Scientists claim to have developed first ever blood test to diagnose ME

Scientists say they have developed the first blood test to diagnose ME.

Myalgic Encephalomyelitis (ME) is a poorly understood syndrome which currently sees sufferers struggle for years without a diagnosis, often with devastating consequences. Otherwise known as Chronic Fatigue Syndrome, it is the subject of an NHS review following the landmark inquest of Maeve Boothby O'Neill last year.

The 27-year-old died unable to speak and malnourished, having begged doctors for help to eat when her body shut down. Many of Britain’s 400,000 sufferers are bedbound with extreme fatigue.

Now researchers have developed a DNA blood test to identify people who have the condition and say similar technology could soon be used to diagnose Long Covid.

READ MORE: ME sufferers 'feel invisible and ignored' as NHS review shows two-thirds more affected

Lead researcher Prof Dmitry Pshezhetskiy, from the University of East Anglia (UEA), said: “ME is a serious and often disabling illness characterised by extreme fatigue that is not relieved by rest. We know that some patients report being ignored or even told that their illness is ‘all in their head’.

“With no definitive tests, many patients have gone undiagnosed or misdiagnosed 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.”

ME’s key feature is called “post-exertional malaise” which is a dramatic worsening of symptoms following minor physical effort, such as a walk to the shops. Other symptoms include pain, brain fog and extreme energy limitation. Causes are unknown and there is currently no diagnostic test or cure.

Scientists led by experts from UEA and Oxford Biodynamics (OBD) identified how DNA is folded in patients diagnosed with ME using its new EpiSwitch technology. They looked at blood samples from 47 patients with severe ME and 61 healthy adults and discovered a unique pattern in people with ME that is not seen in healthy people.

The research published in the Journal of Translational Medicine said the test has a sensitivity - or the likelihood of a test being positive if that patient has the condition - of 92%. It reported a specificity - the probability the test will rule out negative cases - of 98%. The test would cost around £1,000 if approved by UK regulators.

Prof Pshezhetskiy said the test could help understand the “biological pathways” of ME to also help develop treatments. He added: "This is a significant step forward, for the first time, we have a simple blood test that can reliably identify ME, potentially transforming how we diagnose and manage this complex disease."

OBD chief scientific officer, Alexandre Akoulitchev, added: "Chronic Fatigue Syndrome is not a genetic disease you're born with, that's why using EpiSwitch 'epigenetic' markers - which can change during a person's life, unlike fixed genetic code - was key to reaching this high level of accuracy.

"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."

White people are more likely to develop ME and by middle age, women are six times more likely to have developed ME than men.

Maeve Boothby O'Neill’s death sparked a NHS review of the treatment of ME. Having suffered from ME since she was a teenager, by her mid-20s Maeve was left bedbound, unable to speak and malnourished. She begged for help to eat but doctors were unable to treat her illness. She chose to leave hospital and die in her home "in the care of those she loved" in 2021.

Last October coroner Deborah Archer issued the first ever “prevention of future deaths report” for ME. She called on Health Secretary Wes Streeting and the NHS to take urgent action to address the "non-existent" care for ME and lack of funding for research.

Analysis of NHS data from 62 million people in England found that lifetime chances of developing ME are up to 0.92% for women and 0.25% for men.

ME experts have called for more studies in bigger groups of patients to confirm the new test actually works.

Dr Charles Shepherd, medical adviser for The ME Association, said: "These results, using epigenetic profiling, appear to be an important step forward in the search for a diagnostic blood test. However, as the researchers point out, a diagnostic blood test has to be both highly sensitive and specific to that condition.

"In this case, we therefore need to know whether the abnormality is consistently present in the very early stages of ME as well as in people with longstanding disease who have mild or moderate ME. We also need to know that, in addition to the abnormality not being present in healthy controls, it is also not present in a range of other chronic inflammatory and autoimmune diseases that cause ME-like symptoms.

READ MORE: Most young people 'will recover from Long Covid' in major hope for patients

"Further research needs to be carried out to properly validate and repeat these findings before concluding that we do now have a highly sensitive and specific diagnostic blood test for ME."

Dr Alastair Miller, retired consultant physician in infectious disease and internal medicine, said: “The authors are claiming a higher rate of sensitivity and specificity than in most other biomedical tests. A 96% accuracy is almost unheard of for this sort of test, so this is quite a remarkable claim.

“My main concern with this study is the lack of appropriate controls. They are using healthy controls rather than those with other chronic conditions such as depression or fibromyalgia or even MS. My worry is that it will prove to be yet another false dawn, launched with a huge amount of hype and will raise patients’ expectations unrealistically.”