The role of genetic counseling and presymptomatic diagnosis in Huntington's disease : Case study in a university hospital

Abstract

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.