Monogenic diabetes is a rare condition caused by a single gene mutation. Estimates reveal at least 80 per cent of these cases remain undiagnosed, which is impaired by the high incidence of diabetes in the region. In the Middle East and North Africa, 192,500 children and adolescents live with Type 1 diabetes. The prevalence of diabetes in the UAE stands at a staggering 16.3 per cent compared to 9.3 per cent worldwide .
The first step in managing monogenic diabetes is identifying the genetic mutation responsible which involves genetic testing. There are over 30 different genes that cause this condition. Mutations in HNF1A, HNF4A and HNF1B were identified in the late 1990s, mutations in KCNJ11 and ABCC8 causing neonatal diabetes were identified in the mid-2000s and new genes causing monogenic diabetes continue to be discovered.
Related: Advanced technologies and data are key to driving transformation of healthcare
Depending on the genetic mutation, monogenic diabetes may respond differently to medications. In some cases, oral medications may be sufficient to manage blood sugar levels and in others, insulin may be necessary. Regular monitoring and lifestyle modifications also play a significant role in managing monogenic diabetes.
Training nurses for monogenic diabetes care
One leading expert in the field who has made significant strides in monogenic diabetes is Nurse Margaret Shepherd, Associate Director of Nursing Research and Honorary Clinical Professor of Monogenic Diabetes at the Royal Devon University Healthcare NHS Foundation Trust. As the distinguished winner of the 2nd edition of the Aster Guardians Global Nursing Award, her journey in transforming the care for this rare condition emphasises the power of education and highlights the vast opportunities that exist to enhance the lives of patients. A substantial portion of her award prize, a generous US$250,000, is dedicated to supporting genetic testing globally.
Through her network of trained nurses and her commitment to global healthcare, she is contributing to reducing the diagnostic gap, improving the quality of care, and ultimately, changing the lives of patients.
“This type of diabetes affects around 3.6 per cent of those diagnosed below 25 years of age, however, it is initially misdiagnosed in around 80 per cent of cases. Ensuring the correct genetic diagnosis is crucial. Many patients, often initially treated with insulin injections, may be better treated with low doses of tablets depending on the genetic cause identified, leading to improvements in blood glucose levels and quality of life,” Nurse Margaret explained.
Related: Smart pens and insulin pump therapy for people with Type 2 diabetes
Nurse Margaret’s research, focusing on the UK’s paediatric diabetes population, revealed a 2.5 per cent prevalence of monogenic diabetes. Most were managed through tablets rather than insulin. A significant finding was a child under six months old with diabetes, referred to as neonatal diabetes, is highly likely to have a single gene change causing diabetes. Referral for genetic testing is crucial, as it can result in improved treatment options, potentially leading to better blood glucose control and quality of life.
To bridge this diagnostic gap and bring about accurate and timely diagnoses, Nurse Margaret has been a driving force and set up a national network of genetic diabetes nurses in the UK. The project ran from 2002 – 2021 and was successful in increasing referrals for genetic testing, confirming more cases, and ensuring correct treatment and follow-up of other family members.
“This aimed to train diabetes specialist nurses across the UK in monogenic diabetes and by using a model of ‘train the trainer’ enabled them to teach others across their regions about these rare genetic types of diabetes. We continue to offer virtual masterclasses and the training materials can be accessed for free by anyone across the world.”
Since its inception, around 4,500 patients in the UK have received a confirmed diagnosis of monogenic diabetes. Nurse Margaret’s mission continues as she focuses on establishing a global network of nurses passionate about monogenic diabetes who can seek support from experienced peers within the field
