Metabolomics is the study of the products of metabolism (metabolites), which can collectively be referred to as the metabolome. The metabolome is a highly personalized readout of metabolism, reflective of both nature (the proteins encoded and subsequently degraded within an individual) and nurture (nutrients, lifestyle choices, the gut micro-biome, and exposures to drugs and environmental toxins).
Metabolomics – Hot Or Not?
These metabolites can typically be detected in bodily fluids and tissue samples. For example, certain metabolic markers detected in the urine may be indicative of kidney disease, and metabolic markers suggestive of cardiovascular disease may be detected in the serum and/or plasma.
The unique aspect of metabolomics among the ‘omic’ technologies (including genomics, epigenomics, transcriptomics and proteomics) is that measuring metabolites provides a retrospective and wide-ranging account of the biological processes that have occurred within an individual, which may be relevant to health and disease states.
Whilst metabolomics has exciting potential to provide insight into the pathophysiology of many diseases, there are challenges to address before the clinical applications of metabolomics broaden. These include:
- Interpreting Mass Spectrometry Data
Realizing Clinical Metabolomics – What are the challenges?
In the pre-clinical phase of biomarker discovery, several technical challenges need to be overcome. There can be a high degree of correlation between metabolites in spectral data generated using mass spectrometry, making it difficult to discriminate between metabolites with similar chemical characteristics or significant correlations based on shared metabolic pathways.
- Identifying Biomarkers For Clinical Use
A major limitation of metabolomics as an emerging healthcare technology is the slow progress in identifying which metabolites may serve as potentially useful biomarkers. This is complicated by the dynamic nature of metabolism, which can be substantially influenced by genetic differences and environmental exposures.
- Establishing Standards
Only once biologically significant metabolites have been identified and can be reproducibly quantified can reference ranges be established, which indicate the minimum and maximum values for a given test that would be expected in healthy individuals. What is the outlook for metabolomics in personalised healthcare?
Metabolomics has exciting potential to improve our understanding of disease mechanisms and to yield clinically useful biomarkers. In view of the vast numbers of metabolites that can be simultaneously measured in a single biological sample, it is tempting to speculate that metabolomics may form the basis of a broad-spectrum screening tool in the future. However, there is some way to go before whole metabolome analysis is routinely performed in clinical setting.
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