By David Tuller, DrPH
People with ME/CFS differ genetically from the general population, according to the long-awaited results of the largest biological study of the disease to date. By comparing DNA samples from more than 15,000 patients with ME/CFS diagnoses to samples from those who were not diagnosed, the investigators identified eight “genetic signals,” including ones relating to immune function after infection and to nervous system.
The results of the study, called DecodeME, were released by the University of Edinburgh yesterday in a pre-print version that has not yet been peer-reviewed. The findings immediately provided a jolt of hope among patients and advocates involved with ME/CFS. The mood represented a shift since July 22nd, when the UK government released an ME/CFS “Delivery Plan” that that was widely panned as merely a skeleton of a plan with little meat–or funding.
DecodeME launched a few years ago with a major outreach effort to encourage the submission of saliva samples. Large segments of the ME/CFS patient and advocacy communities strongly backed the project and have been eagerly anticipating the release of the findings.
The pre-print results received widespread coverage in the UK. Articles appeared in The Guardian, Financial Times, on the BBC, and elsewhere. Here’s Professor Chris Ponting, a geneticist at the University of Edinburgh and the study’s lead investigator, on the potential significance of the set of genetic markers identified, as quoted in Financial Times:
“These [genetic] signals align with how people with ME/CFS describe their illness…Highly targeted studies are now needed to understand why each of these eight signals is linked with ME/CFS so that we can move towards future diagnostics and treatments. It is a forgotten and forsaken disease that should have had a genetic study like this 15 years ago.”
The UK’s Medical Research Council (MRC) and National Institute for Health and Care Research [NIHR]* [In this sentence, I had previously omitted NIHR] jointly provided £3.2 million for DecodeME. In making the decision, perhaps some smart people at the MRC understood that it was a waste to spend, along with other government funders, £5 million on the the PACE trial boondoggle—a pet project of leading psychiatrists and others with an apparently limited understanding of appropriate and ethical approaches to conducting studies and reporting results. PACE purported to prove that cognitive behavior therapy and graded exercise therapy were curative treatments for ME/CFS. In reality, the reported results were fraudulent.
With Decode ME, some caveats are definitely in order. First and foremost, this work has not yet been vetted through the standard processes of scientific publishing. The peer-reviewed and published version is bound to differ from the pre-print in major or minor ways.
Second, findings like these offer clues to pursue further, not definitive answers. They will not lead directly to treatments. The results, if sustained, will hopefully trigger intensive efforts to examine the biological mechanisms influenced by these genetic markers and ways and identify targets of intervention with medication.
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Science Media Centre Weighs In
Not surprisingly, the so-called Science Media Centre in London, a stronghold of support for the biopsychosocial approach to complex conditions like ME/CFS, gave Professor Alan Carson an opportunity to vent some spleen.
Professor Carson is a neuropsychiatrist at the University of Edinburgh, an expert on functional neurological disorder, and a die-hard member of the biopsychosocial ideological brigades. In his comment, he refers to the illness as CFS/ME. This nomenclature fetish is widespread among Professor Carson’s ideological travellers. It is unclear why they feel the need to persist in this petulant form of resistance. Every time these folks use the phrase “CFS/ME,” it’s like they’re stamping their little feet in protest at how science is passing them by. It’s kind of sad.
In his comment, Professor Carson huffed something more or less along these lines: The findings most likely represent statistical noise due to uncertainties about the patient population; or if they don’t represent statistical noise, they’re meaningless because we’ve known for years that “CFS/ME” might have a genetic component; or if they’re not meaningless, they’re at least very modest, and similar genetic markers identified in other diseases haven’t led to tangible progress; or even if they might lead to some modest advance, any such development is aeons in the future.
Professor Carson’s smug tone speaks for itself. No one should take anything he says at face value.
Luckily, the SMC also invited two less biased observers to comment. (At some point, apparently, the SMC added a further comment from a third non-biased person–even better!) This balance is certainly an improvement. Years ago they might have invited, in addition to Professor Carson, mostly other biopsychosocial stalwarts. In this case, the other commenters offered positive assessments of the findings while also making appropriate cautionary points about the limitations.
Said Alena Pance, Senior Lecturer in Genetics, University of Hertfordshire:
“This study identifies some key potential areas for future study. It lays the groundwork for other researchers and pharmaceutical companies to follow, by identifying the areas to look at both for understanding the causes of ME/CFS and for developing new drugs to treat it.”
And Jackie Cliff, Senior Lecturer, Brunel University of London, said:
“It is very interesting to me, as an immunologist, to see that genes involved in the immune response have been identified: this will guide us to understand better the role of infection and the mechanism of disease-susceptibility…This study should stimulate vigorous research in the ME/CFS area.”
This is great news but it’s long overdue, as Professor Ponting indicated.
I suppose it’s too much to hope that individual doctors and/or the medical profession as a whole will now, or ever, apologize for the appalling harms and injustices that have been inflicted on ME sufferers over the past decades through medical gaslighting, neglect, the prescription of inappropriate treatments and therapies and the underfunding of good biomedical research into this debilitating disease. But perhaps it’s now time for those in the UK who have suffered so much to join together and demand that the UK Government and NHS apologize for that medical neglect, discrimination and abuse and commit to fully funding vigorous research so that no more time is wasted in finding treatments that will aid recovery instead of causing harm.
Thanks for the link to the video giving an overview of the UK Government’s delivery plan. I’d missed that and it was very useful.