(9 November 2023) Monogenic Diabetes (MD) affects approximately 2% of people in the UK with diabetes. A small percentage. And yet the number of individuals this equates to, some 12,000, is far from insignificant.


This rare form of diabetes, caused by a variant in a single gene, is difficult to diagnose or clinically distinguish from more common types of the condition – type 1 or type 2 diabetes. This can lead to patients being treated with insulin injections, which may not be the optimum treatment, as their condition can sometimes be managed by oral medication instead, with implications for a much improved quality of life.

To improve the diagnosis of monogenic diabetes, genetic testing is being rolled out across England. This allows for early diagnosis of the condition, ensures patients receive the most appropriate treatment, and can reduce long term complications.

It also means that relatives who may be at risk of the condition can be identified, appropriately monitored, and treated early, reducing the risk of long-term complications from diabetes.

Monogenic Diabetes in the North East and Yorkshire

For the past two years, the NEY GMSA team has contributed to a national project focused on training staff across the country to be much better informed about this rare condition. The project is being led by SW GMSA and experts from Exeter University and is aimed at improving the diagnosis and treatment of monogenic diabetes (MD).

To support roll-out in the NEY, lead nurses for the project, Lea Davidson and Julie Goodfellow, supported by regional MD specialist nurse, Julie Cropper, have reached out and engaged with healthcare professionals (HCPs) working with diabetes patients across the region.

Their awareness raising efforts have involved a raft of local and regional engagement events, as well as a well-attended webinar, with local multidisciplinary experts, supported by volunteer patient Andrea, delivering the content.

Andreas’s powerful and enlightening testimony shed light on how the disease has impacted one patient’s life, and how the correct diagnosis led to appropriate treatments being given.


Doctors, nurses, pharmacists and dieticians, working in adult and paediatric services across the region, have been encouraged and supported to undertake the highly specialised Exeter University training programme.

This programme is aimed at raising levels of expertise and competence in the recognition and clinical management of MD. And has led to the development of a local network of MD champions in every acute Trust across the NEY region, as well as raising the number of multidisciplinary colleagues trained.

A regional expert forum chaired by Professor Mark Walker, to discuss and share best practice and learning opportunities has also been developed, supported by the NEY GMSA MD team.

The Impact

Statistics captured during the project are showing an increase in the number of genomic tests for MD, leading to more patients getting the correct treatment in a timely fashion.  This will help to improve the quality of life for patients, through more focused and appropriate treatment choices and improved identification of at-risk family members.

The work has generated more interest in MD and has been a catalyst for further work in both primary and maternity care. Links with local GPs have raised awareness of MD and have led to further investigation of techniques to identify patients at risk of MD using software algorithms.

Indirectly, profile raising and discussions about MD amongst regional midwifery colleagues have helped to highlight the risk of MD in gestational diabetes, and work is now underway aimed at improving the awareness and identification of inherited diabetes during pregnancy.

Why is all this important?

To put it simply, patient benefits are central to this work. The project has proven a clear link between accurate diagnosis, leading to correct treatment and ultimately better patient outcomes & better quality of life.

Identification of a genetic disease through earlier testing means that symptoms can be picked up and appropriate clinical management implemented earlier too, reducing the long-term risk of complications.