Recognising and improving treatment in monogenic diabetes globally through educational initiatives

Genetic diabetes is often misdiagnosed as Type 1 or Type 2, meaning continued ineffective, invasive and often unnecessary treatment.

Research shows there are approximately 16,500 cases of monogenic diabetes in the UK (only 23% identified to date), caused by a genetic change in a single gene, in the UK. Getting the correct diagnosis for a patient can result in better treatments and improved quality of life.

The team based in Exeter have helped to understand different types of genetic diabetes, including the best ways to treat them. They identified that monogenic diabetes, accounts for 3.6 percent of diabetes diagnosed under the age of 30.

They have also helped to raise awareness of monogenic diabetes, including  Maturity Onset Diabetes of the Young (MODY) and neonatal diabetes. The group have increased understanding of the clinical characteristics of different types of monogenic diabetes and developed and evaluated ways to identify those patients likely to have this form of diabetes. This has enabled them to better identify who should be referred for genetic testing and understand of the likely success of different treatments.

Continued work led to the creation of a specialist clinical network of Genetics Diabetes Nurses (GDNs), an initiative which takes existing diabetes specialist nurses and gives them additional training in monogenic diabetes,  with 67 GDNs trained since 2002 and the creation of 10 specialist monogenic diabetes clinics now existing across the UK. A 2 day course in monogenic diabetes was developed and has been held annually for health care professionals in diabetes for the past 4 years. This course has been attended by 516 clinicians from 40 countries. The course is highly regarded and regularly over-subscribed.

The work carried out has seen a marked increase in both referrals and diagnosis of monogenic diabetes.

In 2015, the GDN project received a Quality in Care Diabetes Award for innovation, seen as the ‘Best innovation in integrated commissioning or integrated care model’. Meanwhile, members of the team have been personally recognised for this project, including Professor Maggie Shepherd who was named as one of the ‘Women in Global Health’s 100+ Outstanding Women Nurses and Midwives’2020.

An expansion  to the training offered in monogenic diabetes has recently been made possible with support from NHSE.  The 2 day course is now offered virtually with the next course this month attracting over 360 delegates. The ambition, working with NHSE and the Genomic Medicine Service Alliances is to have a trained monogenic diabetes lead consultant and diabetes specialist nurse in every Trust in England. Thanks to the research and training provided by the precision diabetes team in Exeter, it has helped doctors and nurses to identify  patient’s likely to have a monogenic form of diabetes to ensure they are referred for the correct tests, helping them receive the correct molecular genetic diagnosis. In many cases, this has meant that patients have been able to stop insulin injections or even treatment altogether. This has provided improved both quality of life and glycaemic control for patients.