Diabetes patient

New test for monogenic diabetes to diagnose thousands of people

New genetic testing on the NHS in England will spot a rare form of diabetes in thousands of people unaware they are living with the disease.

It will also be able to see whether people have passed the affected gene on to their children and if they will go on to develop monogenic diabetes, typically before the age of thirty.

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.

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.”

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

On the other hand, around 12,000 people in England are thought to have monogenic diabetes, which if left undetected, can lead to patients struggling to manage glucose levels. This can cause blindness, amputations, and lead to a greater risk of a heart attack, if high glucose levels go untreated for a long period of time. This only highlights the need for early detection, and this test is thought to help improve a patients’ quality of life through helping them manage this condition earlier.

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.

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.”

As part of this a new scheme, hundreds of staff in NHS trusts across the country 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 national virtual training package which will be used, was developed by an expert monogenic diabetes team at the Royal Devon and Exeter NHS FT, and practical support provided by 15 specialist genetic diabetes nurses.

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.

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

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.”

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 patients. This included expanding the Type 2 Diabetes Prevention Programme so that up to 200,000 people a year could benefit, as well as committing to make non-invasive glucose monitoring technology available to one fifth of people with Type 1 diabetes, and continuous glucose monitoring available to all pregnant women with Type 1 diabetes.

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