Item type |
学術雑誌論文 / Journal Article(1) |
公開日 |
2014-06-09 |
タイトル |
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タイトル |
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan |
言語 |
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言語 |
eng |
DOI |
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関連識別子 |
https://doi.org/10.1038/jhg.2013.34 |
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関連名称 |
10.1038/jhg.2013.34 |
キーワード |
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主題 |
clinical geneticist, clinical psychologist, genetic counseling, genetic counselor, hereditary neurological diseases, predictive genetic testing |
資源タイプ |
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資源 |
http://purl.org/coar/resource_type/c_6501 |
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タイプ |
journal article |
著者 |
Tanaka, Keiko
Sekijima, Yoshiki
Yoshida, Kunihiro
Tamai, Mariko
Kosho, Tomoki
Sakurai, Akihiro
Wakui, Keiko
Ikeda, Shu-ichi
Fukushima, Yoshimitsu
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信州大学研究者総覧へのリンク |
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氏名 |
Sekijima, Yoshiki |
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URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html |
信州大学研究者総覧へのリンク |
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氏名 |
Yoshida, Kunihiro |
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URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html |
信州大学研究者総覧へのリンク |
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氏名 |
Tamai, Mariko |
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URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.WhAVuhkV.html |
信州大学研究者総覧へのリンク |
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氏名 |
Kosho, Tomoki |
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URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.uhfpuakh.html |
信州大学研究者総覧へのリンク |
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氏名 |
Wakui, Keiko |
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URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.gVymuakh.html |
信州大学研究者総覧へのリンク |
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氏名 |
Fukushima, Yoshimitsu |
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URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.OUnVuUkh.html |
出版者 |
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出版者 |
NATURE PUBLISHING GROUP |
引用 |
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内容記述 |
JOURNAL OF HUMAN GENETICS. 58(8):560-563 (2013) |
書誌情報 |
JOURNAL OF HUMAN GENETICS
巻 58,
号 8,
p. 560-563,
発行日 2013-08
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抄録 |
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内容記述 |
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. |
資源タイプ(コンテンツの種類) |
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内容記述 |
Article |
ISSN |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
1434-5161 |
書誌レコードID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA11206160 |
PubMed |
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関連識別子 |
https://pubmed.ncbi.nlm.nih.gov/23635952 |
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関連名称 |
23635952 |
権利 |
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権利情報 |
Copyright© 2013 The Japan Society of Human Genetics |
出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
WoS |
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URL |
http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000323595800011 |