2024-03-29T05:26:16Z
https://soar-ir.repo.nii.ac.jp/oai
oai:soar-ir.repo.nii.ac.jp:00003750
2022-12-14T04:39:39Z
461:462
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
Tanaka, Keiko
Sekijima, Yoshiki
Yoshida, Kunihiro
Tamai, Mariko
Kosho, Tomoki
Sakurai, Akihiro
Wakui, Keiko
Ikeda, Shu-ichi
Fukushima, Yoshimitsu
clinical geneticist
clinical psychologist
genetic counseling
genetic counselor
hereditary neurological diseases
predictive genetic testing
A follow-up nationwide survey on predictive genetic testing for late-onset neurological diseases in Japan was conducted. A questionnaire was sent to 89 institutional members of the Japan's National Liaison Council for Clinical Sections of Medical Genetics, and was returned by 60 (67.4%). A total of 301 clients with an interest in predictive testing were accumulated from April 2006 to March 2011. The greatest interest was shown for spinocerebellar degeneration (SCD, n = 110), followed by myotonic dystrophy type 1 (DM1, n = 69), Huntington's disease (HD, n = 52) and familial amyloid polyneuropathy (FAP, n = 35). The ratios of clients who actually underwent predictive testing were: SCD, 21.8%; DM1, 39.1%; HD, 26.9%; and FAP, 74.3%, indicating that predictive testing was conducted very cautiously for untreatable neurological diseases in Japan. Clinical geneticists were predominantly involved in genetic counseling, whereas the participation of non-medical doctor (non-MD) staff, including nurses, clinical psychologists and genetic counselors, was not common. Lack of non-MD counseling staff was one of the most serious issues in conducting predictive testing, which has not been improved since the previous survey performed in 2006. Institutional arrangements, such as revision of medical insurance system regarding genetic testing and counseling, might be necessary to resolve this issue.
Article
JOURNAL OF HUMAN GENETICS. 58(8):560-563 (2013)
journal article
NATURE PUBLISHING GROUP
2013-08
application/pdf
JOURNAL OF HUMAN GENETICS
8
58
560
563
1434-5161
AA11206160
https://soar-ir.repo.nii.ac.jp/record/3750/files/J_HUM_GEN58_560.pdf
eng
23635952
https://pubmed.ncbi.nlm.nih.gov/23635952
10.1038/jhg.2013.34
https://doi.org/10.1038/jhg.2013.34
Copyright© 2013 The Japan Society of Human Genetics