A groundbreaking blood test from UEA can diagnose ME/CFS with 96% accuracy, offering hope for patients and new insights into chronic fatigue syndrome
Researchers at the University of East Anglia (UEA) have unveiled a revolutionary blood test that can diagnose Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) with 96% accuracy. Using advanced 3D genomic technology, the test identifies unique DNA folding patterns associated with the disease, providing a long-sought diagnostic tool and a potential model for testing long COVID.
Highly accurate blood test for ME/CFS
ME/CFS (Myalgic Encephalomyelitis/Chronic Fatigue Syndrome) is a serious, long-term condition characterised by severe fatigue that is not relieved by rest. Symptoms often include post-exertional malaise (worsening after activity), cognitive difficulties (brain fog), sleep disturbances, pain, and dizziness. It affects multiple body systems, and its cause isn’t fully understood, making diagnosis challenging.
In a breakthrough, scientists have developed a highly accurate blood test to diagnose chronic fatigue syndrome, also known as Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). The test has 96% accuracy and will offer new hope to those living with the condition, which is often misunderstood.
Lead researcher Prof Dmitry Pshezhetskiy, from UEA’s Norwich Medical School, said: “ME/CFS is a serious and often disabling illness characterised by extreme fatigue that is not relieved by rest. We know that some patients report being ignored or even told that their illness is ‘all in their head’. With no definitive tests, many patients have gone undiagnosed or misdiagnosed for years. We wanted to develop a blood test to diagnose the condition – and we did!
“Our discovery offers the potential for a simple, accurate blood test to help confirm a diagnosis, which could lead to earlier support and more effective management.”
“Post-COVID syndrome, commonly referred to as long Covid, is one example of ME/CFS, where a similar cluster of symptoms is triggered by the COVID-19 virus, rather than by other known causes such as glandular fever. We therefore hope that our research will also help pave the way for a similar test to diagnose long Covid accurately.”
EpiSwitch 3D genomics unlocks new insights
The team utilised advanced EpiSwitch 3D Genomics technology from Oxford BioDynamics (AIM: OBD) to investigate how DNA is folded in blood samples from 47 patients with severe ME/CFS and 61 healthy controls.
Each of our cells contains approximately 2 meters of DNA, folded into a 3D structure. All these folds are deliberate, forming a hidden code that helps regulate gene expression to maintain our health.
The team identified a unique pattern that appears consistently in people with ME/CFS, which is not seen in healthy people. They examined 3D genomic folds, revealing hundreds of additional changes, including five of the eight sites identified by the DecodeME study, the most extensive genetic investigation to date.
The analysis showed that the test has 92% sensitivity in identifying ME/CFS, indicating that it can successfully identify those with the disease. The test also had 98% specificity, indicating how well it identifies individuals who do not have the disease.
OBD Chief Scientific Officer, Alexandre Akoulitchev, said: “Chronic Fatigue Syndrome is not a genetic disease you’re born with. That’s why using EpiSwitch ‘epigenetic‘ markers – which can change during a person’s lifetime, unlike the fixed genetic code – was key to achieving this high level of accuracy.
“The EpiSwitch platform behind this test, together with OBD’s vast 3D Genomic knowledgebase, has already been proven to deliver practical, rapid blood diagnostics accessible at scale.
“With this breakthrough, we are proud to enable a first-in-class test that can address an unmet need for a quick and reliable diagnostic for a complex, challenging-to-identify illness.“
“This is a significant step forward,“ said UEA’s Prof Pshezhetskiy. “For the first time, we have a simple blood test that can reliably identify ME/CFS – potentially transforming how we diagnose and manage this complex disease.”
“Additionally, understanding the biological pathways involved in ME/CFS opens the door to developing targeted treatments and identifying which patients might benefit most from specific therapies.
“We hope that the Episwitch® CFS test could become a vital tool in clinical settings, paving the way for more personalised and effective care.”
