{"created":"2021-03-01T06:07:35.040455+00:00","id":3750,"links":{},"metadata":{"_buckets":{"deposit":"9bb20d98-4fd7-427b-8b8d-3dabb1562364"},"_deposit":{"id":"3750","owners":[],"pid":{"revision_id":0,"type":"depid","value":"3750"},"status":"published"},"_oai":{"id":"oai:soar-ir.repo.nii.ac.jp:00003750","sets":["461:462"]},"author_link":["6790","6791","6792","6793","6794","6795","6796","6797","6798"],"control_number":"3750","item_1628147817048":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_6_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2013-08","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"8","bibliographicPageEnd":"563","bibliographicPageStart":"560","bibliographicVolumeNumber":"58","bibliographic_titles":[{"bibliographic_title":"JOURNAL OF HUMAN GENETICS"}]}]},"item_6_description_20":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"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.","subitem_description_type":"Abstract"}]},"item_6_description_30":{"attribute_name":"資源タイプ（コンテンツの種類）","attribute_value_mlt":[{"subitem_description":"Article","subitem_description_type":"Other"}]},"item_6_description_5":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"JOURNAL OF HUMAN GENETICS. 58(8):560-563 (2013)","subitem_description_type":"Other"}]},"item_6_link_3":{"attribute_name":"信州大学研究者総覧へのリンク","attribute_value_mlt":[{"subitem_link_text":"Sekijima, Yoshiki","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html"},{"subitem_link_text":"Yoshida, Kunihiro","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html"},{"subitem_link_text":"Tamai, Mariko","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.WhAVuhkV.html"},{"subitem_link_text":"Kosho, Tomoki","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.uhfpuakh.html"},{"subitem_link_text":"Wakui, Keiko","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.gVymuakh.html"},{"subitem_link_text":"Fukushima, Yoshimitsu","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.OUnVuUkh.html"}]},"item_6_link_67":{"attribute_name":"WoS","attribute_value_mlt":[{"subitem_link_url":"http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000323595800011"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"NATURE PUBLISHING GROUP"}]},"item_6_relation_47":{"attribute_name":"PubMed","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"23635952"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://pubmed.ncbi.nlm.nih.gov/23635952","subitem_relation_type_select":"PMID"}}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1038/jhg.2013.34"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1038/jhg.2013.34","subitem_relation_type_select":"DOI"}}]},"item_6_rights_62":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright© 2013 The Japan Society of Human Genetics"}]},"item_6_source_id_35":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1434-5161","subitem_source_identifier_type":"PISSN"}]},"item_6_source_id_40":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA11206160","subitem_source_identifier_type":"NCID"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Tanaka,  Keiko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sekijima,  Yoshiki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yoshida,  Kunihiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tamai,  Mariko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kosho,  Tomoki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sakurai,  Akihiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Wakui,  Keiko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ikeda,  Shu-ichi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Fukushima,  Yoshimitsu","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2015-09-24"}],"displaytype":"detail","filename":"J_HUM_GEN58_560.pdf","filesize":[{"value":"530 KB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Follow-up_nationwide_survey_predictive_ genetic_testing.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/3750/files/J_HUM_GEN58_560.pdf"},"version_id":"c368524b-6934-4147-a56a-fde3e5f2eeaa"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"clinical geneticist","subitem_subject_scheme":"Other"},{"subitem_subject":"clinical psychologist","subitem_subject_scheme":"Other"},{"subitem_subject":"genetic counseling","subitem_subject_scheme":"Other"},{"subitem_subject":"genetic counselor","subitem_subject_scheme":"Other"},{"subitem_subject":"hereditary neurological diseases","subitem_subject_scheme":"Other"},{"subitem_subject":"predictive genetic testing","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["462"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2014-06-09"},"publish_date":"2014-06-09","publish_status":"0","recid":"3750","relation_version_is_last":true,"title":["Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan"],"weko_creator_id":"1","weko_shared_id":3},"updated":"2022-12-14T04:39:39.298751+00:00"}