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Hundreds of healthcare staff will be trained to spot signs of monogenic diabetes. 

Exeter research underpins NHS bid to identify thousands of cases of rare diabetes

Exeter research is providing knowledge and testing to support an NHS bid to diagnose thousands of people who are unaware that they have a rare form of diabetes.

Monogenic diabetes is caused by a mutation in a single gene. Over the last 20 years, research at the University of Exeter has identified 21 of the genes that can cause the condition, improving testing and ensuring people receive the best treatment and care to avoid complications. In partnership with the Royal Devon & Exeter NHS Foundation Trust (RD&E), the Exeter lab provides genomic testing for free across 200 countries.

Now, the NHS is rolling out genetic testing across England to identify people who are unaware that they may have the condition. Professor Maggie Shepherd, at the University of Exeter Medical School, leads a training programme to upskill hundreds of healthcare staff to spot signs of monogenic diabetes.

Andrew Hattersley, Professor of Molecular Medicine at the University of Exeter and consultant physician at the RD&E, said:  “It’s great  to see that the research into genetic types of diabetes supported by the University of Exeter over two decades and the translation into diagnostic tests for clinical care by the Royal Devon and Exeter NHS Trust is genetics lab now being promoted into mainstream clinical care nationally.  Central NHS funding is being provided for the testing, and the education of NHS staff by Prof Maggie Shepherd and her team – this will help more patients get the right diagnosis and the right treatment”

Around 12,000 people in England are thought to have monogenic diabetes,  a condition, which if left undetected can mean patients struggle to manage glucose levels.

If high glucose levels go untreated for a long period of time it can cause blindness, amputations and greater risk of a heart attack.

Most patients newly diagnosed with monogenic diabetes will be able to manage their condition better by taking tablets or by diet to control their glucose levels instead of having to endure often unnecessary and time-consuming insulin injections.

The test can also detect whether children have inherited the affected gene and will go on to develop monogenic diabetes, typically before the age of thirty.

The condition makes up one in fifty diabetes cases, but it is difficult to diagnose or distinguish from the more common types of the condition – type 1 or type 2 diabetes.

The NHS Long Term Plan is committed to increasing access to genomic testing and to improving diabetes care across the country.

NHS trusts in England will be supported to put in place a team of monogenic diabetes experts to support patients – with up to 280 staff to be trained over the next year.

The new project, run in partnership between the NHS England Diabetes Programme and the NHS Genomic Medicine Service, will provide remote training to support teams in hospital trusts to improve diagnosis and identify people who may have the condition.

Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics in the NHS, said: “I’m delighted we’re rolling out this initiative which will no doubt be welcomed by the thousands of patients who’ll benefit from being able to access genetic testing for monogenic diabetes and the personalised treatment interventions.

“The NHS continues to lead the way in using the latest genomic technology and this is a great example of how genomics can help diagnose, inform treatments and deliver improved outcomes for patients. And it shows how the NHS is delivering on the commitments set out in the NHS Long Term Plan to increase access to genomic testing.”

Jen Gerrard, a 45-year-old transport business owner from Wigan, was revealed to have monogenic diabetes rather than Type 1 diabetes after a genomic test.

Jen said: “Since I was diagnosed and my treatment was changed from insulin injections to tablets, I feel much better in myself as my blood sugar levels are now stable and I don’t have the highs and lows that I used to.

“I used to have damage to the blood vessels at the back of my eyes due to my diabetes, but since getting the correct genetic diagnosis my blood glucose control is much better with the tablet treatment and that has dramatically improved. I’ve also managed to lose two stone which I was never able to do before!

“As I am no longer on insulin treatment, I’m now able to hold a full HGV license, something I never dreamed I’d be able to do.”

Dan Howarth, Head of Care at Diabetes UK, said: “The rollout of this programme is a significant and hugely positive development. It will help ensure people will get the most appropriate treatment and support for this rare type of diabetes, meaning blood sugar levels can be better managed, and the risks of developing the devastating complications of diabetes can be reduced. And as this form of diabetes runs in families, other family members can be informed of the symptoms to look out for, to enable timely treatment and support.

“More understanding of the rarer types of diabetes is crucial, and Diabetes UK is investing in research which will hopefully give us a greater understanding of these conditions.

“This new programme builds on the work of the NHS Diabetes Programme and NHS Long Term Plan, which have led to improvements in care for people with all types of diabetes and in the prevention of Type 2 diabetes. This work must be continued and built upon as the NHS recovers from the pandemic.”

Health Minister, Nadine Dorries, said: “We are dedicated to improving care for those with diabetes – a commitment we have built on through the NHS Long Term Plan – and this latest cutting-edge innovation will have a positive impact on thousands of patients and families.

“The Office for Health Promotion which is launching later this year will build on our range of programmes to support people with diabetes and will lead national efforts to improve health.”

The NHS Long Term Plan set out a range of actions for the treatment and care of diabetes, including expanding the world-leading Type 2 Diabetes Prevention Programme so that up to 200,000 people a year could benefit, and committed to making non-invasive glucose monitoring technology available to one fifth of people with Type 1 diabetes, and continuous glucose monitoring available all pregnant women with Type 1 diabetes.

Date: 10 September 2021