The role of metabolomics in precision medicine

ABSTRACT

Introduction: Small molecules play vital roles in all biological systems, including cellular processes, intra-organ and inter-organ communications, and individual–environmental interactions. Their impacts range from the molecular to the population level. Therefore, their comprehensive characterization represents the potential to understand biology and diseases. Metabolomics is an omics technology that allows simultaneous, global, and comprehensive characterization of small molecules in a biological system.

Areas covered: We present the different analytical tools and strategies used in metabolomics. Furthermore, we discuss how metabolomics is being used in disease biomarker discovery, diagnosis, and treatment customization in the precision medicine era on the individual level and the population level. Finally, challenges facing clinical translation of metabolomics are discussed. Data for this review were identified using searches of PubMed and references from relevant articles using the search terms ‘metabolomics,’ ‘metabonomics,’ ‘metabolic profiling,’ ‘metabolic phenotyping,’ and ‘precision medicine.’

Expert commentary: Metabolomics, with its functional readout capabilities, is reshaping medical diagnostics, biomarker discovery, and drug discovery. However, a major limitation of the current metabolomics capabilities is the need to compromise on either the scope of the experiment or the completeness of the measurements. Furthermore, metabolite identification, standardization, and bioinformatics pipeline improvements are needed for full clinical implementation.

KEYWORDS:

• Omics
• metabolomics
• mass spectrometry
• nuclear magnetic resonance
• cancer
• pathology
• metabolite imaging
• machine learning
• chemometrics
• precision medicine

Declaration of interest

The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Additional information

Funding

No funding to declare.