New Blood Test for Myalgic Encephalomyelitis
Researchers claim to have created the first blood test aimed at diagnosing myalgic encephalomyelitis, commonly referred to as chronic fatigue syndrome (ME/CFS).
Currently, there are no established tests for this condition, leading to diagnoses primarily based on symptoms. This often results in delays, with many patients going without a diagnosis for years.
Some experts who weren’t part of the study have urged a cautious approach. They noted that before this test can be applied in clinical settings, it must undergo thorough validation through well-structured and independent research.
Prof. Dmitry Pshezhetskiy, the lead researcher from the University of East Anglia’s Norwich Medical School, emphasized that ME/CFS is a significant, disabling illness characterized by intense fatigue that rest does not alleviate. He pointed out that many patients feel overlooked or told their illness is just “in their head.” Without definitive tests, this can lead to prolonged misdiagnosis or no diagnosis at all.
He continued, “We aimed to develop a blood test for this condition—and we succeeded. Our findings could pave the way for an accurate and straightforward blood test that can confirm diagnoses, potentially leading to earlier intervention and better management.”
Collaboration between UEA and Oxford Biodynamics (OBD) focused on the unique DNA folding patterns present in patients diagnosed with ME/CFS, which might indicate the condition.
The research involved analyzing blood samples from 47 patients with severe ME/CFS and 61 healthy individuals. The team identified a distinct pattern that was consistently absent in healthy participants, forming the basis for the new test.
According to their findings published in the Journal of Translational Medicine, the test demonstrated a sensitivity of 92%—meaning a positive result is very likely if a patient has the condition—and a specificity of 98%, indicating a strong probability of ruling out negative cases.
Pshezhetskiy remarked that this represents a major advancement: “Finally, we have a straightforward blood test capable of reliably identifying ME/CFS, which could change how we approach diagnosis and management of this complex illness.”
Alexandre Akoulitchev, chief scientific officer at OBD, which supported and contributed to the study, mentioned that chronic fatigue syndrome isn’t a genetic disease one is born with. Therefore, leveraging EpiSwitch ‘epigenetic’ markers—subject to change throughout a person’s life—was crucial for achieving such accuracy.
Nevertheless, other experts are calling for further investigation to validate these findings and evaluate the test’s effectiveness across a broader patient base.
Dr. Charles Shepherd, a medical advisor for the ME Association, noted the significance of these results, pointing out the potential of epigenetic profiling in the search for a diagnostic blood test. However, he stressed the importance of confirming that the abnormalities identified are present not only in established cases but also in the early stages of ME/CFS, as well as ensuring that these abnormalities aren’t found in patients with other chronic inflammatory and autoimmune conditions that might mimic ME/CFS symptoms.
Prof. Chris Ponting from the University of Edinburgh cautioned that some claims from the research team appear to be “premature.” He remarked that the test requires complete validation through better-designed independent studies before it can be considered for practical use. Even if validated, the test might be costly, potentially around £1,000.
