Search

Metabolites are the downstream product of genome, transcriptome and proteome expression, and their dynamic levels are affected by environmental factors including the microbiome, the diet, underlying disease, and drug intake. Their close relationship with the phenotype has led to the development of diagnostic and therapeutic tools based on the study of metabolites, metabolomics. Current advancements of the clinical application of metabolomics will be discussed in this chapter, focusing on noncommunicable diseases. In addition, metabolomics can be utilized to unmask nutritional imbalances related to noncommunicable diseases and to proceed to their replenishment and maintenance of metabolic homeostasis. Pharmacometabolomics is a potent tool for the selection, monitoring, and optimization of treatment based on the personal metabolic profile. Overall, metabolomics provides an emerging approach for the early diagnosis and prediction of underlying noncommunicable diseases and the proper selection of existing treatment or discovery of novel therapeutic targets.

Metabolomics approaches are categorized into two analytical platforms, untargeted, which offers a comprehensive scanning of the metabolome formulating the hypothesis, while targeted metabolomics explores the generated question toward validation. The identification of the metabolic entities can be intricating, due to the physicochemical diversities of the metabolites, the interlaboratory variations, and the unknown actual metabolic spectrum. Nuclear magnetic resonance and mass spectrometry detectors, coupled with liquid chromatography or gas chromatography, include the state-of-the-art methodologies of the laboratory setting for both targeted and untargeted metabolomics studies. These analytical techniques can provide detailed characterization of hundreds to thousands of metabolites that assist research efforts for metabolomics-based biomarker discovery of clinical relevance enabling the transition to precision medicine strategies. However, the integration of metabolic biomarkers to clinical applications entails challenges in terms of validation, which is discussed hereafter, along with the future perspectives on clinical metabolomics translational potentials.