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My deadly disease was just a 23andme bug

516 点作者 mntmn超过 11 年前

25 条评论

IanDrake超过 11 年前
I&#x27;m surprised at the negativity here. There is nothing conclusive about this test and from what I&#x27;ve seen it does a pretty good job. So one guy got some bad indicators that proved to be nothing, who cares?<p>My father did 23 and me, without giving any family medical history and it concluded that my father was at a much higher risk factor for things that his mother was ultimately afflicted with. So, it works to some extent.<p>On the flip side, long story short, I had a CT scan done on my chest that checked out fine, but the doctor that reviewed it said I might have and unrelated problem - Patent Ductus Syndrome. Nothing heart surgery and a lifetime of supply of Coumadin couldn&#x27;t fix. A few months later I got an Echocardiogram which conclusively said the doctor was wrong.<p>Quick, stop doing CT scans!!!??? Are we&#x27;re all so afraid of our own shadow that heroes at the FDA need to protect us?
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tptacek超过 11 年前
Now consider that this is a marketing message that wants to have it both ways: it alerts clients to genetic &quot;risks&quot;, which are very likely to be subjected to secondary testing, but does not want to be liable for the accuracy of its negative results, which are very unlikely to be challenged.<p>It would be better if 23AM presented medical genomic information in a neutral way, with external links to descriptions of genomic variations but no assertion of diagnostic significance at all, or even a mention of how to obtain a diagnostically significant result.<p>Unfortunately, the way 23AM is packaged (see the website), they are incentivized to do the opposite; positive results are recognized by their clients as valuable, and, whether 23AM likes it or not, so are the negative results.
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kohanz超过 11 年前
The frustration directed towards the FDA in the 23andMe threads is not surprising, but short-sighted, IMHO. Sure, there are likely inefficiencies in the way the FDA operates, in a micro-sense, but in the macro-view, this sort of stuff <i>needs</i> to be regulated.<p>Many simple take-home tests that are arguably much more time-tested, reliable, and accurate than 23andMe&#x27;s DNA services are FDA-regulated. If your basic take-home pregnancy test is FDA regulated, why should 23andMe be exempt? Or would you prefer a world where all of these tests were unregulated?<p>Not everyone does their research. Not everyone is intelligent enough to understand the implications of medical tests, drugs, and devices - regulation protects the vulnerable among us.<p>As an aside, I&#x27;ve worked in medical devices for most of my career. All other things remaining equal, engineering teams in these companies are no different, talent-wise and quality-wise, than most teams you&#x27;d see in other industries. Take the sloppiest engineering team you&#x27;ve worked with, now imagine them working on a clinical product with the potential to cause real harm to people (physical or psychological).<p>It is the regulation (FDA and others) that ensures that these teams &quot;raise their quality game&quot;, so to speak. It is not perfect by any means, but I don&#x27;t dare imagine the alternative. Yes, the regulation is a massive pain. I experience it first-hand. It slows things down, has massive associated costs and can even stifle innovation. The general trade-off, however, is worth it, IMHO.
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sneak超过 11 年前
If I were to ever use 23andme, I&#x27;d use a fake name, a disposable mailing address, a fake email address, and never, ever discuss it with anyone.<p>Your genome doesn&#x27;t change, and who knows where that data leaks to later? Who knows what healthcare providers will vacuum up such leaks?<p>Who knows what kind of discriminatory practices will be undertaken by service providers, insurers, or even employers in the future?<p>Haven&#x27;t y&#x27;all ever watched Gattaca?!<p>Keep your private information private. Nobody else will do it for you.<p>EDIT: Oh, and USA PATRIOT too.
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zallarak超过 11 年前
23andme is a consumer genetic testing company. The testing is not meant to be clinically applied. I work for a company that is similar to 23andme, different in the sense that the test can be clinically applied; the catch is that everything you report must be very robustly researched and you must comply with more regulation (research, lab, medical, security, etc.) which drives up the cost but gives you much more actionable and medically relevant information.<p>I think there are benefits to both approaches of genetic testing; 23andme has a lot of data it collects and can do interesting statistical studies&#x2F;reporting that other more research-oriented companies cannot. However, like I said before, you can&#x27;t view a test like that as medically actionable. In the end though, the more testing there is (as long as the messaging is clear and consumers do their homework), the better oFf the world will be.
newnewnew超过 11 年前
Thank goodness there are thousands of people being paid to prevent me from spitting in a tube and getting noisy data about my own body! I should only be able to get data about my body after running a gauntlet of specialists with millions of dollars in total education, for my protection, of course.
rafeed超过 11 年前
I&#x27;d never want to get my DNA tested by a service like this. It may be cool, but there&#x27;s too many things at play here.<p><pre><code> - privacy - security of data - wrongful use of data - spread of misinformation - mind fucking that ensues after reading your results - probably a lot more </code></pre> The only benefit is for those who are so curious about what genes they carry, what mutations they have, and who they may or may not be related to. Really, why risk having your mind potentially fucked by knowing something about yourself that you&#x27;re not ready to handle yet?<p>Sorry if I seem overly critical about a service like this, but it just doesn&#x27;t seem worth it to me.
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kevrone超过 11 年前
Wow, this actually makes me pretty impressed with 23andme. Yeah, ok, maybe their analysis front-end is borked, but hell, the science seems pretty sound if he was able to get the &quot;right&quot; answer from the original sample.
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bparsons超过 11 年前
Seems like the problem was addressed immediately. This seems like a success story of 23andMe.
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jisaacso超过 11 年前
This will likely be downvoted to hell, but personally I&#x27;m a fan of the service 23andme provides. It has aggregated scientific knowledge across a large number of domains to provide an end-to-end pipeline for ancestry prediction, kinship analysis and phenotype prediction.<p>It&#x27;s a service built on learning algorithms to correlate features (DNA SNPs) with diseases. As with any learning algorithm, results should be interpreted with care. That doesn&#x27;t lessen the fact that predictions it provides can be helpful.<p>As an aside, 23andme has a solid API. It&#x27;s opened up (with consent) a huge DNA dataset for developers to mine. I&#x27;m excited for the science that can be learned from this data.
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robk超过 11 年前
For a hundred bucks, I&#x27;m quite pleased with the results I get. Of course if I was flagged for something serious I&#x27;d go to a doctor immediately to get it checked and verified.
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aabalkan超过 11 年前
Why your character encoding is broken on your blog post?
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clavalle超过 11 年前
Crazy idea: How about, instead of getting this report ourselves, we have it sent to our primary care physician.<p>That way we don&#x27;t have to stress that there is some likelihood that we might get some dreaded disease but our doctor could talk to us if the risk is high enough or if we start having symptoms that match one of our genetic risk factors?
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SwellJoe超过 11 年前
I love 23andme. I don&#x27;t make major medical decisions based on it (yet), and I know it has limitations (it didn&#x27;t predict the pancreatic cancer that killed my dad, and it didn&#x27;t find indicators for a number of other conditions in my family tree...). But, it&#x27;s a fun thing to play with, it has connected me up with a number of folks in my family tree that I didn&#x27;t know about, and it resolved some questions about the ancestry of my family. I&#x27;m an American mutt from poor white trash stock...no idea where everybody came from until 23andme. My sister had tried to do a family tree but ran out of steam just a couple of generations back.<p>Anyway, it&#x27;s probably good they&#x27;re being reined in from making medical claims. I don&#x27;t think the tech is quite there yet. But, as a tool alongside many others, it&#x27;s cool. And, I love that they&#x27;re doing original research with their surveys...it&#x27;s a super cool idea to combine lots of crowdsourced data and DNA results of thousands of people to find markers for diseases and traits.<p>I plan to keep recommending 23andme to folks who can afford it and folks who can grasp that a DNA test isn&#x27;t a reliable indicator of disease and that it is merely a probability indicator.
adeptus超过 11 年前
I&#x27;d love to use a service like 23andme, but am seriously concerned about privacy issues. Do they have any privacy conscious competitors? Any upcoming ones?
peter303超过 11 年前
Unexpressed disease genes has been an issue from the beginning of human sequencing. The 3rd human sequenced James Watson had almost 30 unexpressed disease genes, including retinitus pigmentosa. No one understands why this occurs.
coldskull超过 11 年前
Hypothetically, if i were in OP&#x27;s shoes and &#x27;really&#x27; scared, I would be going to a genetic doctor instead of conducting my own research. (i would still look up stuff, but that would be too risky to depend on)
gojomo超过 11 年前
Plenty of assessment errors occur via other forms of health research, self-diagnosis, and professional diagnosis, too. That&#x27;s why the more serious a result is, the more it should be examined and re-checked.<p>This incident seems to me like a big win for the 23andme model. They made an error – but followup by a single individual means the same error won&#x27;t happen again for anyone in their international clientele. Errors in other health systems don&#x27;t get globally corrected so quickly.
rohu1990超过 11 年前
What could have happened on rest of life, if this guy just believed their result ? This is how you can ruin life of some one by coding !
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patfla超过 11 年前
Hmm, a not irrevelant data point.<p><a href="http://allthingsd.com/20131125/fda-tells-23andme-to-stop-marketing-dna-kits-23andme-says-its-sorry-for-being-slow/" rel="nofollow">http:&#x2F;&#x2F;allthingsd.com&#x2F;20131125&#x2F;fda-tells-23andme-to-stop-mar...</a>
imahboob超过 11 年前
For more read this <a href="http://www.labcritics.com/2013/11/26/fda-asks-23andme-to-stop-its-services/" rel="nofollow">http:&#x2F;&#x2F;www.labcritics.com&#x2F;2013&#x2F;11&#x2F;26&#x2F;fda-asks-23andme-to-sto...</a>
ksk超过 11 年前
The potential of pharmaceutical companies pushing meds onto unsuspecting people using this data is really frightening. Hopefully 23andme wont turn into an advertising subsidized business.
JosephBrown超过 11 年前
You are a VERY good science writer btw.
pbhjpbhj超过 11 年前
I wonder what financial value is placed on their database and how well secured it is.
wissler超过 11 年前
It is good to know of real-world misdiagnoses made via 23andMe.<p>Now, can we see some real-world statistics by the government-licensed medical profession? I wonder what a side-by-side analysis of the errors 23andMe has made vs. those the medical community has made might look like. I wonder how the real-life consequences might stack up.<p>As far as I know, 23andMe has never accidentally amputated the wrong limb, so it&#x27;s at least go that going for it.<p>Interesting tidbit: you can always double-check the reports 23andMe gives to you by getting followup tests someplace else.
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