- On May 11, direct-to-consumer genetic testing company Pathway Genomics announced that it would be partnering with drugstore chain Walgreens to offer its genetic testing kits on the shelves of Walgreens' 7,500 stores.
- The same day, the director of the FDA's Office of In Vitro Diagnostic Device Evaluation and Safety, Alberto Gutierrez, was quoted as follows in the Washington Post:
"We think this would be an illegally marketed device if they proceed [...] They are making medical claims. We don't know whether the test works and whether patients are taking actions that could put them in jeopardy based on the test."
- Two days after the Pathway announcement, and following a letter from the FDA to Pathway, both Walgreens and rival CVS Caremark, who had also apparently been planning to stock the kits, decided to drop the idea of offering Pathway's product in their stores.
- Yesterday Dan Vorhaus broke the news of a newly-launched Congress investigation into direct-to-consumer genetic testing sparked off by the Pathway controversy (the announcement cites "recent reports that at least one of the companies is seeking to sell personal genetic testing kits in retail locations, despite concern from the scientific community regarding the accuracy of test results").
As always, the best place to go for detailed legal analysis of this ongoing furore is the Genomics Law Report, and in particular Dan's lengthy and incisive first response to Pathway's announcement, and his subsequent analysis of the FDA crackdown.
Thanks for the post. I'd also add that it's not merely an opinion that DTC genetic tests are not likely to cause serious harm to consumers.
In fact, two oft-cited peer-reviewed studies come to mind. One, published in the New England Journal of Medicine last year, had to do with the ApoE gene, which increases one's risk for developing Alzheimer's disease. The study showed that disclosing results of an ApoE genotyping test to adult children of patients with Alzheimer's "did not result in significant short-term psychological risks."
The other study, which was led by the National Human Genome Institute, showed that patients who use DTC genetic tests âmay be among the most motivated to take steps toward healthier lifestyles." This paper was published in 2008 in Genetics in Medicine, the journal of the American College of Medical Genetics.
But somehow I doubt that even these peer-reviewed points will sway the FDA or Henry Waxman.
All this pity part crap is for the birds.
Personalized Medicine is Medicine Daniel. When you have companies restricting Terms of Service to Not be used for Medicine (in order to avoid responsibility and regulations), how can they be a part of Personalized Medicine?
1. A test for BRCA mutations is medicine, no matter what any terms of service say.
2. Playing medicine without a license is illegal, playing diagnostic lab and selling your wares without CLIA approval is stupid, Which is why Pathway started with CLIA and 23andME and Navigenics ran out to get it PDQ.
3. This is a case of too deep into medicine without any clue how to do medicine.
I had said this for the last 3 years now. Personal Genomics will continue to exist, just not in the fashion which free wheeling sans regulation spit partiers wish to have it.
Is that a bad thing? Is it so bad to say "Slow Down, let's look at what we are doing? Is it the best way to proceed?"
I don't think so. My ex partner and I went down this logic exercise in 2005 and came up with one conclusion
Physicians who know what they are doing NEED to be involved to pick up the pieces and help people understand.
Does a research PhD geneticist need help from a physician? Well, I think the Quake paper indicates, yes a clinician would have helped. At least to get the right studies to evaluate risk.....Not just analyze a genome.
Awesome post, Daniel!
Unfortunately, Steve must have missed your point about "the near-complete ignorance of the vast majority of doctors about genetic information"; this is a big bottleneck to the path he is suggesting. In 2010, most American doctors don't even speak about genetics, let alone understand what a DTC genetic test is for or how the results might be interpreted. For that, we'll have to wait for the next generation of trained physicians, starting with the Path residents at Beth Israel Deaconess. Figure a decade before that trickles down to doctors setting up shop in Syracuse, NY. Who wants to wait that long to get their personal genome report?
It is my genetic information it should be available to me without interference from the government or anyone else.
If I want I will consult a physician or other expert for help in interpreting and understanding but I should not in any event be denied access to information that is my very essence. To do so is dictatorial.
I have tested with 23andme and I have asked both my primary care physician and three specialists that I see to review my results with me and they have no interest in doing so. So much for professional help in interpreting my data.
Given the bureaucracy of the insurance companies and the reluctance of any physician to release any type of raw data to a patient if these test become medical procedures you will never see you raw data. Modern physicians guard this sort of information â raw data - as jealously as the Catholic church guarded theological matters pre-reformation and for the same reasons â control, period.
I find the increasing amount of control over what I think and do and what information I have access to by the government and professional groups to be alarming.
I think that the reports of the death of DTC genetic testing industry are greatly exaggerated. The highest regulatory burden the FDA could possibly impose on DTC genetic test kits is to make them Class II medical devices. This would place them in the same category as pregnancy test kits, and such kits are obviously attainable from the local drugstore. Sure, the DTC genetic testing industry might be better off under the current Laboratory-Developed Test (LDT) regulatory regime; however, a Class II designation will hardly decimate the industry.
@Matthew Markus: While I agree that DTC tests would be unlikely to be considered Class III devices, the "highest regulatory burden the FDA could possibly impose" would be to not approve the tests at all, at least in their current form.
Requiring these products to receive FDA approval (Class I or Class III), but to lose the DTC in order to receive that approval, would do considerable harm to the industry. I'm not sure it would decimate DTC genetic testing under the colloquial meaning of that word, but it would certainly do so under the technical meaning. I think that's one of the many points that Daniel makes above.
I agree, however, that developments to date do not necessarily herald the death of DTC. The reality is that we do not yet know what regulatory action the FDA (or Congress) will take, if any. Remember, DTC went through a round of warning letters and fear of over-regulation once before, and removed relatively unscathed.
@Dan Vorhaus: Thank-you for providing a true worst-case scenario. Perhaps I was too bold in my previous statements. My confidence, though, stems from the availability of kits like this:
I cannot see the FDA getting into the business of judging what information is too frightening or important for a person to know. I firmly believe that the agency is only interested in making sure that DTC genetic test kits face the same scrutiny as other publicly available test kits. Thus, I would be shocked if the FDA acted in a manner that installed physicians as gatekeepers to genetic information.
"This outcome would be an absolute tragedy for those of us interested in thoroughly exploring our own genomes. Anyone who has ever tried to get the raw data from their own medical tests from doctors will know how ludicrously difficult this is..."
About 15 years ago in London I went to my GP. Reception hands me my medical notes on the way to the waiting room. This was a departure, normally medical notes were given straight to the doctor. So I took the opportunity to sneak a look my records, reception sees me, tells me off saying I'm not allowed to look at them...that was the extent of NHS paternalism which should be gone forever.
I hope that the FDA have a well thought out plan for what they are doing and that it's not the case that they were just bounced into an unplanned action by media pressure. They have had long enough. I hope that they will review any evidence of benefits vs. evidence of harm that has occurred over the last few years. Will they listen to customers as well as academics, medics and self-styled authorities on "consumer protection"? It would be great to have personalised medicine for all through medics - if only there were anywhere near enough of them able and willing to provide it.
I hope that they will also look at the consequences of strict control on health information via DTC companies. If it is prohibited (as in Germany) DTC will probably not go away. I don't suppose they will prohibit the non-health related services, I will still be able to get my gene-scan. This could lead to a new generation of "bottom feeders" providing completely unregulated online health interpretation services delivered via servers from any convenient country in the world. DeCode did this for 23andme customers for free, obviously DeCode are not bottom feeders - the point is that it is relatively easy and inexpensive to set up the service, what is difficult and costly is providing a serious service.
At least with the current situation we have a few high profile companies that are under massive scrutiny, keeping them honest and on there toes. None of them are offering magic weight loss or IQ predictions. If a consumer wants to get some relatively bland gene related medical information he/she knows who to go to.
Maybe the current system of "regulation" that has evolved is not too far from the optimum, maybe it just needs a bit of tweaking.
Not all regulation is misregulation. While I agree it would be a shame if heavy-handed interference from the FDA (or Congress) ended the availability of DTC genetic testing, it doesn't seem like that verdict has been written yet. I would think it would be a net win if some sensible regulation on the industry were established so that (a) reasonable providers could cite their bona fides and (b) dodgier companies could be flushed out.
I fully agree with the point that medical professionals are abjectly unprepared to help patients make sense of these data, but that's a whole different problem...
I love how people who are not physicians and some who are not even research geneticists are here to pronounce how horribly not ready physicians are for handling genetic data. While I as a physician who teaches genetics to Yale residents knows that they aren't ready for the intricacies of some things, they know more about genetics than the average Joe who would buy a test at Walgreens or on Amazon.
That is the silliest argument I have heard. What makes Comp Sci 403 know more biology than a physician? It doesn't. What makes anyone at all know more biology, other than PhD level geneticists? Answer most people don't.
Is a bottleneck that destructive a thing right now? No, the money has already been invested in these companies, they won't fold, they will just find another way to sell tests. My guess is a non-medical and a medical version.....Or just straight sequence with no medical interpretation.
Why would you super smart people need that interpretation anyways?
You don't have to be a clinician to know how woefully under-prepared the medical establishment is for genetic information. All you have to do is take your 23andMe or Counsyl profile to your doctor and see how they respond. The vast majority of doctors have no understanding of - and worse, no interest in - genetics.
Let me ask you a question outright: let's say I did get my genome sequenced tomorrow, and had it sitting right there on a portable hard drive. Who would give me the best explanation of its medical relevance: my GP, or 23andMe?
* A 510k app requirement would destroy the industry as currently constituted because it cannot meet the diagnostic standard for GWAS associations. The FDA is a (much) higher bar than Nature or even NEJM.
* It is important to realize the gravity of this situation. A cavity check on DTC genetics companies in public view is not going to be pretty. It will spread to reduce public confidence in ALL genetics. Ultimately this will drive things overseas. Obama on genetics = Bush on
* ASHG is foolishly on the warpath about ancestry too, so I wouldn't count on that as a bolthole.
DTC cos need to use some of those millions and political connections to get this thing halted right away. If they don't fight back with clever political protests they are toast. Get 1000 people to protest in front of Waxman's office snuffing out candles titled "genetic privacy" and "American innovation". Go for the theater and hit back hard. If you admit to wrongdoing it's over, at that point the vultures descend.
This is all happening by the way because of 23's layoffs. Really dumb move. When they were the strong horse they were untouchable. As their aura evaporated they went from invention of the year to an f'ing congressional investigation in 18 months. Sergey needs to brush Anne aside and take the wheel again if there is to be a chance of survival.
1. "It doesn't take a clinician to know...."
Have you presented your data to your GP? I review these tests all the time. I also teach other doctors how to.
2. "The vast majority of doctors have no understanding of - and worse, no interest in - genetics."
Daniel, should they have an interest? Having an interests assumes there is something important there. In some instances they are absolutely correct in having NO interest in that Genome Scan.
3. " Who would give me the best explanation of its medical relevance: my GP, or 23andMe?"
Well, according to 23andMe's Terms of Service YOU CANNOT DRAW ANY Medical relevance from their "educational" test
I hope you see what I am getting at here. DTCG is at fault for not treating these tests as medically important in the first place. Are they medicine or not?
If they are not, then why should a doctor care about them?
If they are, then let's remedy this gap of knowledge. Rather than get all pissed, go out and try to teach some physician friends about this. Go lecture at your medical schools rather than sit in the medical school lab.
Just stop with this incessant "it's not fair, Genomic Freedom for all" crap!
Make a good argument as to why this shouldn't be regulated. I have yet to hear one.
Candles on Waxman's lawn is a show, just like SoHo was a show, just like zeppelin's are a show. The administration and the government sees this sort of thing as a sign that you are hiding something. Just go up to the Hill, state your case and let the chips fall where they may. Anything else looks like PR and political hype. Something which people can now see through.
This is not the end of DTCG, it is merely the beginning of a different type of DTCG, that's all.
If it's medicine, say so.
If it is not, say so.
Wow, some exciting posts. Not sure another opinion is needed here, but Dan, I have to agree with Steven. Yes, the FDA is a bunch of bone heads. Be that as it may, DTC is a failure because the product is frivolous. 23nme has the right approach--"genomics can be fun," because that's all it is at this point, a curiosity. If you think current analysis of a genome yields medically relevant information then you have been drinking too much Kool-Aid. Interesting information, yes. Medically actionable, no.
Just finishing re-certifying in Hematology, where our knowledge of genetics, in my humble opinion, is light years ahead of other fields. For example with germline risk of blood clots--we know so damn much about the genes and the biology, much better knowledge base than ALL other diseases...and yet the bottom line is that genetic testing in the absence of other medical risk factors is a waste of time. The studies just don't support doing it in healthy people.
Look, free advice!
Step One: find some actionable knowledge in the genome (not there yet!).
Step Two: "market" tests to MDs. BTW, investors, is there ANY medical diagnostic that makes money? Hm.
Step Three: consider going back to DTC.
Prediction: we will know when we are ready to move from Step One to Step Two when an MD gets sued by a patient with a bad outcome that may have been averted by having a genomic test. If genomic tests are so great, why hasn't that happened yet?
Thanks great points. I really truly agree. However, the likelihood of a lawsuit coming is probably from 2C19 and pharmacogenomics. I think that it will not be malpractice pre se, but may actually be a philosophy of law called Loss of Chance. By not ordering 2c19, in your case 2D6, did that patient with Recurrence/MI get robbed of a chance for a better outcome because you did not order that test.
This is a new philosophy, now upheld in 3 states
That lawsuit is coming, just wait.
How exactly are these tests medicinal? They seem to involve no medical practice whatsoever. They do not provide medical care of any kind and they do not in any way manipulate the human body - for better or worse.
Are they not several elaborate statistical analyses broken down into probabilities? It is hardly different from a professional software analyst examining some code and informing another where the potential weaknesses are and what problems are more likely to develop.
The GTC companies should split their operations into 2 - simply providing consumers with raw data from their genome and selling them a software/statistical analysis of such. How that could be construed as medicinal, I'm not certain. The government-knows-bests will have to inform me how the FDA will provide any betterment as they nose themselves into this new arena.
@ Steve Murphy
Regarding your comment "I love how people who are not physicians and some who are not even research geneticists are here to pronounce how horribly not ready physicians are for handling genetic data." ...... I take a lot of offense to this. It isn't just the terrible "PhD geneticists" that you seem to pounce on, but an entire conglomerate of researchers; epidemiologists, statisticians, bioinformaticians, and yes, even clinicians have been involved in a lot of this genome research. It isn't as black and white as saying geneticists vs. clinicians. I believe it truly takes a multi-disciplinary team to understand what all this research means, how it applies to individuals and populations. AND, there has been vast amounts of research done showing that physicians aren't ready for this. Do they know more than the "average joe"? Sure. But does that amount to anything meaningful they can communicate to their patients? Right now, not necessarily. Good for you for getting involved in solving this problem (seriously, I think more needs to be done in this arena), I don't think Daniel MacArthur or anyone else would argue against this (sorry to be speaking for others). But the truth is right now, that 23 and Me could do a better job of interpreting the results!
Regarding whether it should be regulated? Loaded question, but I'll simply answer "Probably, on some level" ... if for no other reason than to get everyone to stop, think about what the test means, realize the meaning of the tests will evolve, and introduce the broader public to this discussion of what needs to be done to prepare for a (potential) era of genomic medicine and personalized medicine.
When the statistical analysis and probability estimate is about whether you will vote republican or not it IS statistics. When it is about whether you will develop debilitating disease, that's called medicine. Pretty simple.
How does that statistical analysis cross the line into medicinal practice? I don't see how that is so simple at all.
It provides no diagnosis or treatment. It's a risk factor, no different than generating a statistical analysis to determine how much more likely you are to die before 50 if you ride a motorcycle sans a helmet. An observation, analysis of data, then turned into a probability regarding your future life. Or is that medicine too?
To re-iterate what others have said in this invigorating post, I cannot see how you do not define DTC genomics as medicine. Let me back up a bit, if you submitted your DNA to a DTC company and then received ONLY your SNP list, solely a list of which polymorphisms you have compared to the reference genome, then I am OK with that. However, the second you turn around and begin to interpret these results and tell people what they are predisposed to or even worse which mutations and subsequent diseases they have, you are practicing medicine.
There is no doubt in my mind (and there shouldn't be any in yours) that some sort of oversight needs to happen in this case. You wouldn't let me running about town with a scalpel cutting people open and you certainly shouldn't be giving people medical information without the proper training or oversight. This usually comes in the form of the FDA or some alternative regulatory body. There is a simple way to avoid all of this nonsense and this is to follow my previous advice, test consumer's DNA and provide a SNP list only. Leave it to them to take this information to a doctor/qualified professional or look it up in dbSNP and see what they find. This is your right as a person and you are assuming all risks upon yourself. Alternatively, if you go to some form of licensed professional you can be sure that you are protected as a consumer and as a PATIENT.
Everyone is entitled to know the secrets of their own genome. It is part of what makes you fundamentally you and most people with any curiosity at all would likely want to see what they're made of. I know I would. Fortunately for me, my life's work is in science and genomics so I understand the benefits and more importantly the limitations of my genomic composition. 99% of the world does not. Let's concentrate on the education and interpretation of large-scale associative SNP analysis before we go ahead and throw the populous in the deep-end. We just took off our floaties after all.
If you are told that you have a mutation in, lets say for example the GAA gene, and your mutation was one known to be the cause of adult-onset Pompe's disease; how have you not just been diagnosed? You've felt fine your whole life but now you've been told that you will have a debilitating disease as you age which will severely limit your functions, perhaps even leading to death.
Please explain to me how this is not medicine and how this does not beg for some sort of oversight over the agent administering this test? Even if just to the point of ensuring that all individuals handling your samples have been properly trained and documented as such. I am well aware of the ridiculousness of FDA regulations and I abhor all of the paperwork and endless documentation, but it all does really serve a purpose.
I want these tests to be readily available to all so that we can truly usher in the age of personalized medicine. That being said, what is so wrong with ensuring that we do it right? I'm a free market kind of guy, but I do not have 100% trust in the self-regulation of that free market. Do you?
I don't see how the presentation of that data (gene mutation) is anywhere equal to medical practice. How is it any different that providing the raw data and letting someone look it up on a 23andme.com database? It's just data. I trust the market to handle this one, that's for sure. These companies jumping through hoops will only drive up the costs for consumers and have a prohibitive effect on innovation in the industry.
Let's try a real example. 23andSerge says "You have a founder mutation in BRCA1"
That is a medical diagnosis. You have just been diagnosed with a disease.
When they give you the full sequence data of the entire genome, that is not a diagnosis. When you compare it to a database and YOU find out that you have this mutation, you just diagnosed yourself.
A diagnosis of BRCA1 carrier without proper counseling and guidance is medical malpractice. You could sue a doctor for just giving you the information without guidance. Why in the hell would you expect any less from the DTCG company.
Which is "why" companies like Navigenics AND Pathway have physician and genetic counselors.
How can you not understand that the specific gene sequence is a medical diagnosis? I understand, if you look at DNA like computer code and say, "it is just code"
Well, when you say this code is for a disease it is no longer just a code.
BRCA1 mutation IS a disease. That is a diagnosis of a disease. Diagnosing disease is medicine.
It just so happens that the gold standard for BRCA carrier diagnosis IS the genetic sequence.
Vitamins don't diagnose disease, 23andMe does diagnose disease. That is the difference here.
For those who don't know. BRCA mutations confers a risk of lifetime breast cancer of 85% and Ovarian Cancer up to 40% The treatment for this disease state is removal of ovaries by age 40, Medication and removal of breasts or increased Mammography and MRI.
So, I ask. How in the ever living bejesus is that not a disease and how is telling you that you have this mutation NOT medicine?
So if I get my own genome sequenced, hop online, and see what risk factors I have via a free database, that's cool. But if someone else looks at that same public information for me, that's a diagnosis?
It isn't diagnosing a disease because it is giving you a probability of developing a disease in the future. Telling a woman she has the BRCA1 mutation doesn't tell her that she does or does not currently have any disease. If it did, it would be a diagnosis. It doesn't - it's an enhanced probability of development.
PS: Your 2nd post on the issue did a wonderful job to disprove your own point as you highlighted the fact that it was enhanced risk rather than an actual diagnosis if disease. You could have picked a much better example, but I'm in no position to form your arguments for you.
"Telling a woman she has the BRCA1 mutation doesn't tell her that she does or does not currently have any disease."
You have done it, I have now officially lost my cool.
People with mutations in BRCA1 have a GENETIC DEFECT in DNA repair that in and of itself is a disease.
Which also predisposes to other disease, namely cancers. Just like diabetes predisposes to heart attack.
It is obvious you do not understand human pathophysiology, thus your commentary is disqualified from any further debate on this topic as you clearly do not know what a disease is or is not.
Next time, look things up before you pop off saying what is and what is not a disease.
Just look up the ICD9 code for genetic predisposition to cancer. It is a disease code! DNA repair defect will be a code in ICD10.
Thus, I will not debate someone about the legalities of someone diagnosing another person with a disease as opposed to discovering your own disease status ON YOUR OWN!
I will not play stupid semantic games with someone who has no clue about medicine, genetic disease or mutations. Your lack of knowledge in this space is precisely why the FDA is investigating these companies.
Sorry to be so harsh, but this is the same CompSci 403 argument I hear all the time from people who have no biology or health literacy.
They don't get it, and that's why they can't understand why the FDA and Congress are investigating DTCG.
My example of a GAA (acid maltase) mutation at a specific locus is the diagnosis of the disease. You do not produce a functional enzyme and in this specific example (adult-onset Pompe's disease) you may feel fine now but you have just been diagnosed with a disease. You will certainly show symptoms of the disease later (if not already).
Some SNPs are associated with a risk for a certain ailment. You may get sick, you may not. Some SNPs cause a disease 100% of the time. No associations or probabilities. You got the SNP, you got a problem.
Therefore, with all due respect, please again explain how the discovery of a known mutation which shows 100% penetrance of a disease is not a diagnosis?
Jason, your example was a much more fitting of a diagnosis than Steven's, which is what I wished to point out. A risk factor for cancer is not the same as "you will develop this later in life, guaranteed." This is why his example was flawed compared to yours, despite what he may wish to call a "semantic game".
Steven, what is a disease symptom of the BRCA1 gene? Is there always one? Is it then a diagnosis or a probability? Do all of us not share SNP variation that may or may not manifest itself as a diseased state later in life?
Cases of 100% penetrance are the only logical (in my view) way to argue for a disease diagnosis based on genetic data. Would providing people with the raw data and letting them do it themselves, or with the help of additional software to comb freely available databases, free us from the necessity of FDA involvement? Because basically the argument there is that if someone else looks at the data and comes to a "diagnosis" (which is rather certain, as long as the sequencing is correct), the FDA need be involved. BUT, if I take the data they provide and combs the databases and do a "self-diagnosis", the FDA need not be involved? Seems like an odd, illogical conclusion.
In any respect, I thank those that take the time to discuss this in a civil manner without attempting to demean me. Even you, Steven Murphy, MD.
Using some of the arguments made here against DTC genomics
"A diagnosis of BRCA1 carrier without proper counseling and guidance is medical malpractice. You could sue a doctor for just giving you the information without guidance. Why in the hell would you expect any less from the DTCG company."
Sounds like I should sue my prospective life insurance company for giving me a surprise diagnosis of HepC, with the only counseling and guidance being "we've decided not to accept your application for life insurance". I would image there are other examples of exceptions to your argument. At least Pathway and 23andMe customers know what they may find out, and have made their own choice to find this out about themselves.
Will, I agree, personal choice and the seeking out of such data is important here - nobody is forcing this upon anyone - and Steven also states "Which is "why" companies like Navigenics AND Pathway have physician and genetic counselors" - looks to me like common sense, market forces, whatever you would like to call it, has taken care of this issue (to an extent) already. They certainly do a better job than the insurance company in your example.
Only 100% penetrance is a disease? Seriously?
Glad you aren't my doctor or Genome provider.
Murphy, you shouldn't be so enthusiastic about getting the government involved and putting a microscope on things. Would your resume and practice survive a Congressional Hearing? (Rhetorical) Do you think this is good for Genetics, capital G? (Again, rhetorical)
Also, look, there are lots of things we do that are medically relevant measurements that are not medicine.
1) Getting on a scale at the gym. Your weight is relevant to medicine. But you don't need a doctor to weigh yourself.
2) Looking in the mirror. Your appearance is relevant to a whole host of medical diagnoses (e.g. yellowish cast for jaundice, or localized rash, etc.). But a doctor need not authorize you to look in the mirror.
3) Taking various nutrients and supplements to avoid a cold. Your diet is relevant to medicine. But a doctor need not authorize you to take some anti-cold medicine.
4) I don't need a doctor to look at WebMD or get on Pubmed if I have some bizarre condition. I care a hell of a lot more about my health than any MD will, if only because they have 1000 patients and I only have 1.
The solution to improved health is to decentralize and teach people more about taking care of themselves. The fact that GWAS associations have sucky signal strength is not a good reason for banning that movement.
I thank Allah that I work in the completely deregulated computer industry.
What if people stopped us from getting personal computers in the 1970s, assuring us that only experts in numerical analysis could do anything with it, and if we tried to design something on our own we might end up hurting someone since we weren't experts.
What if War Games in the 80s led to people banning individual access to computers on the network because of "hackers" and "national security".
What if the existence of buggy and crashy software meant that all software by everyone had to have premarket approval and go through ISO certification bullshit.
Imagine how much would be lost.
That is what is going to be lost.
Steven - Thanks for answering my questions.
I don't mean to demean you. It is just a lot tougher to communicate concepts to someone who doesn't have the same training. Imagine a computer engineer trying to teach me intricacies of COBOL, etc over a few lines of blog comments. I just doesn't work.
I do wish you the best
If my 6 year old cousin was to get her genome sequenced and she had a mutation that could lead to cancer later in life, does she currently have a disease? First, nothing is wrong with her now, she has no symptoms of a diseased state. Secondly, it is not guaranteed she will ever develop the diseased state. I don't believe that's a semantic argument.
It is Semantic Zack
1. You state predisposition to a disease is not a disease state, when the biological defect to predispose is in fact a not normal physiologic (disease) state
2. It is a hypothetical and not true scenario
3. BRCA mutation state is defined as a Disease already
they were caught playing medicine. What about PGx testing Zack? Is that not medicine either?
Isn't PGx testing done in combination with prescribing medication? Of course that's medicine. The entire purpose of the testing is medical.
I really still don't understand this medicine vs. not medicine stuff. Steve seems to be saying that if it's defined as medicine then a medical doctor needs to be involved. But medical advice is given all the time by non-medics (from nurses to pharmacists). With DTC it's not "is it medicine?" but "is it a medical service of such a nature that it needs some regulating?". Probably yes, we do need some sort of regulation. The other question is "is there any level of advice that should be delivered only via a medical professional"? I can't see any use in taking extreme positions and remaining poles apart.
As Daniel says the FDA have had years to be working on this...I hope they have (been working) but unfortunately I bet they havn't, it's not the first time that they have been bounced into doing something about DTC, and I suppose they will fail again)
Would I need a doctor to discuss my family's medical history with my own family? Would that be considered medicine? The actionable information I may receive from a review of my own family's medical history would likely be more informative than a list of my own genetic variants (assuming we're not talking about known disease causing mutations), even if that list came with risk statistics.
Day trip to Tijuana, Piedras Negras, Vancoo, Niagara Falls or Nassau. Get it done there for 200 bucks.
Nice try, AMA. No banana.
"Make a good argument as to why this shouldn't be regulated."
Isn't this completely backwards? The burden of proof should be on the proponents of regulation to prove why the regulation is required. Given that no one is forcing genetic tests on anyone that doesn't want them, and that the companies involved provide appropriate disclaimers on the limits of their tests, this is one more of the many things that the government should just keep its nose out of. An individual's genetic data does not belong to the government, nor does anyone acquire a proprietary interest in it by virtue of an "MD" at the end of his or her name.
Isn't this completely backwards?
Why yes, yes it is.
And given the complete absence of evidence that receiving genetic risk predictions actually causes harm, the onus is very firmly on the regulation proponents to justify their point of view.
I think regulation is OK - it's the extent of regulation that could be the problem and the wisdom of any regulations that will be applied under the current conditions (controversy, knee-jerk, pressure from ignorants above, and a very fast moving field). Any restrictive control should, as said here, require strong justification with clear evidence of actual or potential harm and also be equally clear that shutting down DTC (if that were to happen) would not actually be harmful itself. I'm certain though that it would be harmful, for many reasons, most are in Daniel's post.
I agree that this can be qualified as practicing medicine.
Why are MD's the gatekeepers of my personal biological information. They are the only one's allowed to give me information about my body?
I do not have an MD, but this is my body. I should have the right to ask and pay for any darn test I want on my own body without my MD's permission. If I want to know my D3 levels, why should I not be able to get that info without the consent of my MD? It is so frustrating.
Interpretation of the results is a different matter entirely. But simply getting the testing should be a free individual choice not restricted by government or MD's. It is none of your's or the government's business if I want to get my own genetic test. I don't need you to protect me from myself.
I don't need you to protect me from myself.
Ahh, but apparently you do as the consumption of illegal drugs or of alcohol under the age of 21 are forbidden. Big Brother will send you to jail if you do not do what is good for you. Let's face facts here, the government of the U.S has taken an active interest in determining what is good for you and what isn't. This is the way it has been and is the way it will be. Regardless of how you feel about it this is an undeniable truth.
And given the complete absence of evidence that receiving genetic risk predictions actually causes harm...
As I am sure you are aware, genetic testing is not just the determination of genetic risks that can be cured with the panacea of a disclaimer. Some of the information that you will receive has the potential to be more than just the predisposition to disease or reaction to a pharmaceutical. You may actually be diagnosed with a disease if you so happen to find a particularly nasty SNP in your genome. This has enormous consequences to those who may be doing a genetic test for fun but then find out some truly sobering news. This is not to say that a doctor has to administer and explain the results of your-favorite DTC test but there certainly needs to be some form of oversight beyond submitting information to a website. These companies (or any other) need to have some form of accountability for what amounts to potentially delivering a clinical diagnosis.
I don't believe getting information about your body is illegal - and the act of testing poses no risk.
To extend the point, I could really care less about current state of politics and invasion of government. It ebbs and flows. I am pretty sure our constitution stands, and article I section VIII providing limits on functions of government has not yet been repealed. So until then, you and the government can leave me alone to buy whatever the heck test I care to buy that is available to me. Why do you or the government care? Why should it be any of your business?
Also, god-forbid someone gets diagnosed with a disease by someone other than their doctor! The whole world is going to go down the toilet!!! Thank goodness a test like this is available, and thank goodness people can get a diagnosis early that hadn't otherwise been caught by their too-busy to take the time to actually run some diagnostics doctors.
I am only 31, but I like to know my baselines. I don't believe anything is wrong with me, but I love information. I want my D3 levels, I want my cholsterol, and i would love to have even more info but despite being a more-than-willing private pay client my doc isn't interested in ordering any of these labs. If I want to get any of this info, I have to go to the Cleveland Clinic Wellness Program and pay tens of thousands.
So shame on any of you doctors who think patients shouldn't have the right to get information about their body on their own. We are capable people, not ignorant morons who can't handle information about their own bodies. It is so insensitive and insulting the attitude MD's have towards us "patients" We are actual people with actual brains who can actually handle somethings without you giving us permission.
I want my D3 levels, I want my cholsterol, and i would love to have even more info
And wouldn't you want to be sure that the people who manufacture and distribute your test results are upheld to the highest quality standards and practices? Or do you also want to do your tests yourself in your garage.
Nobody here is arguing against these tests, certainly not me. This is about oversight, of which there is currently none very little. I am not a physician nor do I play one on TV, but your attitude towards your health is a little confusing. So you are upset that your doctor will not order needless tests for you to know your own "baseline". However, you are also upset that you can actually get these tests but they cost you a lot of money? Children want what they want when they want it.
If you truly desire to know any of your biological information which is not directly related to a health concern, then why are you upset that a doctor will not waste hospital/laboratory time on your curiosity? I would imagine that most laboratories are maxed-out dealing with patients who have genuine medical needs as opposed to your self-tinkering. If you want the tests then pay for them. Don't complain to me about the price of the tests, this is set by the market. If you want to have your genome sequenced, go right ahead and do it. But if you are going to try to extract medically-relevant information from your SNP list (which you most certainly are) then it needs to be regulated in some form. Just because the DTC-companies say it is not medical information does not make it so.
Here is a shiny red button. DO NOT PRESS THE RED BUTTON. You are entranced by the beautiful radiance and succulent aroma of the shiny red button. You are seduced by the subtle sophistication of the glowing omnipotence and benevolent charms of the red, candy-like button.... but for God's sake man, DO NOT PRESS THE RED BUTTON.
I am perfectly willing to pay for any and all tests, and my argument is that they should be more widely available - not more regulated and expensive. I support moderate regulation to a very limited extent. I am referring to a more general anger towards MD's and their authoritarian possessiveness of their power. It is bad enough I have to get an MD's permission to get my D3 tested.
I read things everyday, advice from Dr.'s like Dr. Oz, research studies, Dr. Roizen from the executive program in which I am involved, Sirius Doctor radio - they recommend you test for this, test for that, ask your doc about this, get your skin checked, etc.. When you actually follow through and do these things, doctors are annoyed that you are wasting their time unless you are suffering from some serious illness. That is not the way medicine should work. I am sick of having to go through an MD for every single little thing. There are such simple, harmless, basic things informed patients should have the right to do without bowing down to the almighty MD.
Because my doc doesn't have time, and is annoyed by any patient that isn't sick, and perhaps threatended by any patient who comes in with information, then I have had to join the executive health program. Very few people can afford this. So are you telling me that the average Joe shouldn't be bothering their docs with requests to keep up with preventative health and wellness? They don't deserve to know their levels here and there to make sure they are on top of things? It should only be for the elite? Regular MD's don't have the time and don't care? There is such a paradox between the public message to patients and the reality of what happens when you see your doc. I am sick of doctors thinking they are the only one's who know what is right for patients. We have the ability to research, understand, and think for ourselves. And if I see my doc for my physical and request a few tests, paying out of pocket, why the heck does it matter to her whether or not I get them even if she doesn't think I need them. Is the hospital trying to make money or not? I don't want to hear excuses about the lab being too busy with sick people that is offensive and ridiculous. I don't deserve preventative medicine? I am not sick enough? Unbelievable.
I do personal genomics in the East. We sell directly to the customers but we have MDs to interpret the results for them. So far no government agency is bothering us much yet.
I may be a bit biased. But I am with Ariel here. It is quite difficult to get docs to let us do tests on ourselves to satisfy our curiosity. I found quite many latent Celiac Disease patients (the double DQ2.5 carriers). And my work help them get diagnosed with CD and can take care of themselves better.
I agree that there should be regulations but they should only be limited to regulating genotyping/sequencing quality which is already covered by CLIA.
We all know 23andme et al are not doctors nor do they claim to be. If people do get BRCA positive result, I think they will then talk to real doctors for confirmation test and their professional advice.
I don't really understand why MDs here are against these tests, it seems to me they might bring more business to you.
Does anyone have evidence that risks of freedom in genetic testing outweigh the benefits?
Wow - I'm clearly late to this discussion but I'm going to jump in anyway. Starting from first principles: this is my DNA. A technology exists to help me read it, or at least part of it. Why do I suddenly need to recruit all the medical infrastructure to do this? I hope the medical professionals who want genetic testing kept under the "medicine" tent understand how appalling this argument is. It sounds like sacred knowledge being protected by an elite. Yes, yes, I know it's not that simple, but come on - you have to see the parallel.
Next step: My DTC provider dumps a list of SNPs, with no information or analysis. However, I go to snp-wiki and I find I have the minor allele for SNP rsX, which is 80% associated with dying horribly. Who, exactly, is practicing medicine? The DTC company? The database? Me?
Is it only medicine if there's an ICD code associated? Is it always medicine if there's an ICD code? Who decides what gets an ICD code - and more importantly, does this decision then render all related knowledge off-limits except with the advice and consent of a doctor?
Obviously the case is a strawman. A DTC company could not build a business around a raw data dump. But I can get my blood pressure and cholesterol levels checked with over-the-counter techniques. Does hypertension have an ICD code?
I totally agree with East that these labs should be regulated for quality, but it's my genome, they're my variants, and I've had them all my life. Why can't I read them?
I can understand why people not trained in medicine have a hard time understanding this.
Your blood pressure measurement IS NOT A DIAGNOSIS
Hypertension IS and can only be made after 3 BP measurements in the same setting.
Your ACGTs are not a diagnosis
BRCA1 Mutation carrier IS
No strawman, in fact a very important distinction in regulation AND liability. Which is precisely why we need to address it FIRST prior to applying regulatory frameworks.
Thanks for the response. I think I'm beginning to see the root of the problem. It appears that, in the medical world, "diagnosis" carries a much broader meaning than just the condition it describes. "I carry a BRCA1 mutation" means just that, to me, but whoever gives me that info carries a whole load of legal, ethical, and liability baggage.
There's also clearly a gray area between personal health information (e.g. measuring my own BP over time) and formal diagnosis (I have hypertension). I can, with reasonable probability, come to the same conclusion as my doctor regarding whether my blood pressure is in fact elevated. We can acquire the same information. But the formal diagnosis of hypertension, not to mention the formal course of action following it, opens up a whole different world of, as you say, regulation and liability. And, frankly, I can see why a physician would be displeased with even that level of self-diagnosis: Joe Public's false discovery rate must be overwhelming.
In the few cases where genetic tests can predict disease, however, that gray area becomes a very sharp line: I either have snp X or I don't. Provided, of course, the test is accurate - but I think we all agree on regulating that. But the point is that it doesn't matter whether the test is done in the controlled, repeatable environment of a doctor's office or whether I'm spitting in a tube at home. The result is going to be the same.
I just don't think restricting access to that information is a defensible position. In the long run, anyway. I'm obviously betraying my ivory-tower academic roots here.
Have I completely missed the point? Is the distinction I draw between information and diagnosis artificial?
I prefer to think whether my service can help people or not. If letting a person know about her BRCA status and it can prompt her to seek doctor's advice and save her life, I am all for it. I don't see any benefits for her by keeping her in the dark. A BRCA positive person without any family history as reference most likely won't take the BRCA test at any MDs' office. If my test can prompt her to do that, I think I do the right thing.
Absolutely brilliant! You've got it! If I give you the diagnosis of hypertension as your doctor, I am obliged to treat that disease and prevent progression as best as I can. If I don't I am liable.
If the DTC company tells you diagnosis, they aren't.
The same is true of genetic diagnoses.
@Geneticist from the East
I agree, but unregulated, how can I trust you are actually testing BRCA1???
For tests that have well known diagnostic potential, I don't mind being regulated as well.
I assume Myraid is also regulated in the same way, right?
Goodness. The personal genomics industry wants to be "self-regulated"? Well, every industry on earth would love to be self-regulated, I'm sure. Heck, the oil and banking industries used to complain about "excess regulation" all the time, and we can definitely see just how well-founded their concerns truly were NOW, can't we?
Let's keep it simple here. The raison d'etre of governmental agencies like the FDA and the FTC is to protect consumers. If you have personal genomics companies offering their customers health-related information that their customers can't independently evaluate(not everyone gets to spend a decade in college studying human bio, you know), it's important that these companies be regulated to ensure they aren't ripping their customers off. As a geneticist, you're able to assess the quality of the product 23andMe sells you. Not everyone else is. The regulatory bodies are there to establish standards to protect the public, and that's precisely what one would hope they will do.
And of course I don't think these tests should be available to consumers only via clinicians. But more regulation is necessary and long overdue.
Is it only medicine if there's an ICD code associated? Is it always medicine if there's an ICD code? Who decides what gets an ICD code - and more importantly, does this decision then render all related knowledge off-limits except with the advice and consent of a doctor?
I don't think 23andme claimed to test for the whole BRCA. So theirs is not a diagnosis. But you might think otherwise though.
"The raison d'etre of governmental agencies like the FDA and the FTC is to protect consumers"
No. The rationale is to (1) increase their budget and (2) avoid negative press, which are the only checks on their growth.
What incentive does the FDA have to "protect consumers"? If patients die because of lack of access to drugs, the FDA is currently not liable.
Work in the federal government and you will quickly realize that people are human and political there just as they are in business. The key difference is that businesses can go out of business if they don't serve their customers. The introduction of a regulator into a voluntary transaction between an individual and a business changes the dynamic. A regulator is your most important customer because they are the ones with a gun pointed at your head. If they don't like your product they will fine you, destroy your business, and throw you in jail.
This distorts every decision you make going forward. The regulator does not want new innovative stuff, they want stuff "according to spec". The regulator does not like it if you make a lot of money because profit itself makes them envious and suspicious -- they may not have your technical savvy or your gadgets, but they'll have your ass if they want it. They also now have something to trade: if they lay off your business, you give them a plush job as "director of regulatory affairs" the next year.
Thus it is regulators who corrupt business rather than vice versa. Take a third string PhD, give him a title, a govt job, and a gun -- and then empower him to fine and imprison all those innovative guys who surpassed him in college and grad school. "Those who can't do, regulate".
Nothing I say here should be surprising if you think of the police. Everyone knows about police brutality and the fact that police can and will ticket you if they feel like it or if they need to make quota. The FDA is exactly the same way; the main difference is that they treat entrepreneurs like criminals.
"But if you are going to try to extract medically-relevant information from your SNP list (which you most certainly are) then it needs to be regulated in some form."
My SNP list is mine. If I want to know it, and extract something from it, that is my business.
Why do I need permission from a group of people with a vested financial interest before I can do that?
Does the medical profession really think it has the right to control what I am permitted to know about myself?
In equity, it cannot insist that it must be involved in the process, and then insist that it has the right to control what I am told. If any other profession tried to do that, it would be roundly condemned, and quite rightly so.
In principle I agree with you completely, but we may be talking about different things. If I'm going to extract medically-relevant info from my SNP list, then I absolutely expect that SNP list to be accurate, and that warrants some level of regulation.
@Traver - Yes, I'm sorry. I understand your point, and have some sympathy with it.
But regulation is no panacea. It will not prevent errors. I figure it's up to me to guard myself against possible errors, and Dan has told us some ways we can do that.
What I absolutely do not want is a physician-mediated process. That's what I have now, and I don't want any more of it.
"What I absolutely do not want is a physician-mediated process. That's what I have now, and I don't want any more of it."
I agree, but I also don't want the forbiddance of a physician-mediated process, either.
I'm certainly glad I have used 23andMe to examine some part of my own genome. Of course, the information available (both that is sequenced and, mostly, what we can make sense of now) is only a tiny part of my genetic information but this information is mine. I was born with it and I feel I have a right to it. There's nothing really amazingly fabulous or awful in it, as it happens. It's inherently very interesting to me simply because it is mine. I have a bachelor's degree in biology and with 23andMe's help I think I do quite a good job of making sense of the information.