Rinsho Shinkeigaku (Clinical Neurology)

Original Article

National survey of presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases -system development for after the establishment of therapies-

Yuka Shibata, M.PH., Ph.D.1), Masaaki Matsushima, M.D., Ph.D.1)2), Momoko Kato, M.A.1), Hyangri Chang, M.A.3), Katsuya Nakamura, M.D., Ph.D.4)5), Katsutoshi Oda, M.D., Ph.D.3), Kunihiro Yoshida, M.D., Ph.D.6), Yoshiki Sekijima, M.D., Ph.D.5), Tatsushi Toda, M.D., Ph.D.3)7) and Ichiro Yabe, M.D., Ph.D.1)2)

1) Division of Clinical Genetics, Hokkaido University Hospital
2) Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University
3) Department of Genomic Medicine, The University of Tokyo Hospital
4) Center for Medical Genetics, Shinshu University Hospital
5) Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
6) Department of Neurology, Kakeyu Hospital, Kakeyu-Misayama Rehabilitation Center
7) Department of Neurology, Graduate School of Medicine, University of Tokyo

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.
Supplementary data
Supplementary Figure 1: Number of clients conducting presymptomatic genetic testing by each
Supplementary Table 1: In each region, the numbers of facilities that performed presymptomatic
Full Text of this Article in Japanese PDF (1467K)

(CLINICA NEUROL, 62: 773−780, 2022)
key words: presymptomatic genetic testing, disease-modifying therapy, genetic counseling, protocol

(Received: 7-Apr-22)