> So one guy got some bad indicators that proved to be nothing, who cares?
The people who get incorrect results and who then go and do things based on those results - don't have children or do have surgery or etc.
> Quick, stop doing CT scans
You have a CT scan when there's something wrong and you need a diagnosis. Pre-emptive CT scans are not recommended. That's because there's so much stuff that might show up but which is totally harmless. But, because you've seen it now you need to do something about it, and those tests carry some risk. Just the stress of "shadows" is considerable. See, for example, CT scans that show rubella scarring, which is something the patient would not know about until they get the CT scan.
It sounds like you misunderstand the 23andMe service. TESTS aren't conducted "through the internet" they're conducted in the 23andMe lab by analyzing your saliva and hence your DNA. Your RESULTS are available "through the internet", which is the equivalent of a clinic emailing you the results of your blood tests.
I think it's fair to question the validity of their technology (if the Illumina chips and matching algos are doing their job), but that's a different argument.
The technology actually isn't in question here; Illumina has entirely earned its preeminence in the field of DNA sequencing. That part of 23andme's process can be trivially duplicated in any sequencing lab, including the one a hundred feet thataway from where I'm sitting right now. Merely sequencing a genome and identifying SNPs is as close to a solved problem as anything in the explosively emerging field of bioinformatics.
What's in question is the validity of 23andme's analysis, and that's an entirely different matter. Bioinformatics is, again, an emerging science -- expanding at an amazing rate, to be sure, and full of enormous promise for the improvement of human health overall, but nonetheless still in its nascency. Treating bioinformatic analysis as an established part of medicine, to the extent of making "highly confident" (23andme's words, not mine) predictions of future medical concerns based on analysis of a relative handful of SNPs, strikes me as flagrantly optimistic at the very best, and potentially verging upon fraudulence at the worst.
That's the FDA's concern, and if anything it is only reinforced by the OP's experience. Were 23andme's analysis and predictions anywhere near the level of reliability the company claims on their behalf, it would not be necessary for one of their customers, having been terrified half out of his mind by the results of 23andme's analysis of his genome, to develop sufficient understanding of sequence analysis to replicate their process and identify their error.
Yup. It's a Sisyphean task. You can't protect a person from themselves.
The FDA should focus on requiring disclosure of relevant information and the accuracy of that information, rather than guaranteeing safety or making value judgments.
>The people who get incorrect results and who then go and...
From a $100 test? I hope not. In my father's case, he wears sun block now. What he didn't do was run out and have every mole on his body removed because he's at greater risk of Melenoma.
>Just the stress of "shadows" is considerable.
I lived with that stress for a few months. I'll admit it was in the back of my mind, but I was fine.
Afterwards I was telling a friend about the ordeal and he actually said "Man, is there anything worse than being told you have something terrible wrong with you, living with that, then finding out it was a false alarm". Uhm, yeah. How about finding out it wasn't?
Look at Morgellon's; Mercury Chelation; Anti-vaccination; etc etc etc.
There are very many people willing to sell tests, and very many people happy to sell quack cures based on those tests. (I'm not saying that 23andMe are quacks!)
> "Man, is there anything worse than being told you have something terrible wrong with you, living with that, then finding out it was a false alarm". Uhm, yeah. How about finding out it wasn't?
That's happened to a few people. You get told you're HIV+ (in the late 90s, when this means it's a death sentence.) You lose your job (because people are arseholes), you stop showing your 8 year old son affection (because you're scared of the infection), you have unprotected sex with people with HIV (you're already +, so what does it matter?) and then you get told that there was a mistake with the original test and you're actually negative.
> That's because there's so much stuff that might show up but which is totally harmless.
I've heard this argument but I don't buy it - not at all. I consider it better to know than to be ignorant.
If everyone has something that looks like rubella scarring, why is something that looks like rubella scarring considered worthy of investigation?
If the risk of something worse justifies investigation, then it's better to know from the CT scan so that you can have it properly investigated. If there's no such risk, then no problem.
> If the risk of something worse justifies investigation, then it's better to know from the CT scan so that you can have it properly investigated. If there's no such risk, then no problem.
But the "risk" only exists because of the CT scan, which is returning junk data.
Because a doctor has seen the junk scan, has seen the shadows on the junk scan, they now have to recommend follow up scans to rule out any disease. That subjects the patient to risk - hospitals are not safe places to be in. (Hospital acquired infections kill many people! Clinician errors kill many people! Traffic accidents getting to hospital kill many people!) Just being worried about the tests is going to cause a deterioration in most people's lives. And there's zero benefit for almost all of those people.
Forgive me for being mathematical in order to make my point:
My hypothesis is that having more information cannot result in a worse average outcome, given a rational response to the information (correctly accounting for relative risk). As a doctor, I do not have to recommend follow up scans if the cost is greater than the benefit, but I should still seek to use the information from those once they've been done.
I suggest that the above holds true even if there is some known chance that the information is junk.
To put it more simply, early intervention is always better.
> My hypothesis is that having more information cannot result in a worse average outcome, given a rational response to the information
Rational response to shadows on the lung in a CT scan is more scanning and more testing. The results of the further tests carry a risk. The benefits are zero for anyone without a disease, and low for anyone with a disease. That's a worse than average outcome for almost everyone taking those extra un-needed tests.
> No, early intervention is not always better.
There are many men who've had traumatic treatment for prostate cancer because of the results of early intervention style treatments. Many of those men would have died with, not of, prostate cancer. Thus, their lives have suffered because of a rational response to an early intervention.
We treat a doctor who doesn't order an x-ray (say) to investigate a possible symptom and thereby misses something important far worse than we treat a doctor who orders an unnecessary x-ray and thereby increases the patient's lifetime cancer risk - even when the former action was objectively better for the patient (that is, the life expectancy of the patient is higher in the no x-ray condition).
The people who get incorrect results and who then go and do things based on those results - don't have children or do have surgery or etc.
> Quick, stop doing CT scans
You have a CT scan when there's something wrong and you need a diagnosis. Pre-emptive CT scans are not recommended. That's because there's so much stuff that might show up but which is totally harmless. But, because you've seen it now you need to do something about it, and those tests carry some risk. Just the stress of "shadows" is considerable. See, for example, CT scans that show rubella scarring, which is something the patient would not know about until they get the CT scan.