An update on the diagnosis and management of monogenic diabetes

Abstract

Initiated in 2000, the NHS-funded genetic testing service for monogenic diabetes at the Exeter Genomics Laboratory, Royal Devon & Exeter Hospital, is the sole national provider for this service in England. The laboratory has undertaken testing for over 19,000 families and has diagnosed monogenic diabetes in over 9500 patients from the UK and across the world. Dr Kevin Colclough and colleagues here provide an insight into how genetic diagnostic testing leads to improved clinical care, how advances in testing technology are causing a paradigm shift in diagnosis, and how changes to test provision and funding are leading to the mainstreaming of genetic diagnosis in routine diabetes clinics.