A major breakthrough has been made in diagnosing chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME).
Scientists at the University of East Anglia and Oxford BioDynamics have developed a blood test that can identify the illness with 96% accuracy.
This long-awaited advance could bring real hope to the millions of people worldwide who live with the debilitating condition, which has often been misunderstood and misdiagnosed.
CFS/ME is a serious, long-term illness marked by overwhelming tiredness that does not improve with rest.
It can also involve pain, poor concentration, and many other symptoms that make daily life very difficult. In the UK alone, more than 400,000 people are thought to be affected.
Yet for decades, there has been no reliable test, leaving many patients dismissed or told their symptoms were “all in their head.”
Professor Dmitry Pshezhetskiy from UEA explained that the team wanted to create a simple test that could give patients clarity and help doctors diagnose the condition earlier.
The test may also open the door to better support and management.
Because long COVID shares many features with CFS/ME, researchers hope this discovery will also lead to a similar test for people struggling with ongoing symptoms after COVID-19.
The breakthrough was made possible using advanced technology called EpiSwitch 3D Genomics.
This approach looks at how DNA is folded inside our cells. Each cell contains about two meters of DNA, and the way it is folded into three-dimensional shapes helps control which genes are turned on or off.
Unlike genetic changes that we are born with, these “epigenetic” patterns can shift during life, making them useful markers for complex diseases.
The researchers studied blood samples from 47 people with severe CFS/ME and compared them with 61 healthy volunteers.
They found a distinctive pattern of DNA folding in patients with CFS/ME that was not present in healthy individuals. This allowed the test to detect the condition with 92% sensitivity (correctly identifying those who have the illness) and 98% specificity (correctly identifying those who do not).
Dr. Alexandre Akoulitchev from Oxford BioDynamics highlighted that the technology has already been used to create other accurate blood tests, including one for prostate cancer now available in the UK and US.
The success of this new test shows that the same method can help with other difficult-to-diagnose diseases.
Beyond diagnosis, the findings also reveal important biological pathways linked to immune function and inflammation in CFS/ME. This could guide the development of new treatments and help doctors identify which patients may respond best to specific therapies.
“This is a big step forward,” said Prof Pshezhetskiy. “For the first time, we have a reliable, practical blood test that could transform how this condition is diagnosed and managed. It may also open the door to more personalized care in the future.”
The study was published in the Journal of Translational Medicine and involved researchers from UEA, Oxford BioDynamics, the London School of Hygiene & Tropical Medicine, and Royal Cornwall Hospitals NHS Trust.
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Source: University of East Anglia.
