We are witnessing a groundbreaking moment in the field of precision medicine. They’re responsible for developing the first blood test in the world to diagnose myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). This chronic disease is marked by profound physical and mental exhaustion that isn’t alleviated by sleep. As a consequence, countless individuals endure years of misdiagnosis or worse, remain undiagnosed. Professor Dmitry Pshezhetskiy heads up a vibrant multidisciplinary research group at the University of East Anglia’s Norwich Medical School. Their mission is to educate, advocate, and empower patients affected by this debilitating disease.
Given that there is no clear diagnostic test for ME/CFS, patients have often been forced to trek through a cumbersome healthcare jungle. Patients living with ME/CFS frequently face disbelief when it comes to their symptoms. Most commonly, they report being told that their symptoms are all in their head or psychosomatic. Yet, without any recognition of their condition, patients may wait years to receive adequate treatment or even learn what is making them ill.
That’s where the newly developed blood test truly shines, with an impressive specificity rate of 98%. This high degree of accuracy makes it a powerful test to rule out bad cases. Such a high degree of specificity is made possible by employing epigenetic profiling. This pioneering method considers dynamic shifts in gene expression rather than predefined genetic indicators. Taking a second look at the data from the blood samples, the research team looked at 47 patients with a diagnosis of severe ME/CFS. They tested each of these samples against samples from 61 healthy adults.
Even with favorable findings, the clinical application of the test is still in question. Professor Chris Ponting, chair of medical bioinformatics at the University of Edinburgh, cautioned against the research team’s conclusions. He added that many of these claims might be “premature.” He said more validation through independent, well-designed studies is necessary before the test should be considered for widespread clinical use.
“This test needs to be fully validated in better-designed and independent studies before it is considered for clinical application. Even if validated, the test will be expensive, likely (about) £1,000.” – Prof Chris Ponting
The prohibitive expense of this blood test adds another barrier for patients. These people already face substantial financial burdens due to their illness. OBD funded the research and co-authored the study. Chief Scientific Officer, Alexandre Akoulitchev, told us that ideally epigenetic markers should be in use.
“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.” – Alexandre Akoulitchev
When asked about this milestone release, Professor Pshezhetskiy shared his excitement. He reminded us that ME/CFS is a devastating disease, frequently resulting in disability, and has been subjected to skepticism for much too long a time.
“ME/CFS is a serious and often disabling illness characterized 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.” – Prof Dmitry Pshezhetskiy
The arrival of a reliable game-changing blood test would be a watershed moment for millions who are affected by ME/CFS. This can increase the medical community’s awareness and understanding of the condition. As a result, millions of these patients will finally get the validation and effective treatment they need.