Emerging Applications of Metabolomic and Genomic Profiling in Diabetic Clinical Medicine

Aine M. McKillop, PHD; Peter R. Flatt, PHD


Diabetes Care. 2011;34(12):2624-2630. 

In This Article

Abstract and Introduction


Clinical and epidemiological metabolomics provides a unique opportunity to look at genotype-phenotype relationships as well as the body\x{2019}s responses to environmental and lifestyle factors. Fundamentally, it provides information on the universal outcome of influencing factors on disease states and has great potential in the early diagnosis, therapy monitoring, and understanding of the pathogenesis of disease. Diseases, such as diabetes, with a complex set of interactions between genetic and environmental factors, produce changes in the body\x{2019}s biochemical profile, thereby providing potential markers for diagnosis and initiation of therapies. There is clearly a need to discover new ways to aid diagnosis and assessment of glycemic status to help reduce diabetes complications and improve the quality of life. Many factors, including peptides, proteins, metabolites, nucleic acids, and polymorphisms, have been proposed as putative biomarkers for diabetes. Metabolomics is an approach used to identify and assess metabolic characteristics, changes, and phenotypes in response to influencing factors, such as environment, diet, lifestyle, and pathophysiological states. The specificity and sensitivity using metabolomics to identify biomarkers of disease have become increasingly feasible because of advances in analytical and information technologies. Likewise, the emergence of high-throughput genotyping technologies and genome-wide association studies has prompted the search for genetic markers of diabetes predisposition or susceptibility. In this review, we consider the application of key metabolomic and genomic methodologies in diabetes and summarize the established, new, and emerging metabolomic and genomic biomarkers for the disease. We conclude by summarizing future insights into the search for improved biomarkers for diabetes research and human diagnostics.


Diabetes is a rapidly increasing metabolic disorder precipitated by complex and poorly understood interactions between multiple environmental and genetic factors. The consequences of diabetes are far reaching, and disturbances in both the secretion and action of insulin impact on the global regulation of metabolism, affecting the composition of blood and other body fluids. Understanding of this process and identification of potential disease biomarkers have been greatly facilitated in recent years by the upsurge in new technologies for comprehensive metabolic profiling, which are often collectively termed metabolomics.


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