A new initiative from NHS England aims to detect the rare genetic form of diabetes in thousands of people, and train healthcare staff to be experts in managing the condition

Lab test

A new genetic test to detect a rare form of diabetes is being rolled out by NHS England.

The aim of the testing service is to detect monogenic diabetes in thousands of people who may be unaware that they have it. The test can also detect whether children have inherited the affected gene and will go on to develop monogenic diabetes, typically before the age of 30.

The health service is also training hundreds of staff across the country to be experts in the rare condition. Monogenic diabetes makes up one in 50 cases of diabetes, but it is difficult to diagnose or distinguish from the more common types—type 1 or type 2 diabetes.

‘We are already making progress against the goals set out in the NHS Long Term Plan for better diabetes care, and the rollout of this programme will mean more patients across the country will benefit from access to specialist genetic testing and optimised treatment,’ commented Professor Partha Kar, NHS National Speciality Advisor for Diabetes.

Monogenic diabetes is difficult to diagnose, and we will more easily be able to identify those who need to be referred for genetic testing by training teams on monogenic diabetes in each trust.

‘The NHS has long been at the forefront of clinical advances in care for major diseases like diabetes—being able to spot the condition from birth is just another example of how we are helping people with the condition to live longer and healthier lives.’

NHS trusts in England will be supported to put in place a team of monogenic diabetes experts to support patients—with up to 280 staff to be trained over the next year.

The new project, run in partnership between the NHS England Diabetes Programme and the NHS Genomic Medicine Service, will provide remote training to support teams in hospital trusts to improve diagnosis and identify people who may have the condition.

Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics in the NHS, said: ‘I’m delighted we’re rolling out this initiative, which will no doubt be welcomed by the thousands of patients who’ll benefit from being able to access genetic testing for monogenic diabetes and the personalised treatment interventions.

‘The NHS continues to lead the way in using the latest genomic technology and this is a great example of how genomics can help diagnose, inform treatments, and deliver improved outcomes for patients. And it shows how the NHS is delivering on the commitments set out in the NHS Long Term Plan to increase access to genomic testing.’

Monogenic diabetes

Monogenic diabetes is caused by a mutation in a single gene that is passed on from an affected parent to their child. Each child has a 50% chance of inheriting the affected gene, and therefore developing diabetes. Although people who have type 1 or 2 diabetes may be genetically predisposed to developing it, the inheritance pattern is less clear and other factors can also be influential.

Around 12,000 people in England are thought to have monogenic diabetes, with an estimated prevalence of eight confirmed cases per 100,000 population. With more than 170 cases of monogenic diabetes diagnosed each year, these account for 1–2% of all diabetes diagnoses, and 3.6% of those diagnosed with diabetes under the age of 30 years.

Left undetected, people with monogenic diabetes can struggle to manage glucose levels. Most patients diagnosed under the new initiative will be able to manage their condition better by taking medication or by adjusting their diet to control their glucose levels, instead of having to endure often unnecessary and time-consuming insulin injections.

The programme will ensure training and support for a designated nursing and medical lead in each trust, with a national virtual training package developed by an expert monogenic diabetes team at the Royal Devon and Exeter NHS Foundation Trust, and practical support provided by 15 specialist genetic diabetes nurses.

The Royal Devon and Exeter NHS Foundation Trust is part of the NHS South West Genomic Medicine Service Alliance, one of seven regional NHS Genomic Medicine Service Alliances launched in the last year to transform how genomics is used in mainstream healthcare to improve outcomes for patients.