Summary
Monogenic diabetes (MD) accounts for 3.6% of diabetes diagnosed <30 years but ~80% are initially misdiagnosed, resulting in inappropriate management. An estimated 12,800 UK MD cases are still to receive a correct diagnosis, so a national transformation project was instigated to reduce variation in referral/identification. The aim was to train a diabetes consultant and DSN in every trust in England as MD leads to increased awareness/referrals for genetic testing. A two-day, virtual introductory MD training course was developed and held on four occasions (June 2021-Oct 2022). Training resources were added to www.diabetesgenes.org, enabling self-paced access. Referral/pick-up rates were collated pre and post training.
Innovation
A national network of Genetic Diabetes Nurses (GDN) was initiated in 2002 with Diabetes Specialist Nurses (DSN) trained in MD and tasked with increasing awareness across their regions. However, some areas had no GDN and there was widespread geographical variation in identification of MD. Despite increased referral and recognition of cases over a 10-year period, geographical variation remained, with >12,000 cases undetected. Working with NHSE and the Genomic Medicine Service Alliances (GMSA), this project aimed to identify and train a named lead for MD in every trust with a diabetes service in England. It evolved from a model with a single regional expert (a GDN) to one with a local expert in each trust supported by MD experts (a diabetes consultant and GDN in their GMSA region). Each organisation set out to identify and train both a DSN and consultant lead in MD (ideally from both adult and paediatric teams) and other staff to provide resilience and ensure greater awareness and best practice for patients with MD wherever they lived. The challenge was to move from about 15 regional GDNs to leads in all 128 trusts in England with a diabetes service. The Exeter team worked with NHSE and the GMSAs to provide free, virtual training, adapting a face-to-face two-day course into a two-day virtual training course, with recorded training sessions for HCPs unable to attend. Those trained were asked to become leads for MD in their organisations and details were provided to the expert diabetes consultant and GDNs in the GMSA regions to offer ongoing support through virtual case discussions and follow-up. The Exeter team maintained the register, supplying named leads if areas had patients requiring review or support. This was the first time that named individuals trained in MD had been identified across England.
Equality, Diversity and Variation
Barriers to genetic testing have largely been removed as the cost of genetic testing is now centrally funded. The criteria for genetic testing were developed by the Exeter team and ensure appropriate referrals. Pick-up rates have been maintained throughout to raise awareness and recognition of MD at every trust. MD is identified in all ethnicities. Guidance regarding eligibility for genetic testing on www.diabetesgenes. org includes adjusted BMI and age of diagnosis for those from high prevalence ethnic groups. Sessions on recognising MD in different ethnicities have been included in the two-day course and subsequent masterclasses and are available on the website. There have been more referrals across all geographies, leading to a reduction in variation of detection of MD. The expert consultants and GDNs within the GMSA regions continue to provide support to trust MD leads to ensure that trend continues.
Results
A total of 1,054 individuals, from nine different adult/paediatric HCP groups (consultants, registrars, DSNs, midwives, dietitians, pharmacists, health care scientists, GPs, practice nurses), attended the two-day course, 256 attended masterclasses and 376 registered for online self-paced training. This included 46 international delegates from 44 different countries. Now, 122/128 (95%) trusts in England with a diabetes service have a named MD lead: 71% with consultant and DSN lead, 20% with a consultant lead and 4% with a DSN lead. Plus, 86% of organisations have additional staff who have attended training, ensuring sustainability. Referrals have increased >threefold with no deterioration in pick-up rate, with 618 new diagnoses. This includes 297 with GCK MODY, 140 HNF1A MODY, 52 HNF4A MODY, 35 with mitochondrially inherited diabetes and deafness (MIDD), 31 HNF1B MODY and 65 with rarer genetic causes. The correct diagnosis means those with GCK MODY can stop all treatment and be discharged from follow up, many of those with HNF1A or HNF4A MODY can transfer from insulin to sulphonylureas and all patients can receive guidance on management, likely clinical course and risk to offspring. Correct diagnosis also reduces costs. NHSE Diabetes Programme and the GMSA supported this initiative with two-year funding. This enabled the training to be provided free for those attending the two-day courses and the masterclasses and the talks are free on the website. The funding also supported the seven expert diabetes consultants within the GMSA regions and two Exeter team members.
User Feedback
All sessions were evaluated by delegates via an electronic feedback form. Participants were asked to score sessions on relevance and enjoyment and there were opportunities for free text responses. A total of 80% scored the course 5/5 for relevance and 18% 4/5, with 78% scoring the course 5/5 for enjoyment, 21% scoring 4/5. Feedback led to revised timings of some sessions and short breaks. Some delegates said they would have preferred a face-to-face course, but a virtual format was preferred by others.
Dissemination and Sustainability
The virtual training is open to HCPs across the world. All talks have been uploaded onto www.diabetesgenes.org to enable free access for HCPs and patients. The benefits are seen in the patients receiving a correct diagnosis following genetic testing. Ongoing virtual Masterclasses will continue to be scheduled to continue to increase knowledge and engagement among HCPs. This model is sustainable, with all sessions pre-recorded and accessible, but with the opportunity to add and update as required. Other services could easily replicate this model of training in other areas; it is low cost and easy for HCPs to access it. The work has been disseminated via the Diabetes UK annual conference and the International RCN research nursing conference. It is being written up for publication.
