Neonates Can Be Tested Immediately and Simultaneously for 22 Genes Associated with Diabetes; “Revolution in Healthcare” Represents the “Future for Many Other Rare Diseases in All Specialties of Medicine”

Over a 10-year period, the time that babies receive genetic testing after being diagnosed with diabetes has fallen from over four years to under two months. Pinpointing the exact genetic causes of sometimes rare forms of diabetes is revolutionizing healthcare for these patients. Babies with diabetes are now being immediately genetically tested for all possible 22 genetic causes, while previously they would only get genetic testing years after diabetes was diagnosed and then the genes would be tested one at a time. Crucially, this means that the genetic diagnosis is made early, giving the doctor information on how best to treat the patient and inform them of the medical problems the patients are likely to develop in the future. This is a paradigm shift in how genetic testing fits in with the patients' clinical symptoms. In the past, symptoms were used to select which gene would be tested. Now, the early comprehensive gene testing means that the genetic result predicts clinical features that have not yet developed. This new paradigm means doctors can anticipate the likely problems for their patients and put the appropriate care in place to reduce their impact. The Wellcome Trust- and Diabetes UK-funded study was published online on July 29, 2015 in an open-access article in The Lancet by a team led by the University of Exeter Medical School. The article reports the results of genetic testing for the 22 known genetic causes of neonatal diabetes in 1,020 patients over the past ten years. The article is titled “The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.” During this 10-year period, the time for genetic testing after diabetes has fallen from over four years to under two months.