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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.
Affiliation
  • Tanaka K; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
J Hum Genet ; 58(8): 560-3, 2013 Aug.
Article in En | MEDLINE | ID: mdl-23635952
ABSTRACT
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.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Health Surveys / Genetic Diseases, Inborn / Nervous System Diseases Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: Japan

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Health Surveys / Genetic Diseases, Inborn / Nervous System Diseases Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: Japan