Scientists at the University of East Anglia and Oxford Biodynamics have developed a high accuracy blood test to diagnose Chronic Fatigue Syndrome, also known as Myalgic Encephalomyelitis (ME/CFS). The debilitating long-term illness affects millions worldwide but is poorly understood and has long lacked reliable diagnostic tools. With 96% accuracy, the test offers new hope for those living with the condition – which is often misunderstood and misdiagnosed and it is hoped that the breakthrough could pave the way for a similar blood test to diagnose long COVID. The team used advanced EpiSwitch® 3D Genomics technology from Oxford BioDynamics (AIM:OBD) to see how DNA is folded in blood samples from 47 patients with severe ME/CFS and 61 healthy controls.
This approach using EpiSwitch has previously shown success in identifying disease-specific blood markers in highly complex inflammatory and neurological conditions such as fast ALS rheumatoid arthritis and certain cancers. This includes the EpiSwitch PSE test, which is a blood test with world-leading accuracy for prostate cancer already used in the UK and US. The team discovered a unique pattern that appears consistently in people with ME/CFS that is not seen in healthy people. Using a different approach, this work looked beyond the linear DNA sequence investigated by a previously published DecodeME study, the largest genetic investigation of ME/CFS to date.
By examining 3D genomic folds, scientists revealed hundreds of additional changes, including five of the eight sites identified by DecodeME, which can now provide a deeper understanding of the disease. The analysis showed remarkable accuracy – with 92% sensitivity in identifying ME/CFS, which indicates how well the test identifies those who have the disease (a show of true positives) and 98% specificity, which indicates how well it identifies those who do not have the disease. The researchers also found signs of immune system and inflammation pathways involved in the disease, which may help guide future treatments and identify patients more likely to respond to specific therapies.
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. 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. Long COVID, is one example of ME/CFS, where a similar cluster of symptoms is triggered by the coronavirus, 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 accurately diagnose this condition”.
- Edited by Dr. Gianfrancesco Cormaci, PhD, specialist in Clinical Biochemistry.
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