[Personalized medicine based on genomic information: the present status in terms of clinical application]

Molecular-genetic tests clinically available in Japan are mainly for the analysis of microbial nucleic acids. Genetic tests targeting the human genome have been limited to research purposes, although a few tests are available for clinical use. In April 2006, reimbursement was readjusted and four molecular-genetic tests were added to those with national insurance coverage: Major bcr-abl mRNA nucleic acid amplification assay, genetic analysis of progressive muscular dystrophy, genetic analysis of rearranged immunoglobulin gene, and genetic analysis of malignant tumor. Under Japan's healthcare system, only laboratory tests catalogued in the reimbursement can be clinically applied. Otherwise, the costs won't be reimbursed. Since most molecular-genetic tests are not given insurance reimbursement points, the costs are charged to the patients themselves. This is one of the reasons why molecular-genetic tests are not used in clinics. Other reasons are that such tests are based on the home-brew method, and that standardized assay methods are not available. I reviewed and discussed the following issues: the present status of medicine based on genomic information in Japan, and the significance of the standardization of molecular-genetic testing in clinical application. I also introduced the JMCoE (Japan Molecular Center of Excellence) program for the promotion of molecular-genetic testing in clinics.