Scientists from the University of East Anglia (UEA) and Oxford Biodynamics (OBD) have developed what they describe as the world’s first accurate blood test to diagnose myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) — a condition long characterised by debilitating fatigue and a lack of clear diagnostic tools.
Currently, ME/CFS is diagnosed primarily through symptoms and exclusion of other diseases, often leaving patients undiagnosed or misdiagnosed for years. The new study, published in the Journal of Translational Medicine, offers hope for earlier, more reliable diagnosis — though experts caution that further validation is essential before clinical use.
The research team, led by Professor Dmitry Pshezhetskiy of UEA’s Norwich Medical School, analysed how DNA folds within blood samples. By studying samples from 47 ME/CFS patients and 61 healthy controls, they discovered a distinct epigenetic pattern that consistently appeared in people with ME/CFS. This allowed them to design a test with a 92% sensitivity (correctly identifying those with the disease) and 98% specificity (correctly ruling out those without it).
Professor Pshezhetskiy said the test could “transform how we diagnose and manage this complex disease,” providing long-awaited validation for patients often told their illness was psychological. The key, according to Dr Alexandre Akoulitchev, OBD’s chief scientific officer, lies in using EpiSwitch epigenetic markers—biological changes that occur over a person’s lifetime rather than fixed genetic mutations—enabling precise identification of the disease’s biological signature.
However, several experts urged restraint. Dr Charles Shepherd from the ME Association welcomed the findings as a promising step but emphasised that the test must be proven reliable across all stages of the illness, including mild and early cases. He also noted the need to ensure that the same epigenetic markers are not found in other chronic or autoimmune conditions with overlapping symptoms.
Similarly, Professor Chris Ponting from the University of Edinburgh described some of the claims as “premature,” stressing that the results must be independently replicated in larger, better-designed studies before the test can be adopted clinically. He also pointed out that, even if validated, the test could be expensive—potentially costing around £1,000.
In summary, the study represents a major scientific milestone in understanding and diagnosing ME/CFS, a condition often dismissed and misunderstood. While the discovery offers new hope for patients seeking recognition and effective management, experts agree that independent replication and broader testing are essential before this diagnostic breakthrough can be fully implemented in healthcare settings.
