Clinicoepidemiological analysis of genetic testing in 1,000 cases of hereditary neurological disorders

A total of 1,000 neurological patients were examined for genetic testings at the Department of Neurology, Okayama University, from 1992 to 2010. To investigate the role and significance of genetic testings in neurological diagnostic consultation, we divided the analysis period into two, the former period (1992 to 2000) and the latter period (2001 to 2010). The number of genetic testings was 669 cases in the former period, and 331 cases in the latter period. However, the positive rate of genetic testings was 25.3% in the former period, and 48.1% in the latter period. The reason of this remarkable rise of the positive rate in the latter period was mainly attributable to our feedback inquiry to the doctors from 2001, noticing them the total number of test in a year, positive rate with or without family history, and an encouragement to examine more clinical details of their patients. The genetic testing plays an essential role in clinical neurology. It is important that the application of genetic testing to each case should be considered more carefully and properly.