Abstract
Sanger’s DNA sequencing method has been widely used for genetic testing. With continued advances in molecular biology this sequencing technique will likely be applied for medical diagnosis and therapy in the near future. The continued development of next-generation sequencing approaches will also allow for clinical sequencing and genetic mapping at the individual level. Despite these technical advances, there are inherent problems with genetic testing. In particular, it is difficult to determine if an identified polymorphism represents an inter-individual difference or is a causal mutation of a genetic disease, and the findings may have ethical and moral implications. In Japan, the genetic testing covered by national health insurance is limited to 36 genetic disorders. However, even with this relatively small number of disorders, there are high costs associated with genetic testing, as suitable facilities and trained personnel are required. Importantly, the results of the genetic screening must be accurate to allow for medical doctors and their clients and patients make informed decisions. To achieve these goals, it is necessary to maintain a database of genomic variations and associated clinical phenotypes, and have qualification standards for personnel. To this end, the Human Genome Variation Society (HGVS) was created as an international standard of genetic variations, and Japan’s National Liaison Council for Clinical Sections of Medical Genetics publishes periodic reports on the condition of genetic testing in Japan. In addition a qualified ‘genetic experts’, who are authorized by the Japanese Society for Gene Diagnosis and Therapy to interpret the results of genetic testing, have been introduced in order to support medical staff. In the present review, recent progress and issues related to genetic testing in Japan, particularly quality assurance and qualification standards for personnel, are summarized and discussed.
