Researchers have developed the first blood test that could help diagnose myalgic encephalomyelitis, also known as chronic fatigue syndrome. <\/p>\n
The condition is thought to affect more than 400,000 people in Britain but there is at present no diagnostic test, meaning patients often go undiagnosed for years and have their symptoms dismissed by doctors.<\/p>\n
However, academics at the University of East Anglia have made an advance in the diagnosis of ME by developing a blood test which identifies genetic markers for the condition.<\/p>\n
Experts have cautioned that the research is still in its early stages, and larger studies will be needed before the test could be used widely on the NHS.<\/p>\n
Professor Dmitry Pshezhetskiy, a lead researcher, said: \u201cME\/CFS is a serious and often disabling illness characterised by extreme fatigue that is not relieved by rest.<\/p>\n
\u201cWe know that some patients report being ignored or even told that their illness is \u2018all in their head\u2019; 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 \u2014 and we did.<\/p>\n
\u201cOur 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.\u201d<\/p>\n
\u2022 Lack of ME research because of \u2018medical misogyny\u2019, says top scientist<\/a><\/p>\n Scientists from UEA and Oxford Biodynamics (OBD) set out to examine how DNA is folded in patients diagnosed with the condition, which could provide telltale signs of ME.<\/p>\n Using OBD\u2019s EpiSwitch 3D Genomics technology, they looked at blood samples from 47 patients with severe ME\/CFS and 61 healthy adults.<\/p>\n The team discovered a unique pattern that appears consistently in people with ME that is not seen in healthy people, enabling them to develop the test.<\/p>\n Writing in the Journal of Translational Medicine, experts said that the test had a sensitivity \u2014 or the likelihood of a test being positive if that patient has the condition \u2014 of 92 per cent.<\/p>\n It also has a specificity \u2014 the probability that the test will rule out negative cases \u2014 of 98 per cent.<\/p>\n Pshezhetskiy added: \u201cThis is a significant step forward; for the first time, we have a simple blood test that can reliably identify ME\/CFS \u2014 potentially transforming how we diagnose and manage this complex disease.<\/p>\n \u201cAdditionally, understanding the biological pathways involved in ME\/CFS opens the door to developing targeted treatments and identifying which patients might benefit most from specific therapies.<\/p>\n \u201cWe hope that the Episwitch CFS test could become a vital tool in clinical settings, paving the way for more personalised and effective care.\u201d<\/p>\n Alexandre Akoulitchev, the OBD chief scientific officer, added: \u201cChronic fatigue syndrome is not a genetic disease you\u2019re born with, that\u2019s why using EpiSwitch \u2018epigenetic\u2019 markers \u2014 which can change during a person\u2019s life, unlike fixed genetic code \u2014 was key to reaching this high level of accuracy.<\/p>\n \u201cWith 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.\u201d<\/p>\n Commenting on the finding, Dr Charles Shepherd, medical adviser for the ME Association, said: \u201cThese results, using epigenetic profiling, appear to be an important step forward in the search for a diagnostic blood test.<\/p>\n \u201cHowever, as the researchers point out, a diagnostic blood test has to be both highly sensitive and specific to that condition.<\/p>\n \u201cIn this case, we therefore need to know whether the abnormality is consistently present in the very early stages of ME\/CFS as well as in people with longstanding disease who have mild or moderate ME\/CFS.\u201d<\/p>\n Professor Chris Ponting, chairman of medical bioinformatics at the University of Edinburgh, added: \u201cThis test needs to be fully validated in better-designed and independent studies before it is considered for clinical application.<\/p>\n \u201cEven if validated, the test will be expensive, likely about \u00a31,000.\u201d<\/p>\n ME leads to symptoms including exhaustion and pain. Severe cases can be fatal, with patients bedridden and unable to eat or drink. It has taken decades to overturn a misconception in medicine<\/a> that ME is a psychological or behavioural disorder. <\/p>\n