Improving diagnosis and clinical care by early genetic testing in neonatal diabetes
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Research by the University of Exeter has identified the causes of more than 20 genetic subtypes of diabetes, leading to improved treatment and better quality of life.
Exeter is the world-leading centre for research into neonatal diabetes, a rare condition affecting babies which results from mutations (changes) in a single gene.
The Exeter Diabetes Genetics group has led the way in identifying new genetic causes of the disease and translated these discoveries into improved treatment for many genetic subtypes.
Through analysing the genes of 2,400 patients, the Exeter group have found 18 new, different causes of neonatal diabetes and a further four through collaborations. They have developed a diagnostic tool to analyse all 28 known neonatal diabetes genes.
For each new genetic type of neonatal diabetes identified, the group has also characterised the clinical features associated with defects in the gene, making them easier for healthcare services to manage clinically.
The Exeter group’s discoveries have resulted in patients with neonatal diabetes being referred for genetic testing much earlier than they used to be – in 2004, it would take more than five years to be referred whereas 2013, it was less than two months.
Both NHS and international guidelines have now emphasised that genetic testing should be performed for every patient diagnosed with diabetes in the first 6 months of life and should include all types of monogenic diabetes.
In 2006 the Exeter group, led by Professor Andrew Hattersley, discovered that around half of people with neonatal diabetes can come off insulin injections and be treated more effectively with sulphonylurea tablets. The tablets provide the key to unlocking the closed door of the insulin-producing beta cells and eradicated the need to inject babies and young children with insulin several times a day, whilst also benefitting from much better blood sugar control.
More recently, research has shown that patients using sulphonylurea tablets maintain excellent glucose control without having seriously low blood sugar levels and no evidence of deterioration in effectiveness over time.
The team have also raised awareness of the importance of early genetic diagnosis of neonatal diabetes by running yearly workshops and an online ‘Massive Open Online Course’ (MOOC) launched in 2016.
Managing diabetes in new-borns and infants is extremely challenging and this work has allowed almost half of the patients with neonatal diabetes can achieve optimal glucose control when treated with tablets rather than insulin injections.
The research into monogenic diabetes carried out in Exeter has been central to patient and family care around the world. More people are now being correctly diagnosed and living with more stable control over their blood sugar levels. Whilst there is a clear direct benefit to patients, it also helps families to support and care for them from an early age.
