ABSTRACT

The best treatment of each individual cancer patient starts with the best molecular pathological diagnosis. In routine pathology diagnostics the available tissue is most frequently Formalin Fixed Paraffin Embedded, resulting in suboptimal fragmented DNA. Within pathology diagnostics, two different trends occur simultaneously where, on one hand, larger gene panels are used to allow the analysis of different tumor types using one standardized gene panel. Although in medical genetics practice whole exome-sequencing (WES) is sometimes already replaced by WGS, pathology mainly uses targeted sequencing. In future cancer treatment we will need an extensive genetic makeup of the tumor to optimal predict, treat and monitor cancer. With decreasing sequencing costs and increased computational power, it is likely that WES and WGS will become practice in pathology. DNA/RNA sequencing will not only stay a leading assay for predicting response to targeted therapy.