23andMe, FDA and DNA health profiling

What if a simple test could tell you how
likely you where to develop diabetes or get cancer or suffer from Alzheimer’s? What if the same test provided hints on
living a healthier and fuller life? And what if all of this was available
for modest sum, without going through your healthcare provider
of shelling out a small fortune in health insurance? As the cost if
genetic sequencing and data analysis have plummeted the worlds of genetics, information and
medicine and have mashed together to enable incredible new insights into
who we are and what our futures might entail. At the
forefront to this revolution in personal genome exploration is the company 23andMe. For the past
several years, 23andMe have been taking spit samples from individuals and sequencing critical sections of their genome
to provide insights into everything from ancestral
roots to a person’s propensity to develop certain diseases. The service is a mix of the educational and the informative. And it’s just been
given a cease and desist order by the US Food
and Drug Administration. The problem from the FDA’s perspective
is that 23andMe’s product – their DNA spit kit – should be classified as a medical device:
its intended for use in diagnosing and addressing health
conditions. And because at this, there are standards that need to be
attained before FDA allows use – including ensuring that any medical
information the user receives is appropriately accurate. FDA are concerned
that if people start to self-medicate or even
make decisions on surgery based on 23andMe’s spit test when the analysis is
misleading, the product has shifted from providing
interesting information to being a significant threat to health.
This makes a lot of sense. But FDA’s approach to
medical device regulation was never meant to cover personal direct-to-consumer health
products.that can simultaneously offer massively integrated insight into health
issues and opportunities. In other words, 23andMe’s product is so “out there” that
it’s challenging how emerging technologies like these are regulated. And this is important because we can’t
put the genie back in the bottle when it comes to personalize genome analysis. this is an emerging technology that, like
all other technologies, comes with its own
flavors of benefits and risks. And like other disruptive technologies,
its also disrupting the way we handle impacts. How things will shake out with
this one is anyone’s guess at the moment. But one
thing seems certain: FDA’s decision is going to force a
conversation around some really tough questions around the use of
personal genome technologies. Questions like: should FDA regulations be amended to fit today’s
Personal Genome testing reality? Or, how useful or dangerous are personalized
health information services like 23andMe? And what about the ethics? if we can create
an albeit cloudy crystal ball that gives us
a glimpse into a healthy future, should people be denied this service? Or are we just not grown up enough for
this yet? Let us know what you think in the
comments below, and keep an eye on this one, as the
outcome is likely to be important for the future of direct consumer health

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32 thoughts on “23andMe, FDA and DNA health profiling

  1. congratulations on getting the video up so quick, it's definitely an interesting issue

    If you feel like talking about it more we'd love to have you back on the podcast Andrew, we'll make the episode specifically about this topic

  2. Very interesting. This seems to be a health benefit that would be very positive for our new ACA. Alas it mired in politics as is the FDA. A way of improving outcomes and lowering cost by tailoring treatments and possibly reducing unneeded testing could be a great leap forward. I wonder if this promising tech will be another casualty of our broken political system?

  3. Great video. Congrats. I am a 23andMe member and I never made the assumption that 23andMe was performing a diagnosis or giving me medical advice. They are reading and packaging up my genomic data in a way that makes sense based on the most recent scientific data. Any medical action that I might take from the data (my data!) would be discussed with my physician. Period. Any lifestyle choice that I might make based on the data would only be beneficial and not regulated. 

    I think it also has to do with the wording and claims on the website that the services is preventative and other types of wording. Perhaps just a shifting of how they market and altering of wording as to not make claims. Plus, I hear that another issue is that they've not responded to repeated requests by the FDA. 

    Exciting story to follow. 

  4. I STRONGLY suggest you review and become up to date with phamracogenomics and whether and how FDA already regulates this space. Yes, the tech is new, out there and all that, but as even Venter has said no two machines give the same results. This is why industry leaders are seeking PMA 510k authorisation on clearly defined assays and kit rather than pretending to be the smart know-it-alls on the block.

  5. I've used 23andMe. It provides a great deal of health information… but only if you opt in to get it. As one source of possible information (it did predict my eye color and baldness) it can be fun. But I am not going to rely on a partial sequencing to make any life and death decisions. I  believe, based on the information I was able to find prior to ordering the kit, that the techniques are sound and the process credible. But if someone makes a health decision based on a $99 test alone, maybe natural selection should be allowed to take it's course. I personally believe that more good would come of a regulation of the supplement market than picking on 23andMe's spit collection apparatus…which by the way, was pretty cool. 

  6. I am not sure how different this test is than a book that tells you may be more susceptible to Alzheimers  if you eat from aluminum pans or evenif there is a difference from a magic 8 ball. They all provide info that is not clinically proven, and the accuracy is not guaranteed, but everyone should be allowed to make decisions based on their own criteria. Of course 23andMe should have to add any disclaimers as to the efficacy of their tests that their lack of clinical trials would suggest before selling their product.

  7. One has to wonder about the dichotomy of a society which appears to be rapidly embracing personal DNA sequencing technologies, yet roundly challenges the efficacy of flu vaccines, the necessity of public health funding, and even the existence of evolution…

    Of course, i recognize that I'm likely referring to very different subsets of the population, but I'm sure there's at least some overlap. And as a publicly funded institution, the FDA is nevertheless subject to the scrutiny of the aforementioned subsets, which raises interesting questions about a possible populist stance on this debate – now THAT I'd be curious about.

  8. One has to wonder about the dichotomy of a society which appears to be rapidly embracing personal DNA sequencing technologies, yet roundly challenges the efficacy of flu vaccines, the necessity of public health funding, and even the existence of evolution…

    Of course, i recognize that I'm likely referring to very different subsets of the population, but I'm sure there's at least some overlap. And as a publicly funded institution, the FDA is nevertheless subject to the scrutiny of the aforementioned subsets, which raises interesting questions about a possible populist stance on this debate – now THAT I'd be curious about.

  9. If the vid is correct then the FDA has no jurisdiction in this emerging area, so what we have here is bureaucratic empire-building. Can 23and Me afford to challenge the FDA in court and ignore their order?

  10. but 23andme doesn't provide a diagnosis! 23andme informs you whether you have gene variants associated with certain diseases, you are supposed to follow up with a doctor/professional…

  11. From 23 and mes own web page well before this even came up "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." The FDA is out of bounds on this IMHO.

  12. Hi! Congratz on this quick video. I am one of the people who strongly disagree with the FDA's decision. Indeed, as you point out (or seem to, at least), the FDA's argument is basically: "The people are all children and not grown up enough to make an informed decision by themselves and with the help of their doctors."

    In any event, in case you want to add this to the video/description/whatever, there is an ongoing petition (which I doubt will work out) on whitehouse.gov to overrule the FDA's decision.


  13. I really am not sure what you are trying to accomplish here, but releasing a cute video at this precise precise point in time does not look like the wisest strategy towards a federal regulator.

    The FDA has been very clear about the kind of information and assurances it requires from 23andMe, so stop playing games and get cracking on it before things get too nasty. Public sympathy and advertising campaigns are not going to sway the FDA's view fast enough for you to get away with it.

    In my humble opinion, that is.

  14. The FDA has held numerous hearings over the past several years on the issue, but the International Society of Genetic Genealogy (ISOGG) who represent genetic genealogists and many citizen scientists, who petitioned to speak were given the last slot and were time limted whereas others were not.  The FDA and the medical establishment seem to want to put a physician (with the requisite fee structure) and the need to have a physician's prescription to order such a test between you and your genetic data interpretation.   Surprise.  Surprise. Surprise.

    The arguments the FDA used in the cease and desist letter to Ann Wojcicki CEO of 23andMe are rather weak, ill-considered, and badly presented.  Their scenario that a woman might have a breast removed because of a 23andMe test is not only far fetched but shows the faulty logic and a lack of a consideration of the real world.  What surgeon is going to look at a 23andMe health risk assessment and perform major surgery on that basis and basis alone?  Ridiculous.

    I have tested myself and much of my family on 23andMe back in 2009 when this test was in Beta.  I find much of the FDA claims and concerns of the dangers of having such information put directly into an individuals hand's to be spurious and without merit.

    This is clearly a power move by the FDA and the medical establishment that it represents to control this technology or at least the interpretation of the data.  The FDA, however, is not the only agency trying to control genetic direct to consumer (DTC) testing as 23andMe tests are not sold to or allowed in the states of Maryland and New York, nor have they been since 23andMe's inception in 2007.

    The real issue, however, is just around the corner.  The $1,000 genome is within sight.  One can have a complete genome sequence today for just under $5,000,  This is as opposed to a spot check such as a 23andMe test performed on an Illumina DNA SNP (single nucleotide polymorphism, aka a mutation) chip.  The Illumina chip looks specifically at some 700,000+ selected and known SNPs across the 3 billion base pairs in the human genome.

    With the advent of a $1,000 complete genomic analysis of the 3 billion base pairs in the human genome, the world of medicine is going to change and change forever.  The FDA is trying to play catch up on a technology that is moving far, far faster than it is.

  15. Remember 23andMe is an american company. NSA (and other privacy violating agencies in america) have full access to your DNA.

    23andMe could also sell your DNA information to, a few examples:
    1. police, eg DNA shows you might be prone to aggressive behavior (even if you in real life is a teddy-bear)
    2. Insurance companies, DNA shows you highly likely to have health issues. Suddenly you are refused insurance or have to pay much more.
    3. Ad companies use your DNA to make specialized ads that you are more likely to not resist.

    You can't trust an american company with anything as sensitive as your DNA.
    The temptation and the economical gain is to high for an american company to resist.

    There is also the issue of people not being intelligent or educated enough to understand the DNA results. Which leads them to do stupid things.

  16. A friend who was adopted as a baby has used 23 and Me to locate blood relatives.  Since I know no living blood relatives either, I'd been thinking about doing the same.  Just remove the disease probability info for now and let them sell the product.

  17. 23andMe discloses the need to consult a doctor regarding any health related results. In addition, they emphasize the results are based on multiple studies which involve a wide range of probabilities. Who is the FDA protecting?  This sounds like another big government power grab which is likely supported by some legacy business special interest (regulatory capture). Tell the government to keep its hands off our innovative businesses. 

  18. Having had the test done, I was pleased that it gives information about the science that it was based on including sample size, whether the studies were repeated etc. 
    I don't like the possibility that looking at my own genes in the future would not be allowed. Many of the genes identified tally with my personal health, plus when my father in law had a heart problem, the genetic test results proved very helpful to the doctors treating.

  19. My thought is that the FDA should let 23andme provide their product for those whom find it fitting and stop trying to be thought police! This is potential information and not a treatment, duh.

  20. This issue has ambiguity. We are on the brink of a new kind of medicine. It is going to come whatsoever. Let us just enumerate how the issue is placed.
    Whole genome sequencing, ENCODE, Genome wide association studies are discovering new insights about the probable function or association  of genes with diseases. Their inferences written in journals etc are literally STATISTICAL.
     They should be supported through functional and pharmacological studies. 
    If 23 and Me provides a service with disease mutations and the susceptibility of a person to get a disease, it becomes a business. Their health reports about multigenic diseases or monogenic disorders include a vague discussion about susceptibility. Such health-reports are akin to a diagnosis that should be given in principle only by a general practitioner. Medicine is a field with personal touch, family history, patient history etc. Just peer-reviewed journals and reports cannot be applied to medical practice & that too through a "courier service". 

  21. Fortunately, I got in before the ban, so I am "grandfathered in" and can still see my health-related data and interpretation. The idea that I would be tempted to do anything but bring my regular doctor's attention to any issue is ludicrous.

  22. "Total, Perfect, Knowledge Problem" To use force (government) because "they know what is best" for every individual is impossible.  Government is not omniscient, thus has no legitimate reason to stop 23andme from merely providing information (regardless of its accuracy).

  23. FDA don't care about people, neither does 23andme, it is all about business, profit, not single thing is made by companies or government organisations without making money. Capitalism cares about people and is here to protect us, what a joke. While you are debating here about who is right, the people in charge negotiating who gets what and how much. If they come to agreement, well green light then. Welcome to the land of the free, here your personal opinion and your rights are very valuable.

  24. I was just corious about my ancestry so I bite the hook. After months of test returns and requests from other people saying they were my fourth cousin, I want off the merry-go round. Turns out you can`t get off their active list, without a written letter? I have their telephone number, but I seem to aslways catch them away from the phone. Seriously? My mother was 1/16 Cherokee but they said she was British and Scandinavian, what about my 1/32 American Indian blood? THEY ARE LIKE STEPPING ON HOT ASPHALT WITH CHEWING GUM UNDER YOUR SHOE, hard to get rid of.

  25. It is not questioned because it is "revolutionary", it is questioned because they are presenting this NOVELTY ITEM as valid medical information instead of the Horoscope reading that it is.  If they did not present it like that, the FDA would not care.  Now fools like this guy are perpetuating the stupidity by acting like it is some miracle information tool, when the reality is that we do not know much about how the gnome functions yet.  The thing is, it's not just one gene that determines a feature, but a gene that affects it as well as several other that modify that affect.  We know of a few features that have a very strong tie to one genetic position, and nearly nothing else.

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