Development and validation of blood-based diagnostic biomarkers for [ME/CFS] using EpiSwitch®… 2025, Hunter et al. (Oxford Biodynamics)

[duncan]

Are there examples of good diagnostic tests for other aquired syndromes? I get what Jonathan is saying about not having a 'ground truth', but I can certainly see a scenario where a clinical test could be part of diagnosis.

Andersen-Tawil Syndrome, a channelopathy, is confirmed by testing for the KCNJ2 genetic marker.

ATS has several clinical features that are fairly hard to miss, but they are missed regularly by competent physicians, and at the expense of the patient. Why? Probabilities. Clinicians are taught that ATS is exceedingly rare; most believe that there's little chance a case will fall under their lamp.

Thank God for the biomarker test. Validation can come at several different levels. Certainly for both the patient and the clinician. But also for planning purposes if a syndrome is inheritable - which ATS is. The test impacts the patient and the patient's children, and their children.

 

[Jonathan Edwards]

Andersen-Tawil Syndrome, a channelopathy, is confirmed by testing for the KCNJ2 genetic marker.

Again, ATS is no longer a syndrome. It is now defined as a channelopathy. The test presumably indicates the biological basis of the channelopathy.

If you have no idea what the biological basis for a syndrome is, or whether there are six, the situation is different. Nobody is questioning the value of tests that document a biological abnormality that you can attribute symptoms to.

 

[duncan]

Again, ATS is no longer a syndrome. It is now defined as a channelopathy. The test presumably indicates the biological basis of the channelopathy.

If you have no idea what the biological basis for a syndrome is, or whether there are six, the situation is different. Nobody is questioning the value of tests that document a biological abnormality that you can attribute symptoms to.

I appreciate the point you are trying to make, but I'm not sure how it applies in the real world. Even though the KCNJ2 gene mutation and its relation to ATS were discovered back around 2000, and even though ATS is indeed a channelopathy, it is nevertheless still referred to as a syndrome, and even at times by its old name of a form of periodic paralysis.

Moreover, my understanding is that now there are TWO forms of ATS recognized - ATS1 and ATS2 - where the former is confirmed through the KCNJ2 marker, and the latter through clinical presentation only (i.e. absence of genetic marker).

 

[Sly Saint]

Academics have made a ‘breakthrough’ in the diagnosis of myalgic encephalomyelitis, also known as chronic fatigue syndrome

Academics have made a “breakthrough” in the diagnosis of myalgic encephalomyelitis, also known as chronic fatigue syndrome (ME/CFS), by developing the first-ever blood test for the condition.

ME/CFS is currently diagnosed solely on symptoms, often leading to many patients going undiagnosed for years.

While this development offers hope, other experts have called for more studies to confirm the findings.
“ME/CFS is a serious and often disabling illness characterised by extreme fatigue that is not relieved by rest,” said lead researcher Professor Dmitry Pshezhetskiy, from the University of East Anglia’s (UEA) 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.

“Our discovery offers the potential for a simple, accurate blood test to help confirm a diagnosis, which could lead to earlier support and more effective management.”

Scientists led by experts from UEA and Oxford Biodynamics (OBD) set out to examine how DNA is folded in patients diagnosed with the condition, which might provide tell-tale signs of ME/CFS.
Using OBD’s EpiSwitch 3D Genomics technology, they looked at blood samples from 47 patients with severe ME/CFS and 61 healthy adults.


The team discovered a unique pattern that appears consistently in people with ME/CFS that is not seen in healthy people, enabling them to develop the test.

Writing in the Journal of Translational Medicine, experts said the test has a sensitivity – or the likelihood of a test being positive if that patient has the condition – of 92 per cent.

‘Breakthrough’ as scientists develop first-ever test for debilitating condition

Academics have made a ‘breakthrough’ in the diagnosis of myalgic encephalomyelitis, also known as chronic fatigue syndrome

www.independent.co.uk

eta: sky news

Scientists hail breakthrough test for chronic fatigue syndrome​

MSN

eta:
Dr Charles Shepherd, medical adviser for the ME Association, explained that more work needs to be done.

"We need to know whether the abnormality is consistently present in the very early stages of ME/CFS as well as in people with longstanding disease who have mild or moderate ME/CFS," he explained. He also wants to see the test checked against other conditions that cause similar symptoms.

Professor Chris Ponting from the University of Edinburgh went further, calling some of the research team's claims "premature".

He insisted the test needs proper validation through better-designed independent studies before doctors can start using it.

There's another concern that could put the brakes on this breakthrough - the price tag.

Professor Ponting estimates the test could cost around £1,000, which might make it too expensive for widespread NHS use.

MSN

 

[rvallee]

This study doesn't warrant all this media attention. Wonder if the SMC is to blame for pushing this?

In some way, though, I think it probably answers a very valid question in a recent thread about how will people even know if there is a scientific breakthrough paving the way to a solution.

Probably a similar reason why fraudulent claims of psychobehavioral therapies improving outcomes get so gullibly parroted as fact: there is a deep hunger for answers here. Any answers. Even fake ones. So far, especially fake ones. But one thing there isn't as far as figuring out the cause and producing a solution is indifference to a real solution, it will not go ignored. We'll know if something big hits the moment it's public.

I am obviously biased in favor of what it would mean for us, but I'm fairly sure anything that figures us out will be a sort of skeleton key to open up all sorts of blocked paths all over medicine. It is one of the hardest problem the discipline faces, and other than PEM, I very much doubt that it wouldn't explain all sorts of similar but unrelated things.