[Rinsho Byori 50 : 156-160, 2002]


Human Gene Tests as Laboratory Medicine in the Post-Genome Era

Shinji KOSUGI, MD*

Massive and systematic information on human genes and genome is accumulating with progress in the Human Genome Project. Information on the genome has a characteristic digital signal that is appropriate for high-throughput handling by computers. Therefore, the field of gene tests has a high affinity to the field of laboratory medicine. In addition, it is a important survival strategy for departments of laboratory medicine to remain at the cutting edge. We must establish an infrastructure for utilizing genome information in clinical medicine and must anticipate numerous issues.
The following issues need to be addressed.
1.Online database of human gene tests(http://www.kuhp.kyoto-u.ac.jp/idennet/DB/index2.html)
2.Anonymous handling of patients' samples
3.Establishment of independent Department of Clinical Genetics
4.Education of clinical geneticists
5.Quality control of human gene tests(especially germline mutation tests)
6.Education of technicians handling human gene tests

*Department of Clinical Genetics and Department of Laboratory Medicine, Kyoto University School of Medicine, Kyoto 606-8507

【Key Words】Human Genome Project, department of clinical genetics, genetic counseling, single nucleotide polymorphism, genetic disease