Genetic test that spots rare ‘hidden’ diabetes

It could spare thousands from wrong treatment

A TEST being rolled out on the NHS could provide a breakthrough for thousands of sufferers of a rare and hard-to-spot type of diabetes.

Monogenic diabetes is often mistaken for the type 1 or type 2 forms.

It means many patients are given the wrong treatment, being prescribed insulin when they might be better off changing their diet or taking tablets.

With the disease typically affecting the young, some could miss out on the treatment they need for years.

Now, the NHS is training staff to identify those who may need genetic testing for monogenic diabetes. This could give them the right diagnosis, helping them to properly control blood sugar to avoid complications such as blindness, heart attacks or amputations later in life.

Although monogenic diabetes appears very similar to type 1 and type 2, there are clues which can help decide whether a patient needs a genetic blood test.

Typically, sufferers are diagnosed between the ages of ten and 30, are slim, do not require insulin, and have a family history of the disease. In the type 1 form, the body cannot make insulin – a hormone which regulates blood sugar – while type 2 sufferers cannot make enough insulin or the hormone doesn’t work properly.

In monogenic diabetes, changes in a single gene result in the body not producing enough insulin. But unlike in type 1 diabetes, some insulin is produced by those with monogenic diabetes. Insulin injections can help but unlike in type 1, it is possible to use other treatments such as tablets which often work better. There are estimated to be 12,000 undiagnosed patients with monogenic diabetes in England, as well as the 4,000 already diagnosed.

With around 170 new diagnoses each year, the form of the disease accounts for one in 50 diabetes cases.

Jen Gerrard, 46, from Wigan, was wrongly found to have type 1 diabetes when she was three

‘Significant development’

months old and had been taking insulin, injecting herself four times a day, for 40 years.

Her consultant attended a talk on monogenic diabetes, suspected she could be a candidate for it and within a week of being referred for a genetic test, she found out she had it. The mother-of-one said her diagnosis means her symptoms have ‘dramatically improved’.

Children with a parent who has the disease have a 50 per cent chance of also developing it. It can be diagnosed in babies during their first six months.

Up to 280 NHS staff will receive training over the next year on how to identify monogenic diabetes patients.

Dan Howarth, head of care at Diabetes UK, said: ‘The rollout of this programme is a significant and hugely positive development.’