Role of Metabolomics in Personalized Medicine

Abstract

The human metabolome is best understood by analogy to the human genome, i.e., where the human genome is the set of all genes in a human being, the human metabolome is the set of all metabolites in a human being. In a systems biology approach, metabolomics provides a functional readout of changes determined by the genetic blueprint, regulation, protein abundance and modification, and environmental influence. Metabolomics is the study of the small molecules, or metabolites, contained in a human cell, tissue, or organ (including fluids) and involved in primary and intermediary metabolism. By definition, the metabolome should exclude enzymes, genetic material and structural molecules such as glycosaminoglycans, and other polymeric units that are degraded to small molecules but do not otherwise participate in metabolic reactions. A related term, metabonomics is the use of nuclear magnetic resonance (NMR) technology to study metabolomics. According to the Metabolomics Society, “Metabolomics is the study of metabolic changes. It encompasses metabolomics, metabolite target analysis, metabolite profiling, metabolic fingerprinting, metabolic profiling, and metabonomics”. Examination of a sample using multiple mass spectrometry-based technologies, nuclear magnetic resonance, integration of the data, and analysis by proprietary software and algorithms enables faster and more accurate understanding of a disease than previously possible. In spite of the broader scope of metabolomics to include metabonomics, the two terms still continue to be used interchangeably.