Clinical utility of genetic risk testing in primary care: the example of Type 2 diabetes

Per Med. 2013 Aug;10(6):549-563. doi: 10.2217/pme.13.47.

Abstract

Genetic advances in Type 2 diabetes (T2D) have led to the discovery and validation of multiple markers for this complex disease. Despite low predictive value of current T2D markers beyond clinical risk factors and family history, researchers are exploring the clinical utility and outcomes of implementation in practice, and testing is available via direct-to-consumer markets. Clinical utility research demonstrates high hypothetical utility to patients for motivating behavior change and potentially reducing risk. However, trials to date have not demonstrated improvements in behavioral and clinical outcomes over and above counseling based on traditional risk factors. Ongoing research in T2D genetics and associated risk-prediction models is necessary to refine genetic risk pathways, algorithms for risk prediction and use of this information in clinical care. Further research is also needed to explore care models and support interventions that address the needs of personalized risk information and sustainable preventive behaviors to reduce the rising prevalence of T2D.

Keywords: Type 2 diabetes; clinical utility; genetic testing; personal utility.