Overview: A Potential Breakthrough in ME/CFS Diagnosis
A team of researchers from the University of East Anglia has unveiled what they describe as the first-ever blood test capable of diagnosing chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME). The test demonstrates an overall accuracy of 96% in distinguishing people with ME/CFS from healthy individuals, according to the study published in the Journal of Translational Medicine.
Chronic fatigue syndrome is a disabling illness marked by extreme fatigue that isn’t alleviated by rest and is accompanied by a range of other symptoms, such as cognitive difficulties, sleep disturbances, and pain. The condition affects roughly 400,000 people in the United Kingdom, though its causes and treatments have long been a source of debate and frustration for patients and clinicians alike.
How the Test Works: Epigenetics at the Core
The researchers used a technology platform from Oxford BioDynamics to examine how DNA is folded in blood samples. The concept centers on epigenetics—the chemical tags and 3D arrangement of genetic material that influence which genes are active. While the DNA sequence remains fixed, the way DNA is packaged and folded in cells can change with life events and disease states.
In the study, 47 patients with severe ME/CFS symptoms and 61 healthy controls provided blood samples. The team identified a distinctive pattern of epigenetic markers in those with ME/CFS. A diagnostic model based on this pattern correctly identified 92% of ME/CFS patients and 98% of healthy participants, culminating in an overall accuracy of 96%.
Potential Implications for Diagnosis and Care
Lead researcher Professor Dmitry Pshezhetskiy emphasized the potential impact: a simple, reliable blood test could streamline diagnosis, reduce misdiagnosis, and enable earlier support and more effective management for patients who have often faced years of uncertainty. “With no definitive tests, many patients have gone undiagnosed or misdiagnosed for years,” he said. “Our discovery offers the potential for a simple blood test to help confirm a diagnosis.”
The study also highlights a broader connection to long COVID, a post-viral syndrome with symptoms overlapping ME/CFS. The researchers suggest that the same epigenetic approach could pave the way for diagnostic tests for long COVID, potentially aiding millions who experience lingering symptoms after SARS-CoV-2 infection.
Now and Next: Validation, Availability, and Price
Despite the encouraging findings, experts outside the study urge caution. Independent validation in larger and more diverse populations is essential before clinical adoption or private testing becomes widespread. Prof Chris Ponting of the University of Edinburgh, who was not involved in the research, noted potential limitations due to differences in sex, age, and other factors between patients and controls. He warned that “the claims are premature” without robust replication.
Even with validation, cost considerations could shape how quickly a blood test for ME/CFS reaches patients. Early estimates suggest the price could be around £1,000, a factor that will influence uptake and accessibility.
What Comes Next for ME/CFS Diagnostics
Researchers acknowledge that further work is needed to confirm the test’s reliability across varied populations and clinical settings. If subsequent studies corroborate these results, the test could become a cornerstone of ME/CFS diagnosis, reducing ambiguity for patients, clinicians, and families while guiding more tailored treatment plans and support services.
As science advances, the hope is that epigenetic profiling will illuminate the biology behind ME/CFS and related conditions. In parallel, the medical community will likely pursue parallel diagnostic avenues for long COVID, aiming to translate discovery into accessible, evidence-based care for those navigating post-viral fatigue and related symptoms.
Bottom Line
The reported blood test marks a significant step in ME/CFS research, offering a potential, objective diagnostic tool that could transform how the condition is recognized and managed. Still, the medical community awaits independent validation to confirm accuracy and generalizability before it becomes a routine clinical option.
