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FDA Orders 23andMe to Stop Providing Genetic Analysis.

Discussion in 'Genetic Testing and SNPs' started by wdb, Nov 25, 2013.

  1. Sea

    Sea Senior Member

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    @Firestormm a few thoughts in response to some of the issues you raised

    The relationship with Google - The founder of 23andme was until recently the partner (personal) of the founder of Google. They saw the business potential for lots of profit in this area in the future, which is why this venture is in part sponsored by Google.

    $99 - People keep saying some version of this "what do you expect for $99 dollars?" The true value of the test is way above this. It used to sell for $299 + an annual paid subscription to keep access to results before they got a wealthy sponsor involved but even that is below cost. Their subsidisation of the cost is a business investment. The true value for the company is in the data they will have when they have a million customers who give them permission to use their genetic info. Researchers will be lining up to get access to it. I don't have a problem with entrepreneurs making money from my data as long as there is some reciprocal benefit for me (knowledge not money)

    As a comparison, they test 960 000 snps for $99. Most single gene tests for disease by other companies are in the vicinity of several hundreds to several thousands of dollars. Some of those are gene sequencing, some are testing snps. Yasko, who is mentioned extensively on this forum, tests several dozen snps for around $400. A test for Haemochromatosis in Australia is $70 and tests exactly the same 3 snps as what is included in 23andme (without the 959 997 others ;))

    "Veneer of science" - I don't think that's a fair assessment. The science is in it's infancy and needs a very good understanding of how to use statistics and of the potential pitfalls before any conclusions can be drawn. There is less information available for rare snps than there is for common ones. If a snp is common it takes a huge number of people to detemine any disease correlation. If a snp is rare it has usually been less studied and there are fewer people available to study it in. The human genome project has a database of 1000 human full genome sequences. That is not enough to study disease correlations in mutations that occur in less than 1% of people unless there is a very direct cause and effect like there is in Cystic Fibrosis for example.

    "Judging by the threads on this forum" - Much of what is discussed on here uses the raw data from 23andme but not the interpretations that come from 23andme. I think it's fair to say that some here have a good grasp of science and know how to follow research appropriately and others don't have a clue and reach some far fetched conclusions from what they learn. There is much more information available about the snps tested than what 23andme actually report on but it takes a lot of research to come to reliable conclusions.

    23andme are providing recommendations and I think they have mismanaged how they have worked with the FDA on that. They definitely should not have made the advertising statements they have about health and individualised recommendations if they didn't want to raise the hackles of the FDA

    I know many people misunderstand the risk calculations by 23andme. I think many who look at their results do not move beyond the overview to understand what the risk assessments are based on and what they really mean. 23andme does differentiate between established research, preliminary research, controversial research where different researchers have reached opposing conclusions and data gathered from 23andme customer surveys.

    They note whether the research has been replicated or not. They provide links to studies in all their reports. They use symbols to denote the size of the data pool that the research is based on. They make it clear that their information is for educational and research purposes only and not to be used to diagnose or treat and that someone with concerns should take the information to their doctor and discuss it with them.

    Personally I think there is much room for improvement in providing information to a not necessarily scientifically literate customer base, but I would hate to see this information being guarded and only available through a doctor.

    As an example if I look only at my overview it tells me I have a reduced risk for Celiac disease.
    My risk 0.13% Average risk 0.24%. Therefore my risk is 0.54% of average. It does not mean I don't have Celiac.

    When I look at the more detailed report it tells me that they base their risk assessment on 4 established markers (some of mine are the riskier version and some are not). Research is linked to for each marker. It is made clear that their risk assessment for the HLA marker is based only on the most common risk factor (HLA DQ2.5 - carried by 30-40% of the general population but present in over 90% of people with Celiac) but that there are other HLA DQ risk versions which some people with Celiac have (HLA DQ2 & 8) I don't have DQ2.5

    Many of the genetic testing companies that doctors refer people to for Celiac testing only test for DQ2.5 and people are told their risk has been ruled out if they don't have that. That is simply not true and mainstream testing is beginning to recognise that.

    From further research with my raw data I discovered I most likely have the HLA DQ2.2 version which accounts for about 5% of people with Celiac. I have 2 out of the the 3 necessary markers, the 3rd is not covered by 23andme. It was enough for my doctor to more seriously consider more thorough testing though I have no family history.

    I am really pleased with the information I can learn from my data. I come from a family with a complex medical history with little help from doctors and I have been able to make sense of a lot from my genetic data. As soon as it is reasonable to have my whole genome sequenced I will be doing that. I expect my children will benefit from it more than I will as the research catches up with the information that is there waiting to be discovered. Even now though there is much to be gained.

    Sorry, that was more than a few thoughts
     
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  2. Sparrowhawk

    Sparrowhawk Senior Member

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  3. alex3619

    alex3619 Senior Member

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    Here is what I think will happen if the FDA is successful and unopposed. Corporations etc. like 23andMe will do the testing, and the interpretation will go offshore to corporations in other countries. The FDA will completely lose control. Its a lose-lose for the FDA. Information knows no borders.

    I think that instead of shutting things down they should be working on ways to better educate the public about such tests. However in the current financial climate, and given that its not the FDA mission to do things like that (though perhaps something for the CDC or HHS), the FDA cannot do this.
     
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  4. Firestormm

    Firestormm Guest

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    Here's what I think will happen. 23andMe will be sensible and remove all references to diagnosis from their website and comply with the FDA and business will continue pretty much as before.
     
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  5. Snow Leopard

    Snow Leopard Senior Member

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    I hope so.

    23andme is pretty much creating a new market on their own, the FDA actions will be a big set back to genetic research (the major limitation of such is having large samples).

    Also, how does this ruling affect overseas customers?
     
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  6. Sea

    Sea Senior Member

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    I hope so too. I also wonder about how the ruling affects overseas customers. It still looks like business as usual on their website when I log in. I can still purchase kits
     
  7. alex3619

    alex3619 Senior Member

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    Which leads directly to my prediction. The FDA will lose control, and we will be getting our advice from Mexico, or South Africa, or the Philipines or somewhere. The FDA does not have global jurisdiction.
     
  8. Freddd

    Freddd Senior Member

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    Hi Waverunner,

    I quote the quote below your post

    Today, it costs 100,000 times less than it once did to create a three-dimensional map of a disease-causing protein.
    There are about 300 times more of these disease proteins in databases now than in times past
    The number of drug-like chemicals per researcher has increased 800 times
    The cost to test a drug versus a protein has decreased ten-fold
    The technology to conduct these tests has gotten much quicker

    Given all these advances, why haven’t we cured cancer yet? Why haven’t we cured Alzheimer’s? Why haven’t we cured Parkinson’s?

    The answer likely lies in the bloated process and downright hostile-to-innovation climate for FDA drug approvals in this day and age.

    - Juan Enriquez


    There are a whole lot of things wrong with the all sorts of things in the whole business, not the least of which is that they have sort of put the cart before the horse. I worked inside the industry, group health, for decades, as a systems analyst and consultant. On his questions at the end, a reason we haven't cured Parkinson's and probably Alzheimer's, or a lot of other things is that the wrong questions are being asked. With cancer, I don't think that is a single thing that can even be asked that way. The infectious disease model has corrupted the way things are researched, the way questions are asked and even thought of and about.

    Medical costs are through the roof, no chronic disease has been cured, people with chronic diseases have to take their pills for the rest of their lives and many times their health still deteriorates. Despite the fact, that there are millions of people with all kinds of strange diseases like CFS,

    Yep. Mystery disease. It can't be seen because many tests already account for it as normal. This one I have studied for 35 years. Because the assumptions underlying the studies are wrong the wrong questions are being asked the wrong way harder and deeper. If it doesn't work the first 100 times do it again harder and deeper with more sensitive instruments.

    Let's get philosophical for a moment. A long time ago when I was in college taking a psyc course, the question came up "What is mental health?" Here we must ask "What is health?" Is it all relative or is there actually a truly healthy state? And what would that be like? Not like FMS/CFS, a couple of faces of the mystery disease.
     
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  9. WillowJ

    WillowJ Senior Member

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    many people don't read the terms of anything, but I think it's pretty clear that this is an investigational service (and it also explains that genes don't tell the whole story in any case):

    https://www.23andme.com/legal/tos/
    Bolding original, underlining and italics mine.
     
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  10. barbc56

    barbc56 Senior Member

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    I thought I might not respond to this thread again but there are some important points missed that I think need to be brought up.

    In this particular case, when analyzing this situation in context, I side with the FDA. While many of the comments/arguments I’ve read here as well as other places might be relevant in many other situations, I don’t think they do here and they only serve to detract concentrating on the real issues.

    IMHO, this is not about big Government, nefarious motives, suppressing access of information, the fact that medical science isn’t perfect, we’ve been slighted by the FDA look at this and this and that situation. Unfortunately, many of these arguments have nothing to do with the core question. Business and Scientific ethics. That’s the bottom line.

    Yes there are bureaucratic snafus which are inherent in any bureaucratic institution, especially the time taken to call this company to task, but generalizations saying if there is a problem in one part of a system then the whole system is corrupt only impede the process of finding a solution.

    The FDA is simply saying that if 23andme wants to sell this test, they need to drop the claims that are not valid. They have been contacted again and again to straighten out their act and instead of doing this, they have ignored the FDA for years and instead have spent money on slick advertisement. To me this is the epitome of what I call the “Silicon Valley” mind set. Make a fast buck, make it NOW by taking shortcuts, use of slick advertising campaigns and hope the technology will catch up. Truth in advertizing. It’s just plain sloppy business tactics as well as unethical.

    23andme’s priorities appear to be to sell as many tests as possible. They disguise this as wanting to get a larger data base. There are medical institutions that are doing this very same thing and I don’t think any of them are asking the participants to pay for donating their DNA. Of course donating DNA in these situations doesn’t necessarily give you information about the results.

    Might the tests show the possibility of future health problems? Well, they might, but we really don’t know because we don’t know the validity of these tests. There’s also the concern about reliability as some people have sent samples to other companies which sell the same service and yet the results are not consistent. There may also be problems with the questionnaire’s limitations used to analyze the data, as well as the type of sample, how it’s obtained and received by the company. Add to this our lack of knowledge of how much environment interacts with our genetic makeup and you have a very complicated picture. (citations will be added here at a later time).

    Biology is not necessarily destiny and sometimes, some of the possible health problems that pop up in these tests may not come into play with a healthier lifestyle, which would probably benefit most of us.

    Claims made that so and so found this or that about their health status and that’s a good thing are based on assuming the tests are valid in the first place. Again, we just don’t know if that’s true.

    There are situations where there are valid reasons for having your DNA tested but that should be done by geneticists, who not only test DNA but offer genetic counseling for interpreting the results.

    At this point in time there ‘s not enough knowledge to make a commercial test necessary. Maybe in the future.

    It’s certainly an exciting field.
     
  11. Waverunner

    Waverunner Senior Member

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    Your observation is right but your conclusion is wrong. Full genome sequencing without interpretation will cost you around 1,000 to 3,000 dollars. A full genome is about 3,000 times more, than what 23andMe does with its SNPs. So according to your calculation if SNPs cost $ 99 dollars, a full genome should cost around $ 300,000 dollars. As we have seen, that is not the case. The Yasko test is more accurate than 23andMe but if I had the choice today, I'd never pay $ 400 dollars for a few SNPs. For that price, I would like to get my whole genome sequenced.

    23andMe is only the beginning but deep from my heart I'm thankful, that 23andMe offers SNP testing + some interpretation for only $ 99. This is how a free market should work. Competition and know-how drive down prices.

    I can tell you what will happen if the FDA regulates this market. Prices will go through the roof. The patient will not be allowed to access his own genome but he will be forced to pay hundreds of dollars for a few doctor visits and thousands of dollars for full genome sequencing and interpretation. I've been saying this over and over again, if you destroy the free market and you let the FDA and big pharma companies split up the market, you get what we see today. You pay huge amounts of money for getting stuck in a system that can't cure you, but will accompany you for the rest of your life as soon as you get sick.

    I urge anyone to go visit a doctor and order a genetic test. It doesn't matter which one you will order but you will pay around $ 99 for only being allowed to speak to a doctor. The genetic test will cost you several hundreds or a few thousand dollars but most likely will only check a few SNPs as well.

    I'm really annoyed by the current system. Patients and doctors must be allowed to take the matters in their own hands. Your genome is your genome and absolutely nobody has the right to prevent you from accessing it.
     
    Last edited: Nov 27, 2013
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  12. Snowdrop

    Snowdrop Senior Member

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    To me this analysis seems uncontroversial and correct. The problem lies in when 23and me garners many people purchasing their product causing them to be profitable. At this point the owners will likely be no different from any other silicon startup and either sell the company to the very insurance companies who have the FDA in their pockets or simply just sell them the data if not the company itself.
     
  13. Esther12

    Esther12 Senior Member

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    There are things I'm not comfortable about with 23andMe, and things I'm not comfortable about with the FDA. The Forbes article was pretty close to what I had been thinking.

    If it is simply a case of the FDA insisting 23andMe are more careful with their phrasing, then this doesn't really matter and will quickly resolve itself. I am concerned that the interests of insurance companies and others will sway things unfairly... but I also think that American culture is more resilient to attempts to restrict these sorts of freedoms (of speech and access to information) than British.

    Beyond that though, there is still the danger of results from 23andMe being misused by others, and I don't see any easy way around that other than trying to ensure people are informed as to the limited value this testing currently has.
     
  14. SickOfSickness

    SickOfSickness Senior Member

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    23andme has sent a email out saying they are doing what they can to work it out with the FDA, and will keep us posted. (Hope I paraphrased that ok.)
     
  15. alex3619

    alex3619 Senior Member

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    I paid several hundred dollars to look for just six SNPs several years ago. They found nothing even though I have a problem. On another occasion I paid about $200 for a couple of SNPs. They did find I was a haemochromatosis carrier, so that time it paid off.

    There is not much doubt that 23andMe is overselling its product based on hype. That is something that business does all the time. You specify required changes, fine them, warn them, and move on. That is one of the problems with poorly regulated free markets. I think the FDA usually does a good job of regulation, but its stuck in old approaches, old dogma. There needs to be new methods developed that match the modern world. This is not easy to do however.

    One of the big problems in modern government is mission creep, another is excessive outsourcing of essential services. Mission creep means organizations that were never set up to do something suddenly find they have to get involved. Outsourcing makes government function partially unaccountable, and the corporation that was hired or bought the government asset can increase costs at will if not regulated, and is not transparent. As a result government cost skyrockets and problems become invisible. The FDA and I think HHS are in the process of major mission creep in recent years and are unprepared.

    On privatisation, the ultimate outsourcing, in one analysis I read there were only a handful of times when the government and country were better off in history. One was in Brazil steel, where it became much more efficient and competitive. A few were in Australia where government assets were sold at the high point in market demand. Usually governments sell assets at too low a value, during either a market downturn or excessive government debt, and then pay too much for the services. As a result they pay more for the same services, increasing debt in the long term.

    Another issue is corporate relocation to poorly regulated countries. They can then do what they want.

    Regulating services like 23andMe need to be based on carefully analyzed data as to likely impact. I do not see any way in which this is in the public interest, though dealing with false advertising is very important in its own right.

    However there is another issue. What we do not want to see is a global Google monopoly on information. Google is doing quite well by the public right now, but will that be the case in 20 years under new management? If Google is a major investor in 23andMe, that needs to be looked at very carefully.

    From a governance perspective the best thing would be for 23andMe to split into two, one for testing, one for interpretation. Although still sold as a single product, each could be bought separately. So someone could then get genetic testing with 23andMe, but then get interpretation wherever they want. This may improve competition.

    If the FDA simply shuts down interpretation of results then that service will move offshore and be completely unregulated. What will that achieve?
     
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  16. Waverunner

    Waverunner Senior Member

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    23andMe has to be careful with what they claim but as long as they inform the customer about possible drawbacks I have no problem with their whole approach.

    Here is a great article about the situation:

    http://medcitynews.com/2013/11/smart-takes-23andme-fda-standoff/#.UpYk3pDbPB8.twitter

    Dr. Gholson Lyon:
    "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."

    Alex is not alone with his opinion: "23andMe might also want to start scouting locations for a new overseas headquarters, if only to send a message about how Mr. Obama’s regulators are chilling innovation and investment. You can mail a tube of saliva anywhere. The scientists and entrepreneurs helping to lead medicine into the genomic era have little need to operate inside the U.S. if that means begging the government for a hall pass every time they want to do something new and potentially life-saving."
     
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  17. Sea

    Sea Senior Member

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    I didn't make any per snp calculations. You are making calculations and drawing conclusions.

    My point was 23andme say their test at $99 is below cost. Whether or not that is true is a different question. It is far better value than any other test on offer at the moment.

    Where is your information from that the Yasko test is more accurate?
     
  18. Firestormm

    Firestormm Guest

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    Related. Might be of interest if you have access to the articles.

    BMJ Editors Choice: 22 November 2013

     
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  19. Valentijn

    Valentijn Activity Level: 3

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    This relates to my only real criticism of 23andMe - they do hide information. Known pathogenic missense mutations are given "i" numbers by 23andMe, instead of using the existing and widely known "rs" IDs. This means that users have to look up the i numbers one at a time, which is a rather difficult process until you get the hang of it.

    Actually that might be one of our next projects for the gene analyzer download. Currently it already translates rare alleles with "i" numbers to rsIDs based on location on each gene, but it would also be nice to translate all "i" numbers in the entire 23andMe data file when possible.
     
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  20. Waverunner

    Waverunner Senior Member

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    Regarding Yasko, I read it on their forums. They use a different sequencing method. I don't know which one they use and I don't know if it still true. My main point is this, when a full genome costs 1,000 to 3,000 dollars, then it should be possible to sequence 3,000 times less for 100 dollars without subsidizing it. I'm not saying, that they didn't subsidize their test in the past. Moreover what you say is true, they offer better value than any other test. However, if a competitor came up, which would offer full genome sequencing for a reasonable price, I'd probably switch to them.
     
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