A new study suggests that a genetic risk score may help identify adults at high risk of developing type 1 diabetes, potentially guiding early screening and access to preventive therapies. The research, led by the University of Exeter, used a genetic risk score to predict an individual's likelihood of developing type 1 diabetes.
The test analyzes genetic data to estimate risk and can be integrated into an online clinical calculator previously developed by the Exeter team. This tool allows clinicians to input information such as age, family history, blood test results, and the genetic risk score to assess a child's risk of developing the disease.
Type 1 diabetes occurs when the immune system attacks insulin-producing cells in the pancreas. While its exact causes are still being studied, genetics are known to play a role. Early identification is important because drugs like teplizumab—recently licensed in the US and UK—can delay the onset of symptoms and reduce reliance on insulin for up to three years if administered before symptoms appear. Teplizumab is not yet available through the NHS and is currently under review by NICE.
The earliest phase of type 1 diabetes can be detected with a blood test for autoantibodies. The new research indicates that using a genetic risk score could help determine who should undergo this further testing.
In their latest work, published as a research letter in The Lancet Diabetes and Endocrinology, researchers applied the genetic risk score to participants in the Exeter 10,000 cohort from the NIHR Exeter Clinical Research Facility. They found that individuals in the top ten percent of scores had an eightfold increased chance of being in early stages of type 1 diabetes.
Professor Richard Oram from the University of Exeter stated: "Now that new drugs are available that can delay the onset of diabetes, we urgently need to be able identify who is at high risk of developing the condition, particularly as the drug is only approved before symptoms occur. Our research shows us that we could use this score in large population studies such as Our Future Health to identify who is at the highest risk and offer them autoantibody testing, as an efficient way of identifying adults with early-stage type 1 diabetes who may be eligible for treatment."
The study was supported by several organizations including the National Institute for Health and Care Research (NIHR) Exeter Biomedical Research Centre, NIHR Exeter Clinical Research Facility, Diabetes UK, Breakthrough T1D, and Randox.
Dr. Lucy Chambers from Diabetes UK commented: "Type 1 diabetes is a serious condition that, in the early stages, can develop silently for months or years before symptoms suddenly appear. This symptomless window is a vital opportunity to intervene.
"This new genetic risk calculator could act as an early radar, helping clinicians identify people who should be offered a simple autoantibody blood test that can spot early-stage type 1 diabetes. This could help unleash the benefits of immunotherapies that can hold off the condition and potentially postpone the need for insulin for years.
"Innovations like this are key to building effective type 1 diabetes screening pathways, giving us the best chance of getting people the support and treatment they need as early as possible."
Dr. Esther Latres from Breakthrough T1D added: "Breakthrough T1D is committed to advancing research that will help us understand what causes type 1 diabetes and the autoimmune progression. Identifying individuals at elevated genetic risk in early stages of the disease, as determined by the presence of autoantibodies, will allow for the monitoring of disease progression, access to approved therapies, the opportunity to participate in clinical trials, and the reduced risk of complications at the time of a clinical diagnosis."
Two ongoing trials—the ELSA study for children and T1DRA study for adults—are currently open for recruitment for those interested in learning more about their own risks related to type 1 diabetes.
The research letter titled 'Genetic risk targeted Islet-autoantibody screening for presymptomatic type 1 diabetes in adults' appears in The Lancet Diabetes and Endocrinology's Correspondence section.
