A new genetics approach is being developed to diagnose children with type 1 diabetes before they may need emergency treatment.
A team from the University of Virginia is trying to demonstrate the value of genetic screening and how it could significantly reduce the number of young people who are hospitalised with the autoimmune condition.
A significant number of children who develop type 1 diabetes require emergency care before they are diagnosed with the condition. Previous studies have shown that 30-46% of children develop diabetic ketoacidosis, a life-threatening illness, before they are diagnosed with type 1 diabetes.
No single gene is responsible for the development of type 1 diabetes, which is why, historically, genetics has always been a more complex way of determining who is at risk. However, now the research team say they believe they have enough genetic information which they can now use positively.
Stephen Rich, director of the Center for Public Health Genomics at the University of Virginia, said: “The risk of type 1 diabetes is about half genetic and half unknown. In a complex disease like type 1 diabetes, we’re probably unique in that we understand the vast majority of the genetic risk.”
The researchers are focusing on carrying out a genetic test on young people who are deemed at higher risk of type 1 diabetes. Intermittent blood tests will be taken to look for autoantibodies associated with type 1 diabetes.
So far, about 2,000 children have undergone the genetic test and 60 have been found to be at heightened risk because of the genes they are carrying.
Dr David Repaske, head of pediatric endocrinology at the university, said: “We have the potential to include this on the newborn screen that every child in the country participates in. But then there’s the ethical dilemma: How are people going to deal with this information?”
However, the screening is already helping some people. Jeri Seidman’s 12-year-old daughter Hannah was picked out as having heightened risk as part of the genetic test. She is now undergoing periodic blood tests to monitor autoantibodies in her blood.
Should she go on to develop type 1 diabetes, it is less likely she will avoid being admitted to hospital as the family will be aware of the symptoms and her healthcare team will be able to commence treatment quickly.
Dr Repaske said: “It’s a much better course of initiating therapy. They stay out of the ICU (intensive care unit). They even stay out of the hospital, in most cases.”