Your genes, your rights – FDA's Jeffrey Shuren misleading testimony under oath

By Razib Khan | March 9, 2011 12:05 pm

Over the past few days I’ve been very disturbed…and angry. The reason is that I’ve been reading Misha Angrist and Dr. Daniel MacArthur. First, watch this video:

In the very near future you may be forced to go through a “professional” to get access to your genetic information. Professionals who will be well paid to “interpret” a complex morass of statistical data which they barely comprehend. Let’s be real here: someone who regularly reads this blog (or Dr. Daniel MacArthur or Misha’s blog) knows much more about genomics than 99% of medical doctors. And yet someone reading this blog does not have the guild certification in the eyes of the government to “appropriately” understand their own genetic information. Someone reading this blog will have to pay, either out of pocket, or through insurance, someone else for access to their own information. Let me repeat: the government and professional guilds which exist to defend the financial interests of their members are proposing that they arbitrate what you can know about your genome. A friend with a background in genomics emailed me today: “If they succeed in ramming this through, then you will not be able to access your own damn genome without a doctor standing over your shoulder.” That is my fear. Is it your fear? Do you care?

In the medium term this is all irrelevant. Sequencing will be so cheap that it will be impossible for the government and well-connected self-interested parties to prevent you from gaining access to your own genetic information. Until then, they will slow progress and the potential utility of this business. Additionally, this sector will flee the United States and go offshore, where regulatory regimes are not so strict. BGI should give glowing letters of thanks to Jeffrey Shuren and the A.M.A.! This is a power play where big organizations, the government, corporations, and professional guilds, are attempting to squelch the freedom of the consumer to further their own interests, and also strangle a nascent economic sector of start-ups as a side effect.

You are so much more than your genes. So much more than that 3 billion base pairs. But they are a start, a beginning, and how dare the government question your right to know the basic genetic building blocks of who you are. This is the same government which attempted to construct a database of genetic information on foreign leaders. We know very well then who they think should have access to this data. The Very Serious People with a great deal of Power. People with “clearance,” and “expertise,” have a right to know more about your own DNA sequence than you do.

What can you do? What can we do? Can we affect change? I don’t know, I can’t predict the future. But this is what I’m going to do.


1) I am going to release my own 23andMe sequence into the public domain soon. I encourage everyone to download it. I would rather have someone off the street know my own genetic information than be made invisible by the government. That is my right. For now that right is not barred by law. I will exercise it.

2) Spread word of this video via social networking websites and twitter. The media needs to get the word out, but they only will if they know you care. Do you care? I hope you do. This is a power grab, this is not about safety or ethics. If it was, I assume that the “interpretative services” would be provided for free. I doubt they will be.

3) Contact your local representative in congress. I’ve never done this myself, but am going to draft a quick note. They need to be aware that people care, that this isn’t just a minor regulatory issue.

4) The online community needs to get organized. We’re not as powerful as a million doctors and a Leviathan government, but we have right on our side. They’re trying to take from us what is ours.

5) Plan B’s. We need to prepare for the worst. Which nations have the least onerous regulatory regimes? Is genomic tourism going to be necessary? How about DIYgenomics? The cost of the technology to genotype and sequence is going to crash. I know that the Los Angeles DIYbio group has a cheap cast-off sequencer. For those who can’t afford to go abroad soon we’ll be able to get access to our information in our homes. Let’s prepare for that day.

This is a call to arms, a start. I’ve been complacent about this issue, focusing more on the fascinating aspects of ancestry inference which are enabled by personal genomics. No more. I’ll be doing a lot of reading today. If you have a blog, post the video. Raise awareness. Let’s make our voices heard. If they take away our rights because we’re silent, we have only ourselves to blame. If they take aware our rights despite our efforts, we’ll set up the infrastructure for the day when we can take back what is ours.

P.S. Feel free to post info and ideas in the comments. I just literally woke up to the urgency of this issue in the past 48 hours.

Update: here is Jeffrey Shuren’s email address: jeff.shuren@fda.hhs.gov.

CATEGORIZED UNDER: Genetics, Genomics
  • Katharine

    Let’s be real here: someone who regularly reads this blog (or Dr. Daniel MacArthur or Misha’s blog) knows much more about genomics than 99% of medical doctors.

    This is disturbing by itself.

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  • Konkvistador

    I think quite a few of us are with you on this Razib. My genetic code is mine to read and interpret or to give out to others to do the same. The power differential is already on the side of every relevant player except myself due to the messy reality of the scientific process (among other things its not that hard to misrepresent issues to forge “appropriate” expert opinion), taking away my right to choose who to trust or to read my code myself is a unacceptable step.

    While I don’t live in the US, such madness seems ripe to spread among Western nations should it establish itself in a country as prestigious as the US, even secondary powers like France or Germany going that way sans the US would probably be bad news for all EU residents, since calls for a EU-wide policy would soon follow.

  • http://blogs.discovermagazine.com/gnxp Razib Khan

    tx for the LW link. the nerd community is impacted by this way more than the norm, in the short term….

  • JosephSmith

    I can illustrate what is wrong, wrong, wrong about this without leaving my immediate family: My father is a practicing M.D. who is also LDS. That is to say, he believes that Native Americans are really bedouins from the levant in the face of all the contrary genetic evidence. He doesn’t really “get” D.N.A., and he’s supposed to be better qualified to interpret this information by virtue of his M.D.?

    All of this aside from the fact that it’s MY genome and it’s no unelected oligarch’s business what I do or don’t do with it.

    Now it’s come to this
    Like we’re back in the dark ages
    From the Middle East to the Middle West
    It’s a plague that resists all science…

  • http://blogs.discovermagazine.com/gnxp Razib Khan

    note: following twitter, it seems there may be a distinction between raw sequence and interpretation. it may be the latter where there are “gatekeepers.” probably for reasons of liability, public safety, etc. (ergo, FDA). i see the logic, but from a perspective of utility i don’t think that the regs will improve human well being. though that’s probably not the implicit rationale behind “interested parties.”

  • asdf

    it seems there may be a distinction between raw sequence and interpretation.

    But Illumina also received a letter from the FDA, and not for their EveryGenome product either, but for providing reagents to people the FDA didn’t like. Stick to your guns on this, Razib. The lines they are trying to draw are bizarre and arbitrary. Among other things — once you tell someone they carry variant X, many of the “interpretations” are just a Google away to find a link to a paper, often as not a government funded one.

    So it is often a hair-thin gap between raw sequence and interpretation. Given the irrationality on display at yesterday’s conference re: Huntington’s, I would not be surprised for them to “recognize” this fact by redacting the informative areas of your raw sequence till you get your doctor to clear it!

    What the FDA is trying to do with this ban on 23andMe is nothing less than to attack the primary means by which society can fund links from sequence to useful interpretation. Academia is not going to scale to handle large numbers of genomes. The distributed association study paradigm of 23andMe is genuinely groundbreaking and it makes me ANGRY to think that this f****ing guy Shuren is strangling it in the cradle.

    The thing is that the FDA is FUNDAMENTALLY threatened by the idea that individuals can take charge of their own health and information…because then we don’t need the FDA to review everything for us.

    The public persona of the FDA is that they’re protecting us. But watch what happens when you try to *opt out* of that protection. Suddenly you find that you can’t! You cannot take an experimental drug, you cannot try a new device, you cannot do anything related to your health without the FDA’s say so.

    They literally sued to keep a cancer patient from gaining access to experimental medicines in Cowan vs. United States, and cited that precedent as part of their reason en route to explaining why “There is No Generalized Right to Bodily and Physical Health” (A direct quote! From the FDA! Read it: http://foodfreedom.wordpress.com/2010/05/09/fda-you-have-no-natural-right-to-food-health-or-private-contracts/).

    This is the same Jeffrey Shuren, by the way, that fast-tracked the backscatter scanners that UCSF says can cause cancer. Anyone who thinks the FDA is out to protect your health needs to read these links:

    http://www.npr.org/templates/story/story.php?storyId=126833083

    http://sfcitizen.com/blog/2010/11/12/airport-backscatter-x-ray-smackdown-ucsf-faculty-vs-the-white-house-national-opt-out-day-coming-november-24th/

    http://www.fda.gov/Radiation-EmittingProducts/RadiationEmittingProductsandProcedures/SecuritySystems/ucm231857.htm

    http://www.fda.gov/Radiation-EmittingProducts/RadiationEmittingProductsandProcedures/SecuritySystems/ucm238024.htm

    Basically, when it’s another government agency asking for more ammo in the neverending war on Terra, the FDA can’t bend over fast enough.

    But when it’s an innovative startup which is causing essentially zero harm to people, why, then it’s all about the possible psychological harms that us poor dears might suffer — even though the NEJM paper by Topol that was just published blew up this pseudoscientific concept of “psychological harm from your genome sequence”.

  • Chris T

    This is utterly blatant attempt to enrich AMA members. How the FDA could maintain credibility if it grants this is beyond me.

  • asdf

    The most important thing you can do as a citizen is to email jeff.shuren@fda.hhs.gov himself with the video and hold him accountable. Enough emails from ordinary people and he will be forced to admit that he did something wrong, wrong, wrong!

  • asdf

    Just to be on the safe side, also try jeff.shuren@fda.hhs.gov

  • Jon Yang

    I am a physician and I apologize on behalf of the AMA. Not in my name!

    To realize how radical the FDA’s proposals are, we are talking about not being able to look at your own genome without a prescription from a doctor. That is a level of lockdown and paternalism previously reserved for addictive controlled substances!

    Genomes are being classed with heroin in terms of danger level. Something is wrong here.

  • Chris T

    once you tell someone they carry variant X, many of the “interpretations” are just a Google away to find a link to a paper, often as not a government funded one.

    Right, the information required to interpret a sequence will be available and impossible to police. The critical part is the sequence itself.

  • Brian Too

    Can you say “unenforceable”?

  • DK

    No worries. On top Indian pharmacies there will be Indian genomic companies. The analysis part can be done at home at you leisure. Yes, it will be very shameful if they ram it though but it won’t be the end of the world.

  • http://gregbiggers.com Greg Biggers

    Power to the people.

    The folks at Genomera will give you a permalink for your 23&me file, and let you use it for participant-driven research.

  • http://www.riverellan.blogspot.com Tom Bri

    This is why I am libertarian. Neither the Reps or Dems can be trusted to leave my body alone. I am a modestly intelligent guy. I imagine I can learn enough about any topic I am interested in to make my own decisions.

  • http://cxlxmxrx.blogspot.com Chris

    There is some (non-legal) precedent for this as many labs will not release to you the results of blood work, only to your primary care provider. But this is not a justification as these precedents should be overturned as well.

    My point here is that, in making this issue public, you are going to come up against the argument that the trained primary provider is the only one qualified not to interpret the data, but to make meaningful and non-harmful suggestions about appropriate health interventions. Readers here need to think through their responses to this issue and be ready with them.

    Don’t just write your representative, write everyone: your congress-critters and the ones sitting on the appropriate committees as well. Tell them who you donate money to if appropriate. Also if you have connections to groups like unions or non-profits, make your thoughts known to them as well.

    Also, remember that this is about politics and not law. It may be that this law will only forbid interpretation of data, but there could be another one down the road that will forbid getting the raw data, too. I had to travel out of state in order to collect and mail my 23andMe sample legally!!

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  • SJ

    The FDA regulates anything that is construed as a “medical device”. This includes laboratory tests (even routine bloodwork). Prior to the days of regulatory oversight of clinical labs, there were many instances of shady operations providing shoddy tests. The old system had very real, deleterious consequences for individuals. As a result, Congress passed legislation called CLIA to regulate who could provide medical tests, and who could interpret them. The way many companies are marketing SNP array data in the DTC realm leaves no doubt that they intend to provide “medical” information and interpretation. Frankly, if these tests are going to be used for “medical” purposes I think such regulation is warranted.

    I don’t think the FDA is going to ban anyone from accessing their raw data if it is used for “non-medical” purposes (which I gather is what has got everyone so upset). There is of course, a lot of gray area in these definitions, I concede. But the line has to be drawn somewhere, and laboratory testing has improved greatly since stringent oversight was imposed in the 1980s.

    Also, for full disclosure, I am an MD with an interest in genomic medicine.

  • Anna

    but to make meaningful and non-harmful suggestions about appropriate health interventions. Readers here need to think through their responses to this issue and be ready with them.

    Well, WebMD and Google aren’t illegal yet at least. A doctor spends at most 10 minutes on your health, you spend your whole life. Most of the decisions about appropriate health interventions will be made by you.

  • Anna

    But the line has to be drawn somewhere

    Let everyone draw their own line. You don’t want a genome sequence? Don’t get one. But hands off my uterus, and hands off my goddamn DNA.

  • http://blogs.discovermagazine.com/gnxp Razib Khan

    Also, for full disclosure, I am an MD with an interest in genomic medicine.

    do you think your colleagues are competent to serve as gatekeepers to this information? my personal experience with MDs is you guys don’t know jack shit about this. granted, you’re busy people, but who the fuck cares. you’re taking on the responsibility to knowing basically everything. that’s why you get paid the big bucks.

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  • Chris T

    SJ – Providing oversight for safety and efficacy is not the same as forcing people to go through doctors to get information about themselves. Why isn’t it enough that labs have to comply with FDA standards?

  • SJ

    In response to Razib:

    No, I do not think most physicians are competent in interpreting genomic data. But then again, most physicians can’t read a CT scan, perform neurosurgery, or interpret a prostate biopsy. There are specialties within medicine that deal with these areas of expertise that require years of training. And the specialty I happen to be in deals with the interpretation of complex laboratory tests. We are still a few years away form being able to provide good interpretations of this data (due to the medical relevance being uncertain for most of these polymorphisms–a lack of good genotype-phenotype correlation in other words), but we will get there, and there will be trained physicians competent to interpret that information when we do.

    As an example of this, take the CYP2c19 polymorphism that is predicted to confer Plavix resistence and increased risk of death after heart attack for affected individuals. These data were based on several GWAS studies over the last few years, and 23andme will tell you as much on their website (I know because I have this polymorphism). However, new data is emerging that CYP2C19 is not really relevant to Plavix resistence, but another gene, PON1, is more likely to confer the risk. Very confusing for even geneticists to interpret, let alone doctors or laypeople. Yet it is being conveyed as solid medical evidence at 23andme.

    Furthermore, all CLIA certified operations have to pass very stringent proficiency testing to maintain their certification. There is no such oversight for DTC operations, and no way to ensure that the testing is actually accurate and reproducible (I have heard through the grapevine that there is poor inter-lab correlation for many of these DTC SNP arrays). Fine for those who just want to gander at their genetic history out of curiosity, but not fine for people who want medically relevant information.

    I have no problem with people accessing their genetic information (I’ve done it myself, and encouraged my friends and family to as well). What I don’t like is the way the information that can be gained from these lab tests is being advertised to consumers as “medical”.

  • Chris T

    There is no such oversight for DTC operations, and no way to ensure that the testing is actually accurate and reproducible (I have heard through the grapevine that there is poor inter-lab correlation for many of these DTC SNP arrays). Fine for those who just want to gander at their genetic history out of curiosity, but not fine for people who want medically relevant information.

    This is not what people here are angry about. We’re angry that the FDA is considering regulations that would force anyone interested in getting genetically tested to get a Dr’s permission to even request a test. Ensuring lab efficacy and safety is one thing; telling people they’re not competent enough to order testing on their own is something altogether different.

  • http://www.pqdna.com Andre Gous

    Thank you for your lucid, righteously angry and principled assessment. I am glad I don’t have to fight this battle all by myself. I started this in February. For details, please see my Web page on this subject:

    http://www.pqdna.com/hjsasp/gn02.cfm?ID=087913282360.

    The sub-heading thereof deserves mention here: “The FDA Should Go the Way of the Berlin Wall…in the Same Manner and for Similar Reasons.”

    Andre Gous
    Precision Quality DNA

  • SJ

    To Chris T

    I am not an expert on the legal issues, but I don’t think the FDA can stop someone form ordering a test, provided they pay for it out of pocket (they can deny Medicare reimbursement). And I personally don’t think any doctor will ever stop someone from getting such a test. All the buzz these days is about how in the future every patient will get a whole genome sequence that will be part of the medical record, so it’s not like anyone in the medical establishment is trying to bury genomic information. Personally, I think the whole DTC genetic testing thing is just a flash in the pan, as it will be a routine test that can be ordered someday by doctors, and that will be fully reimbursed by insurers. Frankly, most of the feedback I have heard is in the opposite direction–many patients fear such information will be potentially harmful and don’t want it (or at least don’t want it in the wrong hands). You guys here are at the other end of the spectrum.

  • http://blogs.discovermagazine.com/gnxp Razib Khan

    Personally, I think the whole DTC genetic testing thing is just a flash in the pan, as it will be a routine test that can be ordered someday by doctors, and that will be fully reimbursed by insurers.

    what’s your wager in terms of % of your year income as to the short-term outcomes on offer? e.g., 20% of your income you bet (lose or gain) that the FDA won’t bother sequencing/typing firms who don’t offer interp services. i’m trying to get a sense of your confidence in your assertions. you can give probabilities too.

  • http://blogs.discovermagazine.com/gnxp Razib Khan

    Frankly, most of the feedback I have heard is in the opposite direction–many patients fear such information will be potentially harmful and don’t want it (or at least don’t want it in the wrong hands). You guys here are at the other end of the spectrum.

    this is true, but irrelevant. people have a right to see their own data on their own terms, and, people have a right not to, if they so choose. i’m not even making utilitarian claims here. i have the will and means to evade any regulations which might constrain me, i am angered that governmental powers would presume to infringe upon what i see as a fundamental right. i believe that most who don’t choose to see their own data would still defend the idea that the person who has the first and priority right to see their own genome is the person who is sequenced/typed, with a minimal level of intermediation. we can have a separate argument about fraudulent claims, but that’s an old debate which extents into the whole “supplement” industry.

  • SJ

    I’m not a lawyer, and I don’t fully comprehend the scope of regulatory oversight the FDA has with regards to DTC (as defined by law), so I can’t offer you probabilities on what will happen in the near future. I do think whole genome sequencing will be a routine clinical test within 10 years, and I don’t think a doctor has any right to withhold the information from you, legally or ethically, so in the long term it’s a moot point. 90% chance of that, I’d say.

  • http://cxlxmxrx.blogspot.com Chris

    I think the issue here is how the debate should be framed. Information about our genes should not be regulated as a medical device. The protections afforded from potent chemotherapy and MRIs are not appropriate for data. I vote for framing the debate like this-
    food : nutrition labeling and education :: genetics : ??????

    A longer post about this is at my blog: http://cxlxmxrx.blogspot.com/2011/03/genetics-doctors-calories.html

    Also, note that the Congressional hearings have not been about the right of the consumer to know their own genetic code but about consumer protections from inaccurate testing results and mis-interpretations of the results. Right now, the FDA’s position is “DTC companies are incompetent,” not “DTC companies are evil.” This is why the issue of whether DTC companies are contributing to the body of scientific knowledge–which is really a Red Herring–has been brought up: they are asking whether there is a reason for DTC companies to exist that will justify the harm of their incompetence, i.e., serve a public interest other providing a “medical device.”

    The proper response, as I suggest, is an ideological one about the FDA’s scope and methodology, not to argue on the merits of 23andMe’s Parkinson’s research, which is a losing strategy, I guarantee.

  • SJ

    Chris, I think it’s a bad analogy. If your mother had a lump in her breast, would you send the biopsy to an unregulated DTC company to determine if it were benign or malignant? “Genes”, when used to provide medical services, are no different in this respect from “tissues”. We live in a democracy, and if people would prefer to do that, so be it and the laws should change. Personally, I think it’s potentially harmful to the consumer, and the regulation helps more than it hurts.

  • lkjh

    “no way to ensure that the testing is actually accurate and reproducible (I have heard through the grapevine that there is poor inter-lab correlation for many of these DTC SNP arrays)”

    Actually, it’s been shown several times that the major DTC providers give close to, if not 100% agreement on SNPs in common. It’s the interpretation that sometimes differs, which is not surprising when you consider different factors that might be taken into account in the risk assessment and potentially different sources for baseline risk. None of which is unique to genetic tests. Doctors do this all the time, differently, and don’t have the same transparency or documentation as the reputable DTC companies have to go along with their analysis.

    Often, it seems that the standards at the major DTC companies are a level above the standards employed in traditional medical care. Are most MD-ordered lab tests as accurate – analytically – as SNP genotyping? do they do confirmatory testing? does the medical system adapt quickly when new research invalidates an existing practice? Do doctors provide adequate context and education to their patients? No? So fix your own problems first before making up problems where there are none.

  • http://www.genomesunzipped.org Joe Pickrell

    Furthermore, all CLIA certified operations have to pass very stringent proficiency testing to maintain their certification. There is no such oversight for DTC operations, and no way to ensure that the testing is actually accurate and reproducible (I have heard through the grapevine that there is poor inter-lab correlation for many of these DTC SNP arrays). Fine for those who just want to gander at their genetic history out of curiosity, but not fine for people who want medically relevant information

    FYI, genotyping for 23andme is indeed done in a CLIA certified lab:
    http://www.genetic-future.com/2008/04/23andme-delays-explained.html

  • asdf

    SJ, look, there are 100+ different places that certify medical doctors, but only one place that certifies medical devices.

    Why is that? Why the centralization and the single point of failure?

    In an age of the internet, with instant reviews and price transparency on everything, we do not need a single group of unelected bureaucrats controlling our health for their own purposes.

    The whole point of Yelp, of Amazon, of MetaCritic, and of Google itself is that a single source of information will never give you the entire truth. The FDA’s number one goal is to increase the FDA’s budget, full stop. It has biases and makes a LOT of mistakes.

    But when it makes mistakes, there are no consequences.

    The FDA has approved back scatter scanners and raided raw-milk food stores with guns.
    The FDA has failed to inspect heparin shipments and fallen down on the job on food regulation.
    In fact, the FDA has now lied under oath on videotape, and still you blindly trust them.

    If the FDA were a private certifier like Underwriters Laboratories, it would have been bankrupted for incompetence long ago.

    All we need to do is let a thousand flowers bloom.

    1) First, give Harvard and the Mayo Clinic (and Cambridge, and the National University of Singapore) all the ability to certify medical devices just like they certify medical doctors.

    These institutions are after all the places that the FDA draws it expert reviewers from, because bureaucrats are the third stringers and the real researchers and scientists are the starters.

    This becomes a revenue stream for the certifiers, and now there is competition for user fees from companies because they have a choice. Certifiers have an intent to keep their standards high, but there is a gradation of standards. The FDA no longer has a government issued monopoly. It might start out with high name recognition but suddenly it has to beg for its supper, and can’t just wave a gun around when challenged.

    2) Second, make the FDA opt-out. Any company or individual may choose to not participate in the FDA process. Those that do not go through the FDA have no restrictions on their marketing save that they may not use the label “approved by the FDA”. But they may use the label “approved by Harvard University Medical Licensing” if granted by that licensing body, or even none at all.

    Each person can decide on their own whether to purchase or use a product based on the particular label. I may trust Harvard, you may trust the FDA, someone else might be a Mayo Clinic guy, but the point is that the vetting process does not go away — it just becomes distributed, just like it already is for MDs.

    The fundamental point is that the FDA is supposed to be about protecting you from the big bad companies, but it’s evolved to something that has a weird symbiotic relationship with those companies (aka regulatory capture). It now relies on pharma user fees and defends the “traditional manufacturers” and their monopolies.

    It is also now about protecting you *from yourself*, from your *own decisions*. Screw that. This is a free country, and the “experts” aren’t always right. They told us to lick the radium, to eat a low fat diet high in grains, and that ulcers were caused by stress rather than H. pylori. The lesson is that only you can keep yourself healthy. A doctor looks at your body for 10 minutes a year. You have it your whole life.

  • asdf

    Often, it seems that the standards at the major DTC companies are a level above the standards employed in traditional medical care.

    YES.

    Think about how ludicrous it is to imagine a Federal Software Agency telling Google, Apple, Facebook, and Microsoft how to write their code.

    It’s simply accepted that the people who are, y’know, actually DOING things know a bit more about them.

    Who here graduated from an R1 University? How many of your peers said “I want to be an FDA timeserver when I grow up”? The traditional hierarchy in academia is professor job (or startup if you’re in engineering), then Google/Facebook, then standard industry job.

    “Government job” is so low on the totem pole as to be nonexistent.

    The FDA is run by the same kind of morons who brought us restrictions on toenail clippers on domestic flights. Two specific examples:

    1) Mammaprint’s 510k clearance includes particular serial numbers for its machines; the clearance is invalidated if Mammaprint attempts to service, replace, or scale up its operation in response to demand (see: http://www.accessdata.fda.gov/cdrh_docs/reviews/K070675.pdf). Yes, you read that right — the FDA approval is contingent upon *specific machines*. They evidently haven’t heard of this little thing called “mass production”.

    2) UltraRad recently received a warning letter for failure to do software validation of Microsoft Sharepoint (http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/ucm173977.htm). Say what you will about MS software, but Sharepoint is used in hundreds of millions of computers across the world. Is a biotech supposed to be writing its own bespoke file servers now?

    Basically, the FDA is about idiotic rules, not about quality. When you think FDA, think TSA not CSI.

  • asdf

    Yet it is being conveyed as solid medical evidence at 23andme

    Flat out false. 23andMe explicitly states that its website is not medical advice. You have this idea that the genome will only be used for medicine. It won’t be, anymore that the internet was just used for communicating HTML documents among academics.

    Innovation means doing things outside of your little boxes.

    Given such inaccuracy, you expect us to think that you’re a more trustworthy oracle?

    Look, you want a billing event. I get that, I do! It has little to do with the health of the “patient” (who isn’t even sick!), but hey, you’re in debt, right?

    I’m sympathetic to the idea that doctors are being treated hard in this country. Take it out on the insurance companies, thought, not the public. We bite back.

  • SJ

    @lkjh The interpretation is the thing that matters most, from a medical perspective, and when a doctor provides an interpretation, it is based on years of training and clinical knowledge and he/she puts his legal butt on the line for it. The “interpretations” available from DTC testing are entirely misleading for the most part (and basically have no clinical utility), yet they are marketed in such way as to give the impression that they will provide accurate risk assessments. And yes, nearly all lab tests ordered by doctors have the same stringent oversight and reproducibility (as determined by proficiency testing) as DTC SNP arrays.

    @Joe 23andme is CLIA certified (now), but my understanding is many operations are not.

    @asdf I guess we just have a philosophical difference on the what we think should be regulated. But why stop at medical tests, then? Also, there are not “100s” of agencies certifying doctors–each state has a board which grants licenses to practice in that state. If you are referring to specific training programs, than the programs themselves must be licensed to produce doctors by a governing body.

  • asdf

    SJ: You don’t seem to have come to terms with the fact that you just saw a federal regulator lie under oath before Congress.

    Why do you trust them so naively, again?

  • asdf

    > If you are referring to specific training programs, than the programs themselves must be licensed to produce doctors by a governing body.

    The point is that there is a gradation of doctor quality, ranging from Harvard Medical School through Directional State, all the way down to Caribbean U.

    Doctors can also have differences of opinion. It’s called a second opinion.

    There’s no second opinion on devices or drugs unless you go out of the country. That’s dumb.

  • http://cxlxmxrx.blogspot.com Chris

    “If your mother had a lump in her breast, would you send the biopsy to an unregulated DTC company to determine if it were benign or malignant?”

    SJ,
    Two responses:
    (1) This is a false dichotomy. The issue isn’t whether DTC companies should be regulated but how. Should the regulation be like “the consumer can’t use this unless an MD approves” or “the consumer requires assurance that the companies’ claims are truthful”? Nobody is arguing in favor of “back-alley genetic testing”.
    (2) Your question has nothing to do with DTC company genomics. You are talking about a medical diagnosis for an acute condition. 23andMe et al. is providing non-diagnostic information about possible future risks.

    Sometimes when patients are transferred to our hospital for higher level of care, we repeat diagnostic tests already performed at the transferring facility. Doctors like to see labs and radiology results from the places they are familiar with. Knowing that, I would never perform a biopsy on my mother, send it to a lab, and then take her to the doctor after. But this has everything to do with the way doctors work and nothing to do with my confidence in labs.

  • http://cxlxmxrx.blogspot.com Chris

    SJ,
    “However, new data is emerging that CYP2C19 is not really relevant to Plavix resistence, but another gene, PON1, is more likely to confer the risk. Very confusing for even geneticists to interpret, let alone doctors or laypeople. Yet it is being conveyed as solid medical evidence at 23andme.”

    So the situation we are imagining is that someone with a coronary stent and possible PON1 resistance logs into 23andMe, sees this updated info and thinks “well, I guess I can stop taking my Plavix ’cause it’s not doing me any good” and then the stent occludes again because it turns out the PON1 info on 23and Me is wrong, right?

    You honestly think this justifies shutting down the entire DTC genetic industry (that is what we’re talking about here)? Patients get very specific information about not stopping their Plavix under any circumstances whatsoever. If they are the type to choose to ignore that advice, then they are the type to choose to ignore that advice–this is the same patient who is going to cut their pills in half when the subscription runs low, etc.

    Anyhow, what about the good done for the patient who, say, sees the PON1 info and has their cardiologist appointment bumped up because they’re worried? I understand the principle of primum non nocere, but this is guidance for the health care provider’s recommendations to the patient, not an over-arching life principle to supplant cost-benefit analysis in public policy making.

  • http://cxlxmxrx.blogspot.com Chris

    To all readers,

    In case you made this mistake, too…

    One thing I just noticed was the timeline. This video is not from the hearings of the last two days. Furthermore, the period during which the FDA was accepting comments about this issue closed on March 1st. In other words, we are now, probably, in the position of having to change the status quo instead of defending the status quo. Much harder prospect. Much more concerted effort required. Good luck.

  • asdf

    Chris: no official rullings have been issued yet. If the MSM gets ahold of this, it means at a minimum Shuren’s resignation. That will bring this crazy train to a shuddering halt.

    The only thing that matters is getting as many reporters as possible to email jeff.shuren@fda.hhs.gov and ask for comment. One story that calls him out by name and the dam breaks.

  • http://www.genomesunzipped.org Joe Pickrell

    @Joe 23andme is CLIA certified (now), but my understanding is many operations are not.

    Decode is CLIA-certified:
    http://www.decodeyou.com/announcing-the-new-decode/

    Pathway as well:
    https://www.pathway.com/more_info/on_site_lab

    Which ones do you mean? It’s pretty easy these days to call a SNP very accurately.

  • John Emerson

    Who here graduated from an R1 University? How many of your peers said “I want to be an FDA timeserver when I grow up”? The traditional hierarchy in academia is professor job (or startup if you’re in engineering), then Google/Facebook, then standard industry job.

    What’s your point? A lot of the most ambitious MDs go into plastic surgery, because there’s a LOT of money there. Some go into weight-loss medicine for the same reason.

    High-achievers are so obsessed with success and hierarchies that it warps their judgment, especially if they’re free-marketers, libertarians, or futurists.

  • SJ

    To Chris

    Interrogating information from a breast mass versus DNA from epithelial cells is not so different. In each case, we are using an individual’s biologic material to inform us about that person’s health. The definitions of”diagnosing” and “acute” are less clear than you think…many genetic disorders can be diagnosed by simple tests, and information gained from these tests has the potential inform about real disease risks, just like any other medical test, biopsies included.

    I actually would have no problem with anything these DTC outfits are doing if they offered no interpretation, had no advertising claiming to offer you information on “health and disease”, and did not put relative risks in big, bold numbers next to disease names. But then they wouldn’t really have much of a business model, would they? The companies exist to make money, and they overstate and mislead as much as they can get away with to get more customers. As far as I know, no one makes you pay for nutrition label information. When 23andme starts giving away genotype information for free, we can consider that an apt analogy. And I would like to see the average person try to read their SNP data to parse what it means. Maybe you are well versed in genetics and don’t need a “RD” to intepret, but that’s not true for the vast majority of users of these services.

    And yes, eventually someone will do something based on the information form these services that will cause them to get hurt. Not very likely, but it will happen at some point. No amount of token disclaimers should absolve these services from the responsibility to provide accurate information in a medically relevant manner, especially if they are portraying it as such implicitly.

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  • gcochran

    If the Feds fully understood the implications of widespread genomic knowledge, they’d ban gene sequencing altogether. There are some things Americans were not meant to know.

  • SJ

    “Which ones do you mean? It’s pretty easy these days to call a SNP very accurately.”

    I imagine many of the anonymous outfits mentioned in the FDA report from last summer (not the big 3) are not CLIA certified, but the information is not transparent, at least from company websites.

    I think you are confused about the role of CLIA. It’s not validating the test per se, but the labs that do them. A test can be 100% accurate, sensitive, and specific, but if the lab does not do it right, or is out and out fraudulent, then it is basically worthless. Seems simple, but there were a lot of problems with this before CLIA.

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  • http://www.wired.com/wiredscience/geneticfuture/ Daniel MacArthur

    Furthermore, all CLIA certified operations have to pass very stringent proficiency testing to maintain their certification. There is no such oversight for DTC operations,

    Joe has already noted that 23andMe, deCODEme and Pathway are CLIA-certified. I can tell you that Navigenics is as well. You’re right that some of the scurrilous operators aren’t CLIA-licensed, and that should be stopped – but that isn’t the responsibility of the FDA.

    Even those of us who oppose FDA involvement in DTC typically agree that regulation of analytic validity is important (CLIA is actually a terrible system in many ways, but there currently isn’t a viable alternative). We also believe that companies should be punished by the FTC if they engage in false or unethical advertising. This isn’t about regulation vs anarchy; it’s about paternalistic, unnecessary regulation that will destroy an industry and harm consumers vs sensible regulation that will protect consumers without crippling innovation.

    and no way to ensure that the testing is actually accurate and reproducible (I have heard through the grapevine that there is poor inter-lab correlation for many of these DTC SNP arrays).

    This is absolutely wrong. Comparisons between 23andMe and deCODEme data, for instance, routinely show concordance of >99.9%. When I compared the 23andMe and deCODEme files of Times journalist Mark Henderson last year I found a discrepancy rate of around 1 in 14,000 – substantially better than the vast majority of routine clinical tests.

  • SJ

    “This is absolutely wrong. Comparisons between 23andMe and deCODEme data, for instance, routinely show concordance of >99.9%. When I compared the 23andMe and deCODEme files of Times journalist Mark Henderson last year I found a discrepancy rate of around 1 in 14,000 – substantially better than the vast majority of routine clinical tests.”

    I misstated– discordance is not in SNP expression, but the relative risks the companies spit out, which is the more important data to the patient/consumer.

    Pray tell, what “innovation” is coming out of the private sector DTCs (don’t point me to the 23andme PLoS Genetics paper from last summer)? Last I checked, the innovation was still all in the academic sphere WRT actually making clinical sense of any of this information.

    Also, since when is protecting an industry a criterion that the FDA (or any regulatory agency) should consider when evaluating new services/tests? I thought protecting the consumer/patient was the idea?

  • http://www.genomesunzipped.org Joe Pickrell

    Pray tell, what “innovation” is coming out of the private sector DTCs (don’t point me to the 23andme PLoS Genetics paper from last summer)? Last I checked, the innovation was still all in the academic sphere WRT actually making clinical sense of any of this information.

    What’s wrong with the PLoS paper?

    It’s certainly fair to say that academic research (and DeCode’s research arm) has found more genes involved in disease than 23andme; is that what you’re saying? I don’t think anyone will disagree with you (though it’s obviously an unfair comparison, given that 23andme is a single company founded less than 5 years ago).

    23andme has pioneered a participant-driven research program, as outlined in the PLoS paper. You can say it’s not the type of innovation you like, but it’s certainly innovative.

    They also have a very intuitive interface for displaying diseases risks and explaining the relative roles of genetics and the environment in a given disease to the consumer. I consider this innovative, and obviously no academic lab has anything similar (or really cares to, since data is not returned to the study participants to begin with).

  • http://blogs.discovermagazine.com/gnxp Razib Khan

    great exchanges!

  • asdf

    What’s your point?

    The point is that the people who are seeking to regulate the human genome are the least competent scientists out there.

    This matters.

    Imagine if a bunch of community college grads got together to tell Google how to code. Why do we think the laziest, dumbest graduates — the ones who go into government at a time when sequencing is massively expanding! — should be able to control the fate of the industry from an armchair?

    I must have missed it when Jeff Shuren, Elizabeth Mansfield, Caroline Harper, or Alberto Gutierrez taught genome sequencing at Harvard University. The head honchos here are basically secretaries with zero domain experience, but they sure do want you to respect their author-i-tay.

    It’s like, do you want Steve Jobs running this thing (who did the Homebrew Computer Club in the late 70s) or do you want some moron in DC who checks out at 5? And do you realize that the DIY Bio community — who this idiotic regulation is squarely aimed at — is the modern equivalent of the Homebrew Computer Club?

    If you have dealt with the FDA people they are just complete idiots. It’s literally like explaining automotive engineering to the DMV, or asking a TSA official why two 3 ounce bottles rather than a 6. Ain’t exactly Oxford Nanopore!

    Shuren has his rigid checkboxes that were written decades ago, and you are going to check them by god, and you are going to pay the FDA colossal user fees for years of delays. In fact, you’re lucky if the particular set of arcane rules you need to navigate are expressed in the industry equivalent of 3-inch floppies and fax numbers; most of the time you are dealing with regulations that precede the computer age entirely!

    Everyone has violated some law. There are just too many of them and they are too arcane. Like the Soviet Union, everyone is then a criminal, and they can just selectively enforce things they never have before (e.g disallowing use of RUO reagents by clinical labs!).

    Fail to do it and they just cite you for having an adulterated device and molesting children to boot. Complain to the public and they crucify you for all time for threatening their budget (which is one of the reasons you never hear anything bad about them from actual inventors, who know a thing or two about bringing a product to market).

    And if your innovation truly has no precedents, well, then you need to wait years and spend $200 million plus for PMA clearance.

    Basically, the only people who have romantic notions about the FDA’s great erudition and ability to protect the public are the ones who don’t know what 21 CFR part 11 is.

  • asdf

    Also, since when is protecting an industry a criterion that the FDA (or any regulatory agency) should consider when evaluating new services/tests? I thought protecting the consumer/patient was the idea?

    Umm, dude:

    1) Who actually invents the cures and devices? Not the FDA.

    2) How exactly are you “protecting the consumer” by requiring a prescription to see your own genome sequence? Last I checked, your own DNA isn’t exactly heroin.

    3) Finally, this isn’t about “protecting the industry”, it’s simply about not destroying it out of pique. The FDA is about to drive the 21st century equivalent of the Homebrew Computer Club — the DIY Bio community — overseas!

    The Homebrew Computer Club wasn’t much to look at back in the late 1970s. What were computers good for? Today of course Apple is the 2nd most valuable company in the world.

    People ask where the jobs are going to come from. The genome is a pretty good bet. But because of Shuren and the guilds like the AMA, those jobs aren’t going to be in the US.

  • http://www.wired.com/wiredscience/geneticfuture/ Daniel MacArthur

    Pray tell, what “innovation” is coming out of the private sector DTCs (don’t point me to the 23andme PLoS Genetics paper from last summer)? Last I checked, the innovation was still all in the academic sphere WRT actually making clinical sense of any of this information.

    Joe has already tackled this pretty well. Feel free to point us to an interface designed by academic scientists that allows non-experts to make sense of genetic information, or a model for research participant engagement that is more successful than the one 23andMe has built. Yet both of those areas will be crucial for the future of genomic medicine.

    That’s not to say academia doesn’t innovate (as an academic scientist myself, that would be a rather self-destructive line to take). However, funding in academia is never as tightly connected to real-world productivity as it is in private industry. For better or worse, our measure of success is writing papers, not creating useful products.

    Also, since when is protecting an industry a criterion that the FDA (or any regulatory agency) should consider when evaluating new services/tests? I thought protecting the consumer/patient was the idea?

    Of course the FDA needs to consider its impact on industry; if you gave an organisation the unqualified mandate to protect the public at all costs, its safest route would be to simply prevent any new technology from being developed. Fortunately, the FDA’s Office of Planning is tasked with conducting “economic analyses of all important proposed and final regulations issued by the FDA“. Less fortunately, the FDA claims that it doesn’t need to conduct such analyses before crushing DTC genomics, because doing so doesn’t require any “new rules and regulations”.

    You should read Obama’s recent op-ed in the Wall Street Journal, then come back to this conversation. He makes it very clear that regulation needs to balance public protection and damage to innovation.

  • Jane Galt

    Also, since when is protecting an industry a criterion that the FDA (or any regulatory agency) should consider when evaluating new services/tests?

    Maybe you should ask Jeffrey Shuren why he wants to protect “traditional manufacturers” from startups.

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  • SJ

    I am dubious of claims about how “crucial” the programs being initiated by 23andme are to the public sphere. What is so innovative about making pictograms to describe genetic risk? I think other projects like 1000genomes and PGP will be the standard in terms of quality of data and scholarship, and they will be the ones that will really drive innovation in this science. 23andme exists to make money, not produce knowledge, and while the two can co-exist sometimes, I don’t see it working out well in this case.

    Some of you are conflating protecting innovation with providing extraordinary protections for DTC companies. The FDA is simply extending its already existing policies to DTC. I don’t see why they should be afforded special exemptions that the rest of the medical testing world does not get. I like innovation too, but the FDA now has to make a difficult decision on whether breaking policy for this technology is in the best interests of the consumer and society at large, not whether it is in the “interest of the industry”.

  • http://www.genomesunzipped.org Joe Pickrell

    I think other projects like 1000genomes and PGP will be the standard in terms of quality of data and scholarship

    The 1000 Genomes Project does not collect phenotype data on anybody, nor (to my knowledge) do they intend to.

    The PGP is a fantastic idea (I’m part of the PGP1000). So what if I donate $200 dollars to the PGP and get my SNP chip results along with some interpretation of the results (they ask what you’re willing to donate; $200 is what I said because I’m cheap)? You have no issue with that? Should the FDA?

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  • Fingerhut

    And this is precisely why I get all my routine bloodwork done when I am outside the United States. You can do this is pretty much every Latin American or Asian country (check online for recommendations). You walk into a lab and say, hey give me the test package. They test liver function, kidney function, cholesterol, blood sugar, etc. They give me a printout. I have my records for the past 10 years. Invaluable. And I know what it means. The ONLY people that pay for tests like this are people who spend the time to understand them. I am yet to have a doctor, here in the United States, explain cholesterol to me better than I have read for myself off Google/Wikipedia.

    Not only should genetic testing be open, the AMA’s claws need to be pried off of all routine blood/urine/ultrasound tests. This is plain and simple anti-capitalist evilness from the AMA, they are a cartel like the oil cartel and this form of behavior should be illegal under antitrust laws. Are they regulated BTW? Some antitrust watchdog needs to monitor folks like these.

  • http://www.teapartynews.net George

    I like the idea of releasing your 23andMe genetic information as a form of public protest. I recently got mine as well from 23andMe, so that makes me think that a group of people who are against restriction to this information could get together and all post theirs as a form of protest.

    Thoughts?

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  • Cmdr. Awesome

    I am dubious of claims about how “crucial” the programs being initiated by 23andme are to the public sphere. What is so innovative about making pictograms to describe genetic risk? I think other projects like 1000genomes and PGP will be the standard in terms of quality of data and scholarship, and they will be the ones that will really drive innovation in this science. 23andme exists to make money, not produce knowledge, and while the two can co-exist sometimes, I don’t see it working out well in this case.

    Perhaps this is out of line on this blog – apologies if it is! I would suggest in response to this that one of the most important functions these companies are going to perform in the near to mid-range future is popularization and familiarization of the public with genetics and their own genetic data.

    There is a great deal of uncertainty and fear about genetic testing in the public now (much of it I fear is media-fed, as well.) Having read all of these posts I feel there are points to be made on both sides of the argument in terms of regulation of the quality of results, freedom of the individual to seek testing, preventing fraudulent or shady companies from making excessive medical claims/using scare tactics/whatever, etc. But I do believe that at the very least, companies like 23andme are making (or will make it, choose your own tense here) genetic testing less of a boogieman to the public. And that, truly, is important.

  • Mark Houston

    What can I say – One country’s loss, is another country’s gain.

    South China Morning Post (Hong Kong)

    HK to become world genomics research hub

    Mainland gives huge talent advantage

    Fiona Tam

    Dec 27, 2010

    Hong Kong is poised to become an international gene sequencing and genomics research hub, thanks to Beijing’s drive to turn the country into an international science powerhouse by 2020.

    Already it is housing some of the world’s most powerful supercomputers and gene sequencers, the result of the mainland’s dominant genomic company, BGI, using the city to host its key laboratory.

    Working at the blinding speed of supercomputers, BGI Hong Kong will theoretically be able to sequence 1,300 human genomes every day. By comparison, the Human Genome Project took more than 10 years to unravel the human genome.

    “To put that in perspective, [BGI] has about the same capacity as the three largest genome centres in the United States, including the Broad Institute, Washington University and Baylor College of Medicine combined,” said Kevin Davies, editor-in-chief of the American magazine Bio-IT World. BGI was also much larger than Asia’s other DNA sequencing centres, Davies said, referring to Macrogen in South Korea and NIG and Kazusa in Japan.

    Gene sequencing is a research tool and the basis of biotechnology. For example, in medicine, it helps to identify genetic abnormalities and hereditary diseases, and to produce new drugs. In agriculture, the genes of crops are modified to enhance desirable features and eliminate undesirable ones. In biology, researchers study the evolution of organisms by pinpointing their genetic mutations, or changes in the genetic sequences that were passed on to the next generation by natural selection.

    An old printing factory on Tai Po Industrial Estate now houses BGI Hong Kong’s four-storey laboratory, which is engaged in an unparalleled DNA sequencing project that may grab global attention; earlier discoveries from its parent institute, BGI, have already been published in some of the world’s leading scientific journals, such as Nature and Science.

    Inside, Alex Wong Lap-chi, executive director of BGI Hong Kong, presides over the laboratory’s 58 Illumina next-generation sequencers. Each costs about 3.4 million yuan (HK$4 million). Another 57 HiSeq 2000 advanced gene sequencers would be shipped from the US by the end of January, he said.

    When all those genome analysers are running around the clock, electricity for the computer and cooling systems alone will cost 9 million yuan a year. The analysers will be supported by another 22 on the mainland, backed by 1,500 bioinformatics specialists working mainly in Shenzhen.

    The world has already seen some of BGI’s capabilities. In March, the cover pages of Nature reported on its sequencing of an ancient human genome, 4,000-year-old extinct Palaeo-Eskimo remains from Greenland. Last year, Nature featured BGI’s draft sequencing of the genome of three-year-old female panda Jing Jing, one of the Beijing Olympics mascots.

    At present, BGI is aiming to sequence the genomes of 1,000 plants and animals and 10,000 microbes to expand its own database of genomic information. It has launched an ambitious but controversial project to hunt for the genes responsible for human intelligence.

    It is also undertaking sequencing projects for profit to pay back a 10 billion yuan bank loan. The institute has already scored one important client – the pharmaceutical company Merck, which announced a five-year deal with BGI two months ago. Other drug firms such as GlaxoSmithKline, Pfizer, Lilly and Novartis have also shown interest in the Hong Kong facility.

    Genomics is among the physical sciences that Beijing wants to champion as an industrial policy goal, and BGI is at the forefront of genomic science on the mainland.

    BGI started life as the Beijing Genomics Institute. The central government set it up in Beijing in 1999 when it decided to join the international Human Genome Project and sequenced 1 per cent of the total human genome. BGI relocated its headquarters to Shenzhen in 2007.

    In April this year, the institute set up its Hong Kong sequencing centre, financed with part of a 10 billion yuan low-interest loan from the state-run China Development Bank. The Hong Kong centre is to handle most of the institute’s international genomics business, taking advantage of the city’s scientific research capability and easier customs facilities for importing biological specimens such as blood, tissue and urine.

    BGI now has a staff of 3,000 at six research centres across the mainland, Hong Kong and centres in Boston and Copenhagen. About 100 bioinformatics specialists work at the Hong Kong facility and about 1,500 at BGI’s Shenzhen headquarters to analyse and interpret the reams of DNA data churned out by the sequencers.

    Those 1,600 specialists are a huge asset, says Sumio Sugano, bioscience professor at the University of Tokyo. “They are all under 30 and these young brains with world-top capability of sequencing and computing power could make BGI the future Apple, Microsoft or Google in the genomics field,” Sugano said, and the influence could reach beyond medicine to agriculture and green energy.

    No single institute in the US or Europe can afford 1,600 bioinformatics specialists, but the mainland’s cheaper labour market makes it possible. Labour is usually about one-third of the cost of sequencing (reagents, computing and capital expenditure make up the rest).

    BGI is hiring Chinese specialists in computer science, biology, mathematics, statistics and genetics at about one-fifth the price its US and European counterparts must pay.

    BGI technology director Li Jingxiang said it was difficult to recruit bioinformatics specialists in Hong Kong because many fresh graduates with related backgrounds joined the financial sector. And because technicians in Hong Kong cost more than BGI is used to paying, the number of such specialists will be kept to a minimum in Tai Po, with most IT work done in Shenzhen.

    Not everyone is impressed with BGI. Pseudo-science debunker Dr Fang Shimin , better known as Fang Zhouzi , said large-scale sequencing resembled a labour-intensive Henry Ford assembly line. While acknowledging that information generated from DNA sequencing is very useful for geneticists and biologists, he said sequencing simply was not an innovative activity.

    “Basically, genome analysers will sequence automatically as long as you can afford these expensive machines,” the Beijing-based biological chemist said. “BGI’s work is more like a transcriber that simply copies down crude DNA data from organisms, but that doesn’t mean BGI understands what it is writing about.”

    But biology professor Samuel Sun Sai-ming from the Chinese University of Hong Kong said he was confident BGI could make major contributions. It would not mean much to genomic science if BGI simply sequenced DNA alone, Sun said. “But BGI has thousands of bioinformatics specialists to manage, analyse and interpret the huge amount of DNA sequence data, making biological sense of the DNA sequences. It can mine the data and make discoveries in biological and medical sciences and for further applications.”

    Kelvin Lee, a professor of chemical engineering at the University of Delaware, said that because life-sciences research relied heavily on access to large amounts of high-quality sequencing data, BGI was capable of providing the foundation of knowledge needed for the study of genomics to move forward this century.

    Last year, BGI launched a 400,000 hectare project with the government of Laos, exploring the possibility of turning genetically modified plants such as cassava, sugar cane, oil palm and castor oil into food, biological alcohol or diesel oil within five years.

    Yin Ye , a BGI vice-president, said the institute’s ambitions included cutting the cost of sequencing a human genome from less than US$10,000 this year to US$2,000 – and eventually to an affordable level for everyone. The Human Genome Project, which published its first rough sequence of mankind’s genetic code in 2001, cost an estimated US$3 billion.

    Jay Flatley, chief executive of the world’s leading genome sequencing company, Illumina, based in California, predicts DNA sequencing will become so cheap that babies born from 2019 onwards will have their genetic code routinely mapped at birth.

    Dennis Lo Yuk-ming, a professor of medicine at Chinese University, hopes the presence of such a large facility will raise Hong Kong’s profile in the global genomics community.

    “BGI’s achievements show that with timely funding, Asian scientists can compete at the highest level on the world stage,” he said.

  • http://cxlxmxrx.blogspot.com Chris

    SJ,

    “As far as I know, no one makes you pay for nutrition label information. When 23andme starts giving away genotype information for free, we can consider that an apt analogy.”

    I think you are not understanding the point of my post on food labels. I am not equating food labels to 23andMe’s interpretations*. I am equating them to the SNP data. It’s an important distinction. My point is that genetic information seems confusing/medical/magical to some people because nobody is used to it. At some future point in time when people get genetics in school starting at a young age, nobody will think it is more odd to evaluate their own genetic code vis-a-vis health risk than people today think it odd to evaluate food labels vis-a-vis health risk–that is, health risk that they know about because the information has percolated through the culture.

    Now, it is true that 23andMe is making you pay for the equivalent of knowing the nutrient content of your steak. HOWEVER, important distinctions are that (1) the technology employed by 23andMe is not readily available to the consumer and (2) the genetic information is specific, while food labels are based on averages. Imagine if (1) the technology needed to know the nutrient content of food was new and expensive or (2) a new technology was created that allowed the consumer to know the nutrient content of the specific steak he was buying rather than an average steak. In this case, there are people who would pay a premium to get this information. Would the FDA be justified in controlling these technologies any more than they control our knowledge of food labels today? No!!!

    It is important to remember that one is not paying 23andMe to interpret data but to produce data.

    Let me repeat that…

    One is not paying 23andMe to interpret data!

    23andMe is selling a whole package the base of which is creating the SNP data. The interpretation is only there because the information about health risk has not yet “percolated through the culture.” Yes, it is true that the interpretation is attracting customers, but it is not the basis of the business model. If it were, they would advertise differently, as in “send us your SNPs from other companies and we will use our proprietary statistical methods to tell you what your TRUE risks.” They aren’t doing this (although this IS the AMA’s business model!!). At some future point in time, everyone will have their genome sequenced, and the fact that 23andMe is only testing certain SNPs will look like the quaintness of early cholesterol analysis technology, not the quaintness of 18th century doctors interpreting urine.

    * If anything, at the current time, 23andMe’s interpretations are more analogous to Cheerios’ claim that it is “heart-healthy.” The FDA has a system for evaluating claims like this rather than disallowing them altogether. That would be more appropriate for DTC genetic testing than shutting down the industry.

    “In each case, we are using an individual’s biologic material to inform us about that person’s health.”

    You’re telling us that identifying active, ongoing expression at the cellular level is the same as defining statistical risk. So, a woman has a breast lump. You biopsy the breast lump and also send a non-lump sample to find BRCA data. The information from these two tests is close enough in your eyes to call them both diagnoses?

    “And yes, eventually someone will do something based on the information from these services that will cause them to get hurt.”

    So what? If a doctor diagnoses a patient with Parkinson’s and the patient commits suicide, do we hold the doctor responsible? What if the diagnosis was in error? Do we hold the doctor responsible then? No, only if the doctor recommends a wrong and hurtful course of action in response to a diagnosis.

    As bloggers pointed out in response to Nancy Wexler’s presentation at the MCGP meeting, there is no data showing a pattern of harm from DTC genetic testing, and this is the only standard from which harm should be inferred. Having to argue this to a doctor is exasperating!!

  • http://cxlxmxrx.blogspot.com Chris

    SJ,

    “The FDA is simply extending its already existing policies to DTC. I don’t see why they should be afforded special exemptions that the rest of the medical testing world does not get.”

    This is factually incorrect and disingenuous. As pointed out in the link below, the move against DTC genetic testing is not bringing genetics in line with existing policy, it is part of the FDA’s attempt to create an entirely new category of regulation that would include, but extend beyond, genetics.

    http://www.genomicslawreport.com/index.php/2010/06/16/breaking-fda-moves-to-broadly-regulate-ldts/

    @ all readers,

    The above is important to understand. For those of you misguided souls who voted for someone you thought was going to increase our freedoms, you need to understand that progressives are and have always been the regulators par excellance. The issue we are discussing now is not a matter of the AMA manipulating the FDA behind the scenes, it is a matter of the modern state doing what it does best. This is why (1) arguing over 23andMe’s Parkinson’s research is pointless as is (2) arguing that you have a “right” to your own genetic information. Representatives of the modern state do not care about either of these things.

    The FDA does not care about your claim to rights because it believes it is not only the final arbiter of what is safe but the final arbiter of what “safety” and “rights” are in any health-related context.

    Thus, the only viable way to save DTC genetic testing is to argue for a lower level of regulation and that a “routed through a clinician” requirement is a standard that hurts the public interest and relies on non-objective/non-empirical information.

    Hence, my letter to the FDA and yours should emphasize that the FDA is not using reliable data in making its decisions and that its regulartory scheme will send this industry overseas in a time of economic crisis.

  • http://contemplationist.wordpress.com Contemplationist

    Insanity like this goes on for many many industries. Its genomics now and so you people notice it. It was children’s toys a few years ago. Yet people call libertarians crazy for railing against the regulatory state. This is regulation in action. Watch it and absorb its process when you understand its awful costs. Now, stop and think whether those hundreds of thousands of rules passed for hundreds of industries are more rational than this. How likely is that? Not bloody likely.

  • http://cxlxmxrx.blogspot.com Chris

    List of mailing addresses, etc for FDA, congressional committees, etc @

    http://cxlxmxrx.blogspot.com/2011/03/dtc-testing-mailing-addresses-etc.html

  • gcochran

    Libertarians _are_ crazy.

  • Glenn Allen Nolen

    “The world has already seen some of BGI’s capabilities. In March, the cover pages of Nature reported on its sequencing of an ancient human genome, 4,000-year-old extinct Palaeo-Eskimo remains from Greenland.”

    Really, no longer existing, I have a Y-DNA SNP match with this Palaeo-Eskimo.

    rs7892842+

    https://www.23andme.com/you/community/thread/5996/

  • http://blogs.discovermagazine.com/gnxp Razib Khan

    were you unfrozen from ice by chance glenn? :-)

  • Glenn Allen Nolen

    No, but I really enjoy cold weather. I live in Texas and the heat is unbearable at times for me.

  • http://occludedsun.wordpress.com Caledonian

    Libertarians _are_ crazy.

    Everyone‘s crazy, hadn’t you noticed?

    It’s nice to see that people will object to abject idiocy, even if it takes a specific threat to their favorite sacred cow to do it.

  • Clark

    You should do a post over at Secular Right about the problem of guilds in America. The medical guild and what it attempts to limit is but one example. Of course one problem is that the congress keeps building up regulations that end up supporting this carefully guarded monopoly.

    Consider, for example, the proposed regulation that would make pseudo-ephederine obtainable only by prescription. This would be a boon for doctors. With my insurance they’d get to collect $25 plus whatever else my insurance pays them just for me to be able to go pay $12 to get some cold medicine.

  • Pingback: Why Is The FDA Moving To Ban You From Freely Accessing Your Genomic Data? « Citizen Renegade()

  • http://www.thepetitionsite.com/1/mydna/ Raymond McCauley

    If you haven’t already, please check out the Personal Access to Genomic Information petition.

  • Pingback: Saturday Stuff – March 12th, 2011 | Gene Expression | Discover Magazine()

  • Pingback: DTC, FDA, regulation, etc. | Gene Expression | Discover Magazine()

  • Andrew

    “The interpretation is the thing that matters most, from a medical perspective, and when a doctor provides an interpretation, it is based on years of training and clinical knowledge . . .”

    No offense, but this sounds pretty archaic, especially when dealing with the technologically advanced subject at hand. Why rely on MD’s to correctly memorize what is needed for “interpretation” when computers are so good at memorizing, correlating and providing output. Is the answer more memorization by sub-specialists or is it just having access to a good computer program? Human-computer chess matches, for example, showed the best computer systems overtaking human chess champions in the late 1990s and computer power has progressed from there.

  • Pingback: Maryland says, no DTC genetic testing for you « Frank Hecker()

  • Pingback: Myriad Genetics May Influence How the FDA Sniffs About Genetic Tests « Pasco Phronesis()

  • Pingback: Why Is The FDA Moving To Ban You From Freely Accessing Your Genomic Data? |()

  • Pingback: Links – March 12, 2011 « C6-H12-O6()

  • Pingback: Stopping YOU from Accessing YOUR Genetic Data()

  • http://www.eggandsperm.org John Howard

    “I am going to release my own 23andMe sequence into the public domain soon. ”

    I’m curious if this means you give permission to be cloned, or for someone to reproduce with you, by making gametes from your genome. Do you think other people have the right to do that?

  • HK

    John Howard: science fiction is not a good basis for science policy.

    Also you don’t have to want to make your genome public domain to want to keep the FDA’s grubby hands off it.

  • http://blogs.discovermagazine.com/gnxp Razib Khan

    I’m curious if this means you give permission to be cloned, or for someone to reproduce with you, by making gametes from your genome. Do you think other people have the right to do that?

    *shrug* i guess? i mean twins don’t have the right to control their twin’s reproduction do they?

  • Pingback: Think twins! | Gene Expression | Discover Magazine()

  • http://www.eggandsperm.org John Howard

    Well, when a twin has a child, we don’t say that both twins had a child, we keep track of which twin had each of their babies and they are the parent of their own babies. But if someone used your genome to reproduce with, they would say that it was your genome, it’d be your baby, the person would say “who is my dad?” and it’d be you, not some hypothetical twin.

    And speaking of hypothetical twins, if you had a twin, would you ask him for permission to put your and his DNA in the public domain?

  • Pingback: The right to know your own DNA()

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Gene Expression

This blog is about evolution, genetics, genomics and their interstices. Please beware that comments are aggressively moderated. Uncivil or churlish comments will likely get you banned immediately, so make any contribution count!

About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at http://www.razib.com

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