Impact case study database

Research shows there are between 20,000-40,000 cases of monogenic diabetes in the UK. Shepherd investigated its screening and referral pathways and reported an average of nine years from diabetes diagnosis to correct molecular genetic diagnosis. This highlighted the unwarranted variation in awareness of the condition – and that low awareness of monogenic diabetes was contributing to low levels of service provision across the country. Getting the correct genetic diagnosis for a patient can result in reduced or less invasive treatment needs, reduced need for blood glucose monitoring, and crucially, improvements in quality of life.

Research and service evaluation by Prof Shepherd and the Exeter team led to the creation and ongoing success of a specialist clinical network of Genetics Diabetes Nurses (GDNs), a related clinical education programme with global reach, and ten specialist monogenic diabetes clinics across the UK. The national GDN educational initiative has improved awareness and recognition of monogenic diabetes [5.1]. In addition, health and quality of life has been enhanced through nurse-led initiatives for clinical education and service development. This has substantially reduced the incorrect diagnosis and inappropriate treatment of people with diabetes, and enabled hundreds of patients to change to effective treatments in a safe and acceptable way.

4.1 Ongoing care delivery by the Genetics Diabetes Nurse network

The GDN network was established by Exeter researchers and clinicians (2002) to raise awareness of monogenic diabetes and ensure patients likely to have monogenic diabetes were referred for genetic testing. The GDN project has grown to be an effective, innovative means of disseminating research-based genetic knowledge from a centre of excellence. Since 2013, it has also become an established, more securely funded and successful element of how the NHS cares for people affected by rarer, genetic forms of diabetes [5.2]. GDNs are existing diabetes specialist nurses who receive additional training in monogenic diabetes such as: skills in differential diabetes diagnosis; recognition of monogenic diabetes; treatment requirements in monogenic diabetes and genetic counselling. [5.3] They also play a key role in spreading awareness and knowledge of monogenic diabetes amongst other healthcare professionals and support families receiving a genetic diagnosis.

Sixty-two GDNs have been trained since the project started (including 22 new GDNs trained from 2014; and 23 are currently in post, in early 2020) [5.5]. Ten dedicated monogenic diabetes clinics have been set up by GDNs across the UK since 2002, and our research enables them to provide specialised effective and safe care for diabetes patients with a genetic diagnosis, and also specialised support for other local healthcare teams.

4.2 Training and education of diabetes professionals

All our research findings to aid the recognition, diagnosis and correct treatment of those with monogenic diabetes have been incorporated into our training courses and disseminated through the GDN network and international training course.

Since 2014, our annual 2-day training course on monogenic diabetes has been attended by 516 clinicians (382 UK and 134 worldwide) from 40 countries [5.5]. The course is always over-subscribed, with a waiting list each year, and is highly evaluated: 91% rated the course 5/5 as being “highly relevant to their practice”. In turn, these trained Genetic Diabetes Nurses have gone on to give presentations to more than 10,000 attendees at their own training sessions since January 2014 [5.5] The research-based clinical knowledge has also been disseminated online via the Diabetes Genes website in order to educate healthcare professionals involved in diabetes care worldwide. (with 420,885 visitors as of 20 July 2020) [5.6].

4.3 Increased referrals and diagnosis of monogenic diabetes

Partly as a result of these service developments and professional education, referrals for genetic testing are increasing, and a total of 1,689 patients have been referred for genetic testing by the GDNs since January 2014 [5.7]. Over three hundred (308) of these have had a confirmed diagnosis of monogenic diabetes. [5.7] The specialised skills and knowledge of GDNs have also led to a higher positive pick-up rate of monogenic diabetes in counties with GDNs than patients referred from elsewhere and have also increased referrals of family members compared with areas with no GDNs [3.5]. Data supplied by the (NHS) Exeter Genomic Laboratory’s monogenic diabetes testing registry [5.6] has been analysed to show this:

4.4 Treatment change and related health and economic outcomes

Neonatal Diabetes: Diabetes during early childhood creates a psychosocial challenge to the families of those children. Insulin injection technique, blood glucose monitoring, appropriate infant feeding, and recognition and treatment of hypoglycaemia can be traumatic for both the babies and their parents. One dramatic example of the success of our precision medicine approach is in neonatal diabetes. Previously, these babies were diagnosed with Type 1 diabetes and expected to remain on insulin injections for their whole lives, often with poor outcomes. Our research demonstrating that these patients could be treated with oral sulphonylurea therapy, has enabled babies to transfer off insulin and onto tablets. The discovery has fundamentally changed treatment and prognosis for children with neonatal diabetes worldwide leading to beneficial impacts on their health and well-being and family life [5.4]. As a mother, who was a participant in one of our published studies shared (p.141 of **[3.2]**):

“Family life has completely changed. Before we were unable to live the life of a normal family as he had 2-3 hypos a day, now he is more independent, he is generally well and has not had one hypo. I even had the courage to let him go to a friend’s for tea.”

Monogenic diabetes: Of the 308 patients with a confirmed diagnosis of monogenic diabetes since 2014 it is estimated that two-fifths have been able to stop insulin treatment due to the support from these new services [5.6]. The benefits to patients of receiving the correct genetic diagnosis have been profound; not only have many patients been able to stop daily insulin injections completely, but the diagnosis and simpler treatment regimens have also led to improvements in glycaemic control, quality of life and regained personal identity [5.7][3.1][3.2][3.6]. One MODY patient in an early study said:

“I can’t describe how it feels. It’s just a huge relief not being on insulin … The best thing about it is that you felt like you weren’t a diabetic.” p.146 in [3.1]

Also, a Lead Diabetes Nurse Specialist at an NHS Trust in England said:

“I have now been involved in the GDN project for five years and … We regularly see patients whose lives have been changed by more appropriate treatment, in some cases stopping insulin entirely. I hear multiple soundbites. One that springs to mind is: “it’s like a dream - not being on the insulin”. Equally as satisfying is stopping unnecessary treatment and diabetes reviews for those with glucokinase MODY ** - as in the case of an elderly man on triple oral therapy for his ‘diabetes’ who was able to stop treatment once his [genetic] diagnosis was confirmed. The project has benefitted patients, made me a better clinician.” [5.3]

**A diagnosis of glucokinase MODY, a particular type of monogenic diabetes, means people can stop all their diabetes drug treatments and remain healthy.

Because monogenic diabetes disproportionately affects younger people with diabetes, and treatment is life-long, correct diagnosis and treatment is also a cost-effective use of NHS resources. A recently published (Exeter University) model-based economic evaluation of genetic screening for MODY [5.8] concluded: “Although the estimated cost savings are relatively small per person screened (approximately £100–£200 over a lifetime), assuming there are approximately 200,000 individuals in England and Wales who are <50 years old and have had a diagnosis of diabetes before the age of 30 years, between £20 million and £40 million could be saved if such strategies are used.” [5.8]. While the scale of screening is not yet at these levels, this suggests NHS cost savings are already being achieved.

4.5 National and international recognition of these impacts

The GDN project was winner of a Quality in Care Diabetes Award for innovation in 2015, as the ‘Best innovation in integrated commissioning, or integrated care model’ [5.9]. The GDN project has since been suggested by Health Education England as a model for the translation of genetic findings into clinical care, and Prof. Shepherd’s contributions to diabetes care globally have been recognised through being named as one of the ‘Women in Global Health’s 100+ Outstanding Women Nurses and Midwives’ (2020 Year Of the Nurse and Midwives) for “notable nurses and midwives doing extraordinary work in their field and communities” [5.10].