As part of our #GenomicsConversation week, Anita Murphy talks about how a patient’s genetic information can transform their diabetes care
The genetic diabetes nurse role is an initiative using experienced diabetes specialist nurses to help integrate genetics findings into diabetes care.
Turning 1/10 into 10/10
Monogenic diabetes accounts for 3.6% of those diagnosed with diabetes under the age of 30 years (Sheilds et al 2017). Owing to a lack of familiarity with monogenic diabetes, however, 90% of these patients are initially misdiagnosed as having type 1 or type 2 diabetes, and are given inappropriate treatment and advice.
By increasing awareness among healthcare professionals of monogenic diabetes, our GDNs assist in identifying patients who may benefit from genetic testing to ensure the correct diagnosis, treatment and family follow-up.
A big part of my role as a genetic diabetes nurse is to raise awareness of monogenic diabetes among health professionals, and I regularly give presentations to clinical teams locally, regionally and at national meetings.
I also run a monogenic clinic that is held every two months at a local hospital. I see patients along with a consultant who specialises in diabetes and endocrinology, with an interest in monogenic diabetes. We meet with patients who have a confirmed molecular genetic diagnosis of monogenic diabetes, review their medications, and ensure they have good glycaemic control in order to prevent potential complications of the condition.
I also follow up with patients’ family members. Monogenic diabetes follows an autosomal dominant inheritance pattern, which means that each child born of a parent who has monogenic diabetes has a 50% chance of inheriting this genetic change and developing diabetes themselves. Frequently, patients will have family members who also have diabetes, and they will require review and may need genetic testing themselves.
In the clinic we also see people who are referred to us to establish whether or not they have monogenic diabetes. This involves an in-depth consultation, and a family history is taken.
An autosomal dominant inheritance of diabetes in 2-3 generations is a good indicator that the patient may have a type of monogenic diabetes, in combination with a young age of diagnosis (usually under the age of 25 years) in at least one family member. Further discussions with the patient about other complications they may have, such as bilateral sensorineural deafness or renal cysts, can also help ascertain which gene may be causing the diabetes.
The genetic diabetes nurse role is like being a detective – being able to recognise different characteristics and clinical features in order to decide whether or not a monogenic cause of diabetes is likely. Often the patients we see have had diabetes for a number of years, and many times I have had patients comment that they have always felt their diabetes was different.
If we identify a specific genetic change, then we can recommend the most appropriate treatment. For example, some types of monogenic diabetes are extremely sensitive to sulphonylureas. This oral medication works more effectively than insulin in patients with some forms of monogenic diabetes, and many patients have been able to come off insulin therapy and transfer to very small doses of sulphonylureas with support of their local GDN.
Patients with monogenic diabetes who are able to stop insulin and transfer to sulphonylureas need a lot of support during the period of transition. Many have been misdiagnosed with type 1 diabetes and may have been told they needed insulin to survive. Initiating this transition is life-changing for the individual, and for GDNs involved in confirming the correct genetic diagnosis and treatment change, it’s extremely rewarding to be able to make such a positive impact on the patient’s quality of life.
Involving a genetic diabetes nurse prior to genetic testing can help ensure that the most appropriate patients are referred. As well as considering the patient’s family history, we can also suggest the use of tools such as the MODY probability calculator, which calculates the patient’s likelihood of having monogenic diabetes based on key information. The use of other biochemical tests prior to genetic screening can also assist in ensuring that patients are not unnecessarily sent for genetic testing, and the genetic diabetes nurse can advise which tests may be most useful.
Learning and sharing
As part of my role, I attend several study days a year held by the world-leading monogenic diabetes team at the Royal Devon & Exeter NHS Foundation Trust. This provides an opportunity to meet up with fellow genetic diabetes nurses, have discussions and share case studies. We have lectures from clinicians and scientists to keep us informed of the latest information regarding monogenic diabetes, and receive feedback from our genetic nurse lead Professor Maggie Shepherd about our role and future planning.
We also have opportunities to undertake further studies to enhance our work. The genetic diabetes nurse role is funded by Health Education England, which supports us in undertaking further education. Last year, I completed a Master’s-level module in genomic counselling, which has proved invaluable in both my work with monogenic diabetes and in my diabetes specialist nurse role also.
Making a difference
The genetic diabetes nurse role is complex and multifaceted, and varies on a daily basis. The ability to blend specialist knowledge of monogenetic diabetes into clinical care is hugely rewarding: being able to present this information in a way that translates into the clinical setting makes a real difference to both patients and clinicians.
There are currently more than 20 GDNs located across the UK – see the Diabetes Genes website for more information. We work closely with the patient’s clinicians and utilise the support of our local clinical genetics services. When we require more information about complex cases, we liaise directly with our clinical leads, Professor Maggie Shepherd, Professor Andrew Hattersley and Professor Sian Ellard.
The integration of genomics into mainstream NHS patient pathways will bring new benefits to patients and their families. I look forward to continuing to develop my genetic diabetes nurse role in the future as our understanding of genomics continues to progress.
Anita Murphy is a diabetes specialist nurse and genetic diabetes nurse for Norfolk and surrounding areas
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