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J-GLOBAL ID：201802270434248997   整理番号：18A1154964

西オーストラリア公衆衛生システムにおける未診断疾患プログラムの開始【JST・京大機械翻訳】

Initiating an undiagnosed diseases program in the Western Australian public health system

著者 (68件)： Baynam Gareth (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Baynam Gareth (School of Paediatrics and Child Health, University of Western Australia, Perth, Australia) ,  Baynam Gareth (Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia) ,  Baynam Gareth (Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia) ,  Baynam Gareth (Telethon Kids Institute, University of Western Australia, Perth, Australia) ,  Baynam Gareth (Western Australian Register of Developmental Anomalies, Perth, Australia) ,  Baynam Gareth (School of Spatial Sciences, Curtin University, Perth, Australia) ,  Broley Stephanie (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Bauskis Alicia (Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia) ,  Pachter Nicholas (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Pachter Nicholas (School of Paediatrics and Child Health, University of Western Australia, Perth, Australia) ,  McKenzie Fiona (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  McKenzie Fiona (School of Paediatrics and Child Health, University of Western Australia, Perth, Australia) ,  Townshend Sharron (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Slee Jennie (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Kiraly-Borri Cathy (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Vasudevan Anand (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Hawkins Anne (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Schofield Lyn (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Schofield Lyn (Centre for Comparative Genomics, Murdoch University, Perth, Australia) ,  Helmholz Petra (School of Spatial Sciences, Curtin University, Perth, Australia) ,  Helmholz Petra (Cooperative Research Centre for Spatial Information, Perth, Australia) ,  Palmer Richard (School of Spatial Sciences, Curtin University, Perth, Australia) ,  Palmer Richard (Cooperative Research Centre for Spatial Information, Perth, Australia) ,  Kung Stefanie (School of Spatial Sciences, Curtin University, Perth, Australia) ,  Kung Stefanie (Cooperative Research Centre for Spatial Information, Perth, Australia) ,  Walker Caroline E. (Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia) ,  Molster Caron (Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia) ,  Lewis Barry (Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Australia) ,  Mina Kym (Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Australia) ,  Mina Kym (School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia) ,  Beilby John (Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Australia) ,  Beilby John (School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia) ,  Pathak Gargi (Perth Children’s Hospital, Perth, Australia) ,  Poulton Cathryn (Perth Children’s Hospital, Perth, Australia) ,  Groza Tudor (Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, Australia) ,  Groza Tudor (St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, Australia) ,  Zankl Andreas (Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, Australia) ,  Zankl Andreas (The Children’s Hospital at Westmead, Clinical Genetics Service, Westmead, Australia) ,  Roscioli Tony (Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, Australia) ,  Roscioli Tony (St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, Australia) ,  Dinger Marcel E. (Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, Australia) ,  Mattick John S. (Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, Australia) ,  Mattick John S. (St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, Australia) ,  Gahl William (National Human Genome Research Institute, National Institutes of Health, Bethesda, Rockville, USA) ,  Gahl William (Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Rockville, USA) ,  Groft Stephen (National Centre for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA) ,  Tifft Cynthia (National Human Genome Research Institute, National Institutes of Health, Bethesda, Rockville, USA) ,  Tifft Cynthia (Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Rockville, USA) ,  Taruscio Domenica (Instituto Superiore di Sanita, National Center for Rare Diseases, Rome, Italy) ,  Lasko Paul (Canadian Institutes of Health Research, Institute of Genetics, Montreal, Canada) ,  Kosaki Kenjiro (Keio University School of Medicine, Tokyo, Japan) ,  Wilhelm Helene (Wilhelm Foundation, Brottby, Sweden) ,  Melegh Bela (Department of Medical Genetics, University of Pecs, Pecs, Hungary) ,  Carapetis Jonathan (Telethon Kids Institute, University of Western Australia, Perth, Australia) ,  Carapetis Jonathan (Perth Children’s Hospital, Perth, Australia) ,  Jana Sayanta (King Edward Memorial Hospital, Perth, Australia) ,  Chaney Gervase (Perth Children’s Hospital, Perth, Australia) ,  Johns Allison (King Edward Memorial Hospital, Perth, Australia) ,  Owen Peter Wynn (King Edward Memorial Hospital, Perth, Australia) ,  Daly Frank (Perth Children’s Hospital, Perth, Australia) ,  Weeramanthri Tarun (Public Health Division, Department of Health, Government of Western Australia, Perth, Australia) ,  Dawkins Hugh (Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia) ,  Dawkins Hugh (Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Australia) ,  Dawkins Hugh (School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia) ,  Dawkins Hugh (Centre for Comparative Genomics, Murdoch University, Perth, Australia) ,  Goldblatt Jack (Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Australia) ,  Goldblatt Jack (School of Paediatrics and Child Health, University of Western Australia, Perth, Australia)
資料名： Orphanet Journal of Rare Diseases (Web)  (Orphanet Journal of Rare Diseases (Web))
巻： 12  号： 1  ページ： 83  発行年： 2017年 
JST資料番号： U7532A  ISSN： 1750-1172  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： 【背景】複雑な診断されていない疾患患者のニーズに対処するために,新しいアプローチが必要である。これらのアプローチは,臨床的ゲノム診断パイプラインを含み,また,特殊特異的ゲノムクリニックと同様に,学際的プラットフォームを利用する。両者は診断率を向上させている。しかしながら,相補的な学際的アプローチは,複数の特殊性の限界を横断し,既存の特殊性とゲノムに焦点を合わせたアプローチにもかかわらず,診断されていない多システム障害を有する患者を扱うためにも重要である。非診断疾患の診断可能性は,遺伝的および非遺伝的条件を含む。遺伝的疾患への焦点はこれらの疾患のいくつかに取り組んでいるが,他の障害型を同時に扱うためには学際的アプローチが必要である。ここでは,複雑な診断されていない患者に対する公衆衛生システムアプローチの開始と要約の結果について述べる:診断されていないDises Program-Western オーストラリア(UDP-WA)。【結果】UDP-WAは以下の通りである:1)健康サービスの中で提供されている補完的なアプローチの一つ,およびコミュニティの関与により,重篤な診断されていない疾患を有する人々のニーズに対処する。2)公衆衛生システムの中で提供され,遠隔地域と地域からの人々を含む健康管理への公平なアクセスを支援する。III)診断と患者ケアの改善;IV)多様な専門分野を横断する臨床医のためのサービスとリアルタイムのゲノムと生物学的教育のためのプラットフォームを提供する。V)臨床専門知識の保持と再構築;VI)中医学スタッフの教育を支援する。VIIは,臨床的トランスレーショナル研究と統合するように設計された;そして,患者,家族および医療スタッフに対するより大きな連結性を支えている。【結論】UDP-WAは,既存の臨床的ゲノムアプローチを補完するために,公衆衛生システムにおいて開始された。それは,特定の診断必要性を有するそれらを標的として,既存の臨床的および財政的資源を再指示することによって開始された。UDP-WAは,同等で持続可能な診断の提供を支援し,臨床ケアとトランスレーショナル研究における能力構築を同時にサポートし,診断されていない,典型的にはまれな条件である。Copyright 2018 The Author(s) All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 教育 ,  健康管理 ,  患者 ,  ゲノム ,  *西オーストラリア州 ,  境界領域 ,  遺伝子診断 ,  *オーストラリア連邦 ,  *公衆衛生 ,  再構成 ,  遺伝 ,  システムアプローチ ,  コミュニティ
準シソーラス用語： 健康 ,  特異性 , 【Automatic Indexing@JST】

著者キーワード (8件)： 診断 ,  ゲノミクス ,  フェノミクス ,  非診断 ,  診断オッセイ ,  臨床最善の実践 ,  政策 ,  精密公衆衛生

分類 (4件)： 感染症・寄生虫症の診断  (GD01020S) ,  遺伝的変異  (EC01030Y) ,  先天性疾患・奇形の診断  (GD03020G) ,  神経系の診断  (GN02000H)

引用文献 (18件)：

• Curr Opin Pediatr; The National Institutes of Health undiagnosed diseases program; CJ Tifft, DR Adams; 26; 6; 2014; 626-33; 10.1097/MOP.0000000000000155; CR1;
• Survey of the delay in diagnosis for 8 rare diseases in Europe (EurordisCare2). EURORDIS; 2007; CR2;
• Orphanet J Rare Dis; Survey of healthcare experiences of Australians living with rare diseases; C Molster, D Urwin, L Pietro, M Fookes, D Petrie, S Laan; 11; 2016; 30; 10.1186/s13023-016-0409-z; CR3;
• Mol Genet Metab; Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs; D Taruscio, SC Groft, H Cederroth, B Melegh, P Lasko, K Kosaki; 116; 4; 2015; 223-5; 10.1016/j.ymgme.2015.11.003; CR4;
• Orphanet J Rare Dis; The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service; G Baynam, N Pachter, F McKenzie, S Townshend, J Slee, C Kiraly-Borri; 11; 1; 2016; 77; 10.1186/s13023-016-0462-7; CR5;

タイトルに関連する用語 (3件)： 西オーストラリア ,  公衆衛生 ,  未診断疾患