The advent of metabolic precision medicine

Kirk Pappan and Jon Kitley share perspectives on using metabolic biomarkers to advance precision medicine

To date, most research around precision medicine has focused on what can be achieved through genetics and genomics. That makes logical sense as a starting point, as genes are the foundations of biological systems. However, when it comes to disease mechanisms, genes are only part of the story.

The complex relationships between individual genes, molecular pathways and disease phenotypes make it challenging to understand diseases, their causes, and potential treatments from genetics alone. With the maturation of other ‘omics’ fields, a continued focus solely on genetics may be leading us to an incomplete view of what can be achieved through a tailored approach to healthcare. Environment and experience, reflected in the human metabolome, offer more direct indicators of a patient’s current health at any given time.

The metabolome – the full complement of all biochemically relevant small molecules in the body – provides a comprehensive and current snapshot of changes within the body. As a close reflection of phenotype, the metabolome is much more directly and diversely affected by disease and offers a more applicable way to assess the presence, development and treatment of a wide range of illness. As such, metabolomics could realise the true potential of precision medicine by analysing the combined downstream impact of genetics, environment and disease.

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