Strategies in Biochemical Genetics

The role of biochemical genetics has changed in the last few years thanks to the revolutionary developments in the field of genome sequencing technology. Whereas biochemical genetics laboratories played a central role in the traditional diagnostic work-up of patients suspected to suffer from a metabolic disease through the targeted analysis of metabolites in body fluids, whole exome- and/or whole genome sequencing have gained increasing importance. Nowadays, they are often even used as first-line diagnostic method. Despite the power of exome/genome sequencing, biochemical genetics is still of fundamental importance for both patients’diagnostics as well as biomarker discovery, resolution of pathophysiological mechanisms, among others. In this chapter, we will describe the changing face of biochemical genetics over the years with particular emphasis on the rapid progress in the field of different metabolomics strategies including untargeted metabolomics and molecular identification which have brought biochemical genetics back to the forefront of patients’ diagnosis and discovery again.