Groundbreaking Claim: A Blood Test for ME/CFS
Scientists from the University of East Anglia (UEA) and Oxford Biodynamics (OBD) say they have developed what could be the world’s first blood test capable of diagnosing myalgic encephalomyelitis, commonly known as chronic fatigue syndrome or ME/CFS. If validated, the test would represent a major shift in how ME/CFS is diagnosed and managed, moving away from symptom-based assessments toward a measurable biomarker in the blood.
ME/CFS is a complex, often disabling condition characterized by extreme fatigue that isn’t relieved by rest, along with a range of other symptoms such as cognitive impairment, sleep disturbance, and pain. For decades, patients have faced long delays or misdiagnoses because there has been no definitive laboratory test.
How the Test Works
The researchers analyzed blood samples from 47 patients with severe ME/CFS and 61 healthy controls. They examined how DNA is folded in immune cells and identified a distinct epigenetic pattern that appeared consistently in those with ME/CFS but not in healthy individuals. This approach leverages EpiSwitch epigenetic markers, which reflect changes in gene regulation that can occur over a person’s lifetime rather than fixed genetic sequences.
According to the team, the test demonstrated a sensitivity of 92%—meaning it correctly identified a high proportion of people with ME/CFS—and a specificity of 98%—indicating a strong ability to rule out those without the condition. In their report published in the Journal of Translational Medicine, the authors described the test as a potential tool to confirm diagnoses and guide earlier support and management for patients.
What This Could Mean for ME/CFS Care
Lead researcher Prof Dmitry Pshezhetskiy of UEA’s Norwich Medical School emphasized the potential impact: a simple, accurate blood test could reduce the diagnostic odyssey many patients endure and enable earlier, better-targeted interventions. Alexandre Akoulitchev, chief scientific officer at OBD, stressed that using epigenetic markers allows detection of changes that can evolve with life, potentially capturing ME/CFS in its varied forms more reliably than static genetic tests.
Experts not involved in the study acknowledge the promise but urge caution. A number of clinicians and researchers say the results must be replicated in larger, independently conducted studies and across a broader patient population before this test can be adopted clinically. They also note that real-world performance may differ from initial results, and questions remain about where the test sits in the diagnostic pathway relative to other conditions that mimic ME/CFS.
Experts Call for Validation and Further Research
Dr Charles Shepherd, ME Association medical adviser, welcomed the direction of epigenetic profiling but highlighted the need to verify the test across early-stage and long-standing ME/CFS, as well as its specificity against other inflammatory and autoimmune diseases with similar symptoms. Prof Chris Ponting of the University of Edinburgh urged full validation in independent studies and warned that, even if proven reliable, the test could be costly—potentially around £1,000 per patient—before widespread clinical use is justified.
Moving Toward Clinical Practice: The Road Ahead
The study’s authors acknowledge that, despite promising results, the path to routine clinical implementation will require larger cohorts, multi-center trials, and rigorous assessment against diverse patient groups. If subsequent research confirms the findings, the test could become an essential tool to authenticate ME/CFS diagnoses, tailor patient management plans, and potentially speed up access to care and support services.
As the ME/CFS research community weighs the initial data, patients and clinicians are watching closely. The development of an accurate, laboratory-based diagnostic test could finally address a long-standing gap in ME/CFS care, but only through comprehensive validation that proves the test’s reliability, affordability, and real-world usefulness.
