New UK-developed test can help predict who will develop type 1 diabetes and unlock treatment

  • March 8th 2024

A new test that uses genetics to help predict who is at high risk of developing type 1 diabetes is now publicly available for the first time, following research that aims to help people across the globe access new drugs that can modify the disease.

The test could help develop new screening programmes for type 1 diabetes, as new drugs emerge which must be prescribed at early stages to be effective. The new test will also help determine type 1 from type 2 diabetes, further improving clinical decision making and treatment.

The test, developed by UK diagnostics company Randox using research from the University of Exeter, could help introduce public health screening in the UK and across the world, supporting those with a high genetic risk of developing type 1 diabetes. Now, the test has received UK regulatory approval – the first such approval issued globally. This means it will be available to consumers in the UK, through Randox Health clinics, and can be ordered online for sample collection at home and returned to Randox’s laboratories for testing.

Type 1 diabetes has a significant inherited risk. The new test is conducted on a Randox biochip which can simultaneously identify up to 10 genetic variants linked to risk for type 1 diabetes.  An algorithm is then applied to assess the risk associated with the identified variants for each individual, to calculate a genetic risk score.  Previous trials have shown that genetic risk scores are particularly effective in predicting risk for type 1 diabetes.  This score will help identify people who don’t have diabetes but are at high risk of developing the disease in the future and can be referred for autoantibody testing to give a definitive diagnosis. The Randox biochip can also be used after diagnosis, to help identify what type of diabetes a person has, which is crucial to ensuring they get the best possible treatment and care.

Identifying those at high risk is particularly topical, as new drugs emerge that can reduce the impact of type 1 diabetes – and they can only be given at the earliest stages, before a clinical diagnosis is given. In November 2022, the US Food and Drug Administration (FDA) approved the use of teplizumab – the first disease-modifying treatment for type 1 diabetes. It can only be prescribed pre diagnosis, yet there is currently no screening programme anywhere in the world to identify early pre-clinical type 1 diabetes. The drug is not yet approved for use in the UK, however, health services globally are now considering how best to introduce public health screening programmes.

Exeter BRC diabetes researcher Professor Richard Oram developed the genetic risk score based on a decade of research, and has worked with Randox on developing the new biochip. He said: “The world is waking up to the value of screening programmes for type 1 diabetes because of new drugs which must be given at the earliest stages of disease. Our new biochip is a pioneering  example of how understanding a person’s background genetic risk can help identify those at highest risk, ensuring they have further antibody screening so we can efficiently identify type 1 diabetes early enough for treatment to be effective. The Randox biochip could aid in speeding up decisions around who should be monitored and tested further, making public health screening cost effective and improving lives by increasing access to treatment.”

Type 1 diabetes affects more than eight million people worldwide, and numbers are projected to rise significantly. The disease causes the body’s own immune system to attack the beta cells which regulate blood sugar. Although the disease is primarily caused by genetics, only around one in ten people with type 1 diabetes have a family member affected, making the other nine in ten difficult to identify. Currently, they are often referred for autoantibody tests when symptoms start to show – but that can be too late to mean they are eligible for treatment.

The new fingernail-sized biochip works by applying DNA extracted from a patient’s blood sample to the biochip surface, upon which copies of the high-risk type 1 diabetes genetic variants are fixed.  If a match occurs, the patient’s DNA will bind to the fixed risk variants and emit light.  The pattern of positive genetic variants indicates genetic risk and an algorithm is then applied, factoring the significance of each gene variant. The higher the genetic score, the greater the risk that the individual will develop the disease. Those at high risk can then be monitored and put forward for autoantibody screening, while those at low risk need not be screened, which saves money.

Dr Lucy Chambers, Head of Research Communications at Diabetes UK, said: “We’re delighted to see that research supported by Diabetes UK has informed the development of an innovative new tool to find people at high risk of type 1 diabetes. New treatments to prevent or delay type 1 are on the horizon, and their success hinges on establishing effective screening methods to pinpoint those at higher risk. We are continuing to fund research into type 1 screening and are pleased to see new innovations that have the potential to improve lives.”

Hilary Nathan, Director of Policy and Communications at JDRF UK: “For too long, type 1 diabetes has lain silent and undetected to subsequently devastate lives and cause chaos from the first days of diagnosis. This new biochip from Randox and the University of Exeter is exciting, as the test could provide a new way to predict who is at risk from developing type 1. This knowledge then unlocks the opportunity to provide education and intervene at the earliest stages, enabling us to reduce the number of people being diagnosed with diabetic ketoacidosis, which can have traumatic and potentially fatal consequences. We are also on the cusp of a wave of transformative treatments, which can delay the onset of type 1, offering people invaluable years of life free from its burdens.”

Dr Peter FitzGerald MD of Randox said: “We’re delighted to have worked with the University of Exeter on this project to provide a screening tool to assess the genetic risk of type 1 diabetes which, aligned with autoantibody testing, can greatly improve diagnosis, patient care and access to therapeutics.  As a result of our regulatory UKCA approval we will, as a world first, be providing this test through our Randox Health clinics, including within certain John Lewis stores, to private individuals in the UK from7th March. We are also releasing the test via a home-based sample self-collection kit.  This test is a game-changer in the diagnosis and treatment of type 1 diabetes and we look forward to deploying the test to support public and private healthcare providers globally.“

“I felt like I was going to die” – Type 1 diabetes diagnosis shock for Devon alpaca farmer

For Rachel Hebditch, the first sign that she had type 1 diabetes was friends commenting on how “shockingly thin” she’d become.

Rachel, a former national journalist turned alpaca farmer, based near Tiverton in Devon, decided to visit her GP after comments about her stark weight loss in 2009, aged 59.

“In hindsight, I was thirsty a lot of the time, but I don’t remember feeling particularly terrible at that point,” said Rachel, now 74. “The doctor initially though it was cancer, but by the time0 I got home, I had a message to go to the diabetes centre in Exeter. It was a total shock to be diagnosed with type 1. It wasn’t on my radar at all, and it immediately changed everything. I lost confidence in my body to behave as it should.”

Rachel spent years trying to get the right treatment, eventually investing in a device that continuously monitors blood glucose, so she knew when to top up her insulin. “Now, I’m happy with my diabetes management – but for a while I used to get hypos caused by low blood sugar levels. It was horrific – I felt like I was going to die. I still get them occasionally, but I now get an early warning from my monitor, which helps my avoid that ghastly feeling that death is imminent.”

Rachel welcomed the University of Exeter’s research which has fed into Randox’s new test, which measures peoples’ genetics to identify those at high risk of developing type 1 diabetes in future, so they can be filtered for further testing. “Anything that can catch people early is definitely a positive development,” she said. “That must be the first step if we’re one day going to be able to access treatment that can slow or stop the onset of type 1 diabetes.”

Rachel’s son, Alex Allen, 43, now plans to buy the test for himself and his two young children. The healthcare researcher said: “I’m delighted that this test is now available to order. Now we know that we have type 1 diabetes in our family, I want to know if my children and I are at high risk, so we can act on any early signs quickly if so. It will us ensure we’re armed with the most accurate information.”

Shock diabetes diagnosis for Cornish schoolgirl

When nine-year-old Charlotte Ashton first began to feel ill, she thought it was a sickness bug she had caught from her brother. Alarm bells only rang for her family when her nausea lasted several days, accompanied by severe hunger and thirst, and she began to lose weight fast.

Charlotte’s symptoms developed over an Easter bank holiday weekend, meaning a delay before she could see a GP. Her mother,  Lucy Banfield, recalled: “By that point she’d really deteriorated – she was very ill, and looking quite frail. She’d lost so much weight.”

The GP immediately referred Charlotte to Truro hospital, where blood tests revealed that she was not producing enough insulin to control her blood sugar, meaning her levels were sky high. Charlotte was in a state of ketoacidosis – a risk of type 1 diabetes when blood sugar soars too high, which can be life-threatening. She spent a night in a high dependency unit as medics fought to stabilise her blood sugar levels.

Now, with a diagnosis of type 1 diabetes and an insulin pump linked to a phone app, Charlotte is a lively and articulate teenager who lives a normal life.

Charlotte, now 15 and living in Falmouth, said: “It was all quite strange at the time – I was really tired, and I couldn’t stop drinking water. Being in hospital was quite scary – I didn’t really understand the diagnosis. I’d never heard of type 1 diabetes, but I could tell from my parents’ reaction that it wasn’t good news.

“At first I didn’t really want to engage with it – I hated the insulin injections. My parents had to bribe me to start to do it myself, but now I’m used to it, and it’s not so bad. It doesn’t have much impact on my life now.”

Ms Banfield said: “I’m a radiographer and looking back, I feel we should have seen the signs earlier. But there’s no type 1 diabetes in the family – it just wasn’t on the radar for us. It was a really scary time.”

Charlotte and her mother welcomed the launch of a new test that uses genetics to help predict who is at high risk of developing type 1 diabetes. The test is conducted on a biochip produced by UK health diagnostics company Randox, based on University of Exeter research. The test can simultaneously identify up to 10 genetic variants linked to risk for type 1 diabetes, swiftly identifying who is at high risk and should be prioritised for further testing.

Ms Banfield said: “There was a time when I really feared for Charlotte’s life. Anything that can help give an early warning sign would be so welcome. People need to know their risk so they can get the right help and treatment as soon as possible.”