Survey on the involvement of Japanese neurologists in genetic medicine

With the advancement of genetic medicine, opportunities to perform genetic testing in neurology practice are increasing. To address this trend, we conducted a survey on the involvement of neurologists in genetic medicine. A total of 658 respondents (9.6%) participated, and 94.4% reported experience in performing genetic testing. The increased opportunity to perform genetic testing was attributed to the recent emergence of disease-modifying therapies, which are beneficial for the early diagnosis and treatment of patients, as well as the growing need to consider reproductive options such as prenatal testing and preimplantation genetic testing for monogenic disorders. Educational opportunities aimed at improving the genetic medicine skills of all neurologists are urgently needed.