Spotting families with genetic diabetes can transform their care

Most people have heard of type-1 and type-2 diabetes, but there are other, rarer, forms of the condition caused by a change in a single gene, known as monogenic diabetes, which affects about 3.5% of those diagnosed with the condition.

Identifying patients with monogenic diabetes, and confirming this by genetic testing, can lead to changes in their treatment that can help transform their lives – even when the genetic diagnosis is made years after the original diabetes diagnosis.

The Trust’s genetic diabetes specialist nurse, Bev Summerhayes, said:

“The Trust now runs a monogenic diabetes service at the Lister, New QEII and Hertford County hospitals, and is one of only eight NHS trusts in the country to do so. Since Autumn 2015, samples from 42 patients have been tested, resulting in 21 people being identified as having monogenic diabetes. As a result, their treatments have been changed, often moving from insulin injections to oral tablets. Confirming the correct genetic diagnosis and subsequent treatment change has improved quality of life considerably for these people and their families.”

Approximately 3.5% of patients diagnosed with diabetes below the age of 30 years have monogenic diabetes (caused by a change in a single gene). In many cases, this means they can be treated with tablets rather than insulin injections.

The majority of individuals with monogenic diabetes tend to be misdiagnosed initially as having either type 1 or type 2 diabetes and consequently may not have their condition managed appropriately. Awareness of the key features of genetic forms of diabetes is important in identifying those patients whose type of diabetes might be questioned and who may benefit from genetic testing.

Patients who developed diabetes in the first six months of life should be offered genetic testing, whatever their age now. Individuals who were diagnosed below the age of 25 years and have an affected parent or child should also be assessed to identify those where genetic testing may be appropriate. By ensuring patients with diabetes meet the criteria for genetic testing the Trust’s success rate of positive cases identified (50% of those referred for genetic testing) is well above the national average (24%).

As part of Bev Summerhayes’ genetic diabetes nurse role, she is very happy to discuss possible patients and give presentations about monogenic diabetes to raise awareness of these conditions to primary and secondary healthcare professionals involved in diabetes care across Hertfordshire and Bedfordshire. Referrals to the monogenic diabetes service initially should be directed to the lead consultants: Dr Peter Winocour; Dr Stella George; or Dr Sagen Zac-Varghese.