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Welcome from Vicky, Annette and Jo | |
Welcome to the May 2023 edition of the East Genomic Medical Service Alliance (GMSA) Nursing and Midwifery Genomics Newsletter. Monogenic Diabetes will be our focus in this edition. Please share this newsletter with your colleagues and, if you haven't already, sign up to receive this newsletter here.
This month we are delighted to announce the appointment of Joanne Hargrave as Lead Midwife for the East Genomic Medicine Service Alliance.
Joanne is a midwife with over 17 years of experience mainly working in Trusts within the East of England and South London. For the past 6 years, she has been working as a specialist midwife supporting the implementation and embedding of Non-invasive prenatal testing (NIPT) services for Trusts within South West England. You can read more about Jo on our website here. | |
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Vicky Carr East GMSA Nurse Lead
Cambridge University Hospitals | | Annette Breen East GMSA Nurse Lead Nottingham University Hospitals | | Joanne Hargrave East GMSA Midwife Lead Norfolk and Norwich University Hopsitals | | | |
Monogenic Diabetes (MD) or Maturity Onset Diabetes of the Young (MODY) | |
Monogenic diabetes is also known as Maturity Onset Diabetes of the Young (MODY). A rare form of diabetes caused by a gene alteration, it's main features are:
- Diagnosed under the age of 25 years
- Family history of diabetes; a parent and possibly a grandparent.
- Does not always need insulin treatment. The patient may be on insulin but has a measurable c peptide >5 years after diabetes
It is an autosomal dominant condition, which means that one copy of an altered gene is needed for the condition to be present so the affected parent has a 50% chance of passing on the altered gene to their children. | |
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(Health Education England / Genomics Education Programme e-LfH) | | |
Many genes have been identified as causing different types of monogenic diabetes. Identifying the genetic cause can lead to specific treatment and optimal management. Diagnosing monogenic diabetes requires a multi-facetted approach, which combines clinical information with biomarkers, supported by tools such as the MODY probability calculator to help identify patients who may need genetic testing. There are many different types of monogenic diabetes and identifying these genes has an important impact on people’s lives and the treatment they receive. There are also some other rare, complicated types of inherited diabetes, such as maternally inherited diabetes and deafness (MIDD). This is caused by an alteration in the mitochondrial DNA. Our entire mitochondrial DNA is inherited from our mothers, which means that all the children of a woman with MIDD will inherit the condition, but there is a lot of variation in how they are affected by it. Men and boys who have MIDD will not pass the condition to their children, but all women who have MIDD will pass the condition to their children.
How common is monogenic diabetes? Monogenic diabetes affects up to 3% of those with diabetes; however approximately 80% of these patients are yet to be identified. It is often misdiagnosed as type 1 or type 2 diabetes, and on average takes up to 12 years to be diagnosed.
Why is it important to find out if someone has monogenic diabetes? This is to make sure that they get the right treatment for their diabetes. In some of the more common types of monogenic diabetes, patients can stop insulin and be treated with oral medications; specifically sulphonylureas. This is not the case for all types of monogenetic diabetes; some types are linked with clinical features outside of diabetes and some types with syndromic features. A monogenic diabetes diagnosis affects patients’ families too. For example, it is important during pregnancy to inform care and treatment pathways for a woman with monogenic diabetes and her baby as, for example, hypoglycaemia of the newborn is a feature of one of the monogenic types.
How do people find out they have monogenic diabetes? - Clinical presentation and family history
- Testing for islet autoantibodies: GAD, IA-2, IA2, ZnT8
- C-peptide level
- MODY probability calculator score
- Genetic testing
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| Anita is a Diabetes Specialist Nurse working in the community seeing patients who need more specialist intervention for their diabetes management due to complex needs. She is also seconded as the Genetic Diabetes Nurse (GDN) for East Anglia by the Royal Devon and Exeter University Hospital NHS Trust. In her regional role, Anita provides expert advice about monogenic diabetes for healthcare professionals. | | | |
How did you become a Monogenic Diabetes Specialist Nurse?
About 12 years ago, I attended a national presentation by Professor Maggie Shepherd on monogenic diabetes. It was the first time I had heard of this type of diabetes even though I was a Diabetes Specialist Nurse, so all the information was new to me. Professor Shepherd wanted to recruit more diabetes specialist nurses across the UK into Genetic Diabetes Nurse roles. The aim of this role was to increase clinicians’ knowledge about monogenic diabetes so that they could identify patients in their clinics misdiagnosed with type 1 or type 2 diabetes and improve their treatment. I applied for the role and started my secondment with the Royal Devon and Exeter University Hospital NHS Trust.
In this role I have attended regular updates run by the Exeter team and completed a genomic counselling module which has improved my skills in discussing monogenic diabetes with patients and their families. I have been fortunate enough to be asked to present at national and regional meetings. I set up our first monogenic diabetes specialist clinic in Norfolk and have supported many other clinicians to identify patients with monogenic diabetes and make treatment changes. I am so proud to work with the team at Exeter, led by Professor Andrew Hattersley, as they are world renowned for their pioneering work in monogenic diabetes.
What is the most rewarding thing about your job? Definitely getting the right diagnosis for a patient so they can have the right treatment. I have seen so many families over the years; and each one has their own story. If a patient who has one of the gene alterations that means they can stop insulin, it can be life-changing. They will require a lot of support going through this process.
What is the most challenging thing about your job? Managing the expectations of families, people react very differently to genetic test results and it is important to understand this particularly when children are involved. Sometimes the gene identified may have other syndromic features outside of diabetes; maternally inherited diabetes and deafness can have quite serious consequences for some people, but not for others even in the same family. This makes it difficult to assess what the impact will be. It can be difficult to give answers to all the questions that families may have, and for me, learning to manage these expectations has come with experience in this role.
Find out more: | |
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Genomic BITEs: Lunch and learn sessions for busy nurses and midwives | |
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Our next Genomics BITE session will focus on Monogenic Diabetes and take place on Tuesday 23 May, 12.45pm - 1.30pm via MS Teams. You can register your free place here.
Our previous Nursing and Midwifery Genomics BITE sessions are now available to watch on our YouTube channel: | |
Meet the East GMSA Nursing and Midwifery Team | |
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Education, Training and Resources | |
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Generation Genome: The Vital Role of Nurses and Midwives in Transforming CareCavendish Conference Centre, London W1G 9DT | 19 May 2023 This North Thames GMSA event will showcase innovative projects that have demonstrated the transformative role of nurses and midwives in mainstreaming genomic tests thereby improving equity of access and holistic care.
This face-to-face educational and networking event is open to registered and student nurses, midwives of all experience and background. Allied healthcare professionals are welcome to attend (i.e. genetic counsellors, physician associates, etc). Find out more and register your place here. | |
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