The burgeoning science of metabolomics

Metabolomics is promising, but will require significant work to standardise data models, study designs and protocols, as well as to integrate the inherently large amounts of data. BCC Research reveals in its new report that perhaps the biggest challenge remains the sheer complexity and diversity of the domain, making it virtually impossible to simultaneously determine the complete metabolome.

Metabolomics is the systematic study of metabolites present in a cell or tissue under a particular set of conditions generating a specific biochemical profile. The metabolome represents the collection of all metabolites in a biological cell, tissue, organ or organism. Metabolomics is a fairly new field relative to genomics and proteomics, which are more mature, but it promises much needed breakthroughs by virtue of being more descriptive of the actual phenotype or working conditions of the human body.

The global metabolomic market should total US$6.8bn and $12.5bn in 2015 and 2020, respectively, reflecting a compound annual growth rate (CAGR) of 13%.

The main clinical application of metabolomics is in developing biomarkers for the diagnosis of disease and monitoring therapies. The largest market segment, clinical biomarker metabolomic applications, is projected to total $4.1bn and nearly $7.9bn in 2015 and 2020, respectively, with a 5-year CAGR of 13.8%. These applications consist of metabolomics used to develop new biomarkers in the medical areas of inborn errors of metabolism (IEM), cancer, pharmacogenomics, and cardiovascular and metabolic, which include the detection of liver disease and prediabetes. Many of these are commercialised as laboratory developed tests (LDTs).

Metabolomics is considered to be a rapidly developing field with a potentially wide application base. Originally viewed as a sub-domain of functional genomics, its importance has grown well beyond that. Metabolomics is currently used to compare mutants, assess responses to environmental stress, study the global effects of genetic manipulation, compare different growth stages, toxicology, drug discovery, nutrition, cancer, diabetes and natural product discovery.

It also serves as an invaluable tool to search for novel compounds with specific activity. This application can be essential in drug discovery and platform development. Moreover, metabolite profiling can also be applied as a tool in systems biology, in which metabolite snapshots enable study of cellular dynamics through mathematical models.

‘In the near-term, analysis will rely on comparisons of patterns, or signatures, between unknown compounds and reference compounds. The establishment of reference systems is essential, as are the definition of negative and positive test controls and the definitive quality criteria designed to minimize artefacts,’ says BCC Research analyst Robert G. Hunter, adding: ‘Metabolomics research has additional challenges such as sample preparation, which is the most time-consuming and important step. The half-life for an intracellular metabolite is approximately one second or less.’