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  会員専用

• ホーム
• 48巻11号
• 臨床神経, 48：884−887, 2008
• 48巻11号目次

第49回日本神経学会総会

＜教育講演10＞
神経変性疾患の遺伝子診断―臨床的有用性をどう評価するか?―

吉田　邦広

信州大学脳神経内科, リウマチ・膠原病内科〔〒390-8621　松本市旭3-1-1〕

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.
Full Text of this Article in Japanese PDF (403K)

(臨床神経, 48：884−887, 2008)
key words：神経変性疾患, 遺伝子診断, 遺伝カウンセリング, 臨床的有用性

（受付日：2008年5月17日）