The Clinical Application of Genetic Testing in Type 2 Diabetes

REVIEW ARTICLE

Jason Vassy, James B Meigs, and Richard W Grant

Affiliation: Division of General Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA

ABSTRACT

Type 2 diabetes mellitus (T2DM) is an increasingly prevalent disease that results from the complex interaction of genetic and environmental factors. Rapid advances in genetic epidemiology have uncovered several dozen genetic loci associated with T2DM. Individual variations at these loci have been associated with risk for developing T2DM, response to drug therapy, and risk for micro- and macrovascular complications. This surge in scientific discovery has helped to begin unraveling the underlying pathophysiology of diabetes. Insights from genetic epidemiology also have the potential to improve clinical care. In this review we discuss recent advances in the field and provide a conceptual framework for how genetic testing could be applied to the clinical care of patients with T2DM. This framework describes four ways that genetic information could potentially guide the management of T2DM: (1) risk assessment for incident diabetes, (2) tailored therapy, (3) prediction of diabetes-related complications, and (4) motivation for behavior change.

Keywords: type 2 diabetes, genetic testing, genetic prediction, pharmacogenetics

Correspondence: Richard W Grant, MD MPH 50-9 Staniford St, Boston, MA 02114, Tel: +617-724-3502; Fax: +617-724-3544; e-mail: Rgrant@partners.org