Clinical biochemistry and laboratory medicine in the post-genome era

The last decades of the 20th century were a period of outstanding scientific achievements. The most significant discovery was the decoding of the human genome (Venter, J. et al., 2001; Dennis, C. et al., 2001; Baltimore, D., 2001). In this article the present view of the post genomic era is presented. The new analytical methods, such as micro arrays, bio chips, and nano technology, the discovery of SNPs, and the analysis of the proteome will lead to a greater understanding of the pathogenesis of inherited and acquired diseases. Their use in clinical chemistry and laboratory medicine, and the future of technological innovations are discussed. In the post genomic era the greatest interest will be devoted to the application of these scientific achievements in the diagnosis, prevention and therapy of human diseases. The advances in human genetics that have occurred during the past 20 years have revolutionized our knowledge of the role played by inheritance in health and disease. It is clear that our DNA determines not only single gene disorders but also interacts with environments to predispose individuals to cancer, allergy, hypertension, heart disease, diabetes, psychiatric disorders and even to some infectious diseases. The study of longevity and the demonstration of genes favouring a long lifespan suggest that such protective systems exist. The study of genetic polymorphisms has made clear that some alleles have beneficial effects. These discoveries will be of great help in our understanding of the interactions between genetics and environment. Gene array analysis has become the method of choice for identifying genes expressed at different levels in different samples. The mRNA expression profiles of normal and tumor tissues, treated and untreated cell cultures, and developmental stages of an organism can be compared quickly and easily with an appropriate array analysis system. A major task after a genome has been fully sequenced is to understand the functions, modification, and regulation of every encoded protein. Much information about protein function can be derived from the analysis of biochemical activities (Martzen, M. R. et al., 1999). In principle, the biochemical activities of proteins can be probed by producing proteins in a high-throughput fashion and analysing the functions of hundreds or thousands of protein samples in parallel using protein micro arrays (MacBeath,G. and Schreiber, S. L., 2000). Major problems in screening an entire proteome array have been the ability to generate the necessary expression clones and also the expression and purification of proteins in a high-throughput fashion. This endeavour has been advanced by creating micro arrays on glass slides that display purified proteins. In the last part of this article I have presented our interest in the study of the molecular basis of the most common monogenic diseases. (Author)