Metabolomics is a term used to describe the study of the low molecular weight (e.g., < 2,000 amu) compounds in cells, tissues, and biological fluids. Metabolomics holds promise for developing markers for early detection and diagnosis of disease, disease staging, therapeutic monitoring, determining susceptibility, and providing mechanistic insights for linking exposure to disease or extrapolating across species.

It is common belief that the metabolome consists of several thousand metabolites that can be related to specific metabolic pathways as well as additional metabolites derived from foods or xenobiotics that must be considered. Metabolomics investigations have generally employed NMR and MS methods for the capture of thousands of signals that, in general, translate to the assignment of less than several hundred metabolites. Thus, any one (or any combination) of these technologies that are measuring hundreds of metabolites that map to biochemical pathways are assigning a fraction of the metabolome. Nonetheless, these technologies have been proven successful in providing patterns of metabolites in tissues and biological fluids to differentiate groups based on how the biochemical profile is influenced by exposure (e.g., chemical, drug, or diet), gender, age, genetic background, or clinically defined illness (e.g., staging liver disease, predicting heart disease). Through assignment of signals and linking metabolites to known biochemical pathways, investigators have developed mechanistic insights that show promise for the utilization of this technology to stage disease, monitor therapeutic treatments, and develop or improve intervention strategies.