National survey of presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases—system development for after the establishment of therapies—
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- M.PH., Ph.D. Shibata Yuka
- Division of Clinical Genetics, Hokkaido University Hospital
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- M.D., Ph.D. Matsushima Masaaki
- Division of Clinical Genetics, Hokkaido University Hospital Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University
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- M.A. Kato Momoko
- Division of Clinical Genetics, Hokkaido University Hospital
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- M.A. Chang Hyangri
- Department of Genomic Medicine, The University of Tokyo Hospital
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- M.D., Ph.D. Nakamura Katsuya
- Center for Medical Genetics, Shinshu University Hospital Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
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- M.D., Ph.D. Oda Katsutoshi
- Department of Genomic Medicine, The University of Tokyo Hospital
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- M.D., Ph.D. Yoshida Kunihiro
- Department of Neurology, Kakeyu Hospital, Kakeyu-Misayama Rehabilitation Center
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- M.D., Ph.D. Sekijima Yoshiki
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
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- M.D., Ph.D. Toda Tatsushi
- Department of Genomic Medicine, The University of Tokyo Hospital Department of Neurology, Graduate School of Medicine, University of Tokyo
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- M.D., Ph.D. Yabe Ichiro
- Division of Clinical Genetics, Hokkaido University Hospital Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University
Bibliographic Information
- Other Title
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- 成人発症の遺伝性神経・筋疾患における発症前診断の全国調査―治療法確立時代の体制構築に向けて―
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Description
<p>As therapies for hereditary neuromuscular diseases are developed, the need for presymptomatic genetic testing and genetic counseling for early treatment is expected to increase. In Japan, there is no uniformly recommended protocol for presymptomatic genetic testing. In order to provide basic data for the establishment of a presymptomatic genetic testing system, we surveyed medical genetics departments in Japan about their current status (response rate: 67.4%). The questionnaire survey revealed that approximately 60% of facilities had established their own procedures for presymptomatic genetic testing, but the approaches used varied from facility to facility. The interview survey enabled us to identify the essential factors for the establishment of a presymptomatic genetic testing system for each case, each facility, and at the overall level. In the future, there is a need to develop a standardized protocol to help establish a presymptomatic genetic testing system.</p>
Journal
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- Rinsho Shinkeigaku
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Rinsho Shinkeigaku 62 (10), 773-780, 2022
Societas Neurologica Japonica
