Leading change

The Honorary Clinical Nursing Professor in Monogenic Diabetes at the University of Exeter Medical School established the national Genetic Diabetes Nurse educational initiative to improve awareness, recognition and management of monogenic diabetes across the UK. This initiative has led to improved outcomes and experience for individuals with monogenic diabetes as well as better use of resources across diabetes services nationally.

Where to look

Monogenic diabetes (diabetes caused by a genetic change in a single gene) affects approximately 2 per cent of cases of diabetes in the UK. The nursing professor recognised there was clear unwarranted variation in the number of services available for those with monogenic diabetes, as well as lower than expected rates of patients being diagnosed with and treated optimally for their monogenic diabetes. There was also an observed unwarranted variation in awareness levels and understanding amongst healthcare professionals.

Many cases of monogenic diabetes are initially misdiagnosed as type 1 or type 2 diabetes. However, genetic testing can be used to accurately diagnose monogenic types of diabetes. This is important as it can predict how the person may be affected by their condition, explains other symptoms, guides appropriate treatment and enables genetic counselling of family members. Many patients with a confirmed genetic cause for their diabetes have been able to stop insulin injections and achieve better blood glucose control on tablet treatments (Pearson et al., 2006). Research literature highlights that eighty percent of individuals with monogenic diabetes are initially misdiagnosed as having Type 1 or Type 2 diabetes, which may result in inappropriate treatment options, with many receiving unnecessary insulin injections, due to low levels of awareness of the condition (Shepherd et al., 2014).

What to change

Research indicates there are between 20,000-40,000 cases of monogenic diabetes in the UK. However, the nursing professor identified that before the implementation of the new initiative, only 47 individuals with monogenic diabetes were known nationally to the Molecular Genetic Testing department in Exeter. The nursing professor investigated monogenic diabetes screening and referral pathways and reported an average of 9 years from diabetes diagnosis to correct molecular genetic diagnosis. This highlighted the unwarranted variation in awareness levels of the condition – notably that awareness levels were contributing to low levels of service provision across the country.

Before the initiative, referral rates for genetic testing across the UK varied from <20 per million from Wales and Northern Ireland to >50 per million from South West England and Scotland (Shields et al., 2010), highlighting a previous misdiagnosis. Indeed, many individuals were diagnosed with Type 1 diabetes and were being treated with insulin injections. Following the subsequent testing, it was identified that this treatment was not needed in many cases.

How to change

The nursing professor reviewed the evidence and identified that there were wide variations across the UK in terms of referral rates for genetic testing and the number of cases of monogenic diabetes identified (Shepherd et al 2016).To support early identification, appropriate treatment and the development of local services, the nursing professor and her team established an accredited national Genetic Diabetes Nurse (GDN) educational initiative. This training supported the development nationally of the GDN role, so that as specialist nurses they were in positions to address variation in practice, enhance service provision and increased knowledge locally. A key element of the role is routine awareness raising amongst a wide range of health and care professionals in both primary and secondary care, including paediatric and adult care, diabetes, renal and obstetric teams.

Adding value

• Better outcomes – GDN training and awareness raising has supported healthcare professionals to confidently identify the appropriate genetic diagnosis for patients and to treat monogenic diabetics in their services. GDN support has meant that staff caring for this patient group can comprehensively assess and appropriately signpost patients with monogenic diabetics to genetic testing so that treatment is not delayed and misdiagnoses are not given. In relation to specific outcomes, the initiative has supported the launch of 67 trained GDNs in practice. Outcomes include:
  • Delivered more than 1000 awareness raising sessions to over 13100 healthcare professionals;
  • More than 10000 referrals for genetic testing have been received by the Exeter lab;
  • Supported identification of more than 4600 confirmed cases of monogenic diabetes;
  • Aided the implementation of optimal treatment plans for thousands of patients.
• Better experience – Patient experience, quality of life and their diabetes glycaemic control has improved dramatically. Quotes include:
  • “The most amazing care was advice on the best way to treat my type of diabetes. This change in medication has made me feel so much better and is giving me more consistent blood sugar levels. To have access to this level of support is life changing for me – I do not feel like a number, I feel like an understood informed individual. I cannot thank the Genetic Diabetes Nurses enough”
  • “After reading a newspaper article about MODY and contacting Exeter, I was put in touch with my local Genetic Diabetes Nurse who arranged blood tests for me and supported me when I was confirmed as having MODY. Having been on insulin for 25 years, it was a relief to talk to someone who understood and who could help me with the transformation to tablets. The Genetic Diabetes Nurse was also interested in assessing my daughter who had a diagnosis of ‘Type 1 diabetes’ and was injecting daily. My daughter is also now taking Gliclazide which has impacted positively on her life. It is very supportive to have the occasional phone call from the Genetic Diabetes Nurse to follow up the diagnosis and to ensure all is well.”
• The GDNs have also found this extended role to be extremely rewarding:
  • “Being part of the GDN project has been both exciting and stimulating, and has changed practice not only for myself but the whole team who are now always on the look-out for possible patients”
  • “With 25 years’ experience as a DSN I thought I knew a bit about diabetes and its management.  Since starting as a GDN, I have gained a new perspective about diagnosing and finding the best available treatment options for all patients with diabetes.” 
• Better use of resources – The educational initiative has had a positive impact on the use of resources both locally and nationally. With the introduction of awareness training and the provision of the GDN role, patients are now accessing appropriate care in a more effective and timely way. This has anecdotally supported more efficient use of diagnostic and screening pathways across the country. To support future analysis of the impact of the educational initiative, the nursing professor is working with health economists to address the impact of the enhanced service for monogenic diabetes patients.

Challenges and lessons learnt for implementation

Getting the correct genetic diagnosis for a patient can result in reduced treatment needs including measures such as blood glucose monitoring costs and crucially, improvements in quality of life.

The use of a programme such as this, using specialist nursing roles, has supported an enhanced knowledge and skills base for diagnosing and treating monogenic diabetes across the UK.

Work is also underway to extend training for other health professionals so they can also contribute and support care of those with monogenic diabetes.

For more information contact

Maggie Shepherd, Honorary Clinical Professor in Monogenic Diabetes at the University of Exeter Medical School and Lead Nurse for Research at the Royal Devon and Exeter NHS Foundation Trust.
m.h.shepherd@exeter.ac.uk