Scientists from the University of East Anglia, in collaboration with Oxford BioDynamics and other institutions, have developed the first blood test capable of diagnosing chronic fatigue syndrome (CFS) or ME with 96% accuracy, potentially transforming how the disease is diagnosed and managed.

This innovative test analyzes DNA folding patterns using the EpiSwitch 3D Genomics technology, identifying a unique epigenetic signature in ME/CFS patients that extends beyond traditional genetic studies.

The study involved 47 patients with severe symptoms and 61 healthy controls, revealing hundreds of disease-related epigenetic changes, including five sites identified in previous genetic research.

The research highlights that ME/CFS is characterized by epigenetic changes, which are more reliably detected through dynamic 3D genomic alterations than by genetic sequencing alone.

Further insights from the study point to immune system dysregulation and chronic inflammation pathways involved in ME/CFS, offering potential targets for future therapies and patient stratification.

The EpiSwitch technology has previously proven successful in identifying biomarkers for other complex diseases like ALS, rheumatoid arthritis, and prostate cancer, demonstrating its broad clinical utility.

Experts emphasize the need for further validation through larger, independent studies to confirm the test’s reliability across different disease stages and populations, considering factors like age and sex.

While the test shows promising accuracy, concerns remain about its estimated cost of around £1,000, which could limit accessibility, and the necessity for thorough validation before it can be adopted in clinical practice.

There is also a need to confirm whether the identified epigenetic markers are consistent across various stages of ME/CFS and in other diseases with similar symptoms to prevent misdiagnosis.

The findings, published in the Journal of Translational Medicine, underscore the potential of advanced genomic technologies to revolutionize the diagnosis and management of complex diseases like ME/CFS and long Covid.

Lead researcher Prof. Dmitry Pshezhetskiy highlights that this simple blood test could enable earlier diagnosis, better management, and address issues of misdiagnosis and stigma faced by patients, ultimately supporting more personalized care.

The research also suggests that the EpiSwitch platform could be adapted to detect similar epigenetic signatures in long Covid patients, aiding early diagnosis and personalized treatment approaches.