New Hope in Diagnosing ME/CFS with a Blood Test
Researchers from the University of East Anglia (UEA) and Oxford Biodynamics (OBD) report a potential breakthrough: the world’s first blood test that could accurately diagnose myalgic encephalomyelitis, commonly known as chronic fatigue syndrome (ME/CFS). The study, published in the Journal of Translational Medicine, suggests that patterns in DNA epigenetic markers—changes that can occur over a person’s life—may distinguish ME/CFS patients from healthy individuals with high accuracy.
ME/CFS is a complex, often disabling illness characterized by extreme fatigue that isn’t relieved by rest and can be accompanied by cognitive issues, sleep disturbances, and pain. Historically, there has been no definitive diagnostic test, leaving many patients undiagnosed or misdiagnosed for years. The prospect of a simple blood test could transform how clinicians identify and manage the condition.
How the Test Works
The research team examined blood samples from 47 patients diagnosed with severe ME/CFS and 61 healthy controls. They focused on how DNA is folded in cells—a concept known as epigenetics. The team identified a consistent epigenetic pattern in ME/CFS patients that was absent in healthy individuals. This pattern could form the basis of a diagnostic test with high accuracy.
The researchers reported a sensitivity of 92% and a specificity of 98%. In practical terms, the test correctly identifies ME/CFS in most people who have it and correctly rules out the condition in most healthy individuals. If validated, the test could offer a quicker, more reliable way to confirm a diagnosis, enabling patients to access appropriate support and management sooner.
What Independent Experts Say
While the findings are promising, several experts caution that further validation is essential before the test can enter routine clinical practice. Dr. Charles Shepherd, medical adviser for the ME Association, emphasized the need to determine whether the epigenetic abnormality is present in early-stage ME/CFS as well as in various severities of the disease. He also noted the importance of ensuring the marker is not present in other chronic inflammatory or autoimmune conditions that can mimic ME/CFS.
Prof. Chris Ponting, a specialist in medical bioinformatics, described some of the study’s claims as premature until they are replicated in larger, independent cohorts. He also pointed out potential cost considerations, suggesting that even with validation, such a test could be expensive, potentially around £1,000 per test.
What This Means for Patients
If future work confirms these results, clinicians could use the blood test to confirm ME/CFS diagnoses more quickly, reducing the diagnostic odyssey many patients face. Early and accurate diagnosis could lead to better management strategies, including tailored rehabilitation plans, symptom relief approaches, and improved access to support services.
Researchers from UEA and OBD stressed that this development does not imply ME/CFS is purely a genetic condition. Instead, they highlighted the role of epigenetic markers—changes that can reflect a person’s environment and life experiences—in diagnosing the illness.
Looking Ahead
Further studies with larger, more diverse populations are needed to validate the test’s accuracy and reliability across different ages, severities, and comorbidities. Independent replication will be critical to determine whether this epigenetic signature stands up under real-world clinical conditions. If confirmed, the test could become an essential tool in the diagnostic toolkit for ME/CFS, offering hope to millions of people living with this challenging condition.
