‘Breakthrough’ as scientists develop world’s first blood test to diagnose chronic fatigue syndrome

Chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME), is a serious and disabling illness characterised by extreme fatigue that is not relieved by rest.

Diagnosis currently relies solely on symptoms, meaning many go undiagnosed or misdiagnosed for years.

While this development offers promise, other experts have called for more studies to confirm the finding.

Around 400,000 people in the UK have the condition, but its cause and treatment have long been the subject of controversy.

“We know that some patients report being ignored or even told that their illness is ‘all in their head’,” said lead researcher Professor Dmitry Pshezhetskiy, from the University of East Anglia’s (UEA) Norwich Medical School.

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“We wanted to see if we could develop a blood test to diagnose the condition – and we did.

“Our discovery offers the potential for a simple, accurate blood test to help confirm a diagnosis, which could lead to earlier support and more effective management.”

Researchers from the University of East Anglia (UEA) and Oxford Biodynamics (OBD) identified a unique DNA-folding pattern in the blood of people with ME/CFS.

Using OBD’s EpiSwitch 3D Genomics technology, they tested blood samples from 47 patients with severe ME/CFS and 61 healthy volunteers.

The team discovered a unique pattern that appears consistently in people with ME/CFS that is not seen in healthy people, enabling them to develop the test.

A test based on the pattern was able to identify 92% of people with CFS and 98% of those who were healthy, with an overall accuracy of 96%.

Prof Pshezhetskiy added: “This is a significant step forward, for the first time, we have a simple blood test that can reliably identify ME/CFS – potentially transforming how we diagnose and manage this complex disease.”

He said that the discovery could also help develop tests for related conditions such as long COVID, which shares many symptoms.

OBD’s chief scientific officer Dr Alexandre Akoulitchev noted that the test relies on epigenetic markers, which change over a person’s lifetime, rather than fixed genetic code — a key factor behind its accuracy.

He said: “With this breakthrough, we are proud to enable a first-in-class test that can address an unmet need for a quick and reliable diagnostic for a complex, challenging-to-identify illness.”

Whilst other experts have welcomed the breakthrough, they have also urged caution.Dr Charles Shepherd from the ME Association called it “an important step forward” but said further validation is needed to ensure the abnormality is unique to ME/CFS and not found in similar diseases.

Professor Chris Ponting, Chairman of Medical Bioinformatics at the University of Edinburgh, has also warned that “the test needs to be fully validated in independent studies” and could cost around £1,000.