ABSTRACT

It is commonly stated that genomics approaches and knowledge will be rapidly transferred to the clinic. While there is growing evidence that genomics research is increasing our knowledge of common diseases, in particular diabetes, the evidence that genomic information is having an immediate and major impact on clinical practice is less obvious. Molecular diagnosis is now possible for more than 80% of patients with monogenic (single gene) forms of diabetes, and this knowledge can be used to inform treatment decisions (1). Other more common forms of diabetes have more complex genetic (and environmental) contributions to risk, making prediction, prevention, and treatment less clear. This chapter will provide a summary of current knowledge of the genetic contribution to several diabetes phenotypes, the prospects for applying genetic information in the clinical setting, and identify some of the barriers to the application of this information in translational research and personalized medicine.