Human Genome Project – great expectations and dangers

The present work summarizes origins and a brief history of human genome project (HGP), its main goals and achievements. Improvements in nucleic acid technologies and methodological breakthroughs made possible whole human genome sequencing with two distinct strategies: by mapped clones and by whole genome shotgun. This review discuss successes of human genome project which raised great expectations, particularly in the area of medicine and human health, but also potential dangers. As a result of yearly studies in February 15 and 16, 2001 scientists published in Nature and Science a preliminary draft of human genome sequence consisting 3 billion nucleotides (90% of whole sequence). A complete sequence of human genome has been published in 2004 and the study revealed that the current genome sequence, that covers 99% of the genome, contains 2.85 billion nucleotides (interrupted by only 341 gaps). Notably, the human genome seems to encode only 20,000-25,000 protein-coding genes. For now sequencing of 13 individual genomes have been completed. Human genome project facilitated a rapid development of human genetics, genomics and molecular medicine making possible a personalized medicine. As a result of human genome project scientists improved diagnosis of disease, earlier detection of genetic predispositions to disease, its results are employed to rational drug design, gene therapy and design of personalized, custom drugs. A rapid development of less expensive and affordable sequencing technologies, and a possibility of knowing complete sequence of individual genome, raised potential dangers and ethic dilemma. It includes a danger of manipulation with human genetic information in human embryos, as well as misuse of private genetic information by insurance companies and employers to discriminate on the basis of information derived from genetic tests. Altogether, sequencing of human genome fulfilled, not all, but many hopes and expectations. Potential dangers can be controlled and subject of proper law regulations.