At-home medical tests are an awful lot like astrology.
June 17, 2019 7:46 AM   Subscribe

Mail-in diagnostic testing lacks the rigor and accuracy of actual medical testing. The results can be inaccurate and misleading even when true, as they lack context. Science and astrology are often seen as opposite poles... The implication is that anything making a scientific claim, like a medical test, should not be as squishy as astrology. Yet the same thing that drives some people toward astrology drives others toward mail-in test kits: People want to learn more about themselves and make sense of why they are the way they are. Your life might be fine, but perhaps it could be better if you understand yourself on a deeper level.

One such company Ubiome has shuttered under a cloud, and had it's offices raided by the FBI. And of course, everyone remembers Theranos which while not a personal genomics testing company, did promise to "disrupt" testing in a similar way, and crashed and burned under the weight of it's founders hubris. (Previously)(Previously-er)

The up-shot?
Personalized genetic readings can still be fun, even if they don’t promise the sun, moon, and stars; genomics company Helix sells, alongside some dubious-sounding tests, personalized DNA clothing, tote bags, couch throws, and artwork. But if you’re really concerned about your fertility, your gut health, or your cancer risk? If you wouldn’t consult your horoscope, you might not want to consult a mail-in test either.
posted by Homo neanderthalensis (30 comments total) 16 users marked this as a favorite
Even with DNA tests, there have been a lot of candidate gene studies which got positive results for something-or-another but which later turned out to have effectively random results (boosted by publication bias) because they were massively underpowered. With a few notable exceptions, most genetic variations have a tiny effect.
posted by clawsoon at 8:13 AM on June 17 [3 favorites]

One of these companies has a commercial that pretty much sums it up. A woman gives her testimonial that she went to several doctors and they all said she didn't have a certain problem, but this at home test agreed with her, so clearly it was right and the doctors are wrong.
posted by tofu_crouton at 8:43 AM on June 17 [4 favorites]

One of these companies has a commercial that pretty much sums it up.

The problem with that specific commercial (I haven't seen it, so I'm going by your admittedly brief description) is that this extremely accurately portrays the personal medical experiences of every single woman I know who has ever had a medical issue more complicated than a visible open wound. Probably every single woman on earth is familiar with the experience of going to the doctor with what they think is a pretty obvious case of whatever and having the doctor say "it's because you're fat" or "you're overreacting" or some other demeaning and dismissive non-answer.

I can't decide if that commercial was made by a man who hates women or a woman who hates doctors.
posted by poffin boffin at 8:55 AM on June 17 [57 favorites]

Yeah, that commercial was well crafted and most likely based on the lived experience of thousands of women in this country. Its a good commercial in the service of a shitty shitty company that most likely isn't going to help women either, but clearly the money they spent on ads was well spent.
posted by Homo neanderthalensis at 8:59 AM on June 17 [12 favorites]

It isn't just at-home diagnostic testing. There's an epidemic of overdiagnosis in the US, most of it originating in doctors' offices. Disease-named organizations fuel the whole problem.
posted by Kirth Gerson at 9:43 AM on June 17 [1 favorite]

It’s a bell curve I think. There’s a tendency on one end for some doctors to over-diagnose and over-test either for insurance purposes or because they want to cover their asses in case someone does have a condition and sues- and then on the other end you have (largely female and non-white) patients who have every symptom in the book and go to the doctor and get “it’s all in your head eat better” and then years later finally get a diagnosis. And of course sadly sometimes (a lot of times) they can die or be seriously disabled by the time anyone takes them seriously. So there’s a few angles these companies are exploiting.
posted by Homo neanderthalensis at 9:47 AM on June 17 [6 favorites]

A woman gives her testimonial that she went to several doctors and they all said she didn't have a certain problem, but this at home test agreed with her, so clearly it was right and the doctors are wrong.

Those ads are orthorexia snuff porn.
posted by praemunire at 11:57 AM on June 17 [3 favorites]

[A few things removed; let's focus more on the actual links and that direct subject and avoid veering off into more general doctor-patient diagnostic dynamics, which is its whole own thing and something we've discussed a bunch in the past.]
posted by cortex (staff) at 12:12 PM on June 17 [1 favorite]

I have to say that the “tests” referenced in the article really don’t count as medical tests in any meaningful sense. Compare them to say, home pregnancy tests, or glucose monitoring, or any number of other FDA approved actual medical tests, and you will see that the real tests actually work quite well for their intended purpose. Also you will note that the actual tests are somewhat limited in their indications and don’t claim to do more than give you a specific result to be used in specific ways.

And don’t get me started on Theranos. I have watched the amount of blood needed for diagnostic tests decrease significantly over the last 30 years or so, so their basic sales pitch wasn’t so much revolutionary as just a continuation of existing trends. But on top of that, smaller samples are more prone to contamination (among other things); at the sizes they were describing even a few microliters of alcohol prep solution from the skin skin could screw things up.
posted by TedW at 12:23 PM on June 17

I get that some at-home diagnostic tests just aren't very good, and their marketing may be bordering on predatory. But I think that's a cry for some consumer-protection regulation, to ensure that the tests do what they say they do, not just eliminating the tests or pushing them behind the moats and walls of the medical profession.

The healthcare system in the US is a failure, full stop. It's a flaming dumpster fire of awfulness that kills people and is broadly unavailable to huge swaths of the population. So, given that—and, yes, we need to fix it, but it sure ain't getting fixed very quickly, so right now it is what it is—if you make a test only available with a prescription, or only available in a doctor's office, it might as well not exist to many people.

While that might be an acceptable tradeoff in the case of some tests that are so inaccurate, or require so many follow-up tests to be actionable, that they are not useful on their own, there are tests that are certainly helpful, and could perhaps prompt someone who might not go to a doctor.

Nuking the entire field of at-home testing as a concept, which is what some people in the medical profession appear to want to do (along with WebMD and Google generally, and sometimes I think if they could just outlaw reading by anyone without an M.D. they'd do that too), does a disservice to patients and to the public.

Professional gatekeepers suck; we should be working towards educating the public and protecting consumers against shoddy products, but there has to be some middle ground that doesn't just say "you're all too fucking stupid to understand this stuff, so we're not going to let you have it, trust us, we're doctors". Whatever trust the public might have had for MDs, collectively and as a profession, expired when the AMA started acting like a supply cartel rather than advocating in the interests of the public. I trust doctors as a profession to do what's good for doctors as a profession, and that obviously means they're going to try to eliminate the ability of the public to do anything vaguely 'medical' without a $300 visit and a prescription first.
posted by Kadin2048 at 12:32 PM on June 17 [11 favorites]

There's a very interesting recent article in STAT which shows just how much an informed and intelligent patient who was getting nothing but the runaround from her doctors was able to accomplish with the aid of a simple home medical test:
Genomicist Lauren Petersen has been racing mountain bikes since she was 14 years old. But throughout her teens she battled chronic Lyme disease, suffering recurring bouts of illness that sometimes kept her off her wheels. “I’d feel like crap for a month or two, and then the antibiotics would make me feel like crap, and then I’d rebound a little bit and be okay for a while,” she recalls. “It was continuous peaks and valleys.”

For seven years, Petersen’s doctors prescribed her a barrage of antibiotics. In 2003, at age 21, she took two or three broad-spectrum antibiotics at a time for an entire year, a regimen that she says seemed to finally kick the Lyme. But she wasn’t well. “Even when I wasn’t sick anymore, I had chronic fatigue and bad stomach issues.”

She saw several doctors about her issues, but all the tests probing her immune system, liver function, and more came back normal. It wasn’t until she was studying pathogenic bacteria as a PhD student at the University of New Hampshire that she started hearing about the microbiome, and how it might affect health—and how antibiotics can kill the good bacteria in the body along with the bad. “It kind of rang a bell,” says Petersen, thinking back to the many courses of antibiotics she had endured. “I thought, ‘Wow, maybe there’s something wrong with my microbiome.’”

In 2013, she attended a Gordon Research Conference where microbiome researcher Rob Knight of the University of California, San Diego (UCSD), gave a talk about the American Gut Project, which invites people to send in stool samples for analysis. The project combines data from those samples with the participants’ answers to survey questions about disease history, lifestyle, diet, and more, to determine the most important factors in shaping a person’s microbiome. “As soon as Rob got there and gave his spiel, and said, ‘Get your own microbiome sequenced for $89,’ I signed right up.”

Petersen recalls the test results she got back later that year: “I had a horrible microbiome—very, very bad.” All those years on antibiotics, she says, “I had no idea that essentially my entire gut microbiome was being wiped out.” Not only did she lack many of the beneficial bacteria commonly harbored by people without symptoms of disease, but the results also showed that her gut had been colonized by several pathogenic strains that she’d worked with in her lab.

Petersen determined a fecal transplant was the way to restore a healthy microbiome. But because she wasn’t infected with a nasty pathogen called Clostridium difficile, for which fecal transplant had become accepted therapy, she couldn’t find a doctor who would agree to do the procedure. So in February 2014, with the support of her family, she recruited a donor and did it herself. “I just did it at home. It’s not fun, but it’s pretty basic. It costs like six bucks to do.” (The $6 being for the drugstore enema kit.)

The do-it-yourself solution worked. “Within two months I was a new person,” Petersen says. “I had no more fatigue. I could ride my bike hard three days in a row, no problem.” She started racing four months after her fecal transplant, and was winning races at the pro level soon after that. “Everything changed,” Petersen says.
posted by jamjam at 1:27 PM on June 17 [8 favorites]

All of these services have business models that rely on seeking rent on your data in predatory and creepy ways, and none of them use particularly valid models that can be defensibly described as 'diagnostic,' but wow has this space moved towards open bullshit super fast. A lot of this seems to be the health-themed grifters of Silicon Valley coming to the same conclusion that Mao did in the 40s when he realized that, after all the grift and lies, he had nothing of any real medical value to offer the people of China. It turns out that, no, you can't really make revolutionary medicines with a collection of marketing majors and undergraduate dropouts who were too entitled to gain any real expertise. However, Mao's realization was that maybe the real goal of medicine didn't necessarily have to have anything to do with curing illness, improving quality of life, or even keeping people in the labor force.

TCM was thus created almost out of whole cloth with entirely different goals, centered around soothing desperate people and creating social harmony. Perhaps the core goals of medicine are really no different under economic systems that aren't Maoist, and Mao just had the insight to see it? Indeed, both insurers under purely capitalist systems and Ministries of Health in social democracies have remarkably little pressure to do anything other than make people happy with cheap bullshit other than the pressure that comes from the kinds of experts like doctors that we're having a harder and harder time listening to. Hell, even this thread can't seem to tolerate hearing from the one poster to show up with relevant actual expertise in medical diagnostics.

Experts can't save us from ourselves, if we really want to throw $40 at bullshit artists who tell us that their 10 cent bottle of magic vitamin C pills will cure everything that ails us, the FDA can't stop us. If we would really prefer that the wonders of the Human Genome Project be used to make us pay for the privilege of being fraudulently advertised overpriced wine rather than things like understanding cancers and our place in the biome, thats what we're going to get.
posted by Blasdelb at 1:37 PM on June 17 [4 favorites]

Petersen determined a fecal transplant was the way to restore a healthy microbiome. But because she wasn’t infected with a nasty pathogen called Clostridium difficile, for which fecal transplant had become accepted therapy, she couldn’t find a doctor who would agree to do the procedure. So in February 2014, with the support of her family, she recruited a donor and did it herself. “I just did it at home. It’s not fun, but it’s pretty basic. It costs like six bucks to do.” (The $6 being for the drugstore enema kit.)
jamjam, were you not at all inclined to wonder why the physicians and the FDA might not be totally on board with this kind of thing? This journalist sure didn't seem to. The American Gut is a cool project but it is certainly not capable of establishing the etiology of a disease state, much less something remotely resembling a companion in vitro diagnostic capable of directing evidence-based treatment. Just how poorly we understand the fire that she played with has few real parallels in modern medicine. What FMT represents is real control over the microbiome, something we know is extraordinarily powerful, but lack even the most basic of comprehension as to how.

For example, we know that the gut microbiome is critical component of all manner of aspects of cognition in humans and animals, from personality to intelligence to mood and anxiety to social behavior, but we really have fuck all in the way of ideas as to how. Indeed, you can make crafty, cautious, misanthropic, and anxious Balb/c mice act like dumb, trusting, and cuddly NIH Swiss mice, and vice versa, by switching out their poop with mouse FMT. Are we, right now, blindly doing the same thing with people? We also now know that Parkinsons, and likely other neurological disorders, likely mediated at least in part by gut microbiome composition. Are we spreading those disorders? We have no idea. There is almost no real oversight and there is precious little in the way of evidence to address these questions.

At the moment FMT is an Investigational New Drug (IND) that is functionally not subject to almost any of the rules for INDs. This means that patients are being treated despite us having no real answers to even the clearly inadequate array of huge safety questions we can think to ask. It also means that the patients being treated do not have the protections of clinical trial regulation, data from their treatments is for the most part going uncollected, and the kinds of physicians who lack the professional competence to even fill out an IND application with CBER are taking money directly from patients' pockets. The last thing we need is for these guys to be set comeletely loose to peddle their fecal wares without any thought to the safety or efficacy of their treaments.

This current state of affairs has been entirely justifiable given the state of the field, the extraordinary amount of evidence for efficacy, and the desperate straights of C. diff patients - but this post-doc's path is a terrifying road to drag the rest of us down. Maybe the experts really do have some idea of what they're doing?
posted by Blasdelb at 2:12 PM on June 17 [13 favorites]

Nuking the entire field of at-home testing as a concept, which is what some people in the medical profession appear to want to do (along with WebMD and Google generally, and sometimes I think if they could just outlaw reading by anyone without an M.D. they'd do that too), does a disservice to patients and to the public.

I don't know how you read an article like this and think, "oh, this field just needs a little light regulation around the edges and it'll be fine, scared people will totally not be taken advantage of and lied to and exploited in other ways (like data harvesting) by this industry."

I feel like sometimes I'm banging my head against the wall trying to move Mefi off these nice middle-class assumptions that, after all, those businesses aren't really going to lie to us or hurt people or corrupt the system to let them get away with it.
posted by praemunire at 2:23 PM on June 17 [8 favorites]

It is a dangerous path, Blasdelb.

What I really expected you come back with was the very recent suspension of at least some fecal transplants because two immunocompromised patients died because they received fecal transplants that included beta lactamase capable (penicillin resistant) bacteria.

I'll look for a link.
posted by jamjam at 2:31 PM on June 17 [5 favorites]

Here it is.
posted by jamjam at 2:37 PM on June 17 [3 favorites]

jamjam, that "informed and intelligent" patient was being treated for years for a disease that does not exist (chronic Lyme disease*) in a way that actually caused the problem she was treated for with the faecal transplant (chronic broad spectrum antibiotic use), so i don't think it's a straightforward victory for citizen science.

* People with "chronic lyme" have a real medical issue, but it is not chronic borrellia infection, and I do not think they are well served by people who treat them for that, see above this person who was made ill by years of antibiotics.
posted by chiquitita at 5:33 PM on June 17 [9 favorites]

To be clear: I'm fine nuking the businesses via regulation, by crushing their predatory business models—particularly the data-harvesting bits, and perhaps also their ability to advertise anything that's not backed up firmly with data. Absolutely, beat them with the big stick 'o regulation. But I think there needs to be a very careful line drawn between the businesses, which are shady AF, and the tests themselves, which may be useful.

It's the line between well-meaning consumer protection, and the sclerotic remnants of 19th century paternalism that are still rampant in US healthcare.

What I am concerned is going to happen is that the equally-predatory (less bald-facedly, but probably more perniciously, and more deadly) conventional healthcare industry is going to use this as an opportunity to "help" the public by getting the tests made prescription-only, so it becomes one more potentially-useful tool lost behind the walls of mandatory-yet-useless office visits, high copays, opaque pricing, and impermeable patents.
posted by Kadin2048 at 7:38 PM on June 17 [2 favorites]

Yes "Chronic Lyme Disease" is a fake diagnosis not a fake disease as this article in Science Based Medicine goes over: Chronic Lyme disease: Fake diagnosis, not fake disease
Believe it or not, an encounter on Twitter actually changed Dr. Gorski’s mind. Chronic Lyme disease is a fake diagnosis, not a fake disease.
The comments section have some real life examples in addition to the article itself.
posted by RuvaBlue at 8:48 PM on June 17 [4 favorites]

Thanks for the point about the terminology, I'll try to use that term from now on. (Worth noting that the "change of mind" referred to in the headline is about the way of how we discuss people who are victims of this kind of medical misadventure, not the scientific basis of same).
posted by chiquitita at 9:56 PM on June 17

jamjam, that "informed and intelligent" patient was being treated for years for a disease that does not exist (chronic Lyme disease*) in a way that actually caused the problem she was treated for with the faecal transplant (chronic broad spectrum antibiotic use), so i don't think it's a straightforward victory for citizen science

* People with "chronic lyme" have a real medical issue, but it is not chronic borrellia infection...

I think you are dead wrong about Lyme disease, chiquita:
A new study from researchers at the Johns Hopkins Bloomberg School of Public Health found that a slow-growing variant form of Lyme bacteria caused severe symptoms in a mouse model. The slow-growing variant form of Lyme bacteria, according to the researchers, may account for the persistent symptoms seen in ten to twenty percent of Lyme patients that are not cured by the current Lyme antibiotic treatment.

The study, published March 28 in Discovery Medicine, also found that these "persister" Lyme bacteria were resistant to standard single-antibiotic Lyme treatments currently used to treat Lyme patients, while a three-antibiotic cocktail eradicated the Lyme bacteria in the mouse model.

For their study, the scientists isolated slow-growth forms of the Lyme bacterium, Borrelia burgdorferi. They found that, compared to normal fast-growth forms, the slow-growing forms caused more severe arthritis-like symptoms and resisted standard antibiotic treatment in test tube as well as in a mouse model. The scientists found that a combination of three antibiotics—daptomycin, doxycycline and ceftriaxone—cleared the Lyme infection in the study mice. The scientists now hope to test the combination in people with persistent Lyme disease.
It would be interesting to compare the 3 antibiotic cocktail Lauren Petersen's doctors used with the one the Johns Hopkins study used.
posted by jamjam at 10:03 PM on June 17

Chronic Lyme does not exist Jamjam. In this study what they are talking about is a persistent acute lyme disease that was not killed by the standard drug cocktail, so another, more effective, time limited course of antibiotics was used. In the case of "chronic Lyme" quack doctors prescribe long term open-ended antibiotics courses which are far far more dangerous to the body then a time limited course of antibiotics. A quack diagnosed me with "chronic lyme" when I was a kid. My mother wisely got a second opinion, my real diagnosis, received many years later, was autism. Chronic Lyme is sometimes pushed as a diagnosis for children with behavioral problems, by doctors exploiting parents who want their to be other reasons for their children's illnesses. Or it's pushed as an explanation for the real issues suffered by women with thyroid issues, since endocrinology is a discipline with somewhat patchy coverage across the states. (Some areas of the country do not have many endocrine doctors for example.) There is no such thing as Chronic lyme, only sick patients and quack doctors.
posted by Homo neanderthalensis at 11:29 PM on June 17 [4 favorites]

Allow me to quote the final paragraphs of the article I link to, Homo neanderthalensis:
There is a lot of excitement in the field, because we now have not only a plausible explanation but also a potential solution for patients who suffer from persistent Lyme disease symptoms despite standard single-antibiotic treatment," says study senior author Ying Zhang, MD, Ph.D., professor in the Department of Molecular Microbiology and Immunology at the Bloomberg School.

Lyme disease afflicts about 300,000 people in the United States every year. It is caused by Borrelia bacteria that live inside common species of ticks and are transmitted to humans by tick bites. Treatment with a single antibiotic—either doxycycline, amoxicillin or cefuroxime—for two to four weeks clears infection and resolves symptoms in most patients. However, some 10 to 20 percent of Lyme patients who are treated continue to suffer persistent symptoms including fatigue, muscle and joint aches, and brain fog that can six months or longer.

This post-treatment Lyme disease syndrome has been controversial among many doctors, in part because studies of these patients usually have failed to show that Borrelia bacteria can be cultured from their blood, especially after treatment—a standard method for revealing the presence of an infection or relapse. However, Borrelia, like many bacteria, can switch under low-nutrient conditions or other stresses from their normal fast-growth mode to variant forms as in "stationary phase" with little or no growth.

Studies also have hinted that these stationary-phase variants can be killed with the right drugs. Research by Zhang and colleagues has shown that a combination of daptomycin, doxycycline and cefoperazone reliably kills cultures of B. burgdorferi that include stationary-phase variant forms.

In this new study, Zhang and colleagues grew stationary-phase B. burgdorferi and isolated two distinct no-growth forms, called microcolony and planktonic forms. They confirmed that these forms are resistant to standard antibiotics such as doxycycline and even two-drug combinations used for treating Lyme disease. They also showed that these stationary-phase forms, compared to normal-growing spiral forms of B. burgdorferi, cause worse Lyme disease-like symptoms in mice—chiefly inflammation and joint-swelling. However, treating these mice with the combination of daptomycin, doxycycline and ceftriaxone effectively eradicated the infection.

"A lot of physicians have been wanting to do clinical trials of antibiotic combinations in post- treatment Lyme disease syndrome patients, and now we have results in animals that support the idea of such trials," Zhang says.

He and his colleagues are making plans for their own trial of the persister drug combination against post-treatment Lyme disease syndrome. They note that the idea of persister bacteria causing severe and persistent infections with varying susceptibilities to different drugs might apply to other infectious diseases in which symptoms sometimes persist, despite standard treatment.[my emphasis]
These Johns Hopkins researchers clearly believe that a substantial part of the "10 to 20 percent" of Lyme patients who continue to have symptoms after treatment do in fact, contrary to majority medical opinion, have persistent Borrelia bacteria in their systems, and that those bacteria are causing their symptoms, and that their research strongly supports, but does not yet demonstrate this conclusion.

That's their next step, and I think they will be successful — and that many of these patients will then be owed a humble apology by a multitude of physicians who have dismissed their accounts of their illnesses and mocked their suffering. An apology which I doubt very much they will ever receive under any circumstances.

You are welcome to draw your own conclusions, of course.
posted by jamjam at 12:14 AM on June 18

jamjam, I recognize these authors from their more obviously crank essential oil themed papers that make the media rounds. In those previous papers, you need to never forget when that, when someone tells you that their thing kills something on a plate in a lab, so does a handgun. Being able to kill things is trivial, bleach and bullets do that just fine, what is hard is finding compounds that kill the target while leaving our cells alone. Unlike lead therapy, antibiotics are compounds that can be used to treat bacterial disease by taking advantage of differences between bacteria and us. They do this by inhibiting processes that happen in bacterial cells but not human cells, like how bacterial ribosomes make proteins with machines that are shaped pretty different from ours, and work by acting as a monkey wrench that sabotages theirs but doesn't fit into ours. There are also some other important antibiotics that target things like differences in DNA synthesis, membrane synthesis, central metabolism, and a few others. They are essentially a selective toxin, poisoning bacteria and not us, but unfortunately there is a depressingly short list of differences between us and the bacteria that ail us to attack.

While this group showed in their previous paper that their oil kills this bacteria at a specific concentration, they presented no evidence of any kind that it is more toxic to Borrelia at this concentration than it is to our cells, while maintaining a public pretense that they had done something amazing. Essential oils tend to be pretty extraordinarily toxic to human tissues and delivering them to Lyme disease patients in the systematic way that would be needed would obviously be no less fatal than a well aimed bullet. The authors make a short song and dance at the end of their more recent essential oil article about wanting to search for potentially non-toxic components within the essential oil that could hypothetically carry the activity. However, despite the silly amounts of precious grant funding that has been invested into efforts like this over the last three decades, none of them ever pan out into viable therapeutics.

In this case they are breathlessly demonstrating what has been known since the connection between Borrelia and Lyme arthritis was made in the 70s, which they do incidentally without citing that older work. The metabolic variation that is inherent to Borrelia is why the standard treatment is both so unusually intensive and so unusually long, even though doxycycline is so aweful for patients. These cranks aren't telling us anything in this paper that is simultaneously new and relevant to the question of what causes post-treatment Lyme disease syndrome. However there are a lot of very good reasons to believe that post-treatment Lyme disease syndrome is not caused by persistant Borrelia, even aside from the utter lack of evidence establishing that Borrelia can persist under the standard treatment regimen. The symptoms that have been described by real physicians treating patients with post-treatment Lyme disease syndrome are pretty exclusively consistent with the persistant neurological damage we already know to be associated with Borrelia infection, there isn't really a mystery that would need to be solved by this massive leap. These are bullshit artists taking money from industry associations rather than their peers at the NIH that we're talking about, not scientists working in the public interest.

Fuckers like this can get money from physicians defrauding vulnerable patients to support the fraud with legitimate seeming bullshit for the same reasons why these companies can sell bullshit that is at best indistinguishable from fraud to at home consumers. Understanding incredibly complex things like diagnostics is hard, and requires real work, but it seems to be getting easier and easier to convince people that all this work is unnecessary. We now have a whole ecosystem of, generally either liberal or conservative themed, excuses to believe ourselves more qualified to understand a whole array of complex topics better than the experts who dedicate their lives to studying them.
posted by Blasdelb at 1:05 AM on June 18 [9 favorites]

I read the original paper in discovery medicine, and I am cautious until it is replicated by another research group. For such a breakthrough, it is odd that it was published open-access, in a journal that is basically sponsored by the authors' institution (John's Hopkins) - conflict of interest.

It is odd that they've published the in vitro and mouse studies together, it makes for a very untidy paper and one is skeptical that they're trying to over-egg otherwise tenuous or non-reproducible findings. They've got so many data points! Really, they should have made this about 4 separate papers and tried to get clear results in each.

And the project is supported by Lyme interest groups, which is sometimes unavoidable in niche trials, but always good to keep in mind during appraisal - conflict of interest.

I'm not a lab microbiologist so I can't appraise a lot of the detail, but there are a few red flags for me about the veracity of this research. I await for it to be reproduced.
posted by chiquitita at 3:59 AM on June 18 [2 favorites]

— and that many of these patients will then be owed a humble apology by a multitude of physicians who have dismissed their accounts of their illnesses and mocked their suffering.

No one here is mocking suffering, they are angry that quack doctors are scamming sick patients into believing they have a non-existent disease and treating them with dangerous drugs. If you read my comment you would understand that people with real conditions are being told they have chronic Lyme and are being poisoned with antibiotics, which also means their real conditions aren't being treated. It's a hole I almost fell into due to unscrupulous MDs.
posted by Homo neanderthalensis at 7:25 AM on June 18 [6 favorites]

I don’t have anything specific to add but I’ve really appreciated reading this discussion so far.
posted by brilliantine at 7:52 AM on June 18

I recently had an experience where my "psychiatrist" (who is an NP who just prescribes me antidepressants) suggested this genetic test that supposedly looks for "gene-drug interactions", supposedly to indicate which drugs will be more or less effective, or have more or fewer side effects. My insurance covered it, so, whatever, why not. The results came back in a thick packet; every single sentence contained the word "may". Or something else fudgey like that. "Associated with," "difficult to predict," "potential interaction," etc. There were some pages of more specific genetic information which my NP clearly did not understand. (obviously neither did I.)

on the last page there was a bit about "this genotype is associated with reduced folic acid metabolism, moderately decreased serum folate levels, and moderately increased homocysteine levels." Coincidentally I had test results from the week before showing normal folic acid levels.

That test isn't going to become more useful if it's made available on the consumer market, and it won't be more helpful if it's limited to doctors who may or may not understand it, because it's actually just a shitty unhelpful test.

On the other hand, there are lots of at-home/mail-in tests that are considered accurate and trustworthy - paternity tests, pregnancy tests, lead tests, water quality, etc. These things can be a scam in the same way anything else can be a scam. But the science is fundamentally well-understood and rigorous; and the tests tell you something clear and definitive and helpful.

That's just not true when it comes to genetics and phenotypes. My gene test was very clear in saying I had this gene and that gene and heterozygous for this other thing, but what that means is murky and uncertain at best.
posted by Rainbo Vagrant at 1:31 PM on June 18 [3 favorites]

Those gullible consumers, trusting their data to some corporation just so they can find out if their caffeine jitters come from Aunt Hilda, or their love of opera is inherited from Uncle John, or they have a mutation that gives them an 80 percent chance of getting breast cancer and no insurance company is going to cover the test even though they're at increased risk because of Jewish ancestry. Maybe Slate could do a follow-up on whether my Color Genomics test was just a fun personalized experience that helped me make sense of myself, or if the negative result was actually accurate enough to let me relax about the BRCA threat.
posted by Ralston McTodd at 4:35 PM on June 18

That sort of genomic testing is most certainly not the sort of genomic testing referred to in the article.
posted by Homo neanderthalensis at 7:31 PM on June 18

« Older The 2020 census is coming.   |   The Bread-Roll’s Path into Socialism Newer »

This thread has been archived and is closed to new comments