Amatica Patient-centred chronic disease research

Jonathan Edwards said:
But usefully? Doctors often think they are making decisions for reasons that they are not making for those reasons. I wrote a paper on that once for X-rays.
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I can't comment on that really. I don't know how clinically useful these are found to be.

I would assume they should be since they predict onset of worsened conditions. But when you deal with treating conditions before you get them, the test comes out as valuable at a population level.
 
Peter T said:
I may be missing the point, but I just glanced through the review article on metabolomics and did not see any studies relating to ME/CFS?
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That study isn't specific for ME/CFS, but there are studies that are.

For example, this study, https://www.pnas.org/doi/10.1073/pnas.1607571113, has one example of two possible groups, male vs female.

These two charts from that study shows how metabolites in males and females vary, and I would imagine that remedies for them would be different.
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Do you think it would be a good idea to find out why some pwME/CFS benefit from a drug and some people are made worse.

Do you have any ideas about how to figure that out?
 
Jonathan Edwards said:
Has that ever worked?
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There is one now getting clinically implemented for endometriosis in Australia using a plasma proteomics panel I believe. I always ask people this same question, Jonathan, so I know where you are coming from. I am generally skeptical for all the same reasons (systematic confounders etc) but I guess for endo they had large enough symptomatic control cohorts (with endo ruled out) that they are confident in the utility of the measurements
 
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For those who have given Amatica money and samples already, did you do so believing that the results they would supply would be of use? Were the results actually of practical use to you? Or did you do so on the basis of wanting to donate to their business model and getting the results were a bonus?

Looking at their Terms and Conditions, they say (in part),
2.2 For Informational Purposes Only: All results provided by Amatica are for informational purposes only and are not intended to diagnose, treat, cure, or prevent any disease. You acknowledge and agree that any results provided must be discussed with a licensed healthcare provider to determine an appropriate course of action.

2.3 Sample Quality: As samples may be submitted from various jurisdictions outside the United Kingdom, Amatica does not guarantee the quality or suitability of the samples received. The accuracy of results may be affected by the quality of the sample provided, for which Amatica accepts no liability.

2.4 No Medical Advice: Amatica does not provide medical advice, and the Services are not a substitute for consultation with a licensed medical professional.
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I understand that anybody who found their results useful will have a different opinion but I just feel that this is just a business being built by taking advantage of patients desperation.
 
Andy said:
For those who have given Amatica money and samples already, did you do so believing that the results they would supply would be of use? Were the results actually of practical use to you? Or did you do so on the basis of wanting to donate to their business model and getting the results were a bonus?

Looking at their Terms and Conditions, they say (in part),

I understand that anybody who found their results useful will have a different opinion but I just feel that this is just a business being built by taking advantage of patients desperation.
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I think that any company offering direct-to-consumer sequencing must state that the test is for informational purposes only and does not constitute medical advice?.. At the same time, Jack’s tweets use virtually the opposite pitch as a primary selling point: “Want to identify your subgroup or understand why certain medications aren’t working? Take our test.”

Regardless, prior to purchasing, I already viewed those claims and promotional angles as overhyped. I bought the test simply hoping it might offer at least some clues.

Before this, I went through a series of evaluations at the UCLH Autonomic Unit. Despite objective findings of anhidrosis, pupillary mydriasis in response to light, near-complete gastrointestinal paralysis, and treatment-resistant insomnia, the clinical summary was reduced to ‘cholinergic dysfunction’ rather than cholinergic failure. It was framed as mild to moderate, and predictably physiotherapy was recommended (I am bedridden). I was than tossed to a different doctor again a year ago and still haven’t got the necessary biopsy. Following such an inadequate response from the NHS, turning to exploratory testing was an attempt to find some clarity.

ETA: I believe it is unethical to sell this test on the premise that it will get you any closer to fixing your post COVID issues.
 
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They seem well meaning and not in it for a fast buck - I watched their interview with Cort Johnson and didn't smell bullshit, at least not intentionally, from them. Whether it's the right approach remains to be seen - I'm not sure how that data is likely to help in any way. A friend of mine is a neuroscientist at King's who works on RNA regarding dementia (this is as far as my knowledge extends), might ask them to take a look at Amatica's work and see what they think...
 
I have a bunch heterozygous and compound heterozygous rare gene variants but no doctor is interested because usually the disease linked is child onset or it is such a rare variant that there is not much data on that specific SNP.. In general there is very little knowledge about adult onset disease caused by genetic variants and how those versions of the disease present.

I often wonder if an RNA test is useful to see if the changes seen in WGS also show up in RNA and how much those levels differ from others who have taken the test.

Even if the RNA test can produce somewhat reliable tests that match over 2 or 3 tests for this use case I doubt any doctor would do anything with that data.

As for metabolomics - I agree with @MelbME. If the sample has been handled correctly (many studies are not) and you see an individual with outliers from multiple time point samples a researcher can engage with a doctor to order clinical tests to validate it.

The problem right now is that in the field of ME/CFS there is a disconnect between researchers and clinical practice so that step in these two cases is not happening.
 
Andy said:
but I just feel that this is just a business being built by taking advantage of patients desperation.
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I disagree. Critiquing initiatives like this so harshly is completely counterproductive to the interests of the community. The alternative for severe is another year in bed with no study we can join. We can understand the uncertainty and still choose to contribute.

Expose misleading claims and challenge weak methods. But uncertainty and a profit motive do not, by themselves, establish exploitation.

The same with ChronicleBio (https://s4me.info/threads/chroniclebio.45577/) which is pursuing a similar approach in the US. Patient organisations could push these projects towards collaboration and independent validation. I would rather see our community help make these efforts useful than dismiss participation as desperation.
 
I got into an argument on X about this topic and came to s4me to gut check my own points and biases. So far I don’t see anything that changes my position, which is that I support Amatica, but I welcome any critiques. I'll try to summarize what I view as the main questions and my personal opinions on those questions:
  • Is for-profit and/or pay-to-participate research ethical? Like Jack, I lean a bit to the Libertarian side on this particular topic. So long as marketing is not fraudulent/misleading, disclaimers are made, and patients are adequately informed about the risks/costs/benefits/etc., I think pay-to-participate research can be ethical in both non-profit and for-profit settings. I would point to the SACHRP’s own recommendations on this topic, which conclude that “SACHRP does not recommend a default presumption against pay-to-participate trials” and that certain circumstances, such as diseases/studies where it is difficult to obtain funding, may be ethical if it is in pursuit of “worthwhile research.” Notably, this SACHRP position is in relation to clinical trials of drugs, which pose a much greater ethical threat to desperate patients than the sort of mechanistic research that Amatica is doing.
  • To that end, is Amatica’s research approach “worthwhile”? I see two main critiques being discussed:
    • 1) Questionnaire phenotype data (diagnoses, symptoms, etc.) is worthless because you don’t have the ability to make sure the patient is telling the truth and actually has ME/CFS. I would pushback on this in two ways. First, 23andMe is an example of a company that used the same self-reported survey approach to collecting diagnoses and successfully replicated genomic findings from other academic studies. This proves that this methodology, while perhaps imperfect compared to rigorously screening all participants, can work. Second, I would argue that this issue is pervasive across all ME/CFS studies, even those that require a clinical diagnosis. To act as though a doctor’s diagnosis is iron-clad ignores everything we know about this disease, which includes that getting a diagnosis is as much a function of the patient’s personality, socioeconomic position, intelligence, etc. as their actual symptoms.
    • 2) RNA data is too noisy to be useful. On this, I mostly agree. From what I’ve gathered, there are some transcripts that are quite stable, but most display more variation between two samples of the same individual than between two different individuals. On its own, RNA is extremely unlikely to be able to correlate with diagnoses/symptoms or tell us anything meaningful about this disease. With that being said, this ignores Amatica’s larger vision, which is to include proteomics, metabolomics, genomics, and more. Does RNA analysis become “worthwhile” when it is part of a larger tapestry of biomedical data? Maybe, I don’t know. However, there are a few recent studies that have taken a very similar approach, including the 2024 NIH deep phenotyping study and the 2025 multi-omics BioMapAI study. I don’t know what this forum’s opinions are of those studies, but they seem to have produced some meaningful insights. So, I do think that Amatica’s overall vision is “worthwhile research” and thus worthy of ethical leniency.
  • Has Amatica’s marketing misled or exploited desperate patients? I do think there have been some instances of this, and I strongly dislike it, but it’s not enough for me to label the whole operation as unethical or scammy. Their website says stuff like "understand your biology today" and "your unprecedent insight" - I do think these kinds of statements are misleading relative to Amatica’s current capabilities and ethically wrong, but let’s also acknowledge that they make lots of disclaimers that the research is exploratory, research participation is optional, this test is not diagnostic, etc. On the whole, I would categorize their marketing/messaging as optimistic and sales-y (which is the point of marketing after all) and would prefer them to tone it down, but I don't think it's fraudulent, deceptive, or unethical in aggregate.
  • Last point, which is not something I see being discussed but seems important to me, is to point out that what they’ve achieved with limited resources and on a short time scale (they began offering RNA testing in July 2025) is pretty impressive. Their “preprint” from July 2026 included 149 patients and 85 healthy controls, so assuming the patients paid $1300 (I don't believe HCs paid anything), they accomplished this all with 149 * 1300 = ~$194K + the in-kind costs of the unpaid Amatica labor. (I know they used to offer proteomics but I’m ignoring that money given it didn’t directly impact their research). The NIH deep phenotyping study cost $8M and took 8 years, and the multi-omics BioMapAI study was part of an $11M research grant (though the study-specific cost was not disclosed) and took 4 years. To make a fair assessment of whether Amatica’s research is worthwhile, you need to put it into context of their resources to date, both time and money, and be willing to look ahead to what they might accomplish in years down the line with proper funding.

I'm just a desperate patient who is happy to see smart, seemingly well-intentioned people working on this disease. I bought the RNA test knowing full well it would not tell me how to get better and thought of it partially as a donation to research. Many other patients have said the same thing. I'd be happy for Jack and Nick to both get filthy rich if they do end up making outsized contributions to research.
 
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