all of the clients for their active cooperation. The manuscript has been carefully reviewed by an experienced medical editor of NAI inc., whose first language is English.
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Shibata, Y., Yabe, I., Matsushima, M. et al. Investigating the role of genetic counseling in neuromuscular disease considering life events. J Hum Genet 64, 551–559 (2019). https://doi.org/10.1038/s10038-019-0590-8
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DOI: https://doi.org/10.1038/s10038-019-0590-8
