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
[Rinsho Byori 50 : 156〜160, 2002]
*Department of Clinical Genetics and Department of Laboratory Medicine, Kyoto University School of Medicine, Kyoto 606-8507
【Key Words】Human Genome Project(ヒトゲノムプロジェクト)，department of clinical genetics(遺伝子診療部)，genetic counseling(遺伝カウンセリング)，single nucleotide polymorphism(一塩基多型)，genetic disease(遺伝性疾患)
*京都大学医学部附属病院遺伝子診療部・検査部(〒606-8507京都市左京区聖護院川原町54)
E-mail :kosugi@kuhp.kyoto-u.ac.jp