[The recent progress and future prospects of diagnostic DNA testing--experience in DNA analysis of serum enzymes]

Rapid progress in the molecular technology has stimulated attempts to establish DNA diagnosis of human diseases. However, advances in technology have led to improvements at the research level but not in routine laboratory work because only few laboratory tests are covered by medical insurance; the methodologies cannot be easily applied to routine work; and the equipment and reagents are relatively expensive. This paper provides an overview of recent progress in DNA diagnosis and my experience in the DNA diagnostic field. I started working in the DNA diagnostic field in January 1988 with research on mutation analysis of lactate dehydrogenase subunit deficiency. I worked in Dr. Steven Li's laboratory at the National Institutes of Health in North Carolina and discussed with him about screening the patient's genomic library instead of using PCR because PCR was not adequate for mutation analysis. We successfully completed the mutation analysis and I returned to Japan. Thereafter, PCR has been increasingly improved and is now applicable to mutation analysis. Currently, amplification is essential for many DNA diagnostic technologies. The Human Genome Project has progressed and will be finished around 2002. In this process, DNA diagnosis will play an important role in the clinical laboratory. Common diseases, such as atherosclerosis, diabetes mellitus, hypertension and so on, have also been analyzed and the responsible genes will have been identified. Each laboratory should have a specialty and characteristic, and should be ready to help and assist each other via a network. Network communication is clearly needed by laboratories in the future.