Scientists at the University of East Anglia and Oxford Biodynamics have developed a blood test to diagnose chronic fatigue syndrome which is 96% accurate.
Scientists at the University of East Anglia and Oxford Biodynamics have developed a blood test to diagnose chronic fatigue syndrome, also known as myalgic encephalomyelitis (ME), which they say is 96% accurate.
The team used EpiSwitch 3D Genomics technology from Oxford BioDynamics to see how DNA is folded in blood samples from 47 patients with severe ME and 61 healthy controls.
This approach using EpiSwitch has previously shown success in identifying disease-specific blood markers in highly complex inflammatory and neurological conditions such as fast amyotrophic lateral sclerosis, rheumatoid arthritis, and certain cancers. This includes the EpiSwitch PSE test, which is a blood test for prostate cancer already used in the UK and the US.
“ME is a serious and often disabling illness characterised by extreme fatigue that is not relieved by rest,” said lead researcher Dmitry Pshezhetskiy, professorial research fellow at the University of East Anglia’s Norwich Medical School.
“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. We wanted to see if we could develop a blood test to diagnose the condition – and we did!” he added.
A unique pattern
The team discovered a unique pattern that appears consistently in people with ME that is not seen in healthy people.
Using a different approach, this work looked beyond the linear DNA sequence investigated by a previously published DecodeME study, the largest genetic investigation of ME to date.
By examining 3D genomic folds, UEA and Oxford BioDynamics revealed hundreds of additional changes, including five of the eight sites identified by DecodeME, which can now provide a deeper understanding of the disease.
The analysis showed remarkable accuracy – with 92% sensitivity in identifying ME, which indicates how well the test identifies those who have the disease and 98% specificity, which indicates how well it identifies those who do not have the disease.
The researchers also found signs of immune system and inflammation pathways involved in the disease, which may help guide future treatments and identify patients more likely to respond to specific therapies.
The research was led by the University of East Anglia and Oxford BioDynamics in collaboration with the London School of Hygiene & Tropical Medicine and Royal Cornwall Hospitals NHS Trust.
