Breakthrough in diagnosing chronic fatigue syndrome
A team of scientists from the University of East Anglia has announced a potential breakthrough in diagnosing chronic fatigue syndrome, also known as CFS or myalgic encephalomyelitis (ME). The researchers report that a blood test can identify the condition with an overall accuracy of 96%, marking a significant departure from the current diagnostic approach, which often relies on symptom history and the exclusion of other illnesses.
How the test works
Using advanced DNA analysis, the study examined how genetic material is folded in blood samples, an aspect governed by epigenetics. The team collaborated with biotech firm Oxford BioDynamics to analyze the 3D structure of DNA from samples of 47 patients with severe CFS symptoms and 61 healthy controls. While the DNA sequence itself is fixed at birth, the way DNA folds and interacts with chemical tags can change in response to life events and disease, altering which genes are active.
Researchers found a distinctive epigenetic pattern in people with CFS. A diagnostic test based on this pattern correctly identified 92% of CFS patients and 98% of healthy individuals, yielding an overall accuracy of 96%. Lead researcher Professor Dmitry Pshezhetskiy emphasized that this represents a potentially simpler, more objective method to confirm a diagnosis than ever before.
Implications for patients and care pathways
If independently validated, the test could shorten the long and frustrating diagnostic journey many patients currently endure. Professor Pshezhetskiy noted that some individuals feel their symptoms are dismissed or misattributed, and a reliable blood test could enable earlier access to appropriate support and management strategies.
Experts point out that a precise test for CFS may also influence how clinicians think about related conditions, including long COVID. Dr. Chris Ponting of the University of Edinburgh, who was not involved in the study, cautioned that the findings should be validated in larger, more diverse populations before clinical use. He also highlighted potential cost considerations if the test becomes part of routine practice.
Next steps and cautions
The study, published in the Journal of Translational Medicine, is an early but encouraging step toward a robust biomarker for CFS. Independent replication in broader clinical studies is now essential to confirm the test’s reliability across different ages, sexes, and comorbidity profiles. Until such validations are completed, experts urge caution about rolling out a private, potentially expensive diagnostic tool to patients seeking answers for debilitating symptoms.
Even with a strong signal, the path from a research finding to a standard clinical test involves regulatory review, standardization of testing procedures, and confirmation that the test remains accurate across various laboratories. If these hurdles are met, the same approach could be adapted to probe other conditions that share symptom overlap with CFS, including post-viral syndromes associated with long COVID.
A hopeful, but measured, outlook
For patients living with ME/CFS, a validated blood test could transform both diagnosis and management. It promises a clearer starting point for treatment plans, disability assessments, and access to support services. However, the scientific community remains cautious: a test with compelling initial data must withstand rigorous replication and cost-benefit analyses before it becomes a routine clinical option.
As researchers pursue these validation studies, many patients and clinicians will watch the developments closely, hopeful that a biomarker-driven approach to ME/CFS—and potentially long COVID—will deliver timely, accurate, and accessible diagnostics in the future.
