Hunter, Ewan, Alshaker, Heba, Bundock, Oliver et al. · Journal of translational medicine · 2025 · DOI
Researchers developed a new blood test called EpiSwitch®CFS that may help diagnose ME/CFS by detecting specific patterns in how DNA is organized in blood cells. When tested on stored blood samples from 47 ME/CFS patients and 61 healthy people, the test correctly identified 92% of ME/CFS patients and correctly ruled out 98% of healthy controls. This could potentially help doctors diagnose ME/CFS more reliably, since there is currently no standard blood test for the condition.
ME/CFS currently lacks objective diagnostic criteria, leading to delayed diagnosis and mismanagement. A validated blood biomarker could enable earlier detection, reduce diagnostic uncertainty, and potentially identify patient subgroups likely to respond to specific therapies like rituximab or glatiramer acetate. This work provides preliminary evidence that epigenetic profiling may bridge the diagnostic gap in ME/CFS.
This retrospective study does not establish that chromosome conformations cause ME/CFS—they may be markers of disease rather than drivers. The findings require prospective validation in independent, diverse patient populations before clinical implementation. High sensitivity/specificity in a retrospective cohort does not guarantee equivalent performance in real-world clinical settings with varied disease presentations.
About the PEM badge: “PEM required” means post-exertional malaise was an explicit required diagnostic criterion for participant inclusion in this study — not that PEM was studied, observed, or discussed. Studies using criteria that do not require PEM (e.g. Fukuda, Oxford) are tagged “PEM not required”. How the atlas works →
The first block is for the primary paper and is the citation you should use in research work. The atlas-snapshot line only applies if you are specifically referring to this atlas’s reading of the paper on the date shown.
Primary citation
Hunter, Ewan, Alshaker, Heba, Bundock, Oliver, Weston, Cicely, Bautista, Shekinah, Gebregzabhar, Abel, et al. (2025). Development and validation of blood-based diagnostic biomarkers for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) using EpiSwitch<sup>®</sup> 3-dimensional genomic regulatory immuno-genetic profiling.. Journal of translational medicine. https://doi.org/10.1186/s12967-025-07203-w
BibTeX
@article{mecfsatlas-hunter-2025-development-validation,
author = {Hunter, Ewan and Alshaker, Heba and Bundock, Oliver and Weston, Cicely and Bautista, Shekinah and Gebregzabhar, Abel and Virdi, Anya and Croxford, Joseph and Dring, Ann and Powell, Ryan and Vugrinec, Dominik and Kingdon, Caroline and Wilson, Carol and Dowrick, Sarah and Green, Jayne and Akoulitchev, Alexandre and Pchejetski, Dmitri},
title = {Development and validation of blood-based diagnostic biomarkers for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) using EpiSwitch<sup>®</sup> 3-dimensional genomic regulatory immuno-genetic profiling.},
journal = {Journal of translational medicine},
year = {2025},
doi = {10.1186/s12967-025-07203-w},
note = {PubMed: 41057909},
url = {https://www.mecfsatlas.com/evidence/hunter-2025-development-validation},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-29. https://www.mecfsatlas.com/evidence/hunter-2025-development-validation
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