Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

Looking at the history of cytogenetics, molecular genetics and dysmorphology it can be easily observed how the clinical knowledge has evolved with the advances in technical diagnostic procedures. Thanks to the discovery of the correct number of human chromosomes by Tijo and Levan, 50–60's have been called „golden years in cytogenetics”. Technological improvement, particularly the introduction of microarrays (array CGH) for analysis of chromosomes „turned” an approach in genetic diagnosis, making a natural „genotype-first” model. It allows the identification of a number of new or atypical syndromes that had not been possible to be recognized before. The same is true concerning diagnostics using whole exome sequencing (WES), which is currently a challenge in dysmorphology. Because of this, it has become necessary in clinical practice to use global databases, e.g., Human Gene Mutation Database (HGMD) and Human Phenotype Ontology (HPO), as well as work closely within a team of a clinical geneticist and a molecular biologist.