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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan

http://hdl.handle.net/10091/17574
http://hdl.handle.net/10091/17574
e4e77462-eb15-40c5-97eb-03d9b5f50337
名前 / ファイル ライセンス アクション
J_HUM_GEN58_560.pdf Follow-up_nationwide_survey_predictive_ genetic_testing.pdf (530 KB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2014-06-09
タイトル
言語 en
タイトル Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
言語
言語 eng
キーワード
主題Scheme Other
主題 clinical geneticist
キーワード
主題Scheme Other
主題 clinical psychologist
キーワード
主題Scheme Other
主題 genetic counseling
キーワード
主題Scheme Other
主題 genetic counselor
キーワード
主題Scheme Other
主題 hereditary neurological diseases
キーワード
主題Scheme Other
主題 predictive genetic testing
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Tanaka, Keiko

× Tanaka, Keiko

WEKO 6790

en Tanaka, Keiko

Search repository
Sekijima, Yoshiki

× Sekijima, Yoshiki

WEKO 6791

en Sekijima, Yoshiki

Search repository
Yoshida, Kunihiro

× Yoshida, Kunihiro

WEKO 6792

en Yoshida, Kunihiro

Search repository
Tamai, Mariko

× Tamai, Mariko

WEKO 6793

en Tamai, Mariko

Search repository
Kosho, Tomoki

× Kosho, Tomoki

WEKO 6794

en Kosho, Tomoki

Search repository
Sakurai, Akihiro

× Sakurai, Akihiro

WEKO 6795

en Sakurai, Akihiro

Search repository
Wakui, Keiko

× Wakui, Keiko

WEKO 6796

en Wakui, Keiko

Search repository
Ikeda, Shu-ichi

× Ikeda, Shu-ichi

WEKO 6797

en Ikeda, Shu-ichi

Search repository
Fukushima, Yoshimitsu

× Fukushima, Yoshimitsu

WEKO 6798

en Fukushima, Yoshimitsu

Search repository
信州大学研究者総覧へのリンク
氏名 Sekijima, Yoshiki
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
氏名 Yoshida, Kunihiro
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
氏名 Tamai, Mariko
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
氏名 Kosho, Tomoki
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
氏名 Wakui, Keiko
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
氏名 Fukushima, Yoshimitsu
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.OUnVuUkh.html
出版者
出版者 NATURE PUBLISHING GROUP
引用
内容記述タイプ Other
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
抄録
内容記述タイプ Abstract
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)
内容記述タイプ Other
内容記述 Article
ISSN
収録物識別子タイプ PISSN
収録物識別子 1434-5161
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AA11206160
PubMed
識別子タイプ PMID
関連識別子 https://pubmed.ncbi.nlm.nih.gov/23635952
関連名称 23635952
DOI
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/jhg.2013.34
関連名称 10.1038/jhg.2013.34
権利
権利情報 Copyright© 2013 The Japan Society of Human Genetics
出版タイプ
出版タイプ AM
出版タイプResource http://purl.org/coar/version/c_ab4af688f83e57aa
WoS
表示名 Web of Science
URL http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000323595800011
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