ABSTRACT
The development of personalized medicine is highly dependent on an accurate molecular characterization of the different pathologies. Many diseases have a homogeneous clinical presentation, whereas from a molecular standpoint, they are highly heterogeneous.
The gap between genomic alterations and transcriptional profiling has been increasingly recognized and metabolic profiling has been shown to play an important role in filling this gap. Although genes and proteins are subject to epigenetic and posttranslational modulations, metabolites as intermediate products provide an integrated and additional insight into biological systems. Signatures generated through metabolic profiling represent a powerful tool in precision medicine to help in risk stratification of disease and in customized drug therapy. Metabolic profiling can therefore contribute to the molecular characterization of various disease phenotypes and to the identification of distinguishable features that can improve the prediction for therapy response. Metabolomics holds the promise of enabling the detection of states of disease, monitoring disease progression and orienting the choice of therapy by identifying individual responders and predicting toxicity.
