Diabetes gene tests a "revolution"

Genetic testing for babies with diabetes is revolutionising treatment, doctors have reported.

Babies can now be tested for 22 genetic causes within two months of being diagnosed with the disease.

It means many children can take tablets of sulphonylurea instead of insulin injections, the Exeter University Medical School researchers report. About 40% have a mutation of the pancreas potassium channel genes that makes this treatment effective.

The doctors reported the results of ten years of development of genetic testing in The Lancet yesterday.

During that time, more than 1,000 children have been involved in the programme. Ten years ago it could take four years for genetic testing to be completed but now it takes just two months, they report.

And a single test is used to identify all the 22 genes.

Researcher Professor Andrew Hattersley said: "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 practised, and will be seen in many areas in medicine in the future."

The progress was welcomed by the charity Diabetes UK.

Director of research Dr Alasdair Rankin said: "We are proud to have supported this ground breaking work, which has capitalised on recent genetic advances to boost our understanding and make a real difference to the lives of children with this rare condition."

Lancet 17 August 2015 [abstract]

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