Martin P. Hornshaw
Metabolon Inc.,
Title: Metabolomic for Precision Medicine: From Population Health to Scientific Wellness
Biography
Biography: Martin P. Hornshaw
Abstract
We have heard much about genomic medicine but genotype does not equate to phenotype. A potential future of effective precision medicine requires not only estimates of lifetime risk of disease but also accurate measurement of phenotype: molecular phenotype. This will enable assessment of disease risk in the near term, disease progress, effect of intervention on disease progression and so on. Metabolomics enables measurement of molecular phenotype in the form of the assessment of an individual’s overall metabolism (approx 1000 metabolites in plasma or serum) and changes to metabolism, not just individual metabolite measurements, in samples such as plasma, urine and tissue. When utilized in a ‘Systems Medicine’ approach metabolomics becomes a powerful indicator of health and disease. A pragmatic systems medicine approach would be to merge genomics data with large scale phenotypic measurements such as metabolomics, proteomics and imaging. A global metabolomics platform and its use in recent years in population health studies and applying knowledge of metabolism to precision medicine research will be discussed. These areas include diagnosis of inherited metabolic disease, undiagnosed illness, assessment of penetrance, drug toxicity and ‘scientific wellness’.