open access

https://hdl.handle.net/2115/75442

Investigating the role of genetic counseling in neuromuscular disease considering life events

英語

2019-03-13

Nature Research

Journal of Human Genetics

64

551-559

Genetic diagnoses are becoming 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, desire to bear a child, or change in 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.

学術雑誌論文

Accepted Manuscript

This is a post-peer-review, pre-copyedit version of an article published in Journal of Human Genetics. The final authenticated version is available online at: http://dx.doi.org/10.1038/s10038-019-0590-8

1434-5161