遺伝カウンセリングの役割とHuntington病の発症前診断―当院での事例から

抄録

With the development of genomic medicine, genetic testing has been implemented in various areas of medical practice in Japan. For intractable hereditary neurological diseases like Huntington's disease, genetic counseling has played a pivotal role for the patient's relatives because of the possibility of future disease onset. In this article, we present a case of presymptomatic diagnosis of Huntington's disease at our hospital and explain the nature and role of genetic counseling to help clients make better choices.