NHS to diagnose thousands of people with rare diabetes

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Genetic testing on the NHS will spot a rare form of diabetes in thousands of people unaware they are living with the disease, alongside a new training scheme for staff.

The test being rolled out across England can also spot whether people have passed the affected gene on to their children, while the health service is training hundreds of staff across the country to be experts in the rare condition.

Known as monogenic diabetes, around 12,000 people in England are thought to have the 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.

Professor Partha Kar, NHS national speciality advisor for diabetes, said:

“We are already making progress against the goals set out in the NHS Long Term Plan for better diabetes care, and the rollout of this programme will mean more patients across the country will benefit from access to specialist genetic testing and optimised treatment.

“Monogenic diabetes is difficult to diagnose, and we will more easily be able to identify those who need to be referred for genetic testing by training teams on monogenic diabetes in each Trust.

“The NHS has long been at the forefront of clinical advances in care for major diseases like diabetes – being able to spot the condition from birth is just another example of how we are helping people with the condition to live longer and healthier lives.”

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.”

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.

Earlier this year, the NHS announced the roll-out of an ‘artificial pancreas’ designed to revolutionise the life of people with Type 1 diabetes, which continually monitors blood glucose and automatically adjusts the amount of insulin given through a pump. It can significantly reduce the need for finger prick tests and prevent life-threatening hypoglycaemic attacks.

The NHS has also started using social media to reach people at risk of developing Type 2 diabetes to support them to make changes to their lifestyle and prevent the condition, by using Facebook adverts to raise awareness of risk with certain groups and encourage them to sign up for support from the Healthier You NHS Diabetes Prevention Programme.

NHS England is rolling out a new programme to support trusts across the country to help improve identification of monogenic diabetes. The initiative will ensure training and support for a designated nursing and medical lead in each Trust, with a national virtual training package developed by an expert monogenic diabetes team at the Royal Devon and Exeter NHS Foundation Trust, and practical support provided by 15 specialist genetic diabetes nurses.

The Royal Devon and Exeter NHS Foundation Trust is part of the NHS South West Genomic Medicine Service Alliance, one of seven regional NHS Genomic Medicine Service Alliances launched in the last year to transform how genomics is used in mainstream healthcare to improve outcomes for patients.

The estimated prevalence of monogenic diabetes is 8 confirmed cases per 100,000 population.

With more than 170 cases of monogenic diabetes diagnosed each year, these account for 1-2% of all diabetes diagnoses, and 3.6% of those diagnosed with diabetes under the age of 30.

Education for health professionals through the national Genetic Diabetes Nurse (GDN) project has increased awareness and identification rates. Since 2002, experienced Diabetes Specialist Nurses have been trained by the Exeter team to become regional experts who educate other professionals and coordinate patient care.

How is monogenic diabetes different to Type 1 or Type 2? Monogenic diabetes is caused by a mutation in a single gene which is passed on from an affected parent to their child. Each child has a 50% chance of inheriting the affected gene (and therefore developing diabetes). The diabetes can often be traced back through multiple generations. While people who have Type 1 or 2 diabetes may be genetically predisposed to developing it, the inheritance pattern is less clear and other factors can also be influential.

Why is monogenic diabetes harder to diagnose? It lacks any clear distinguishing features to T1 or T2. There are two types: maturity-onset diabetes of the young (MODY), and neonatal. The three main features of MODY are that it often develops before age 25, is passed down from an affected parent to their child, and does not necessarily need insulin treatment. Neonatal diabetes is diagnosed within the first six months of life so is easier to identify from this criteria alone, but the gene affected still needs to be identified through genetic testing. Clinicians can use an online probability calculator to help them to decide whether appropriate to refer for genetic testing.

How does treatment differ? All people with Type 1 have to take insulin.  Most people with Type 2 can be successfully managed with tablets initially but may need to take insulin eventually.  Most patients with monogenic diabetes may be best managed with oral medication.

Are there any negative effects of being treated for Type 1 or 2 when you have monogenic diabetes? Potentially poorer glucose control, which carries risks of developing diabetes complications, and being on insulin when this is not necessary. Not having the correct diagnosis also means that other family members may not be identified, and the likelihood of children developing diabetes is not recognised.

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