A groundbreaking development in the diagnosis of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) has emerged from a collaborative research project between the University of East Anglia (UEA) and Oxford BioDynamics. These scientists have successfully engineered a blood test with remarkable accuracy to diagnose ME/CFS, a complex and debilitating illness that affects millions worldwide and has long evaded reliable diagnostic techniques. The blood test reportedly achieves a diagnostic accuracy of 96 percent, offering new hope to patients who often experience protracted misdiagnosis or dismissal of their symptoms.
ME/CFS, characterized by profound and persistent fatigue not alleviated by rest, significantly impairs quality of life. Despite its prevalence, including over 400,000 known cases in the United Kingdom alone, the condition has remained poorly understood in clinical settings due to the absence of definitive diagnostic markers. Patients frequently report skepticism from healthcare professionals and delays in receiving appropriate care, exacerbating the burden of this chronic illness.
Professor Dmitry Pshezhetskiy from UEA’s Norwich Medical School, who led the study, emphasized the pressing need for objective diagnostic tools. He explained that the new test could fundamentally alter the clinical approach to ME/CFS by providing a tangible biomarker for diagnosis. Early and accurate identification could enable timely interventions, personalized management strategies, and reduce the psychological toll on patients who are often stigmatized or dismissed.
The innovative blood test leverages Oxford BioDynamics’ proprietary EpiSwitch® 3D Genomics platform. This advanced technology interrogates the three-dimensional folding patterns of DNA within blood cells. While our genetic code is linear and fixed, the spatial configuration of the genome—the epigenome—modulates gene activity dynamically, responding to environmental and physiological cues. By analyzing these complex 3D genomic structures, researchers can identify epigenetic markers indicative of disease states.
In this study, blood samples from 47 individuals diagnosed with severe ME/CFS and 61 healthy controls were subjected to comprehensive EpiSwitch® analysis. This approach revealed distinctive and reproducible DNA folding signatures exclusive to ME/CFS patients, forming the basis for the test’s diagnostic criteria. The epigenetic markers identified are not embedded in the genetic code itself but reflect regulatory changes that influence immune function and inflammatory pathways implicated in ME/CFS pathology.
Alexandre Akoulitchev, Chief Scientific Officer at Oxford BioDynamics, highlighted that ME/CFS is fundamentally an acquired condition rather than a congenital genetic disorder. Therefore, detecting dynamic epigenetic changes is superior to traditional genetic screening for diagnosis. The EpiSwitch® platform’s capability to dissect precise 3D genomic alterations enables rapid and scalable diagnostic assessments, distinguishing it from other blood test modalities.
Significantly, the test demonstrated 92 percent sensitivity, meaning it reliably identified individuals with ME/CFS, and an impressive 98 percent specificity, effectively excluding individuals without the disease. This high degree of accuracy surpasses existing diagnostic methods, which rely heavily on symptom-based criteria and often lead to false positives or negatives. Such precision paves the way for confident clinical decision-making and personalized patient management.
Beyond diagnostic utility, the analysis unearthed molecular insights into the biological pathways active in ME/CFS. The researchers pinpointed disruptions in immune system regulation and chronic inflammatory responses, consistent with the hypothesized immunological underpinnings of the illness. These findings not only enhance understanding of ME/CFS but also suggest potential targets for therapeutic intervention and patient stratification according to molecular profiles.
The implications of this research extend into the emergent field of post-viral syndromes, particularly long Covid. ME/CFS-like symptom clusters have been observed following SARS-CoV-2 infection, often termed post-Covid syndrome. The researchers propose that the EpiSwitch® test framework could be adapted to detect similar epigenetic signatures in long Covid patients, facilitating early diagnosis and tailored treatment approaches in this expanding clinical challenge.
Historically, Oxford BioDynamics’ EpiSwitch® technology has proven successful in identifying disease-specific biomarkers in other complex conditions, including rapidly progressing neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS), autoimmune diseases like rheumatoid arthritis, and various cancers. Notably, the EpiSwitch® PSE test for prostate cancer has already achieved global recognition for its diagnostic accuracy, underscoring the platform’s broad applicability and clinical impact.
This breakthrough represents a paradigm shift in ME/CFS research and clinical practice, transcending traditional genetic analyses such as the DecodeME initiative. While DecodeME focused on linear genomic sequencing to uncover hereditary risk loci, the current work pioneers a complementary approach by mapping dynamic 3D genomic structures, uncovering hundreds of additional disease-associated changes. This integrated genomic and epigenomic perspective promises more comprehensive disease characterization.
The study’s authors advocate for the integration of the EpiSwitch® CFS blood test into routine clinical diagnostic protocols for ME/CFS, offering a tool that is both practical and scalable within healthcare systems. This advance is poised to reduce diagnostic delays, increase patient validation, and foster development of targeted therapeutics, heralding a new era in the management of this challenging chronic disease.
Published in the esteemed Journal of Translational Medicine, this research exemplifies the power of cutting-edge genomic technologies to unravel complex disease mechanisms and translate bench-side discoveries into clinical innovations. It signals hope to millions grappling with ME/CFS and lays foundational work towards addressing the diagnostic voids that have long confounded patients and clinicians alike.
The research was a concerted effort by UEA, Oxford BioDynamics, the London School of Hygiene & Tropical Medicine, and the Royal Cornwall Hospitals NHS Trust. Their collective expertise and technological innovation have delivered a much-needed, objective diagnostic instrument that promises to transform patient outcomes and stimulate further investigation into the molecular biology of ME/CFS and long Covid.
Subject of Research: Human tissue samples
Article Title: ‘Development and validation of blood-based diagnostic biomarkers for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) using EpiSwitch® 3-dimensional genomic regulatory immuno-genetic profiling’
News Publication Date: 8-Oct-2025
Web References: https://www.94percent.com/
References: DecodeME genetic study on ME/CFS
Keywords: COVID 19, Diseases and disorders, Clinical medicine, Medical diagnosis, Medical tests
