Despite human genome mapping and years of research, the hunt for genetic drivers of health and disease has been challenging. It is now clear that both genetic and environmental factors, such as the microbiome, diet, lifestyle, and chemical and drug exposure, influence human health and disease. If we are to progress in the treatment and prevention of complex diseases such as diabetes, cancer, cardiovascular and neurological diseases (the principal causes of illness and death in the developed world), there must be a way to account for all of these influences.
Metabolon scientists, Kirk Beebe and Adam Kennedy, recently published Sharpening Precision Medicine by a Thorough Interrogation of Metabolic Individuality in the Computational and Structural Biotechnology Journal. The authors discuss the role of metabolomics in high-resolution phenotyping and its impact on precision medicine, a medical model that customizes health care decisions, medical practices and products to the individual.
The promise of precision medicine is that clinicians will choose diagnostic testing and treatment based on a number of biological signatures. However, to have an expansive toolbox of precise recommendations about wellness and treatment for an individual, researchers will first need to collect and analyze massive amounts of data.
Big data programs to characterize individual health, disease and response with a battery of ‘omic and clinical assessment tools are underway. These efforts entail enrolling large numbers of people and collecting many data points on each one through methods including genomics, metabolomics and microbiome profiling. From this vast number of data points, a reduced set of biomarkers will emerge into clinical practice. In fact, biomarkers are already enriching precision medicine.
Metabolomics contributes to these large cohort studies by comprehensively surveying each person’s metabolites to provide a snapshot of health status, or “phenotype”, and all of the influences upon it. Another key utility of metabolomics is that it complements data from other ‘omics technologies, particularly in connecting genetic variants to certain disease states.
Associating metabolite levels and alterations with specific genotypes or external factors such as the microbiome offers the ability to streamline diagnostics and provide actionable information to the clinician. As the field of metabolomics has matured, the foundational data it reveals will continue to refine precision medicine signatures and mechanisms to illuminate treatment strategy and monitor health changes.
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