Scientists at the University of East Anglia and Oxford BioDynamics say a blood test using 3D genomics identified myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) with 96% accuracy in a small, retrospective study published in the Journal of Translational Medicine. The team adds the approach may also inform diagnosis of some long Covid cases, though further validation is needed.
Chronic fatigue syndrome, or ME/CFS, is a debilitating illness marked by profound, non‑restorative fatigue and post‑exertional malaise. Recent analyses suggest roughly 404,000 people may be living with ME/CFS in England, while U.S. public‑health data estimate up to 3.3 million Americans are affected—underscoring the need for better diagnostic tools. (bmcpublichealth.biomedcentral.com)
In a proof‑of‑concept study, researchers used Oxford BioDynamics’ EpiSwitch 3D genomics platform to examine how DNA folds inside cells, identifying an epigenetic signature in blood linked to ME/CFS. The team analyzed samples from 47 people with severe ME/CFS and 61 healthy controls, building a 200‑marker model that, in an independent validation cohort, delivered 92% sensitivity and 98% specificity—an overall diagnostic accuracy of 96%. The findings were published October 8, 2025, in the Journal of Translational Medicine. (dx.doi.org)
Lead investigator Dmitri Pchejetski of UEA’s Norwich Medical School said many patients have long faced doubt or misdiagnosis due to the lack of definitive tests, adding that the work points to the potential for a simple confirmatory blood test. Alexandre Akoulitchev, chief scientific officer at Oxford BioDynamics, emphasized that the test targets epigenetic, not genetic, markers—changes that can occur over a person’s lifetime. (sciencedaily.com)
Beyond performance, pathway analyses in the study highlighted immune involvement—including interleukins, TNF‑α, toll‑like receptor signaling, neuroinflammatory pathways, and JAK/STAT—potentially opening routes to targeted therapies. The collaboration included The London School of Hygiene & Tropical Medicine and Royal Cornwall Hospitals NHS Trust. (dx.doi.org)
The authors note their work complements recent large‑scale genetics research. DecodeME—a genome‑wide association study released as a medRxiv preprint in August 2025—reported eight genomic regions linked to ME/CFS risk. UEA’s release adds that their 3D‑genomic markers overlapped with five of those regions, an assertion made in the university’s public materials and awaiting independent confirmation. (sciety.org)
Experts not involved in the study welcomed the progress but urged caution, citing the modest sample size, the focus on severe disease, and the need to test against conditions with similar symptoms before any clinical rollout. They also called for independent, prospective validation in broader patient groups. (theguardian.com)
The researchers say the same approach could help identify long Covid in some patients with ME/CFS‑like symptoms. At the same time, early genetic findings from DecodeME indicate no clear genetic overlap between ME/CFS and long Covid, underscoring how much remains to be learned about these conditions. (sciencedaily.com)
The study’s authors describe their assay as an early step toward more precise diagnosis and, potentially, personalized care. Larger, independent studies will be needed to confirm how well the test performs across the full spectrum of ME/CFS and in routine clinical settings. (dx.doi.org)