Scientists develop first ‘accurate blood test’ to detect chronic fatigue syndrome | ME / Chronic fatigue syndrome
Scientists say they have developed the world’s first blood test to diagnose myalgic encephalomyelitis, also known as chronic fatigue syndrome (ME/CFS).
There is currently no test for the condition and patients tend to be diagnosed based on symptoms, meaning many go undiagnosed for years.
However, some experts research He said caution and the test needed to be fully validated in better designed and independent studies before it could be considered for use in clinical practice.
Lead researcher Prof Dmitry Pshezhetskiy, from Norwich Medical School at the University of East Anglia (UEA), said: “ME/CFS is a serious and often disabling disease characterized by extreme fatigue that is not relieved by rest. Some patients report that many of their illnesses have been ignored, or even that their illnesses have been diagnosed by tests they have been going on for years.
“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.”
Scientists at UEA and Oxford Biodynamics (OBD) looked at how DNA folds in patients diagnosed with the condition, which can provide tell-tale symptoms of ME/CFS.
They examined blood samples from 47 patients with severe ME/CFS and 61 healthy adults. The team discovered a unique pattern that was not seen in healthy people and appeared consistently in people with ME/CFS, which allowed them to develop the test.
Writing in the Interpreter Medical Journal, they said the test has a sensitivity, or 92% chance of a test being positive if that patient has the condition. It has a specificity – the probability that the test will rule out negative cases – of 98%.
PSHEZHETSKIY added: “This is a significant step forward, for the first time we have a simple blood test that can reliably identify mole/CFS – potentially transforming how we diagnose and manage this complex disease.”
“Chronic fatigue syndrome is not a genetic disease you are born with, so using epigenetic ‘markers’ in this high-level genetic code that can change throughout a person’s life was key to achieving this high level,” said Alexandre Akoulitchev, OBD’s chief scientific officer, who funded and co-authored the research.
However, other experts called for further studies to confirm the finding and evaluate the test among a broader patient population.
Dr Charles Shepherd, medical advisor to the ME Association, said: “These results using epigenetic profiling appear to be an important step in the search for diagnostic blood testing.
“However, as the researchers note, a diagnostic blood test must be both highly sensitive and specific to this condition. In this case, we need to know whether the abnormality is consistently present in the very early stages of ME/CFS and in people with long-standing disease who have ME/CFS.”
“We should also recognize that in addition to the abnormality being absent in healthy controls, it is not present in a number of chronic inflammatory and autoimmune diseases that cause ME/CFS-like symptoms and form part of the differential diagnosis of ME/CFS.”
Prof Chris Ponting, head of medical bioinformatics at the University of Edinburgh, said some of the claims made by the research team were “premature”.
He said: “This test needs to be fully validated in more well-designed and independent studies before it can be considered for clinical application. Even if validated, the test will be expensive, possibly £1,000.”
