Thanks to advances in genomic testing, infants suffering from diabetes are beginning to be genetically tested for all 22 genetic causes of the disease. The expansion of genomic testing for diabetic infants is a major development in the diagnosis and treatment of the disease, since in the past babies could only be tested after years of living with diabetes and the genes could only be tested one at a time.
Now, the earliest that genetic testing for infants with diabetes can be conducted has dropped from 4 years to less than 2 months. Infants can now be tested early for all the 22 possible genetic causes at the same time. This new diagnostic approach an accurate management of the difficulties that diabetic infants will face in the future.
The most recent study reviewing the use of genomic testing in diabetic infants was funded by The Wellcome Trust and Diabetes UK and was published in The Lancet. Researchers at the University of Exeter Medical School conducted the study and reported the results of 1,020 patients assessed over the last 10 years.
The study highlights that the rapid referral time for detecting diabetic mutations in infants aides in detecting the 40% of diabetes patients with a mutation in the pancreas potassium channel genes early, which can improve their glucose control by swapping their insulin injections for sulphonylurea tablets. The study also highlights that genetic testing over the past decade has progressed so that instead of testing one gene at a time, it is now possible to test all the genes in a single test
This new approach is revolutionizing the comprehensive genetic testing possibilities, and it might be extended to other fields.
Andrew Hattersley, Professor of the University of Exeter Medical School, noted: “In the last decade, we have shown that making a precise diagnosis from genetic testing results in improved treatment and hence we now get samples soon after diabetes is diagnosed from patients throughout the world. Now the ability to test all genes in a single test means we are able to accurately inform patients and their doctors — not just about the best treatment but also about likely medical problems before they have started. This means doctors can start to develop treatment to either prevent or improve these problems. In the past, genetics has been used to confirm a diagnosis and that often took years. Now genetics is being used to give an early, precise diagnosis — this changes how healthcare is practiced, and will be seen in many areas in medicine in the future.”
Professor Sian Ellard, who leads the genetic testing at the University of Exeter Medical School, said: “Our results show the power of genomic medicine to change how clinical care is given. We believe that this is the future for many other rare diseases in all specialities of medicine.”
Alasdair Rankin, who is the Diabetes UK Director of Research, explained that it is crucial that children suffering with neonatal diabetes are immediately tested so they receive the best treatment.
