At the 70th American Association for Clinical Chemistry (AACC) Annual Scientific Meeting & Clinical Lab Expo held in August in Chicago, Richard Oram, MD, of the University of Exeter Medical School in the United Kingdom and Mark Latten of Randox Laboratories highlighted their findings. The research team reported that the newly developed test, called the Type 1 Diabetes GRS array, is a screening tool used to detect inherited mutations linked to the development of type 1 diabetes mellitus (T1DM).

Despite the fact that T1DM is an autoimmune disease and type 2 diabetes mellitus (T2DM) is a metabolic disorder, the symptoms of both diagnoses are similar. Further complicating the clinical picture is the fact that T1DM is not limited to childhood onset and can develop during adulthood, often with a slower and more subtle start. All of these confounding factors can lead to misdiagnosis and a delay in receiving appropriate treatment.
In the initial study, researchers evaluated over 200 DNA samples using the GRS array, which was able to successfully detect the same combinations of the 10 mutations in the samples compared with the established method. The 10 potential heritable mutations that can be measured are evaluated and combined into an overall genetic “risk score.” The research team reports that this tool can be used to avoid misdiagnosis, adding that it is a “rapid and reliable genotyping test” for detecting genes associated with T1DM.

According to Dr. Oram, “No one has, to date, used the known strong genetic risk of type 1 diabetes to distinguish type 1 from type 2. Our assay could be used alone, or in combination with clinical features and autoantibody testing to improve classification of diabetes at diagnosis, and therefore make sure people get on the right treatment.”

 « Click here to return to Diabetes Update.