Rinsho Shinkeigaku (Clinical Neurology)

Symposium 1

The present state of predictive genetic testing for neuromuscular diseases: An overview by a neurologist in a local hospital

Hiroyuki Ohmori, M.D., Ph.D.1)

1)Neurology, Yamaga Chuo Hospital

Genetic tests for asymptomatic persons, who have family members with hereditary neuromuscular diseases, should be done carefully by following strict rules. For example, an examinee should be given a clear plan for clinicopsychological and social support services in case of testing positive. It is very important to assess the potential impact of genetic test results, so the anticipatory guidance should be provided times without number. It is difficult for local hospitals however, to fulfill such conditions during a primary genetic counseling, as they have limited staff. Our hospital is a case in point, where just one neurologist, who is also a certified clinical geneticist, provides the counseling, with the help of nurses, and social workers. The availability of second and third level genetic counseling systems have made it possible for us to carry out primary counseling, and we make every effort to ensure that clients and patients can avail our services any time, and without any constraints. In my opinion, a comprehensive education system to train primary care physicians in genetic testing and primary genetic counseling would prove beneficial for a lot of clients and also reduce the burden on neurologists.
Full Text of this Article in Japanese PDF (616K)

(CLINICA NEUROL, 53: 1000|1002, 2013)
key words: primary genetic counseling, predictive genetic testing, hereditary neuromuscular diseases, anticipatory guidance

(Received: 29-May-13)