Swift genetic testing for diabetic babies means improved treatment

by Barbara Hewitt on August 19, 2015

Genetic testing for babies with diabetes results in improved treatment as it helps doctors anticipate future health problems, scientists have announced.

Indeed, pinpointing the exact genetic causes of sometimes rare forms of diabetes can revolutionise the healthcare of these patients, according to the team from the University of Exeter Medical School in the UK.

Baby SuppliesBabies diagnosed with diabetes can now be genetically tested at under two months of age 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 also marks a 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, but now the early comprehensive gene testing means that the genetic result predicts clinical features that have not yet developed.

The study, published in The Lancet by the university team, reveals the results of genetic testing for the 22 known genetic causes of neonatal diabetes in 1,020 patients over the past 10 years. During this 10 year period, the time for genetic testing after diabetes has fallen from over four years to under two months.

The rapid referral time reflects the importance of finding the 40% of patients with a mutation in the pancreas potassium channel genes that can improve their glucose control by swapping their insulin injections for sulphonylurea tablets. The other change in this decade is that genetic testing has been revolutionised so that instead of testing one gene at a time now it is possible to test all the genes in a single test.

“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,’” said Professor Andrew Hattersley, of the University of Exeter Medical School. “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.”

One family, the Mulligans, from Belfast in Northern Ireland, have spoken about their experience. They recently received a genetic result on then four month old baby Matthew within just 10 days of taking him into hospital with rash and being found to have high levels of blood sugar.

His consultant sent a sample to the team at the University of Exeter Medical School and their swift genetic analysis discovered that Matthew’s rare form of neonatal diabetes was caused by a mutation in a single gene, the insulin gene, meaning that he was not producing insulin and needed insulin therapy.

But they also found that he will not have problems with his brain or gut unlike many other genetic causes of neonatal diabetes. The team recommended an insulin pump, which gives insulin through a cannula under the skin, so sparing the family the trauma of injecting their baby with insulin doses at mealtimes.

“At first it was horrendous. As a parent, your biggest fear is that your baby is not healthy. With Matthew everything seemed fine. He was thriving, putting on weight and developing well, and the rash was the only sign that there was anything wrong. Taking him to hospital seemed like a precaution,” said his dad. “Finding out he had a permanent form of diabetes felt like the worst thing in the world at the time. He was just so small and having constant insulin injections. His blood sugar levels were really unstable and he was like a pin cushion from all the blood tests. Although we were shocked and devastated that the genetic tests revealed the condition was permanent, it was a relief that the team recommended the insulin pump.

“Having a swift diagnosis from the team at Exeter that was so precise was also extremely helpful. Knowing that it’s just one gene that causes Matthew’s condition is reassuring, as we know it’s not got wider implications. We’re also hopeful that one day this research may mean treatments can be more targeted.”

The opinions expressed in this article do not necessarily reflect the views of the DiabetesForum.com Community and should not be interpreted as medical advice. Please see your doctor before making any changes to your diabetes management plan.

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