[The human genome and medicine]. / Lidský genom a medicína.

Recent publication of the working draft of the human genome and its first analyses revealed several surprising findings. The human genome contains only about 42,000 genes, contrary to previous estimates of about 100,000. Comparison with other genomes suggests that the complexity of an organism need not result from increasing gene number, but it can be based on regulatory mechanisms associated with alternative gene expression and on complex interactions of genes and/or their protein products. The progress in genomics and related modern disciplines is influencing substantially the biomedical research and the medicine itself, where the main focus shifts towards multifactorial diseases. The new knowledge will lead to much more effective diagnosis, exact prognosis of the disease course and of individual drug response, to the targeted therapy using new drugs and gene therapy, and mainly towards targeted prevention based on the detailed knowledge of individual disease predisposition.