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 (GDN) role is an initiative using experienced diabetes specialist nurses to help integrate genetic findings into diabetes care.
Our role is to increase knowledge about monogenic diabetes, where a patient’s diabetes is caused by a change in a single gene. Monogenic diabetes includes both neonatal diabetes and MODY: maturity onset diabetes of the young.
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, up to 80% of these patients are initially misdiagnosed as having type 1 or type 2 diabetes which can result in unnecessary insulin treatment and inappropriate clinical care. By increasing awareness amongst healthcare professionals about monogenic diabetes, the GDN can assist in identifying patients who may benefit from genetic testing and ensure follow up of family members as appropriate.
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 monogenic clinic, we see people who are referred to us to try to establish if they have monogenic diabetes. This involves an in-depth consultation, and a family history is taken.
An autosomal dominant inheritance of diabetes in 2 or 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.
After many years of being a GDN, I have developed skills that allow me to recognise different characteristics and clinical features in order to decide whether 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 can 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, (for example, HNF1A and HNF4A MODY and KCNJ11 neonatal diabetes). Many patients have been able to come off insulin therapy and transfer to sulphonylureas with support of their local GDN.
Patients with monogenic diabetes who can stop insulin and transfer to sulphonylureas need significant support during the period of transition. Many have been misdiagnosed with type 1 diabetes and may have been told they needed insulin injections 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, such as islet autoantibodies or c-peptide, can also help to ensure 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 supported in undertaking further education. Several years ago I completed a Master’s-level module in genomic counselling, funded by Health Education England, which has proved invaluable in both my work with monogenic diabetes and in my role as a diabetes specialist nurse.
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, and 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 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 and Professor Andrew Hattersley.
A significant part of my role as a genetic diabetes nurse has always been to raise awareness of monogenic diabetes amongst health professionals. Recently there have been changes to the way we perform our role.
The NHS Diabetes Programme is now expanding its remit to include monogenic diabetes, working with the NHS Genomic Medicine Service Alliances. A one-year project has been established to support the improved identification and treatment of monogenic diabetes by utilising the GDN role. GDNs are contacting trusts within their allocated areas to identify a consultant and a diabetes specialist nurse in each trust. These professionals will then undergo training in monogenic diabetes with the aim of increasing referrals for testing with the support of their allocated GDN.
The integration of genomics into mainstream NHS patient pathways will bring new benefits to patients and their families. By establishing a lead clinician and nurse in each NHS trust to reduce the unwanted variation of diagnosis of monogenic diabetes, we can help ensure parity of care and treatment for all people with this condition.
Anita Murphy is the diabetes team lead for Norfolk Community Health and Care NHS Trust and regional Genetic Diabetes Nurse for Norfolk, parts of East Anglia and the North East of England.
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