遺伝子診断（検査）の最新の話題

Abstract

In recent years, a genetic testing has become widely used in the medical fields. It gives more information than classical clinical testing, and the information is used for diagnosis and medical treatment of diseases. Nevertheless, most genetic testings employed in a routine clinical testing is for screening of infectious diseases (nucleic acid-based testing), but are not yet commonly prevalent in the fields of human genetic testing, so-called genomic testing. On the contrast, because of the studies on human genome along with advancement in molecular biological technologies, some genes associating with cancers and common diseases were identified, and they are being applied to clinical medicine. As a future trend for practical use and common prevalence, human genetic testing would take 3 directions of tests for personalized medicine (companion diagnostics), screening tests (targeted screening), and standardization of tests. Here we introduce the latest R&D activities for a human genetic test at Roche Diagnostics K.K.