[Present state of predictive genetic testing for neuromuscular diseases: an overview by a neurologist in a local hospital]

Rinsho Shinkeigaku. 2013;53(11):1000-2. doi: 10.5692/clinicalneurol.53.1000.
[Article in Japanese]

Abstract

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 clinico-psychological 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.

Publication types

  • English Abstract

MeSH terms

  • Anticipation, Genetic
  • Genetic Counseling*
  • Genetic Testing*
  • Hospitals
  • Humans
  • Japan
  • Neurology* / education
  • Neuromuscular Diseases / diagnosis*
  • Neuromuscular Diseases / genetics*
  • Physicians, Primary Care / education