Rinsho Shinkeigaku (Clinical Neurology)

Original Article

Survey on the attitude toward genetic testing of neurologists certified by the Japanese Society of Neurology

Kunihiro Yoshida, M.D.1), Takako Ohata, M.D.2), Kaori Muto, Ph.D.3), Atsushi Tsuchiya, Ph.D.4), Jinichi Sawada, M.D.5), Takanori Hazama, M.D.5), Shu-ichi Ikeda, M.D.6) and Tatsushi Toda, M.D.7)

1)Department of Brain Disease Research, Shinshu University School of Medicine
2)Department of Obstetrics, Perinatal Center, Okinawa Chubu Hospital
3)Division of Public Policy, Human Genome Center, Institute of Medical Science, The University of Tokyo
4)Department of Biomedical Ethics, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo
5)Department of Neurology, Osaka Prefectural General Medical Center
6)Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine
7)Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine

To clarify the attitude toward genetic testing for neuromuscular diseases, a questionnaire was sent to 4,762 neurologists certified by the Japanese Society of Neurology. By December 21, 2011, 1,493 questionnaires (31.4%) were returned. Of these, 1,233 (82.6%) had experienced genetic testing, but only 396 (26.5%) had referred to the guideline for genetic testing of the Japanese Society of Neurology (2009). The numbers of respondents who were positive, or more positive than negative for genetic testing for myotonic dystrophy type 1 (DM1), Huntington's disease (HD), and familial amyloid polyneuropathy (FAP) were 753 (50.4%), 915 (61.3%), and 980 (65.6%), respectively. The predominant reason for a positive attitude toward genetic testing was to confirm or exclude the diagnosis. Conversely, the predominant reason for a negative attitude toward genetic testing differed between the diseases. For DM1, it was to confirm the diagnosis without genetic testing. For HD, it was that genetic testing would not result in effective prevention or therapy. In FAP, it was that post-testing psychosocial support for the patient and their family was difficult. Common to DM1, HD, and FAP, a significant number of respondents (approximately 60%) felt it difficult to explain the negative aspects that might occur after the disclosure of test results. Concerning predictive or prenatal genetic testing, most respondents referred at-risk individuals to specialized genetic counseling clinics. In general, neurologists are likely to conduct genetic testing properly in consideration not only of the characteristics of the diseases but also of the circumstances of each patient and his or her family. To support neurologists who are involved in genetic testing, the guidelines should be more easily accessible. Many respondents wanted information on the institutions that provide genetic counseling and testing; however, financial support to such institutions is indispensable for fulfilling this requirement.
Full Text of this Article in Japanese PDF (950K)

(CLINICA NEUROL, 53: 337|344, 2013)
key words: genetic testing, guideline, genetic counseling, informed consent, psychosocial support

(Received: 20-Apr-12)