K.K. Jain, Textbook of Personalized Medicine, DOI 10.1007/978-1-4939-2553-7_7, 169
© Springer Science+Business Media New York 2015
Chapter 7
Role of Metabolomics
in Personalized Medicine
Metabolomics and Metabonomics
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, the human metabolome
is the set of all metabolites in a human. In a systems biology approach, metabolo-
mics provides a functional readout of changes determined by genetic blueprint,
regulation, protein abundance and modifi cation, and environmental infl uence.
Metabolomics is the study of the small molecules, or metabolites, contained in a
human cell, tissue or organ (including fl uids) and involved in primary and interme-
diary metabolism. By defi nition, 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 meta-
bolic reactions.
A related term, metabonomics is the use of NMR technology to study metabolo-
mics. According to the Metabolomics Society, “Metabolomics is the study of meta-
bolic changes. It encompasses metabolomics, metabolite target analysis, metabolite
profi ling, metabolic fi ngerprinting, metabolic profi ling, and metabonomics”.
Examination of a sample using multiple mass spectrometry-based technologies,
nuclear magnetic resonance, integration the data and analysis by proprietary soft-
ware 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.
The Human Metabolome Database (HMDB) of Canada ( http://www.hmdb.ca/ )
is a freely accessible electronic database containing detailed information about
small molecule metabolites found in the human body and contains or links three
kinds of data: (1) chemical data; (2) clinical data; and (3) molecular biology/bio-
chemistry data (Wishart et al. 2013 ). It is meant to be used for applications in
metabolomics, clinical chemistry, biomarker discovery and general education. The
database contains 41,818 metabolite entries including both water-soluble and lipid
soluble metabolites as well as metabolites that would be regarded as either abundant