Whole genome sequencing - a challenge for genome diagnostics

Background. The detection of gains or losses of whole chromosomes or small chromosome fragments and pathogenic sequence variations of individual known genes responsible for diseases are prerequisites for the confirmation of genetic disorders. The laboratory confirmation of a genetic disorder has a substantial impact on the prenatal and postnatal management and secondarily on the family planning of relatives. Aim. The possibilities of genetic diagnostics have changed dramatically within the last few years. The aim of this review article is to consider the technical advances in genetic laboratory diagnostics in the context of the clinical routine. Results and discussion. Genome-wide testing for pathogenic copy numbers and quence variations at single gene resolution is possible and has now become a diagnostic reality. Challenges comprise high technical input as well as interpretation and communication of results to patients and physicians. The correct implementation of these new technologies is a valuable extension to traditional genetic diagnostics and requires good and sensible practice in dealing with data and technical options.