People Have A Right To Access Their Own Genetic Information

This week has seen another FDA meeting seeking guidance on how to regulate direct-to-consumer (DTC) genetic tests in the US. The meeting itself has been covered by GNZ bloggers Daniel at Genetic Future and Dan at Genomics Law Report, and its apparent outcome has sparked furious debate elsewhere. The discussion among the “independent” panel convened at the meeting appeared to converge on the proposal that all health-related genomic tests should be ordered and reported through physicians. However, the outcomes of the meeting in terms of FDA policy remain unclear, and one FDA official has indicated that decisions about the availability of genetic tests will be made on a test-by-test basis.

There is no doubt that the appropriate regulation of personal genomics tests is a complex issue, and there is a diversity of opinion about how best to achieve it within GNZ (as there is throughout the genomics community). However, there are several points we agree on:

  • Individuals have a fundamental right to access information about themselves, including genetic information. While it is important to also consider the accuracy, interpretation, validity and utility of tests, this underlying principle should guide policy.
  • There is currently no evidence that DTC genetic tests pose a danger to consumers. A recent study of over 2,000 participants in DTC testing concluded that “testing did not result in any measurable short-term changes in psychological health”. In the absence of any evidence of harm there is no justification for restricting individual autonomy.
  • DNA does not have magical powers, and does not require special treatment simply by virtue of being DNA. Genetic exceptionalism – the idea that genetics must be treated as special under the law – is an inappropriate basis for policy-making. Tests should be regulated appropriately based on their predictive power, utility and potential for harm, all of which are related concepts.
  • As DNA sequencing becomes cheaper, the line between medical and non-medical testing will continue to blur. Excessive regulation of health-related genetic tests could also unncessarily hinder the ability of people to access their entire genome sequences for other purposes (such as genetic genealogy).
  • Most clinicians do not have the appropriate knowledge to interpret genomic tests, particularly in healthy individuals. This point is almost universally agreed, even by the FDA, and has certainly been the experience of some of the GNZ members upon taking our genetic results to doctors. Physicians in general are therefore a strange choice for ‘guardians of the genome’.
  • Most early adopters of DTC genetic tests are sufficiently well-informed to understand the implications of a genomic test and interpret the results correctly. Putting a general physician between these informed individuals and their own genomes is paternalistic and unnecessary.

While the outcome of the FDA’s deliberations remain uncertain, it is clear that there will be intensive lobbying against any attempt at excessive legislation. In the worst case scenario, the fledgling and innovative personal genomics market could be crushed by the FDA. However, there is still plenty of room for a measured approach that enforces test accuracy, punishes false claims and promotes informed choices by consumers, without reducing the ability of responsible companies to continue to operate and innovate.

We urge others in the genomics community to make their voices heard on these issues. Let the FDA – and, if you’re based in the USA, your political representatives – know that regulation of genetic testing should be based on evidence, not fear, and that any attempt to unreasonably restrict your access to your own genetic information is unacceptable.

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27 Responses to “People Have A Right To Access Their Own Genetic Information”

  • Watching that Shuren video, there are only two conclusions one can draw:

    1. Jeffrey Shuren intentionally mislead Congress, claiming that 23andMe was not performing research, and then refusing to correct the misinterpretation even as other Congressmen used it to argue for “strenuous” regulation of 23andMe. In this case he simply cannot be trusted.

    2. Jeffrey Shuren unintentionally mislead Congress, in which case he managed to sleepwalk through the 23andMe talk, even to the point of clapping at the end, without absorbing it, remembering it, or paying attention. This too despite the fact that 23andMe and Pathway Genomics were the primary reasons for the meeting in the first place. If this case is true, he showed extraordinary incompetence.

    Neither mendacity nor rank incompetence is acceptable for the top US regulator in this area. Jeffrey Shuren must resign.

  • -Most early adopters of DTC genetic tests are sufficiently well-informed to understand the implications of a genomic test and interpret the results correctly

    This seems to be a very broad statement.

  • Daniel MacArthur

    Hi Sarah,

    It’s based on a fairly limited data-set, but I don’t think it’s an unreasonable claim. A study of ~1,000 DTC customers presented at the ASHG meeting last year showed that 93-96% of them interpreted risk predictions accurately, and the lack of increased anxiety or short-term behaviour changes seen in the Scripps study indicates that people aren’t over-reacting to their results. Bigger studies are needed, but current evidence suggests that early adopters are heavily self-selected for exactly the types of people who are more likely to be able to interpret the results correctly.

  • @Sarah

    It is also relatively well supported by evidence. At ASHG last year David Kaufman presented the results of a survey of 1048 customers who had taken a DTC test. One finding was that 95% of them could correctly interpret risk predictions from complex traits. There was some caviats to that, though, e.g. people are better at judging factors that increase risk than those that decrease them.

    Couple of press articles about the talk:

  • γνῶθι σεαυτόν

  • “since many current DTC genomic tests are not predictive enough to be used in a clinic, it is misleading to group them all under one banner and treat them as medical tests”

    From a practical standpoint, this is a misguided line of critique since the opposition could easily argue that genetic testing should be regulated now on the likely predictive power it is to have in the near future. The predictive power of testing has no bearing on whether it should be regulated, and this ground should not be ceded to the opposition at all.

    As I have argued at Razib Khan’s site, USG as represented by the FDA does not care about a “right” to your own genetic information any more than it really cares whether 23andMe’s Parkinson’s research is legitimate.

    This issue needs to be argued on the grounds that “routed through a clinician” standard is not based on objective evidence of harm and stands to hurt the public interest by potentially sending this industry overseas.

    No one should cede on any conditions that similar tests such as bloodwork are appropriately “routed through a physician” since they are useful medical tests.

    [DM: Chris, you’re right. We’ve deleted that sentence.]

  • The Kauffman study looks like each DTC test has about a 30% chance of generating a physician visit (~$100) followed by some other tests, which could run into the thousands. It would be interesting to see an analysis of these costs, and if they improve outcomes or are just wasted money by the worried well.

    Neither the for profit DTCs or the DTC patients themselves are paying for these costs, so it’s being spread among all the insurance rate payers.

    There is a fundamental right to affordable health care too.

  • Daniel MacArthur

    Hi Michele,

    Sure, 30% is high. But if everyone interested in genetics has to visit a doctor to get access to their own information, that makes it 100%. So the AMA’s approach is not exactly designed to keep healthcare costs down.

  • It might.

    You would have to estimate how many people would not bother with DTC to avoid the hassle of going to a doctor’s appointment, and how many people would get talked out of the tests by their doctor. Given what happened in the US when pharmaceuticals started being marketed directly to consumers, I would expect a big savings if you could ban DTC marketing.

    You’d have to run the numbers.

    That’s not to say that there aren’t other financial factors at play. Clearly, there is a risk that DTC is going to cause primary physicians to lose money if they are in contracts with their insurance companies where they get financial incentives to keep patient costs down.

  • Daniel MacArthur

    Sure. It would certainly be interesting to see the numbers crunched, so long as it was done without a predetermined outcome in mind.

    From a personal perspective, every person who misses out on an opportunity to learn more about modern genetics and engage with their own health data because a doctor talked them out of it is a tragedy. But if your goal is purely to keep healthcare costs down, then I guess it’s probably good news.

  • Well, we don’t have NHS here. When health care costs go up because rich people have unnecessary tests poor people can’t afford insurance.

    It’d be better to know the numbers.

  • @Michele @Daniel

    Remember that that 30% figure is not the number of additional doctors visits generated from DTC – it is the number of individuals who shared their data with a doctor full-stop. I expect a pretty large fraction of those would have been at routine visits that would have happened anyway.

    To be honest, I find this line of argument somewhat mad. A) it isn’t an argument for regulation, it is (at least) an argument for a change in health resource allocation and (at most) an argument for moving to a healthcare system more consistent with social justice. B) if DTC genetics generates individuals who are more engaged with their own health, and the health system is not able translate this into preventative (and thus money saving) action, then something is going pretty wrong.

  • I think you are being too harsh on the ability of the clinician. After all, regression analysis is the basis for much of clinical epidemiology, and is the lynchpin underlying evidence based medicine. It is naive to assume that physicians won’t be facile in the interpretation of genetic testing by the time useful risk models can actually be constructed (which is still some years away). And providing useful interpretation in an individual context by someone with a thorough understanding of human biology is always better.

  • Ron Worthington

    The vast majority of competent, newly graduated physicians have no clue how to deal with SNP data. That is not their fault. They did not get that course in medical school. Nor are hardly any (except Tufts and who else?) current medical students getting this training. And how about pharmacists? If Walgreens sells a spit box, who is going to help the client to understand what the SNP results mean? And what about nurses, NPs, PAs etc.?

    We need a massive, coordinated education program for all health care professionals, to deal with the data currently possible for each patient, and for the onslaught of new data on the horizon.

  • If they ban DTC genetic tests, why don’t they ban home blood pressure cuffs, or home thermometers, or prevent people from taking their own pulse?

    People misinterpret those things all the time. I don’t see what is wrong with people being allowed to make their own mistakes. That’s how we learn.

    Anyone who cares about the result will educate themselves, anyone who doesn’t is unlikely to have paid for a genetic test!

  • Luke, I’m not really arguing for regulation so much as wondering what the economic impact of a regulated versus an unregulated model is.

    To your second point, I think that the inventions stemming out of genetic testing will be very good but I don’t think it follows that they will save money. I used to crunch numbers on some of these sort of interventions. If the cost of the disease is X and the cost of the intervention is Y then sometimes X is higher, sometimes Y is higher. e.g. You might take a pill for 40 years to avoid dying suddenly in your sleep. That’s a great intervention, but it doesn’t save any money. The numbers just wash out that way.

  • Good people, I respect the reasonable-seeming approach being taken here, but you seem to be conceding the basic premise that the FDA has the moral right to regulate DTC.

    While I don’t agree with the basic some-regulation-is-OK premise, I value your efforts in trying to contain it from stampeding ridiculously far out of any reasonable bounds, as it currently seems likely to do.

    The main concern I have as to your efforts is that, after hearing from enough sources that they have the moral high ground as to regulating DTC, the FDA-AMA crowd seems to be proceeding with impunity on that premise, and I don’t like it.

    I think you are hoping to persuade regulators who (the hearings suggested) lack the sort of judgment or sensitivity by which they would be able to have any clue (by your standards) as to when they would be regulating “too much.” If I had to draw a caricature of the folks who wrote this article, it would be very flattering, with sharply focused eyes radiating the intelligence of mankind’s best. By contrast, my cruel caricature of the FDA-AMA crowd would involve slanted foreheads and dragging knuckles.

    I understand that you’re working on the premise of “some regulation is fine” — not out of a lack of integrity, but because this is something you truly believe in. I don’t intend to debate this divisive issue in this particular forum but I would like to at least point out that there IS a basic alternative to “too much regulation” or “hoping the FDA will arrive at the right amount of regulation” — and that’s “no government regulation — but market-based mechanisms instead.”

    This point of view favors organizations’ survival based on their ability to prove merit and add value. From what I know of this market, I’d hypothesize that clueless clients (the kind that attract scam artists) make up only a small portion of the market. They’re not my target demographic so I don’t have any hard statistics, but it’s probably a pretty good guess. As markets go, the DTC market seems to be exceptionally savvy and insightful, and as industry stakeholders in DTC we seem exceptionally candid and critical amongst ourselves. A “bad apple” operating on flawed premises would soon be identified and justifiably vilified to the extent that a critical prospective client could hardly fail to be aware of the issues.

    My point is that merit in especially this particular market (DTC) would be exceptionally likely to prevail without any government regulation. To put it negatively, as markets go, this is a market in which government regulation is likely to do an exceptional amount of damage relative to any hoped-for merit due to its involvement.

    To put your ideology on the spot, I’d like to ask you a litmus-test question — now that each of us has been stripped of any illusions as to how thoughtful vs. ham-handed DTC regulation is likely to be: even if you believe in regulation on principle, if you had a choice today, would you choose:
    A) the FDA model that might best be personified by a military boot crushing a skull (way too much regulation by your standards)
    B) the market model that has so far been doing splendidly without the FDA regulating us (yes, I know, too little regulation by your standards).

    Option “C” (just the right amount of thoughtful, well-pondered regulation) seems unrealistic after the recent hearings.

    I think it’s coming down to the two “A” and “B” options as the only possible alternatives. If you think that option “B” seems unlikely to prevail (and you probably do) then I’d like to point out that option “B” is the status quo today, and that fighting for the status quo is rarely unrealistic as a tactical premise.

    At the risk of being horribly cynical: worst case, we fight for option “B” for so long and so hard that we delay the passing of draconian FDA regulation until the current President and the Senate are replaced by more market-friendly folks whose FDA then ends up passing the sort of regulation that you were actually hoping for in the first place.

    For a less FDA-friendly elaboration of the above points, please see:

    Should you peruse my company’s Web site you’ll notice the irony that we specifically advise our clients to involve an MD as a formal step in our business model, but that doesn’t mean we’re OK with it being forced on our clients. The client has the right to choose, and if his MD is of the DNA-clueless variety then choosing to bypass his MD might be the wiser thing to do.

    I really hope the FDA backs down because taking my company offshore involves so much extra paperwork yet — and besides, I was getting used to the idea of an American workforce.

    On the subject of America: revolutionary as my free-market ideas might seem, the revolution whose point of view is most compatible with my idea set occurred in 1776, and there was a lot to be said for it.


    Andre Gous
    Precision Quality DNA

  • -we specifically advise our clients to involve an MD as a formal step in our business model

    Who’s paying for that?

  • Indeed, there is a lot of discussion going on, and I cannot really accept the standpoint that regulation is bad, bad, bad and that any and all government regulation or medical personnel needs to keep their ‘hands off my genetic information!’ Amongst all the tempers, should we not all be looking forward to the point where the tests could be conclusively connected with a disease state or does in fact convey medically relevant and timely information to the consumer? Regulation at this point is not meant to only deal with what we know now, but it is also an attempt to deal with what will come.

    I do believe that people have a right to access their own genetic information, it is this splendid part of ourselves that we can now see, learn about and to an extent, connect with our lived experience. However, is it such a bad thing to put in place options, that if a person were to come to a point that they needed help in understanding or interpreting their information, then they could access it, or at least have contact with someone who is familiar with the choices they have made (a health care provider)? A nameless, faceless genetic counsellor on the other end of the phone, who is being paid by the very company whose ‘product’ (as it were) gives me concern, is not exactly a triumphant example of transparency.

    There are plenty of personal reasons for everyone to answer the ‘call to arms’ that is currently going on, but shouldn’t we also pull apart the issues to deal with them in a manner that allows 1) the public to be involved (because a great travesty of last weeks FDA meeting was the distinct absence of the public); 2) all view points to be expressed without a responding attack (and I do enjoy adversarial arguments, but at some point, the mutual engagement is lost – this is made very clear when online posts start to contain profanity) and; 3) all concerned people should attempt to look beyond the personal and acknowledge that not everyone will be made happy by any conclusion, but in the deliberation, we should at least try to allow everyone to be heard.

  • Michele, I can’t quite reconcile your question with the gist of this discussion, so please contact me offline via my Web site to get your question answered, please.

    “mylifemydna” — I appreciate your point as to options being desirable. But, on this premise: in a free market, there tends to be an abundance of just that, and in a regulated market, options are precisely what regulation intends to curb.

    For example, in today’s de facto unregulated DTC market, a client has the option of involving an MD or genetic counselor, whether associated with the DTC company or not, to discuss the client’s concerns in whatever way the two parties agree.

    The agenda of government regulation is typically aimed at removing this sort of thing, to replace it with a one-size-fits all approach. Using the FDA as a general example, and the recent approval of some anti-lupus drug as a specific example: the drug was FDA-approved only after a long, tedious and expensive process. If some drug companies and some of their customers wanted to tell the FDA “we’re opting out, thanks” — there is legally no such option. Similarly, if DTC regulation occurs, and my company and its clients could simply opt out of the FDA’s involvement, that would be a major improvement to what seems to be looming. But leaving options open is rarely the agenda of such regulators …

    I hasten to say that my concerns about government regulation are more fundamental than just this aspect, but even if we just focus on options as a desirable premise, then government regulation doesn’t reconcile with that. For the most part, in the context of government regulation, an abundance of historical evidence shows us that a one-size-fits-all approach tends to be mandated, and that the basis for these mandated standards tends to not be a pretty sight.

    Andre Gous
    CEO, Precision Quality DNA

  • “However, is it such a bad thing to put in place options, that if a person were to come to a point that they needed help in understanding or interpreting their information, then they could access it”

    Fair enough. A person can arrange that themselves. We don’t need a government agency to force us to.

    The FDA is trying to “protect” us from something we don’t need protection for. But there’s something better: It’s called personal responsibility. Some people will be upset at their results, get the wrong end of the stick, but that’s okay – it happens every day in a variety of situations.

    We’ve all said stupid stuff at home, done stupid stuff at work, and thought stupid stuff in school. A few people will think stupid stuff when they read their SNP results. People get upset when a “psychic” tells them something nasty, or when they find out their spouse is cheating – should the government protect us from that?

    If you’re really worried about the results, then you can go to the doctor. They won’t understand it either. The advice will be “eat well, exercise, don’t smoke”.

    By needing to go to the doctor first, it creates a hell of a lot of paper work, and a hell of a lot of unnecessary visits. It wastes consultation time that would be better spent adjusting metformin, treating sick children, and encouraging smoking cessation – the important things.

    This just creates inefficiency – for the customer, for the DTC firm, for the doctor, and for the government regulations. Money and time up in smoke, to protect us from the dangers of D.N.A.

  • Tristan, thank you for your insightful comments.

    The concept of “personal responsibility” — a fundamental premise of life — is the key concept that invalidates the premises for the FDA’s involvement.

    You make a stark and realistic point that there is no perfect situation for everyone, even in the context of personal responsibility. I’d like to add that there is a far-yet-more-imperfect situation if the FDA gets involved.

    The more precisely that an individual makes his decisions, the better the likely results. Most of the very best such decisions, and even the better-than-average decisions, are likely to be made illegal if the FDA has its way.

    If we diagrammatically represent DTC-related decisions by a pyramid, with the very best ones at the top, and the very worst ones at the bottom, then the FDA’s alleged justification for its involvement is to make illegal the very lowest layer, i.e., the very worst decisions, e.g., “I’m going to do no research as to the credibility of a particular DTC company that I’ve never heard of, then I’m going to unquestioningly send them vast amounts of money, then I’m going to uncritically believe everything they say, and then I’m going to make massively far-reaching medical decisions based thereon.”

    The attempt to make illegal such truly bone-headed decisions is the fragile leverage that the FDA is trying to use to justify its involvement. As an example of this mind-set, ponder for a moment the immense precision of thought and effort that the vast majority of DTC companies have put into refining their products and services. And yet, the DTC company that FDA-regulation proponent Nancy Wexler focused on in her rant to vilify DTC is one lone offshore scam outfit. Her train of thought, as I understand it, is that to prevent this sort of thing, the FDA should make all DTC companies illegal. That’s hardly crisp reasoning, yet that’s the fundamental premise used to justify the FDA’s involvement.

    Presumably the FDA will avoid the “kill ’em all” approach advocated by Wexler, but in making illegal the worst type of DTC-related decisions, the FDA also makes illegal the vast majority of the pyramid: the entire upper part, leaving as legally permitted only a very flat lower layer of actions. The odds are small that an individually-made decision as to DTC will happen to coincide precisely with what the FDA will mandate as the only legal way. The better decisions than that, those that don’t match the thin slice of what’s legal, will need to be made illegally or downgraded to what the FDA has endorsed.

    Such a situation would be even worse than it looks at first glance. For example, as the last step in my company’s business model, we suggest that the client discusses his results with an MD. Isn’t that what the AMA is pushing for anyway? Well, yes. But, another part of our business model is to remind our clients that they can’t presume that all MDs are savvy about DNA, or that all MDs will be positive about the concept of a patient exercising personal initiative as to his health. Given the relatively small pool of DNA-savvy and DNA-friendly MDs, our clients have to do their MD selection carefully. If the only MDs available to a client are counterproductive then in that sub-optimal context, the client would be better off avoiding those MDs and finding alternate ways of making his decisions. But, if the involvement of an MD becomes mandated, that decision becomes illegal.

    I understand that some reasonable (but mistaken) people are in favor of a little regulation, but events are headed towards where they will get vastly more regulation than they ever wanted. Even by their own standards, no regulation is far better than where the FDA seems to be headed with DTC.

    I represent the “no government regulation” camp, on the premise that it’s morally wrong for the government to declare illegal a client’s decisions as to DTC. On the practical side, a free market tends to do a great job rewarding the more competent and weeding out the less competent companies. In the context of DTC, with an exceptionally savvy set of participants, I expect that these effects will be amplified.

    Andre Gous
    CEO, Precision Quality DNA

  • Everyone has a right to privacy — including from physicians. It is the individual’s intellectual property, their OWN data, and they have a right to govern how it is used/who sees it.

  • When a genetic test revealed my wife had genetic hemochromatosis I started a blog and Facebook page to help raise awareness of this insidious condition (and offer links to sound information about this much misunderstood condition).

    We are now trying to raise awareness of possible FDA restrictions on direct-to-consumer genetic testing. We think these restrictions would be a big setback for families affected by hemochromatosis or a host of other conditions. If you agree with our statement, we would really appreciate you signing this petition to the FDA:

  • Emma J. Spaulding

    It’s a very interesting argument you’ve put forth. What would you say to someone who suggested that your viewpoint is motivated by your own possible financial gain?

  • Emma,

    There’s a hidden premise behind the question, but first of all, I’ll simply answer the question of “It’s a very interesting argument you’ve put forth. What would you say to someone who suggested that your viewpoint is motivated by your own possible financial gain?”

    I’d ask the person to explain why he thinks the motivation as to financial gain is relevant to the validity of the logic. 2+2=4 whether I gain or not based on the truth of that statement.

    Now, to respond to the hidden premise: in some subcultures, including some subcultures in the US, financial gain is considered to be a bad thing. My understanding is that this train of thought is an extension of the premise that gain in general is considered to be a bad thing. I reject both premises. Rational self-interest is a healthy basis for the ethics that underlie a healthy life, whether the value being attained is financial or otherwise. But, there’s more: the set of notions by which self-interest is considered to be evil, and by which self-sacrifice is considered to be good, is irrational and destructive. The lack of logic is apparent when analyzing these notions in their own right, but to keep things from being too abstract, let’s look further: an especially vocal and fundamental proponent of self-sacrifice, Karl Marx, summed up its practical implementation as “from each according to his ability, to each according to his need.” The results were the Soviet Union, North Korea, etc. These countries are the result of the implementation of self-sacrifice. I have a problem with the idea as well as the practical results. One of the many reasons why I love the US so much is that it’s fundamentally a country based on the premise that it’s proper for a person to pursue his own happiness, and to paraphrase P.J. O’ Rourke, the government gets to keep the peace and otherwise butt out.

    To bring the issue full circle to the premise of the question: I co-founded Precision Quality DNA to make lots and lots of money, paid by a vast amount of delighted consenting adults who get far more value than they pay for the services that my company provides. However, for PQDNA to be able to earn this value, it would be helpful if the FDA didn’t declare these transactions to be illegal. Declaring my business activity as illegal would certainly affect my company’s profitability and (no surprise) that’s a large part of why I’m motivated to oppose the FDA’s proposed regulation of this field of endeavor. Motivation aside: the key point is that this type of business activity shouldn’t be declared illegal, or to put it positively: declaring it to be illegal is a bad idea: morally wrong, practically destructive, based on bad principles of government, based on flawed reasoning, etc.

  • The other point is that FDA is also in this for their own personal interest. When is the last time FDA made a budget proposal that did not include a massive raise for itself, to take on new “responsibilities” that it just invented? To save you some googling the answer is “never”.

    They even have a variety of astroturf groups including the “Alliance for a Stronger FDA” whose fulltime job is to to raise money for FDA, and “alumni” groups like the FDAAA who are part of the public/private treadmill.

    Thing is, if a company fails, it gets less money. But when the FDA fails (spinach? heparin? etcetera.), it always gets more money, because it’s a government monopoly and there isn’t any alternative.

    We have dozens of schools that certify medical doctors, but only one agency that certifies medical devices. Time to change that and push for a decentralized certification and regulation system.

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