Researchers from the University of East Anglia and Oxford Biodynamics have announced the development of the world's first blood test that can accurately detect the presence of chronic fatigue syndrome (ME/CFS). The test, which identifies specific changes in DNA structure, showed an accuracy of up to 98%, writes UNN with reference to The Guardian.
Details
Lead researcher, Professor Dmitry Pshezhetsky from the Norwich Medical School at the University of East Anglia (UEA), said: "ME/CFS is a serious and often debilitating illness characterized by extreme fatigue that does not improve with rest. We know that some patients report being ignored or even told that their illness is 'all in their head'. Without definitive tests, many patients go undiagnosed or misdiagnosed for years."
We wanted to see if we could develop a blood test to diagnose this condition – and we succeeded. Our discovery offers the potential for a simple and accurate blood test to help confirm a diagnosis, which could lead to earlier support and more effective treatment.
Research
Scientists from the University of East Anglia (UEA), together with Oxford Biodynamics (OBD), analyzed how the DNA structure changes in people with chronic fatigue syndrome. For the study, they used blood samples from 47 patients with this diagnosis and 61 samples from healthy people. As a result, the team found a characteristic pattern in the DNA that is inherent only to ME/CFS patients and is absent in healthy people. This discovery made it possible to create a new highly accurate test.
As stated in the publication of the Journal of Translational Medicine, the test has 92% sensitivity - that is, in most cases it correctly determines the presence of the disease, and 98% specificity, which means the ability to accurately exclude false results in healthy people.
Pshezhetsky added: "This is a significant step forward, as for the first time we have a simple blood test that can reliably identify ME/CFS - potentially changing how we diagnose and treat this complex disease."
Alexander Akulitchev, Chief Scientific Officer at OBD, who funded and co-authored the study, said: "Chronic fatigue syndrome is not a genetic disease that a person is born with, so the use of 'epigenetic' EpiSwitch markers, which can change throughout a person's life, unlike a fixed genetic code, was key to achieving such a high level of accuracy."
Criticism of the method
However, other experts have called for further research to confirm this finding and to evaluate the test among a larger number of patients.
Dr. Charles Shepherd, medical advisor to the ME Association, said: "These results, obtained using epigenetic profiling, appear to be an important step in the search for a diagnostic blood test."
However, as the researchers note, a diagnostic blood test must be both highly sensitive and specific for this condition. In this case, we need to know if the abnormality is consistently present in the very early stages of ME/CFS, as well as in people with long-term illness who have mild or moderate ME/CFS. We also need to know that, in addition to this abnormality being absent in healthy control subjects, it is also absent in a number of other chronic inflammatory and autoimmune diseases that cause symptoms similar to ME/CFS and are part of the differential diagnosis of ME/CFS.
Professor Chris Ponting, Chair of Medical Bioinformatics at the University of Edinburgh, stated that some of the research team's claims are "premature."
He said: "This test requires full validation in better designed and independent studies before it is considered for clinical use. Even if the test is validated, it will be expensive, probably (around) £1000."