[How do we manage genetic testing for neurodegenerative diseases?].
With an expanding knowledge about the genetic bases of diseases, genetic testing has become popular in clinical practice. There is no doubt that genetic testing is a powerful diagnostic tool for neurodegenerative diseases, but patient's test results can have a psychosocial impact on both the patient and their relatives. Test results may reveal a genetic risk to family members, and prompt them to have predictive or prenatal genetic testing. Thus, genetic counseling should be carefully conducted along with genetic testing, even for symptomatic individuals. During pre-test counseling sessions, we should clarify the clinical benefits and disadvantages of testing and whom the test results are disclosed to. Post-test follow-up will be needed to help the patient and their relatives cope with the test results. To provide effective psychosocial support, neurologists need to cooperate with clinical psychologists and genetic counselors. Furthermore, neurologists involved in genetic testing are required to have much more information on disease frequency, natural course, and therapeutic options for neurodegenerative diseases in order to enhance the clinical benefits of genetic testing. The guideline for the genetic testing for neurological diseases will shortly be recommended by the Japanese Society of Neurology to its members.
Yoshida
Kunihiro
K
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine.
D005190:Family; D005817:Genetic Counseling; D006801:Humans; D025202:Molecular Diagnostic Techniques; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000235:genetics*; D009462:Neurology; D010819:Physician's Role; D011296:Prenatal Diagnosis; D012944:Social Support