Metabolomics in Precision Medicine


The goal of precision medicine is to design disease prevention and clinical care strategies taking into account individual variability in environment, lifestyle, genetics, and molecular phenotype. The application of clinical genomics in cancer to inform selection of therapies and predict outcomes has been the vanguard of the field. Using a microscope as an analogy, genomic tools constitute a powerfully informative objective lens through which to examine individual variability, but it does not provide a view to other biomolecules, such as metabolites, which also define molecular phenotypes. Ideally, a molecular microscope for precision medicine would be equipped with additional objectives to examine biochemistry more broadly. Indeed, measurable changes in metabolite levels occur in response to both complex disease and monogenic disorders, and in contrast to the genome, these changes can exhibit tissue specificity and temporal dynamics. Metabolomics is an emerging field and is broadly defined as the comprehensive measurement of all metabolites and low-molecular-weight molecules in a biological specimen. Because metabolomics affords profiling of much larger numbers of metabolites than are presently covered in standard clinical laboratory techniques, and hence comprehensive coverage of biological processes and metabolic pathways, it holds promise to serve as an essential objective lens in the molecular microscope for precision medicine.


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