New Blood Test Offers Hope for Diagnosing Chronic Fatigue Syndrome

Researchers have identified a distinct blood signature for chronic fatigue syndrome, also referred to as myalgic encephalomyelitis (CFS/ME), particularly in patients exhibiting severe symptoms.

Employing over 200 blood biomarkers, a team from the University of East Anglia, in collaboration with the biotech firm Oxford Biodynamics, claims to have created a diagnostic test for CFS/ME that boasts an accuracy rate of 96 percent.

“This marks a significant advancement,” says molecular biologist Dmitry Pshezhetskiy from UEA. “Many patients feel overlooked or are even told that their illness is merely psychological. Now, for the first time, we have a straightforward blood test that can accurately identify ME/CFS, which could revolutionize the way we diagnose and treat this multifaceted illness.”

The results bring a glimmer of hope to those suffering from chronic pain, dizziness, and symptoms akin to those of the flu. However, several independent experts remain skeptical about these findings.

Alastair Miller, a retired physician who did not participate in the study, observes that such a high level of accuracy is “almost unprecedented for this kind of test, so it’s quite an extraordinary assertion.”

Still, Miller expresses concern that this may turn out to be another case of inflated expectations, suggesting it could lead to disappointment among patients.

This research stands out from previous studies as it focuses on a wide range of biomarkers instead of just one or two. However, it’s worth noting that the “strong systemic” signal observed in patients with severe symptoms was only considered “strong” in comparison to healthy individuals.

Additionally, the study did not include analysis of those with mild or moderate CFS/ME, nor did it assess individuals with other conditions that share similar symptoms. These analyses are crucial for developing a reliable diagnostic test.

Applied statistician Kevin McConway, who was not involved in the research, notes that “there’s no guarantee” regarding how the test would perform in patients with other chronic illnesses, like cancer or autoimmune diseases.

Earlier this year, researchers reviewed available studies on CFS/ME blood biomarkers and concluded that, although no practical test currently exists, emerging findings offer promise for future clinical applications.

When such a test might be available remains uncertain. For years, scientists have explored various methods for diagnosing CFS/ME, achieving mixed results.

The latest research from UEA and Oxford Biodynamics leverages epigenetic changes, which occur when environmental or behavioral factors impact gene expression. Using a platform called Episwitch®, the team analyzed epigenetic regulators in 47 patients suffering from severe CFS/ME and 61 age-matched healthy individuals.

The study found that using 200 biomarkers, tests were able to accurately identify individuals with CFS/ME 96 percent of the time.

EpiSwitch® has also been utilized to develop clinical tests for prostate cancer by employing similar principles. Yet, diagnosing CFS/ME is particularly challenging because its symptoms vary widely.

It remains unclear whether all patients share the same underlying cause or if there are multiple factors contributing to similar outcomes. Many other conditions also exhibit overlapping symptoms.

In a statement regarding the research, officials from the ME Association UK acknowledged that epigenetic profiling represents “an important step forward in the quest for a diagnostic blood test.” However, they emphasized that an effective diagnostic tool must be both sensitive and specific to this condition.

“Thus, we need to investigate whether the identified abnormality is consistently present in the early stages of ME/CFS as well as in individuals with long-standing diseases exhibiting mild or moderate symptoms,” they said.

They also stressed the need for further research to validate these findings before concluding that a highly effective diagnostic blood test for ME/CFS is available.

The study has been published in the Journal of Translational Medicine.