1. National survey of presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases—system development for after the establishment of therapies
- Author
-
Yuka, Shibata, Masaaki, Matsushima, Momoko, Kato, Hyangri, Chang, Katsuya, Nakamura, Katsutoshi, Oda, Kunihiro, Yoshida, Yoshiki, Sekijima, Tatsushi, Toda, and Ichiro, Yabe
- Subjects
Adult ,Japan ,Surveys and Questionnaires ,Humans ,Genetic Counseling ,Genetic Testing ,Neuromuscular Diseases ,Neurology (clinical) - Abstract
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.
- Published
- 2022
- Full Text
- View/download PDF