Having an understanding of monogenic diabetes is of paramount importance for both patients and clinical personnel

Margaret Shepherd is the Associate Director of Nursing Research and Consultant Nurse for Monogenic Diabetes at the Royal Devon University Healthcare NHS Foundation Trust and Honorary Clinical Professor at the University of Exeter. She is the leading nurse for monogenic diabetes in the UK and provides advice to clinicians across the world regarding the management of this condition. She is also the winner of Aster Guardians Global Nursing Award 2023 and has utilised the opportunity to generate further awareness on monogenic diabetes, along with providing free genetic testing for those with neonatal diabetes to underserved populations. In an interaction with Kalyani Sharma, she shares her journey of turning to research and innovation and become a professor who is expanding the understanding of monogenic diabetes and increasing awareness about genetic testing

Can you tell us more about your background and how you became involved in the field of monogenic diabetes

I embarked on my nursing journey at Kings College Hospital in London. Initially, upon becoming a qualified nurse, I dedicated my efforts to a diabetes ward. A few years down the line, I transitioned to working in the diabetes clinic. My career took an exciting turn when I accepted the role as the inaugural diabetes specialist nurse at Greenwich District Hospital. I dedicated eight years of my professional life to this institution before my relocation to the South West of England in 1995. It was there that I joined the monogenic diabetes team based in Exeter.

Could you elaborate on the main types of monogenic diabetes and the key differences between them? Why is it crucial for both patients and clinical staff to be aware of these distinctions?

Monogenic diabetes, or diabetes caused by a change in a single gene, has different features and requires different treatment depending on the gene affected. There are around 30+ different genes that cause different types but can broadly be separated into: i) neonatal, ii) diagnosed under the age of 25 years with an affected parent and iii) those diagnosed under the age of 25 years with other syndromic features.

Anyone diagnosed with diabetes below 6 months of age, known as neonatal diabetes, is highly likely to have a single gene change causing their diabetes and should be referred for genetic testing. This is really important as around 50% of these individuals will have a change in the Katp channel genes which means they are best treated with high doses of a specific tablet rather than insulin injections.

Other types of monogenic diabetes typically present below the age of 25 years and individuals usually have an affected parent or child. In these cases there are a number of ways to help differentiate monogenic diabetes from Type 1 diabetes including testing islet antibodies and c-peptide, and the MODY probability calculator (see www.diabetesgenes.org) will help identify those most likely to have monogenic diabetes. Rarer causes of monogenic diabetes are also typically diagnosed young but can be associated with other non-pancreatic or syndromic features.

Having an understanding of monogenic diabetes is of paramount importance for both patients and clinical personnel. This knowledge enables access to genetic testing and confirmation of the gene responsible for the condition, which, in turn, can provide valuable insights for treatment, management, and the ongoing care of family members. Many of these patients may find that tablets are a more effective treatment option than insulin injections, underscoring the significance of early awareness and diagnosis.

You’ve been a driving force in setting up a national network of genetic diabetes nurses in the UK. Can you explain the goals and impact of this network in increasing awareness of monogenic diabetes?

Increasing awareness of monogenic diabetes within the healthcare community is vital for the accurate diagnosis and treatment of patients. The primary objective of the national Genetic Diabetes Nurse network was to educate diabetes specialist nurses throughout the United Kingdom on monogenic diabetes, equipping them with the knowledge and resources necessary to train fellow healthcare professionals within their respective regions. This training aimed to facilitate the recognition of monogenic diabetes, boost the number of referrals for genetic testing, and, in the event of a positive genetic diagnosis, ensure that patients received appropriate treatment. Additionally, the network aimed to facilitate genetic testing access for other family members with diabetes.

Since the start of the Genetic Diabetes Nurses network in 2002, the number of referrals for genetic testing has consistently risen, resulting in approximately 4,500 confirmed cases of monogenic diabetes in the UK. In recent years, I expanded this training model in collaboration with NHS England by offering free virtual training to healthcare professionals throughout England. Since 2021, an additional 1,054 staff members have received this training. Notably, this effort has led to 95% of hospitals in England that provide diabetes services having a designated and well-trained individual responsible for monogenic diabetes cases.

Winning the Aster Guardian Global Nursing Award in 2023 is a significant achievement. How has this recognition empowered you to further your work in the field of monogenic diabetes and genetic testing?

Winning the Aster Guardian Global Nursing Award 2023 has granted me an incredible platform to generate global awareness about monogenic diabetes. Through the award’s associated publicity, I’ve had the privilege to share details of the diabetesgenes.org website extensively. This platform offers comprehensive information on monogenic diabetes, genetic testing, and offers free training resources for healthcare professionals. I have also donated a significant amount of the INR 2 crore Aster Guardian Global Nursing Award prize fund to enable free testing for patients with neonatal diabetes from underserved countries who cannot afford the tests otherwise. Moreover, it has opened doors for me to deliver informative presentations to various audiences about monogenic diabetes. Additionally, it has facilitated valuable networking opportunities with inspiring nurses from around the world who can further disseminate this crucial information to individuals involved in diabetes care.

Can you share more details about the initiative you’ve undertaken to provide free genetic testing services to underserved populations in different countries? How do you plan to make this accessible to those who need it most? In your experience, what are some of the most common challenges in diagnosing and managing monogenic diabetes? What steps do you believe are necessary to overcome these challenges?

The Royal Devon University Healthcare NHS Foundation Trust offers free genetic testing for individuals who were diagnosed with diabetes before the age of 6 months, regardless of their current age, for those who would otherwise be unable to afford it. The prize fund I received from winning Aster Guardians Global Nursing Award has further provided a boost to the work I am doing in genetic testing as with these funds, I have been able to extend our capabilities to provide free genetic testing to underprivileged patients. This service is extended to countries and individuals who may otherwise face financial constraints when seeking testing. The rationale behind this initiative is to ensure accurate diagnoses, particularly for those with neonatal diabetes. Approximately 50 per cent of neonatal diabetes cases respond better to treatment with specific tablets as opposed to insulin. This not only significantly enhances the quality of life for affected individuals but also reduces long-term healthcare costs.

Notably, approximately 80 per cent of those with monogenic diabetes are initially misdiagnosed, often being classified as either Type 1 or Type 2 diabetes due to their young age at diagnosis. Increasing awareness and recognising the distinctive features of monogenic diabetes are essential steps in ensuring that patients receive genetic testing and obtain the correct diagnosis and subsequent treatment and care.

Your journey from being a Diabetes Specialist Nurse to a Professor and leader in the field is inspirational. What advice do you have for healthcare professionals who aspire to combine clinical practice with research and innovation in their careers?

My passion for my field of work and my strong desire to enhance patient care have been the driving forces behind my career. Understanding a patient’s perspectives, asking questions, developing practical solutions and always looking for opportunities have been key. I have maintained a commitment to ongoing learning and the continuous development of my skills and knowledge. This has been essential as I’ve simultaneously upheld a clinical role, ensuring that my focus remains on implementing changes that benefit patients. I wholeheartedly encourage others to follow a similar path.

Balancing clinical practice with research and innovation isn’t always straightforward, but with the support of experienced colleagues and successful funding applications for research and educational initiatives, it has become a reality. This support has been instrumental in enabling me to bridge the worlds of patient care and groundbreaking research, ultimately contributing to the betterment of healthcare practices.





diabetes preventionMonogenic diabetesWorld Diabetes Day 2023
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