Sekwencjonowanie genomu/eksomu człowieka - aspekt bioetyczny

In recent years we have observed a technological revolution in genetics. For years molecular diagnostics in genetic disorders was limited to a single gene or to a group of genes. The technological breakdown in molecular genetics relies on the change of perspective from analysis of a single gene to the whole genome sequencing (WGS) or whole exome sequencing (WES). The exome is defined as a coding part of the genome consisting of the coding parts (exons) of all genes. Thus, at present geneticists have access to the whole genome instead of separate/selected genes. Clinical genetics in the era of genomic sequencing has to cope with new challenges concerning confidentiality of genetic data, genetic discrimination, genetic and clinical determinism or incidential findings detected in genome analysis. This short review attempts to demonstrate the ethical challenges faced in the era of genome sequencing.