Stopping 23andMe Will Only Delay The Revolution Medicine Needs

from the you're-doing-it-wrong,-fda dept

Genetic testing is a powerful tool. Two years ago, with the help of my colleagues, it was this tool that helped us identify a new disease. The disease, called Ogden Syndrome, caused the death of a four-month old child named Max. But the rules and regulations for genetic testing in the US, laid down in the CLIA (Clinical Laboratory Improvement Amendments), meant I could not share the results of the family's genetic tests with them.

Since that time, I have advocated performing all genetic testing involving humans such that results can be returned to research participants. This I believe should extend beyond research, and some private companies, like 23andMe, are helping to do just that.

For as little as US$99, people around the world can send a sample of their saliva to 23andMe to get their DNA sequenced. Their Personal Genome Service (PGS) analyses parts of a person's genome. This data is then compared with related scientific data and 23andMe's own database of hundreds of thousands of individuals to spot genetic markers, which the company claims “reports on 240 health condition and traits”.

This week, however, as I had feared, the US Food and Drug Administration (FDA) has ordered 23andMe to stop marketing their service. In a warning letter, FDA said: “23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorisation for the device.” By calling PGS “a device”, the FDA fears that people may self-medicate based on results they receive from 23andMe.

Somehow the US and UK governments find it acceptable to store massive amounts of data about their own citizens and that of the rest of the world. They are happy spending billions on such mass surveillance. But if the same people want to spend their own money to advance genomic medicine and possibly improve their own health in the process, they want to stop them.

There are many diseases that appear to occur in the presence of genetic mutations, with large effect in certain populations. A case in point is that of deltaF508 mutation in the CFTR gene, which is known to predispose people to cystic fibrosis, which causes scarring inside organs.

The expression of cystic fibrosis in each of these people is highly variable, but the presence of the mutations can certainly raise suspicion for this illness in individuals with any such symptoms. This is particularly the case when there is an already known instance of cystic fibrosis in the immediate family.

This is why carrier screening in families with diagnosed cases of such diseases is advocated. And yet, such screening is not commonly performed, even though it could decrease prevalence of affected infants.

Genetic data (or genotype) on its own is of little use. It is the correlation of how those genes manifest in people, which is their phenotype, that makes genotypes useful.

I dream of a world in which we have phenotype and genotype data on millions of individuals, so that we can really begin to better understand genotype-phenotype relationships.

Instead, we still live in the medical world described in the Pulitzer prize-winning novel Arrowsmith pubished in 1925, where doctors pretend to know far more than they actually do. The sad fact is that there is no way the FDA can evaluate and regulate each and every genetic variant in the billions of letters which make up the human genome that get variably expressed in trillions of cells in every human body.

We need to collect billions of data points for analysis by computers. The only company in major contention to do this soon is 23andMe. With FDA’s latest attempt to stop 23andMe, all it is really doing is delaying, or worse stopping, the revolution that today’s medicine desperately needs.

Gholson Lyon is an Assistant Professor in Human Genetics at the Cold Spring Harbour Laboratory. He does not work for, consult to, own shares in or receive funding from any company or organization that would benefit from this article, and has no relevant affiliations.

The Conversation

This article was originally published at The Conversation. Read the original article.



Reader Comments (rss)

(Flattened / Threaded)

  1.  
    identicon
    Anonymous Coward, Nov 26th, 2013 @ 11:09am

    I can only imagine who might be interested in a large database of individuals sequenced DNA...

    Maybe not a bad move, if for different reasons for the time being.

     

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  2.  
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    scotts13 (profile), Nov 26th, 2013 @ 11:21am

    Dangerous information

    Heaven help us if we were presented with factual information which might be misinterpreted. We might get all sorts of funny ideas... happens to me every time I read books. Better put a stop to that.

     

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  3.  
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    Anonymous Coward, Nov 26th, 2013 @ 11:56am

    What are the Obamacare implications of this database?

    Could it be that if you have certain markers, you will be denied treatment for symptoms related to those diseases?

     

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  4.  
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    Krish (profile), Nov 26th, 2013 @ 12:00pm

    This "more information = more better" fetish has gotten a little over the top. More information isn't helping the NSA find terrorist; it's making it harder! What we need is more knowledge and converting information into knowledge is pretty hard, and especially hard in medicine.

     

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  5.  
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    Anonymous Coward, Nov 26th, 2013 @ 12:04pm

    Re: What are the Obamacare implications of this database?

    "Could it be that if you have certain markers, you will be denied treatment for symptoms related to those diseases?"

    No, that's the kind of thing co-called "Obamacare" is intended to prevent. Otherwise, insurance companies would be perfectly free to deny such treatment as a preexisting condition.

     

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  6.  
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    Anonymous Coward, Nov 26th, 2013 @ 12:14pm

    Hello, industry shill

    "Genetic testing is a powerful tool. Two years ago, with the help of my colleagues, it was this tool that helped us identify a new disease. The disease, called Ogden Syndrome, caused the death of a four-month old child named Max."

    Genetic testing in a clinical context is not what worries the FDA. 23andMe is a service sold and marketed directly to patients, who are much more likely to misinterpret results, worry needlessly, and make bad decisions. 23andMe can add all the disclaimers it wants, but people will tend to look at the data and ignore the disclaimers.

    It's too bad for 23andMe, but the FDA is not in the business of protecting business models. Genetic testing itself has not been blocked, and will continue to advance whatever happens to 23andMe in particular.

    By the way: bringing up the NSA's surveillance practices is clearly a cheap attempt to gain the audience's sympathy.

     

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  7.  
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    Mike Masnick (profile), Nov 26th, 2013 @ 12:27pm

    Re: Hello, industry shill

    23andMe is a service sold and marketed directly to patients, who are much more likely to misinterpret results, worry needlessly, and make bad decisions. 23andMe can add all the disclaimers it wants, but people will tend to look at the data and ignore the disclaimers.

    So the solution is to deny them the information they want about themselves? How utterly obnoxious and paternalistic of you.

     

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  8.  
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    Anonymous Coward, Nov 26th, 2013 @ 12:37pm

    Re: Re: What are the Obamacare implications of this database?

    Assuming that once they get it to single payer (i.e. the government, i.e. the taxpayer) they don't start the rationing.

     

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  9.  
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    Todd Knarr (profile), Nov 26th, 2013 @ 12:43pm

    Re: Re: Re: What are the Obamacare implications of this database?

    You mean "more rationing than private insurers already do", don't you? It's not as if the group plan I have through my employer doesn't already decide whether they're going to cover treatments or not based on whether they think they're going to be cost-effective.

     

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  10.  
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    Todd Knarr (profile), Nov 26th, 2013 @ 12:51pm

    Re: Re: Hello, industry shill

    "data" vs. "information". The problem with these results is that people are being given data (without any meaningful interpretation or analysis done on it) but it's being marketed as information (data that's been analyzed, spurious bits filtered out and the results interpreted so they have some meaning). And this is a case where obscuring the distinction can get people injured, disabled or dead as a result.

     

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  11.  
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    Anonymous Coward, Nov 26th, 2013 @ 12:54pm

    Re: Re: Hello, industry shill

    "So the solution is to deny them the information they want about themselves?"

    No. It's all about how said information is presented, and in what context. Look at it from a statistical perspective: Are people more or less likely to be helped or harmed by direct sales of genetic tests? Are they more or less likely to be helped or harmed by having doctors prescribe and interpret the same genetic tests, if necessary? Are they more or less likely to be helped or harmed by turning a doctor's visit into a second, optional step in figuring out what's wrong with them?

    "How utterly obnoxious and paternalistic of you."

    Sticks and stones.

     

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  12.  
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    Queex, Nov 26th, 2013 @ 12:57pm

    Public access genomics is damn premature

    I think the real problems with 23andme are using substandard samples (sent through regular post and taken by the customer, yikes) going through bargain basement sequencing (at too low a coverage to be at very useful for analysis of the individual's genome) and reporting confidently on 240 traits and conditions (few of which they can be remotely confident about).

    For comparison, the American College of Medical Genetics best practises document includes only 24 diseases where incidental findings should be reported to the doctor, and hence patient. This is in the context of clinical exome sequencing, at high coverage, with extensive expert analysis of any suspect variants found before they are passed on.

    23andMe's spiel is basically fraud. There is no way they have the accuracy needed to produce the kinds of reports they do.

    Further down the line, when things like the Human Gene Mutation Database are fuller and more reliable, when you can sequence at effective depth cheaply even with samples of inferior quality, then the sort of service that 23andMe is trying to offer will be worthwhile. At the moment, it's a joke.

     

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  13.  
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    Anonymous Coward, Nov 26th, 2013 @ 1:04pm

    Re: Re: Hello, industry shill

     

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  14.  
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    nasch (profile), Nov 26th, 2013 @ 1:17pm

    Basically irrelevant

    No mention of the actual reason for the FDA letter? 23AndMe has failed to provide any evidence at all that their tests are accurate (after being given many opportunities - nay, requests, even demands - to do so). That is why the FDA is shutting them down, not because they don't want people to have information, and not because they don't like genetic testing.

    The bit about the NSA is a ridiculous non sequitur; that has nothing at all to do with this issue. The rest of the editorial isn't much better. Yes, it would be great to get accurate information about cystic fibrosis and other genetic diseases. If 23AndMe can provide that, wonderful. Can they? Nobody knows except 23AndMe, and they're not talking.

    With FDAs latest attempt to stop 23andMe, all it is really doing is delaying, or worse stopping, the revolution that todays medicine desperately needs.

    What the FDA is doing is their mandate. It's 23andMe that's at fault here - they've had plenty of time and notice to comply. I can't figure out why so many people are blaming the FDA for doing exactly what they're supposed to be doing, rather than 23andMe for not complying with what the FDA has been telling them they have to do.

     

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  15.  
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    anonRabbit, Nov 26th, 2013 @ 1:23pm

    So how many people here who are posting against 23andme have actually done the test or registered at the site (free) and looked around?

    There is a wealth of "information" provided besides raw results including references to clinical studies, journals, reference population information (eg this gene has only been clinically tested and found relevant in Japanese subjects etc). They could always provide more, but there is a really very substantial amount of background information plus they respond to questions. They have also initiated GWAS research studies which have led to peer-review publications.

    Anyone concerned about handing over a DNA sample needs to understand there is no chain of custody which can ties a person to a sample. I can submit anyone's sample as Mickey Mouse so long as I provide a credit card billing address. There is no requirement to provide a real name to match the sample. Privacy and consent statements are on the web site for all to verify and, as mentioned, the ability to register for an account without purchasing the test means that anyone can check out the site before spending any money. I've been really surprised reading the many tech site comments that few techies seem to have actually looked at the product before mouthing off. Shame.

     

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  16.  
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    Anonymous Coward, Nov 26th, 2013 @ 1:52pm

    Re: Re: Re: Hello, industry shill

    I want the government to mind its own business and allow me to take my own risks. The government legalizes cigarettes, alcohol, among other harmful products. If someone wants to give me their opinion about the meaning of something it is my personal responsibility to determine the validity of what they say and to make sure the information is interpreted correctly. I am in a much better position to make these determinations for myself than the government is to do so for me.

    A: It's my body and so, having more experience with it makes me a better authority to it

    B: I know that I have my best interests at mind but I do not know the government has my best interests at mind.

    I want the government to mind its own business. If you think someone else's opinion or a particular product is not good because it's not FDA approved no one is forcing you to take it. I am not going to manage your health for you. Likewise I do not want the government or you or anyone else to manage my health for me. STAY OUT!!!!

     

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  17.  
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    Anonymous Coward, Nov 26th, 2013 @ 1:52pm

    Re: Re: Re: Re: Hello, industry shill

    authority over it *

     

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  18.  
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    Anonymous Coward, Nov 26th, 2013 @ 2:34pm

    Re: Re: Re: Re: What are the Obamacare implications of this database?

    You mean "more rationing than private insurers already do", don't you?

    Yes, yes I do. If you think things are bad now, wait until you put the government in charge of it. Right out of the gate they have proven woefully inept at managing health care. I don't expect it to get any better.

     

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  19.  
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    akp (profile), Nov 26th, 2013 @ 5:12pm

    Re: Basically irrelevant

    Thanks for this. I'm pretty surprised this article is even here. It's so blatantly written only from 23andMe's perspective, and all "omg gummint is evil" that it doesn't really belong here.

     

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  20.  
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    akp (profile), Nov 26th, 2013 @ 5:17pm

    Re: Public access genomics is damn premature

    It's not only fraud, it's harmful fraud. If they tell you "omg you're at risk for cancer!", and you freak out and go to your doctor waving a piece of paper around insisting you have cancer and need to be treated... You're going to have a bad time.

    False positives are bad. False negatives are even worse. Both are apparently rampant with 23andMe's "service."

    It provides no useful information, and only makes people worry.

     

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  21.  
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    akp (profile), Nov 26th, 2013 @ 5:20pm

    Re: Re: Hello, industry shill

    Mike, you're usually a lot better about doing your homework on things like this.

    I highly recommend you read the FDA's actual letter regarding 23andMe. They are not trying to stamp out consumer DNA testing, they're trying to stop a specific company from defrauding their customers with misleading information.

    23andMe has had a long time to report the efficacy of their testing, and has been unwilling to do so. They cannot provide any proof that their results are accurate. In the meantime, they scare the crap out of people by reporting not only false positives, but false negatives.

    It's complete snake oil, and I'm surprised you let their shill have the floor.

     

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  22.  
    identicon
    Anonymous Coward, Nov 26th, 2013 @ 8:56pm

    Re:

    My understanding of what this company does is that it sequences only a very tiny portion of one's DNA. While there is perhaps some benefit to having even such limited information, false positives and negatives do present problems, as well as other medical conditions/susceptibility that are not reflected in the report because the sequenced DNA is so small.

    Seems to me a waste of $99...

     

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  23.  
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    Michael Avery (profile), Nov 27th, 2013 @ 12:59am

    Re: Basically irrelevant

    Exactly.

    Gholson Lyon (article's author) should have focused on the reasoning behind the FDA's intervention and not the repercussions of genetic data collection and sharing being stymied.

    Also, the last time that I checked, the FDA is a regulatory body charged with minimizing risks and increasing safety for consumers, whilst the NSA is an apparently un-regulated body incapable of mitigating risks and not doing much to increase safety for anybody.

     

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  24.  
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    PaulT (profile), Nov 27th, 2013 @ 1:52am

    Re: Re: Re: Re: Re: What are the Obamacare implications of this database?

    I love this sort of scare tactic among Americans, largely because it depends on ignorance of some very important points. One is that single payer in other countries is usually not implemented as "government controls everything". Not only do doctors usually have some (if not complete) autonomy, but private options are not normally ruled out. You might end up in a crappy position if you need some experimental treatment that's not covered by the government system but don't have the money to get said treatment privately, but you certainly don't get told "we won't treat you because we're rationing". Any valid argument I've heard that they do ration is equally applicable to private insurers, and thus moot.

    As someone who's lived in 4 countries, 3 of which have single payer or comprehensive public healthcare systems - and have never had a family member suffer unduly at the hands of a healthcare system apart from at the hands of the one in the US - this always sounds like scaremongering crap. Which it probably is.

    "Right out of the gate they have proven woefully inept at managing health care"

    Apart from the point that they haven't started managing healthcare, you're completely right. Do you really think think that a web site for a federal exchange for private insurance (which didn't affect state exchanges AFAIK, at least in those states that agreed to offer their citizens such a thing) equals healthcare?

     

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  25.  
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    Anonymous Coward, Nov 27th, 2013 @ 3:45am

    Re: Re: Re: Re: Re: Re: What are the Obamacare implications of this database?

    Not to mention the whole bogeyman about death of private insurance. Guess what, they still exist even in countries with national healthcare. Pretty much all of the Cadillac plan form since the basic plans are already taken care.

     

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  26.  
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    RickMan (profile), Nov 27th, 2013 @ 6:42am

    Stopping 23andMe

    Offer to share the DNA data with the NSA/FBI and FDA approval is assured.

     

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  27.  
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    nasch (profile), Nov 27th, 2013 @ 7:23am

    Re: Re: Re: Re: Re: Re: What are the Obamacare implications of this database?

    You might end up in a crappy position if you need some experimental treatment that's not covered by the government system but don't have the money to get said treatment privately, but you certainly don't get told "we won't treat you because we're rationing"

    And in the US, you might end up in a crappy position if you need some experimental treatment that's not covered by your private insurance.

     

    reply to this | link to this | view in thread ]

  28.  
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    Anonymous Coward, Nov 27th, 2013 @ 8:21am

    Re:

    I think part of the problem is that if I can accurately diagnose myself at a much more affordable price then why do I need to pay for an expensive doctor. The FDA and medical profession must be terrified.

    But what about those that can't afford expensive doctors that can benefit from these much cheaper alternatives. If the FDA hinders these alternatives the harm to those people that can't afford doctors could be much greater than the benefit the FDA is allegedly (but not really) providing by hindering these services (or trying to make them cost a lot more).

     

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  29.  
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    PaulT (profile), Nov 28th, 2013 @ 1:16am

    Re: Re: Re: Re: Re: Re: Re: What are the Obamacare implications of this database?

    Exactly. When this was being first proposed, I saw a lot of fearmongering about things that were basically outright lies - the doctors being controlled by government, bureaucrats instead of doctors making diagnoses, private insurance being outlawed, etc. Anything that wasn't outright false was actually just as applicable to the private insurance system (e.g. rationing of healthcare - did people honestly think that every claim was paid without question if it was a for-profit corporation in charge?).

    It's just lies to scare the ignorant, and it's kind of depressing that the internet - a platform that allows anyone to have direct dialogue with real people in other countries - was so successfully used to spread xenophobic fictions and the gullible.

     

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  30.  
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    Queex, Nov 29th, 2013 @ 4:07am

    Re:

    There is a wealth of "information" provided besides raw results including references to clinical studies, journals, reference population information (eg this gene has only been clinically tested and found relevant in Japanese subjects etc). They could always provide more, but there is a really very substantial amount of background information plus they respond to questions. They have also initiated GWAS research studies which have led to peer-review publications.


    That's exactly the information in the HGMD and other similar variome databases. At the moment, it simply isn't full or reliable enough to support the testing that's being claimed. Even where a variant has strong functional work supporting its role in a disease, it can still have a very low penetrance. There's a huge difference between searching for the genetic cause of a disease in a patient and screening someone for anything they might carry. Most of the databases are built on studies of the former, and as such even most of those 'strong' variants tell us little if they are found in a patient without any a priori reason to look for the disease. Even if 23andMe's filtering and analysis is best-of-breed (which, let's face it, they don't have the resources for), that still doesn't overcome the issues with their sample collection and sequencing quality.

    Berg et al (2013) in Genetics in Medicine gives a good summary of the state of the art, if you have access.

     

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  31.  
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    Anonymous Coward, Dec 1st, 2013 @ 11:48pm

    NatGeo to the rescue

    I think I just found the reason FDA is hammering on 23andme:

    http://shop.nationalgeographic.com/ngs/browse/productDetail.jsp?productId=2001246&gsk&am p;code=SR90002&keyword=geno+2.0&OVMTC=Exact&site=&creative=29302857497&OVKEY=gen o%202.0&url_id=188876827&adpos=1t1&device=c&gclid=CNrvmvCFkbsCFRGBfgodETAApA

    Our wonderful National Geographic Society has a competing product, at a much higher price, and doesn't like the competition. FDA has probably been asked to shut 23andme down.

     

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  32.  
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    nasch (profile), Dec 2nd, 2013 @ 7:34am

    Re: NatGeo to the rescue

    "This new DNA test uses cutting-edge technology giving you the richest ancestry information available"

    That doesn't sound like a competing product.

     

    reply to this | link to this | view in thread ]

  33.  
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    Anonymous Coward, Dec 4th, 2013 @ 4:04pm

    Last time I looked, both were offering ancestry data. 23and me includes medical markers, and ongoing updates, that NatGeo doesn't, and for $99 rather than $159 or $199.

    https://www.23andme.com/

     

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  34.  
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    Adrian Patrascu, Dec 7th, 2013 @ 9:12pm

    Data is still available

    You can still download raw data from 23andme and...

    Process the raw data here: http://snpedia.com/index.php/Promethease

    The FDA sucks!

     

    reply to this | link to this | view in thread ]


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