I was so excited when 23andMe dropped their prices to $99 a few years ago and immediately gave myself a 'Christmas Present' and bought a 23andMe kit.
I seriously thought this was the future. I was so excited to see my health information.
It was really cool to see that my spit could confirm that I'm 1/2 asian and 1/2 european. Also, I found it interesting that I have more neanderthal DNA than 99% of people who took the 23andMe test.
Other than that, all the things I've seen are marginally useful at best.
I log into my account once a year or so when I get an email from 23andMe. I understand these things take a lot of time, but I think a lot of the initial users aren't so ready to tell everyone that they need to sign up for a testing kit. I think people were so much more interested in it years ago.
Yes, the restriction is on marketing products to diagnose, treat, etc. Once you've bought the product, the FDA doesn't prohibit the seller from continuing to provide service (and, to the extent that they contracted to provide the service, stopping providing the service could leave them liable to the purchaser.)
You can always export your raw data from 23andMe and plug it into third party (and I guess foreign) services that will give you some health info. Of course you should probably approach the results with some skepticism. I know someone who found out she had a gene that causes an early and very aggressive cancer and now can take pre-emptive measures that quite likely will save her life.
> I know someone who found out she had a gene that causes an early and very aggressive cancer and now can take pre-emptive measures that quite likely will save her life.
Do you mind if I ask what service she used for this?
Not sure what the poster above used but I personally was faced with the same issue. I got my raw data from 23me and used https://www.promethease.com/. I think you can do it for free yourself with the desktop version http://www.snpedia.com/index.php/Promethease/Desktop but it takes longer anyway I found some useful information from it but it's to be take with a grain of salt
I believe she used promethease.com as the other commenter mentioned (which is what I used too). She took the result to the doctor and they did a more thorough test for that specific gene to confirm (which is probably advisable with any serious/negative result before panic).
It is very likely that someone finding this information would have been able to discover it by looking at their family tree. Serious genetic diseases do have a small de novo rate but by and large are already there just being passed down
For one people used to die a lot younger, many genetic defects will only kill an older, weaker human.
For two the environment is different, e.g. many more cancerogens in and around us. Just have a look at the cancer rates. A middle aged man in US today has a 70% chance of getting cancer during his lifetime.
The op said a friend discovered they had a genetic mutation that lead to an increased risk of cancer.
There are several conditions that do this: multiple endocrine neoplasia (types 1 and 2), li fraumeni syndrome (a p53 mutation), familial adenomatous polyposis (apc mutation), hereditary non-polyposis colorectal cancer and a handful of others.
All of these present with strong family histories. In fact, patients with APC mutations often have cancer before their 30s. Yet have been successfully passing on this mutation for generations now.
If you do not have defective copies of the above (or a small subset of mutations of other regulatory and proto-oncogenes) then you have no greater chance of developing cancer than the next person, lifestyle and virus exposure factors not withstanding.
Now I really don't think you have any idea what you're talking about because your two points are at odds with each other: you first state that we are living longer, and defects 'will kill older, weaker humans'. Bullshit.
Your next point, that cancer rates are higher now than at some indeterminate point in the past, is also bullshit and out of context: if we are living longer, then of course we are going to get cancer. But this has no bearing on our genetic susceptibility to cancer over a certain age. In fact, there are no known genetic mutations that predispose to cancer later in life; all the syndromes predispose to cancer early.
I can only suppose you are trolling very hard, and hence hiding behind 'anon1mous'
I didn't realize you could get the raw data. I looked a bit on their website and didn't find anything indicating you can. What format(s) will they export?
The FDA put a stop to crowd-DNA research via the 23AM law suit. Prior to the lawsuit 23AM had a large user base completing questionnaires effectively mapping health risks, traits and allergies to genes. Not sure what the Food and Drug administration has to do with my genes other than regulatory overreach.
This is not correct. They put a stop to 23&Me. There is still plenty of crowd-DNA research going on; for example, my genome and some medical information is online via GCG.
It has to do with the FDA protecting the public from crappy medical devices and drugs.
IF you want to sell a genetic test, you need to prove to the FDA: (1) that your test is accurate and reproducible, (2) that whatever conclusion you draw from the test is scientifically sound.
The issue was that 23&Me was saying "you have this SNP, that means your risk of X is increased by Y%". The test, the result and the conclusion is not based on a rigorous testing. Hell, some of the risk associated with SNPs is coincidental at best.
That said, I'm fine if people want that info anyways, but 23&Me would need to add a disclaimer that says "Your genetic test results and the risks attributed to them may or may not be accurate."
>It has to do with the FDA protecting the public from crappy medical devices and drugs.
Which devices and drugs were 23&Me selling? I thought it was just crowd-sourced information about traits.
Think how ridiculous it would be if the FDA just shut down a crowd-sourced database about trait correlations. But suddenly when a company like 23&Me correlates the two, it becomes pure, concentrated evil that must be subject to regulation.
23&Me was using a medical test to give users data regarding their risks of certain diseases without sufficiently proving to the FDA that that data was accurate.
It's not a stretch to imagine someone acting on that information with potentially dangerous results; taking extra unneeded supplements, having elective surgery, dramatically changing their lifestyle to reduce the risk of some condition, etc.
I'm so happy the FDA was there to prevent this company from doing the things with my genetic information that I asked them to do. Thank god for government.
Well to be fair, you can also ask a snake oil salesman for his snake oil, but there's a reason we regulate these things. The first users might be high information, but once something starts to get popular, people start making bad decisions. You can argue that people can ask for whatever they want (and they can) but whether you can sell anything you want has long precedent, especially in health related areas where misleading information leads to dramatic decisions being made.
And, to be fair, the reason the FDA came into existence was because companies used to sell things that would seriously injure or kill you, and because there were no regulations they wouldn't advise you of the risks. Caveat Emptor doesn't help you if you have no way to become informed in the first place.
Nobody prevented me from having Illumina sequence my genome (they gave me a hard drive with all the files along with medical interpretation).
The difference is that Illumina did things legally (including hiring clinical genetics analysts who pored over the details and made a number of calls about what was significant).
23&Me did not. They were doing something that they would have known was illegal. The FDA explained this to them, and 23&Me blew them off. Failing to respond to an accusation from the government is an amateur move and 23&Me deserved what they got. They only went back and negotiated afterwards.
You're complaining the government was restricting your freedoms but we have more than adequate evidence that 23&Me was acting irresponsibly.
Out of interest, did you use the "TruGenome Predisposition Screen" offering? (Just looked up Illumina: I've been interested, but the 23&Me pricing/privacy concerns squicked me out)
Thanks for the link. They seem to offer a number of different products ranging from the $1,000 "Here's your genome" to $10k "Here's your genome and a detailed analysis of what we've found in it."
What's been your experience with analysis? Something that can be picked up, or something that the professional insights you got were far more useful?
My experience was interesting. The uyg clinical geneticists said I had zero genetic predisposition risk! That's a bit surprising it me. II also manually inspected the results and found that most of the risk variants they did see were just genic and I had only one of the snps out of several that are necessary for diseases such as types of cancer.
Personally I found it less than useless, since I can't reasonably conclude I have no risks. I know enough genomics to conclude that beyond a few well understood cases, genomes have little medical predictive ability.
They were marketing their genetic testing kits and related services for diagnosing genetic diseases and risks. That made it a "medical device" within the scope of the Food and Drug Act, which means that they needed to actually have specified level of testing establishing the validity of the things its was being used to assess.
The FDA noticed the violation, notified 23andMe, said, if you want to keep doing this, you need to meet the requirements, and please tell us how you plan to come into compliance. And 23andMe blew them off for quite a while, so the FDA enforced the law.
>That said, I'm fine if people want that info anyways, but 23&Me would need to add a disclaimer that says "Your genetic test results and the risks attributed to them may or may not be accurate."
But they FDA doesn't allow it, even under this condition.
I think it's ridiculous that the FDA considers this okay:
A) "1,2,3-methyl dethyl has been proven in clinical research to make your life suck less. (This statement not evaluated by the FDA blah blah blah)"
But not this:
B) "You have genes X, Y, and Z. The current state of published researched indicates an elevated risk for skin cancer for this genotype."
Was anyone seriously claiming that 23andme was misrepresenting the state of the research? Were they providing or enabling any treatment based on this research without further review by a doctor?
"1,2,3-methyl dethyl has been proven in clinical research to make your life suck less. (This statement not evaluated by the FDA blah blah blah)"
I'm assuming you saw that on a dietary supplement? That would never fly for an approved drug. Take a look at the FDA website to see what kind of promotion they crack down on. There was a ADD drug company that had an ad with a kid studying and the slogan "He can finally get his homework done". The FDA came down hard on them and said "where is the clinical trial showing that academic performance improves?".
As other posters have stated, 23&Me got busted, submitted a 510(k) (approval of medical device) and then when the FDA came back with questions, they failed to reply. You can find it all in the numerous FDA warning letters.[1]
Their disclaimer said:
The genotyping services of 23andMe are performed in LabCorp’s CLIA-certified laboratory. The tests have not been cleared or approved by the FDA but have been analytically validated according to CLIA standards. The information on this page is intended for research and educational purposes only, and is not for diagnostic use.
I think you're missing an important point. The FDA was executing the laws of the united states. 23&Me refused to even respond when FDA sent them a C&D. Then the FDA shut down their work. 23&Me had every chance to negotiate terms with the FDA, but didn't, until they were forced to.
That's not correct. The FDA made them stop doing something they were doing illegally. Their genetic test is a medical device and they didn't have federal approval.
Further, when the FDA informed them they needed approval, they didn't respond. The FDA finally had to invoke the law.
Also, I don't think 23&Me's test results have enough medical value to be used for evaluating health risks.
Further, 23&me's database has serious problems; for exmaple, they still report tongue rolling as a Mendelian trait. That alone shows that they aren't being careful with their analysis.
Also, I don't think 23&Me's test results have enough medical value to be used for evaluating health risks.
For some things they do, like they test for mutations related to Alzheimer's that can drastically alter risk, ranging from "you're probably never going to get it" to "you're probably going to get it, and there's a good chance it'll be much earlier than you would have imagined".
But their marketing material was vastly overstating the value of their results, which is near 0 for most diseases. And it was misleading people into thinking it was more comprehensive than it really was (like, it's not a full genome, and it doesn't include every SNP that we know matters like most BRCA mutations).
All of those diseases that 23&Me reported on have existing single-purpose genetic tests which are far more accurate.
I've done full-genome too. The report (first from Illumina, then from another site I uploaded my VCFs) was medically useless: I read all the top risks, then did additional research, and found that the risks they reported were contradicted by other SNPs (for example, they'll say you are at risk for X, but only if you have Y SNPs and Z SNPs, and if you check Y and Z you don't have it).
In general, you need a genius/expert to analyze these results right now.
The FDA wants them to get approval becaue what 23&Me was doing was illegal and then when the FDA informed them, 23&Me didn't respond (this is all clearly documented!). The FDA has a requirement to enforce the law.
Do they? What evidence do you have of that? Insurance companies typically reimburse for actual genetic tests, and they are legally prevented by GINA from discriminating against you for the test results.
I think it's kinda bullshit that there seems to be no limit on the information that the government, Facebook et. al. can gather on me, but somehow I can't be trusted with information about my own genetic code unless it's been vetted by the FDA. It's not like I could go have a medical procedure solely on the basis of this information. Yet supplements and diet pills can make all kinds of bogus claims with impunity.
>I think it's kinda bullshit that there seems to be no limit on the information that the government, Facebook et. al. can gather on me, but somehow I can't be trusted with information about my own genetic code unless it's been vetted by the FDA.
All the FDA did was prevent them from making unsubstantiated medical claims from the results of their test, in the same way that they would for, say, a new pharmaceutical. 23&Me could always go and perform the necessary clinical trials and submit the evidence to prove their results to the FDA. FDA is doing what the FDA was designed to do. What's the problem?
>Yet supplements and diet pills can make all kinds of bogus claims with impunity.
That's because the supplement lobby launched a huge political campaign and got congress to change the law barring the FDA from investigating supplements, after the FDA tried to regulate them.
For those of us who got on board before the fda acted, we still get access to all that information.
And op is right, it isn't overly useful.
I know for example that I am not a carrier of cystic fibrosis, and that I have one copy of ApoE4.
But I could have worked that out with a high degree of certainty anyway - I have a first degree relative that died of Alzheimer's and no family history of CF.
It remains to be seen that the information they provide is anything more than a curiosity. In fact, it could be dangerous for the uninformed to receive this information: prominent on my 'health risks' page is that I have a 57% risk of cardiac disease, with a big red bar next to it representing that it will likely claim me one day.
What it fails to mention is that a white male has a high risk of cardiac disease anyway, and putting a giant red bar next to the words cardiac disease without this context is not likely to be confidence inspiring
I enjoyed my 23&me account in general. The one piece of info that I've found 'useful' was my eyecolor genotype. I have brown eyes and my husband has blue eyes. But I have blue and brown alleles, so before we had kids we were able to intelligently guess about their eye color.
(It wasn't that useful, but we enjoyed it. We now have one child with blue eyes, and one with brown eyes)
This would make me anxious. I remember reading about someone who learned from 23andMe that they had a terminal disease or something like that, and it drastically altered their life. I'd rather just live in ignorance.
If the disease in question could be hard to handle mentally/emotionally, they specifically include a warning that is very direct and says "Are you sure you want to know this?".
I'm not sure how that well that's going to work, with genome sequencing now below $1000. The data is going to be out there, putting your head in the sand isn't going to solve your mortality issues.
It shows that message regardless of whether you have an increased risk or not. The presence of the message is not an indicator either way, so if you'd rather not know you simply ignore it.
Once you are asked "Are you sure you want to know this?" you are already making the person very anxious.
Now they would certainly want to what their problem is. Who would be comfortable when they are told, they have a terminal disease and are they happy not knowing what that is?
I think it's an incredibly personal decision that you don't really have a place to criticize. I happen to agree with with that post as well, as long as it's not communicable, I'd 100% prefer not to know if I had a disease that was going to kill me.
If you're in a position to be responsible for others, shouldn't you already have a safety net/final arrangements? Diseases aren't the only things that can kill you unexpectedly, and even without a family I have life insurance, a living will, and all my other arrangements made.
If you're in a position to be responsible for others, shouldn't you already have a safety net/final arrangements?
Yes, you should, but many younger people don't. In your 20's, 30's, even 40's, you feel like death is pretty far off and you can get around to that "boring" stuff later. You may have some basic life insurance, but maybe you haven't really thought about other details. There are also things you might want to handle that aren't necessarily paperwork, such as catching up with family members.
Additionally, if you ARE someone who has that stuff in order (FWIW, I mostly do), you might decide to spend more time volunteering or doing other things. For my own case, I have my retirement pretty much covered. I mostly just work to fund day to day life and continue to contribute to retirement funds. If it turns out I've only got 2 or 3 years (or less!) left to live, I would definitely stop working entirely and spend my time doing other things.
I've used 23andMe, and it told me I have twice the risk of developing Alzheimer's disease when I'm older. Considering that I've lost a few family members to Alzheimer's, it worries the hell out of me. Regardless, this has triggered me to research a bit about the disease and ways of potentially reducing the risk.
It does make you anxious, but when you have that knowledge, you feel the need to do something about it.
I mentioned this to another person in the thread. Worth repeating. Take lots of curcumin every day for the rest of your life. It has been shown to bind to a-beta protein and get cleared from the brain. The overproduction of a-beta causes alzheimers. India, where they consume lots of turmeric (curcumin is an extract from turmeric) has significantly lower incidence (very very low) of alzheimers. You'll be fine.
When dispensing medical advice that's this actionable, not well known, and promising miracles, please link to the research. If someone sees this and follows your advice to the exclusion of conventional treatment, and you're wrong, that would be very bad.
I'd be more interested in my doctor having this information. I tend to self diagnose (poorly) when presented with too much information that I don't understand well. But I feel like a medical professional could use the data to keep an eye out for specific symptoms and tailor questions for my risks, without giving me unneeded anxiety.
I have heard that giving your doctor information about genetic conditions may result in treatment for those conditions being excluded by your health insurance (because they're "pre-existing").
"GINA protects individuals against discrimination based on their genetic information in health coverage and in employment. GINA is divided into two sections, or Titles. Title I of GINA prohibits discrimination based on genetic information in health coverage. Title II of GINA prohibits discrimination based on genetic information in employment."
I ended up learning I supposedly have a 40.1% chance of getting Alzheimer's Disease. It hid the result and asked me if I really wanted to know. I am not sure who in their right mind would not want to know (though maybe that is my Alzheimer's talking). Such a thing would drive someone crazy.
I have just kept living my life the way I have been. It was scary at first. At least I know I ought to eat right etc...
I think if you are too afraid to know what your genes might say about your future then yes 23andme might not be a good fit.
But there's lots you can do to reduce your risk for Alzheimers. It's good that you know!
(1) Exercise
(2) Take lots of curcumin. Capsules - not just curries (it's an extract from turmeric).
There's an interesting Freakonomics episode about testing for Huntington's disease. Turns out some people want to know and some people don't. Me, I'd absolutely want to know. If I had a good chance to get it then I'd adjust my life to make the most of it before ~55 instead of planning for a long retirement...as one example.
brother-in-law was signed up and he got a message saying his niece was on the service. He doesn't have any nieces. They chatted and he figured it must have been his brother and it was. Pretty crazy.
I'm sorry, could you explain in a bit more detail? It sounds like what you're saying is that your sister's husband signed up for 23andMe and sent in his DNA sample. Then, 23andMe said "based on your DNA, we believe another of our members is likely your niece, here is her contact info...". Then, your sister's husband contacted this person (the potential niece), and after some chatting it seemed likely that your sister's husband's brother was indeed the girl's biological father, and this was then later confirmed with additional DNA testing.
If this is in fact the story, doesn't this seem like an invasion of privacy on the part of 23andMe?
Invasion of privacy? Considering that you can't even get the health information now, ancestry matching is literally the only reason to use the service. Why would you sign up and go through the whole spitting in a cup song and dance if you didn't want to find relatives?
>If this is in fact the story, doesn't this seem like an invasion of privacy on the part of 23andMe?
You have to opt in for the "Relative Finder"
>In rare cases, participation in DNA Relatives may reveal that you are related to someone whom you didn’t expect, or that you are not related to someone in the way that you expected. Consider this before you opt in to this feature.
I don't like this sentence from the wikipedia page [1]:
> The price of the full direct to consumer testing service in the United States has reduced from $999 in 2007 to $99 in 2012, and it is effectively being sold as a loss leader in order to build a valuable customer database.
First, why can't companies these days just sell me a product for the cost price plus a margin? This seems like a fair way of doing business.
Second, what do they want to do with my data? Why do they think it is valuable (will they sell it)? Why can't I just get my data without them keeping a copy of it?
(It isn't because they offer an online comparison/discovery tool, since they could easily offer that as a downloadable app, so they don't need my data on their servers; it also isn't because they need to do research on the data, i.e., to find correlations, because they could make that voluntary).
You misunderstand. The point is that the more data they have, the more valuable and "accurate" their analysis is -- it's like crowdsourcing genetics by building one large database.
So your complaint of "why don't they just sell it at the cost plus a margin" doesn't work here. They're dropping the price because they're paying you for your information to make their service better.
It's like Tumblr not having ads (for a period of time). "Why are you giving this to me for free?" you ask. Because then you're more likely to use us, and then we'll have a bigger user base and make tons of money later.
That's how SAAS models can give away their "service" for free and still be valued at billions of dollars.
> The point is that the more data they have, the more valuable and "accurate" their analysis is
This is covered by my comment that participating in research should be voluntary.
> So your complaint of "why don't they just sell it at the cost plus a margin" doesn't work here.
Yes, my complaint makes perfect sense here. They are selling below cost price to build themselves a bigger market. This is not a fair way of doing business, in my opinion. The fact that you are framing this as "we are paying you to help us build a bigger market share" does not make a difference.
In my opinion, everything that is being built by crowdsourcing belongs in the public domain. It is not fair to have one company keeping that information hostage.
For me, the most interesting thing about my 23andMe results was that my Y chromosome confirmed the family rumor that my grandfather was not actually the son of his father. If enough people join 23andMe, it's possible that I may find my actual relatives.
Many people find this sort of thing creepy. I'm OK with it.
And on an even-more-personal note, as a guy with long hair, it was exciting to learn that I didn't have the male pattern baldness gene, even though my maternal grandfather was bald as an egg by the time he turned 40.
My fathers-fathers-father was an immigrant from Norway (a village now in Sweden.) The family rumor was about a wealthy man named Cooper, a common English name. My Y chromosome is from Doggerland. Occam's Razor favors Mr. Cooper.
Interesting, but I'm confused. I had to look up Doggerland but apparently it's been submerged for 6000 years and was in the North Sea, why couldn't your Norwegian ancestors have come from Doggerland originally?
If you look at the modern distribution of Doggerland Y, then it's clear that it's much, much more common in England and the Netherlands than in Norway-now-Sweden. You are correct that I can't be 100% certain.
Yeah, I was and 23andMe customer before the ban, and I loved the data it provided. In particular, I thought 23andMe did an excellent job of describing the statistics behind genetics in layperson terms (that is, it wasn't "you're going to get this disease", but "out of a 100 people, 3 people without this gene got it, but 6 people with this gene did get it", together with great illustrations and more details to explain the probability). I thought the fact that the FDA thought consumers would be confused or overwhelmed by the analysis was kind of insulting to anyone with an elementary school education.
23andMeh had to pivot because their egos thought they could simply ignore the FDA. But 23andMeh essentially lost several years to that hubris, and as a result many others in the genomics field have not only caught up but bypassed them.
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[ 3.1 ms ] story [ 182 ms ] threadhttps://news.ycombinator.com/item?id=10384595
I seriously thought this was the future. I was so excited to see my health information.
It was really cool to see that my spit could confirm that I'm 1/2 asian and 1/2 european. Also, I found it interesting that I have more neanderthal DNA than 99% of people who took the 23andMe test.
Other than that, all the things I've seen are marginally useful at best.
I log into my account once a year or so when I get an email from 23andMe. I understand these things take a lot of time, but I think a lot of the initial users aren't so ready to tell everyone that they need to sign up for a testing kit. I think people were so much more interested in it years ago.
Do you mind if I ask what service she used for this?
For one people used to die a lot younger, many genetic defects will only kill an older, weaker human.
For two the environment is different, e.g. many more cancerogens in and around us. Just have a look at the cancer rates. A middle aged man in US today has a 70% chance of getting cancer during his lifetime.
The op said a friend discovered they had a genetic mutation that lead to an increased risk of cancer. There are several conditions that do this: multiple endocrine neoplasia (types 1 and 2), li fraumeni syndrome (a p53 mutation), familial adenomatous polyposis (apc mutation), hereditary non-polyposis colorectal cancer and a handful of others.
All of these present with strong family histories. In fact, patients with APC mutations often have cancer before their 30s. Yet have been successfully passing on this mutation for generations now.
If you do not have defective copies of the above (or a small subset of mutations of other regulatory and proto-oncogenes) then you have no greater chance of developing cancer than the next person, lifestyle and virus exposure factors not withstanding.
Now I really don't think you have any idea what you're talking about because your two points are at odds with each other: you first state that we are living longer, and defects 'will kill older, weaker humans'. Bullshit. Your next point, that cancer rates are higher now than at some indeterminate point in the past, is also bullshit and out of context: if we are living longer, then of course we are going to get cancer. But this has no bearing on our genetic susceptibility to cancer over a certain age. In fact, there are no known genetic mutations that predispose to cancer later in life; all the syndromes predispose to cancer early.
I can only suppose you are trolling very hard, and hence hiding behind 'anon1mous'
IF you want to sell a genetic test, you need to prove to the FDA: (1) that your test is accurate and reproducible, (2) that whatever conclusion you draw from the test is scientifically sound.
The issue was that 23&Me was saying "you have this SNP, that means your risk of X is increased by Y%". The test, the result and the conclusion is not based on a rigorous testing. Hell, some of the risk associated with SNPs is coincidental at best.
That said, I'm fine if people want that info anyways, but 23&Me would need to add a disclaimer that says "Your genetic test results and the risks attributed to them may or may not be accurate."
Which devices and drugs were 23&Me selling? I thought it was just crowd-sourced information about traits.
Think how ridiculous it would be if the FDA just shut down a crowd-sourced database about trait correlations. But suddenly when a company like 23&Me correlates the two, it becomes pure, concentrated evil that must be subject to regulation.
It's not a stretch to imagine someone acting on that information with potentially dangerous results; taking extra unneeded supplements, having elective surgery, dramatically changing their lifestyle to reduce the risk of some condition, etc.
The difference is that Illumina did things legally (including hiring clinical genetics analysts who pored over the details and made a number of calls about what was significant).
23&Me did not. They were doing something that they would have known was illegal. The FDA explained this to them, and 23&Me blew them off. Failing to respond to an accusation from the government is an amateur move and 23&Me deserved what they got. They only went back and negotiated afterwards.
You're complaining the government was restricting your freedoms but we have more than adequate evidence that 23&Me was acting irresponsibly.
Then I promptly uploaded my genome including the VCF files they used for risk screening, https://my.pgp-hms.org/profile/hu80855C
Anybody on the internet is free to analyze my genome.
What's been your experience with analysis? Something that can be picked up, or something that the professional insights you got were far more useful?
Personally I found it less than useless, since I can't reasonably conclude I have no risks. I know enough genomics to conclude that beyond a few well understood cases, genomes have little medical predictive ability.
https://www.enlis.com/download.html
They were marketing their genetic testing kits and related services for diagnosing genetic diseases and risks. That made it a "medical device" within the scope of the Food and Drug Act, which means that they needed to actually have specified level of testing establishing the validity of the things its was being used to assess.
The FDA noticed the violation, notified 23andMe, said, if you want to keep doing this, you need to meet the requirements, and please tell us how you plan to come into compliance. And 23andMe blew them off for quite a while, so the FDA enforced the law.
But they FDA doesn't allow it, even under this condition.
I think it's ridiculous that the FDA considers this okay:
A) "1,2,3-methyl dethyl has been proven in clinical research to make your life suck less. (This statement not evaluated by the FDA blah blah blah)"
But not this:
B) "You have genes X, Y, and Z. The current state of published researched indicates an elevated risk for skin cancer for this genotype."
Was anyone seriously claiming that 23andme was misrepresenting the state of the research? Were they providing or enabling any treatment based on this research without further review by a doctor?
"1,2,3-methyl dethyl has been proven in clinical research to make your life suck less. (This statement not evaluated by the FDA blah blah blah)"
I'm assuming you saw that on a dietary supplement? That would never fly for an approved drug. Take a look at the FDA website to see what kind of promotion they crack down on. There was a ADD drug company that had an ad with a kid studying and the slogan "He can finally get his homework done". The FDA came down hard on them and said "where is the clinical trial showing that academic performance improves?".
As other posters have stated, 23&Me got busted, submitted a 510(k) (approval of medical device) and then when the FDA came back with questions, they failed to reply. You can find it all in the numerous FDA warning letters.[1]
[1]http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2...
Further, when the FDA informed them they needed approval, they didn't respond. The FDA finally had to invoke the law.
Also, I don't think 23&Me's test results have enough medical value to be used for evaluating health risks.
Further, 23&me's database has serious problems; for exmaple, they still report tongue rolling as a Mendelian trait. That alone shows that they aren't being careful with their analysis.
For some things they do, like they test for mutations related to Alzheimer's that can drastically alter risk, ranging from "you're probably never going to get it" to "you're probably going to get it, and there's a good chance it'll be much earlier than you would have imagined".
But their marketing material was vastly overstating the value of their results, which is near 0 for most diseases. And it was misleading people into thinking it was more comprehensive than it really was (like, it's not a full genome, and it doesn't include every SNP that we know matters like most BRCA mutations).
I've done full-genome too. The report (first from Illumina, then from another site I uploaded my VCFs) was medically useless: I read all the top risks, then did additional research, and found that the risks they reported were contradicted by other SNPs (for example, they'll say you are at risk for X, but only if you have Y SNPs and Z SNPs, and if you check Y and Z you don't have it).
In general, you need a genius/expert to analyze these results right now.
Insurance companies would have another view.
http://www.cbsnews.com/news/fda-warns-23andme-tells-genetic-...
All the FDA did was prevent them from making unsubstantiated medical claims from the results of their test, in the same way that they would for, say, a new pharmaceutical. 23&Me could always go and perform the necessary clinical trials and submit the evidence to prove their results to the FDA. FDA is doing what the FDA was designed to do. What's the problem?
>Yet supplements and diet pills can make all kinds of bogus claims with impunity.
That's because the supplement lobby launched a huge political campaign and got congress to change the law barring the FDA from investigating supplements, after the FDA tried to regulate them.
I know for example that I am not a carrier of cystic fibrosis, and that I have one copy of ApoE4.
But I could have worked that out with a high degree of certainty anyway - I have a first degree relative that died of Alzheimer's and no family history of CF.
It remains to be seen that the information they provide is anything more than a curiosity. In fact, it could be dangerous for the uninformed to receive this information: prominent on my 'health risks' page is that I have a 57% risk of cardiac disease, with a big red bar next to it representing that it will likely claim me one day.
What it fails to mention is that a white male has a high risk of cardiac disease anyway, and putting a giant red bar next to the words cardiac disease without this context is not likely to be confidence inspiring
Make people tick a box that says "I am currently outside the United States" to receive the fancy information, if necessary.
It's kind of cool to cross reference your SNPs to NIH studies.
(It wasn't that useful, but we enjoyed it. We now have one child with blue eyes, and one with brown eyes)
We did pay a little more for our tests, but I am not sorry for it, I just wished it worked better.
If the disease in question could be hard to handle mentally/emotionally, they specifically include a warning that is very direct and says "Are you sure you want to know this?".
Telling someone they have a high risk of breast cancer or bowel cancer is helpful: they can get regular checkups.
Telling someone they have a high risk of Parkinson's or MS is just cruel.
Now they would certainly want to what their problem is. Who would be comfortable when they are told, they have a terminal disease and are they happy not knowing what that is?
Would you prefer they didn't ask?
edit: i don't mean this as a criticism, genuine curiosity.
If you're in a position to be responsible for others, shouldn't you already have a safety net/final arrangements? Diseases aren't the only things that can kill you unexpectedly, and even without a family I have life insurance, a living will, and all my other arrangements made.
Yes, you should, but many younger people don't. In your 20's, 30's, even 40's, you feel like death is pretty far off and you can get around to that "boring" stuff later. You may have some basic life insurance, but maybe you haven't really thought about other details. There are also things you might want to handle that aren't necessarily paperwork, such as catching up with family members.
Additionally, if you ARE someone who has that stuff in order (FWIW, I mostly do), you might decide to spend more time volunteering or doing other things. For my own case, I have my retirement pretty much covered. I mostly just work to fund day to day life and continue to contribute to retirement funds. If it turns out I've only got 2 or 3 years (or less!) left to live, I would definitely stop working entirely and spend my time doing other things.
It does make you anxious, but when you have that knowledge, you feel the need to do something about it.
Downvoted.
http://www.hhs.gov/ocr/privacy/hipaa/understanding/special/g...
"GINA protects individuals against discrimination based on their genetic information in health coverage and in employment. GINA is divided into two sections, or Titles. Title I of GINA prohibits discrimination based on genetic information in health coverage. Title II of GINA prohibits discrimination based on genetic information in employment."
I have just kept living my life the way I have been. It was scary at first. At least I know I ought to eat right etc...
I think if you are too afraid to know what your genes might say about your future then yes 23andme might not be a good fit.
Now if they would just add an edit mode...
References: http://alzheimer.neurology.ucla.edu/Curcumin.html http://www.ncbi.nlm.nih.gov/pubmed/20182027
http://freakonomics.com/2013/06/20/do-you-really-want-to-kno...
If this is in fact the story, doesn't this seem like an invasion of privacy on the part of 23andMe?
You have to opt in for the "Relative Finder"
>In rare cases, participation in DNA Relatives may reveal that you are related to someone whom you didn’t expect, or that you are not related to someone in the way that you expected. Consider this before you opt in to this feature.
https://www.23andme.com/ancestry/
> The price of the full direct to consumer testing service in the United States has reduced from $999 in 2007 to $99 in 2012, and it is effectively being sold as a loss leader in order to build a valuable customer database.
First, why can't companies these days just sell me a product for the cost price plus a margin? This seems like a fair way of doing business.
Second, what do they want to do with my data? Why do they think it is valuable (will they sell it)? Why can't I just get my data without them keeping a copy of it?
(It isn't because they offer an online comparison/discovery tool, since they could easily offer that as a downloadable app, so they don't need my data on their servers; it also isn't because they need to do research on the data, i.e., to find correlations, because they could make that voluntary).
[1] https://en.wikipedia.org/wiki/23andMe
So your complaint of "why don't they just sell it at the cost plus a margin" doesn't work here. They're dropping the price because they're paying you for your information to make their service better.
It's like Tumblr not having ads (for a period of time). "Why are you giving this to me for free?" you ask. Because then you're more likely to use us, and then we'll have a bigger user base and make tons of money later.
That's how SAAS models can give away their "service" for free and still be valued at billions of dollars.
This is covered by my comment that participating in research should be voluntary.
> So your complaint of "why don't they just sell it at the cost plus a margin" doesn't work here.
Yes, my complaint makes perfect sense here. They are selling below cost price to build themselves a bigger market. This is not a fair way of doing business, in my opinion. The fact that you are framing this as "we are paying you to help us build a bigger market share" does not make a difference.
In my opinion, everything that is being built by crowdsourcing belongs in the public domain. It is not fair to have one company keeping that information hostage.
Why?
Many people find this sort of thing creepy. I'm OK with it.
And on an even-more-personal note, as a guy with long hair, it was exciting to learn that I didn't have the male pattern baldness gene, even though my maternal grandfather was bald as an egg by the time he turned 40.
FDA put a stupid ban on them, and then they got something approved but that was a fraction of what they were offering previously.
Just another example of how politics and bureaucracy is hampering progress.
http://thumbsnap.com/i/xIyNOKkl.jpg
:(
There's that number again...