Clinical metabolomics can play a pivotal role in advancing the practice of precision medicine because there is almost always a physiological manifestation of disease that is reflected in the patient’s metabolites. While genomic sequencing may reveal disease risk, clinical metabolomics provides an in vivo snapshot of the patient’s health in the current state, which can reveal actionable information to advance clinical decision-making, including tracking an individual patient’s health status overtime to assess treatment response.

Metabolon’s proprietary clinical metabolomics approach, as described in “Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism,” in The Journal of Applied Laboratory Medicine is a proven method for the screening of metabolic diseases through the analysis of a multi-pronged mass spectrometry platform.

This application of clinical metabolomics has proven exceptionally significant for Inborn Errors of Metabolism (IEM) and rare disease detection. Today there are more than 7,000 rare and undiagnosed diseases. Often the clinical manifestations of those diseases are vague, or the metabolic pathway that is disturbed is not immediately apparent. Applying global, or untargeted, analytical approaches, whereprior knowledge of the affected metabolic pathway is not required, provides advantages over targeted analytical approaches by casting a wide net to measure as many biomarkers as possible, invaluable in a clinical setting.

We believe clinical metabolomics has the potential to transform precision medicine and dramatically advance diagnosis and treatment of patients suffering from rare and undiagnosed diseases.