Genetic Future

Camilla Long’s appallingly bad op-ed piece about personal genomics in the Sunday Times is a true masterpiece of unsupported criticism, and an ode to willful ignorance.
I’d encourage readers to discover their own favourite errors and misconceptions (there are plenty to go around), but here are some of the more glaring flaws:

Direct-to-consumer genetic testing is not illegal in the UK.
Long claims:

Although most of these tests seem pretty harmless and are marketed as “educational” rather than “diagnostic”, in the UK such over-the-counter kits are outlawed.

She’s completely wrong. In fact there’s no law in the UK against DTC genetic testing, although it is illegal to test someone else’s DNA without their permission.
Why doesn’t someone writing an op-ed piece about personal genomics know this? 
Learning of your genetic risk is unlikely to be harmful
Long profoundly exaggerates the risks of learning of one’s own genetic disease risk:

Even if the tests were more accurate and reliable, what about the pieces to be picked up when the results come in? The cost to our collective mental health is incalculable.

Rubbish. There’s currently no evidence to support the notion that learning about genetic risks of future disease do any long-term harm to a person’s mental health, and growing evidence suggesting that such information does essentially zero long-term damage. For instance, the results of a recent study concluded that “[t]he disclosure of APOE genotyping results to adult children of patients with Alzheimer’s disease did not result in significant short-term psychological risks”.
Plenty more research needs to be done in this area, but the notion of “incalculable” damage to mental health resulting from test results is utterly absurd, and entirely unsupported by the existing literature.
Willful ignorance is not an argument
The last half of Long’s article is a paean to ignorance, peppered with disbelief that anyone might gain something from learning that they had increased disease risk:

And who — in their right mind — would want to know? I wouldn’t. I’m already aware I’m at risk; that’s enough. I certainly wouldn’t want to know for sure that I was doomed — weird, that — just as I wouldn’t want my children to worry about it, either.

[…]

Even learning small truths about your genetic code, such as where your ancestors come from, can be a weird experience… I had my maternal ancestry analysed (just for fun, honest)… I don’t know what I would do with more serious genetic information and I don’t know what other people would do with my genetic information, either.

Here’s a hint: just because Camilla Long can’t figure out what to do with information doesn’t mean other people can’t. There’s plenty of people out there – people, I suppose, without Long’s bizarrely fatalistic view of genetic information – for whom the knowledge of an increased genetic potential for heart disease could be enough to save their life.

There’s even value to uncovering risk for diseases that can’t be prevented: for instance, someone who knows they have an increased risk of Alzheimer’s can learn more about the illness, prepare their family for the future, and ensure they’ve set aside enough money to pay for long-term care. Or does Long honestly believe that the only possible response to such information is to “have more fun in the short term, to buy that speedboat or get wasted more often”?
Researchers have already isolated genes that indicate if a person disagrees with alcohol. What if you’ve got a gene for seriously agreeing with it?

Let’s think: what could you possibly do if you learnt that you were more susceptible than average to alcoholism? Can anyone think of any way in which that information might be useful to you? Well, Long clearly can’t.
Space tourism is not an insult
Long finishes with what she no doubt regards as a knockout blow:

This is not an argument against knowledge. This is an argument against an expensive, largely pointless service endorsed by a celebrity for misleading reasons: it’s the genetic equivalent of space tourism.

Firstly: actually, Long’s article is an argument against knowledge; it’s a clumsy, ill-informed dismissal of the notion that the information gained from genetic testing can have any benefits whatsoever to its recipients, laced with outlandish and unsupported claims of the dangers that testing can pose. It’s a disgrace of an article of which she should be profoundly ashamed.
Secondly: the metaphor between space tourism and personal genomics is a good one, but not for the reasons Long thinks. Just as space tourism will result in the money forked out by a few wealthy individuals being converted into expertise and technology that will ultimately benefit others, so too will these first genomes – celebrity or otherwise – help to pave the way for medically relevant genetic information for the rest of us.
For an eloquent counter-point to Long’s metaphor, see Jason Bobe’s short and excellent opinion piece in praise of genomic astronauts.
Ignorance should be a choice
If Long wishes to stay ignorant of her own genetic risks – just as she has managed to remain ignorant of the entire field of genetics, even while writing an op-ed piece about it – that should be her choice. But her criticism of others who choose to pursue a greater understanding of their own genetic risk is entirely, horrendously misplaced.

Comments

  1. #1 keith grimaldi
    March 14, 2010

    Very good. I wrote a comment on the Times site starting to list the errors (beginning with it NOT being illegal) – i got about 1/3rd of the way through and it was taking to long so i hit send, it hasn’t appeared yet though…

    Regarding any possible harm, DTC has been under viscious attack since at least 2002, starting in the UK, and the harm possibility was often put forward. Eight years later I am not aware of any harm being documented and I think if it had it would have been widely distributed by now. As you say, the work that has been published shows the opposite.

    She says (about schizophrenia) “the idea that there might be a genetics-based solution for the disease, especially at this stage of scientific research, is absurd”. She’s correct, but then I don’t know of any company that claims such a thing, so it’s a useless comment.

    And this “The impact on one’s life of that kind of Damoclean diagnosis is almost impossible to imagine.”

    Enough – it’s almost impossible to imagine what to say about that

  2. #2 Bruce Will
    March 14, 2010

    “I had my maternal ancestry analysed (just for fun, honest)”

    Just speculation but perhaps the lady was traumatized by finding out who her father was. :-)

  3. #3 Andrew Yates
    March 14, 2010

    “there’s no law in the UK against DTC genetic testing”

    Is there a law in the UK about providing medical advice without a medical license?

  4. #4 keith grimaldi
    March 14, 2010

    “Is there a law in the UK about providing medical advice without a medical license?”

    Don’t know but it’s free to all and available, DTC, through NHS Choices website

  5. #5 Andrew Yates
    March 14, 2010

    @keith grimaldi
    “Don’t know but it’s free to all and available, DTC, through NHS Choices website”

    Sure, and so is the US Code at http://www.gpoaccess.gov/uscode and the US Federal Register at http://www.gpoaccess.gov/cfr, but that doesn’t mean I can sell you legal advice. But by all means, read the law yourself and apply it for yourself however you like.

  6. #6 Ed Yong
    March 14, 2010

    Awesomely savage work, Dan. Just a small point – this was the Sunday Times not the Times. For non-UK readers, our Sunday papers might bear the same names as the weekday/Saturday versions, but they’re almost totally different entities with separate writing teams.

  7. #7 MolecularFossils
    March 14, 2010

    Great points! The profound ignorance of genetics exhibited by these anti-intellectual journalists never fails to astound me.

  8. #8 Geneticist from the East
    March 14, 2010

    Sorry to be off topic.

    I just noticed that decode raised the price of Complete Scan from $985 to $2,000. Anyone knows the scoop?

  9. #9 Daniel MacArthur
    March 15, 2010

    Thanks, Ed – an important clarification, given the Times’ typically excellent coverage of genetics. I’ve modified the post.

  10. #10 HC Howard
    March 15, 2010

    Above and beyond some of the mistakes in this article, I just don’t understand why people are so easily convinced of the benefits of DTC genetic testing? It looks a lot like the technological imperative. Genetics and genomics are beautiful and potentially helpful sciences but packaging them as commercial products and making the public believe that they are more useful then simply eating well, reducing stress and exercising is disconcerting. I don’t argue the value of genetic and genomic research nor their use for monogenic disorders and for some complex traits but it’s the profit-motivated blanket statement of “increased health for all” that is simply misleading.

  11. #11 keith grimaldi
    March 15, 2010

    @AndrewYates
    “Is there a law in the UK about providing medical advice without a medical license?”

    I don’t understand your (and Sherpas) issues with what is medicine and what is not. Is it actually against the law to give medical advice if you are not a medical doctor? Is it against the law to give it DTC widely and freely as many government sites do (NHS, CDC, NIH, etc)? What about the pharmacist who advises me on medicines? What about buying ranitidine DTC in the supermarket? Where does medicine begin and end? What are the terms that define what has to be limited to a medical doctor and transmitted by the doctor directly to the patient? It seems that a lot of what you and Steve talk about as “doing medicine” apply to a whole load of stuff that is routinely done by non-medics, with no particular problems.

    What makes 23andme with their (non-invasive) test “doing medicine” compared to say the NCI Breast Cancer Risk Assessment Tool? Especially as we are often reminded that classic risk assessments are more accurate than genetic tests. If that is the case then why is it not a problem that there are so many sites offering risk assessments with these more accurate algorithms, why are they OK DTC but genetic testing is not? What is the fundamental difference?

    As far as I can see none of the DTC companies are making diagnoses or actually advising treatment – that I would agree is generally the realm of the medical doctor, but not always, unless it’s against the law for my pharmacist to advise me to take a ‘flu medication).

    The lines are blurry and the regulation is poor but it’s not clear why DTC is being singled out for your collective attacks. You may not like the marketing methods (I would say that you certainly don’t), you might not think them useful as tests, on these I can understand your reasons. I don’t understand your reasons for thinking that it’s an illegal activity and that only medical doctors should be allowed to do it.

  12. #12 Andrew Yates
    March 15, 2010

    “Is it actually against the law to give medical advice if you are not a medical doctor?”

    Yes.

    “Is it against the law to give it DTC widely and freely as many government sites do (NHS, CDC, NIH, etc)?”

    1) Medical science itself is not medical advice. An analogy is that a law citation is not a court order.
    2) It’s not unlawful for an agency of law to publish medical science —even if edited for “layperson’s consumption.”
    3) Merely viewing a website does not constitute a patient relationship.

    “What about the pharmacist who advises me on medicines?”

    What a pharm tech can tell you over the counter is probably more aggressively regulated than anything in a medical office. That’s why they force you to sign so many ridiculous waivers.

    “What makes 23andme with their (non-invasive) test “doing medicine” compared to say the NCI Breast Cancer Risk Assessment Tool?”

    “Invasive” is a matter of relationship, not necessarily physical contact. “Information” itself cannot form a relationship with an individual to produce medical advice in the same way that the source code of software itself cannot to produce results.

    Also: It’s not unlawful for an agency of law to publish medical science —even if edited for “layperson’s consumption.”

    “why DTC is being singled out for your collective attacks”

    That would be the subject of an entire editorial. Brief: because genomics belongs as common medical practice, and the way to achieve that is to shed the parties and the groupies and get serious about how to actually apply this in _actual practice_ rather than in theory.

  13. #13 Andrew Yates
    March 15, 2010

    Clarification: by “invasive” I do not mean “surgery.”

    In practice, “non-invasive” actually means “less invasive” with the implication of “less invasive than traditional surgery.”

  14. #14 Steven Murphy MD
    March 15, 2010

    @keith grimaldi “The lines are blurry and the regulation is poor but it’s not clear why DTC is being singled out for your collective attacks.”

    Ya know how Obama and the rest of the world are anti-healthcare profiteering? They bash “doctors” for escalating costs. Well, sometimes we have to do tests because a patient demands it. Why? House M.D., E.R., Grey’s. WTF is hyping yet another unneeded scan on society? Go get an MRI/Plavix repsonder panel/BRCA test, it’s fun to see what your brain/Genes looks like. Maybe it will empower you to eat Horny Goat Weed?

    It is this blurring of bullcrap alchemy/charlatanism with serious medicine while portaraying it as not medical, but kinda sorta is.

    Keep the serious, serious. BRCA testing is freaking serious guys.

    In Anne and Linda’s lame ass attempt to skirt laws they took the field of personalized medicine and shot it straight in the foot. Like little kids playing with their daddy’s shotgun….Kabloowey!

    Navi tried really hard to be serious, by only having a 9 night open bar in SoHo. Guys, WTF? You defend this $h!t? They have confused the field delivering mixed messages.

    What should have been sold is “these genetic tests pinpoint with laser accuracy conditions and changes that will affect your health and medical care”

    That is personalized medicine. Not Oprah shows.

    So Keith, Does this clear up why we are trying to finish this off?
    -Steve

  15. #15 keith grimaldi
    March 16, 2010

    Not really clear, maybe even less so. Unfortunate because the issue here is not parties or blimps but is precisely clarity and regulation, which are needed. For reasons given elsewhere my colleagues and I are fully behind the Code of Practice initiative of the UK Human Genetics Commission.

    I’m not defending the companies here, they can do that themselves, I am defending my wish to be able to genotype my DNA without having to go through a medic. I am defending DTC genotyping coupled with responsible interpretation (and marketing) for everyone who wants it.

    I think you’re getting diverted by the 23andme bashing so let’s ignore them for now – it’s clear that you don’t like their marketing but that’s not my issue. What exactly do you want to “finish off”? Is it the product (DTC) or the way it is sold? I assume it’s the product and it would be good to read clear details of how you think it should be regulated. “Doing medicine” is not helpful enough without clear boundaries – decodeme gives me medical information based on my genotype, it doesn’t give me medical advice so according to Andrew Yates that’s OK. These tests are sold as risk assessments, there are many disease risk assessment calculators available which don’t involve genetics (and which maybe even more accurate at the moment) – should these only be administered by medics as well?

    Is the Counsyl DTC service OK? Serious diseases, certainly not ear wax, but it seems to have been well received in the press. Where does the medic need to be involved? I think most would agree that if a CF mutation is revealed then the sensible thing would be to involve medics in the subsequent steps, the preparation for the disease and the treatment.

    Andrew Yates says “…because genomics belongs as common medical practice…”. Belongs? So it should be owned by? Why and who says so? It is appropriate to use genomics in medical practice but why does it belong only there? I appreciate that he also says that he needs an “entire editorial” – I hope to be able to read it because to take ownership of genomics requires some powerful (and clear) arguments.

  16. #16 Steven Murphy MD
    March 16, 2010

    I think we have been crystal clear.

    1. The Argument Against Marketing DTC as “Fun”

    I think this warrants a blog post.

    Put in one line

    “If you are doing medicine say so”

    Ok 2 lines

    “Don’t piss on my leg and tell me it is raining”

    Got It?

    -Steve

  17. #17 Neil
    March 16, 2010

    The UK Human Genetics Commission’s “Common Framework of Principles for DTC genetic testing services” that Keith references was out for consultation last year. If you missed it – http://www.hgc.gov.uk/Client/document.asp?DocId=214&CAtegoryId=3

    The question that seems most relevant here was:

    2. Do you believe there are certain genetic tests that should not be offered direct-to-consumers? If so, which categories of tests?

    The Principles do not suggest that certain genetic tests should not be offered direct-to-consumers. However, they do state the appropriate levels of support that should accompany testing.

    The categories offered were:

    1. Diagnostic tests
    2. Pre-symptomatic tests
    3. Carrier testing
    4. Pharmacognetic tests
    5. Susceptibility/Pre-dispositional health tests
    6. Lifestyle/behavioural tests
    7. Nutrigenetic tests
    8. Phenotype tests
    9. Genetic relatedness tests
    10. Ancestry tests
    11. Genetic matching

    The section on provision of results (section 10, pp14-16) suggests that categories 1-3 and possibly 4 are likely to come with medical counselling recommended and a hefty regulatory framework, whereas the rest just need “appropriate levels of support”.

    With regards the seriousness of some current tests, question 4 helpfully illustrates the difference between “pre-symptomatic” and “pre-dispositional” testing:

    It should be relatively easy for test providers, regulators and consumers to determine the category of a test that is either very strongly (pre-symptomatic tests) or very weakly (susceptibility tests) able to determine whether an individual will develop a condition: such as BRCA1 and 2 tests that are able to strongly determine the development of breast cancer and the T allele of rs3803662 located on chromosome 16q12 is only weakly able to determine the development of breast cancer. However, genetic tests that have a moderate ability to predict the development of a condition such as CHEK2 mutations that are associated with a 13% lifetime risk of breast cancer may create confusion and in turn lack of consistency amongst commercial providers as to the categorisation of tests. An approach might be to suggest a penetrance of 5% or more as an appropriate threshold for pre-symptomatic tests.

    I can’t tell if this is a work of towering erudition, or a classic British after-the-horse-has-bolted fudge. Or both.

  18. #18 keith grimaldi
    March 16, 2010

    Steve – if you don’t mind I will reply to your blog post here (as long a Daniel has no objections either, I don’t know if I am breaking the etiquette, it’s just to keep most of the discussion in one place).

    Your post is much clearer and your position can be respected, it’s one that many hold and there are many common points to agree on.

    It’s much more easy to understand when the language is less colourful and the personal insults are stripped out! – and your letter to the Nat Biotech editor was clear enough. I have no problems with language and insults, when they are used appropriately, but as you say this is a serious topic and deserves serious discussion.

    Not all is clear, it never will be. When you say “Can someone OTHER than a pharmacist/doctor get access to medications? Not in the US” what do you mean exactly? Medications are available in Walmart and Target, even those that were previously restricted to prescription only such as Tagamet – are they not medications any more?

    No problems with following laws, if they are there and you break them then you face the sanctions.

    My wish is to have clear regulations whatever they are – the reality is that after nearly 10 years of DTC we are still not anywhere near them. This is why the HGC are pushing the Code of Practice – don’t confuse this with industry self-regulation though, it’s an initiative involving industry, academics, medics, regulators and ethicists (info and link on my blog). Without regulation a strong code of practice is a good option that would help consumers/patients and the professionals sort the serious from the dross.

    One reason for slow progress on regulations is exactly the question of what to regulate – akin to what medications should be OTC and what should be controlled by medics/pharmacists. My opinion though is that while it may be preferable to do carrier and serious risk testing through a practitioner I still want to be able to do so anonymously and directly if I want. I don’t necessarily trust other people with such information, however noble they may be they may have no choice when it comes to disclosure.

    You don’t like the way some companies operate, fine to go ahead and criticise them but don’t conflate the whole industry into “parties & blimps, hip & cool” – maybe you don’t intend to but often it’s hard to tell. Many try to market medical information services in a responsible way. The language used may sometimes be tortuous or opaque and the disclaimers may offend but that is also a consequence of a highly proactive sector of the legal profession. All of the agency sites that run risk assessment calculators (NIH, CDC, NCI, ADA, etc), have similar “for information only, not for medical use” disclaimers, it’s not a DTC thing and I don’t think it’s something worth dwelling on anymore.

    Another reason for urgency is that soon the “testing” part of DTC will be redundant. If decodeme interpret my DNA results from my 23andme test, are they doing medicine? They are certainly not covered by most of the proposed regulations, or even the in place regulations in Germany as all require the involvement of a biological sample. Interpretation sites are going to start springing up all over the place once genotyping / sequencing becomes commonplace, they will be unregulatable and they will sell all sorts of weight loss, child IQ, athletic ability, cancer prevention, erectile dysfunction rubbish. It’s fine to have strong positions but we also have to deal with the reality of what is here now and what is coming.

    King Cnut apparently was not so stupid, he wasn’t really trying to push back the tide, he was trying to show to his people that it’s impossible.

  19. #19 Steven Murphy MD
    March 16, 2010

    @Keith,

    So let me see if I get what you are saying.

    1. Regulations are fuzzy
    2. The Definition of practicing medicine is fuzzy
    3. There are a hoarde of charlatans and hucksters coming
    4. We should give up standing for anything because there are too many of them.

    Is that correct?
    If so.

    1. regs are fuzzy.

    I agree, that is what the legislators and regulators are for

    2. Def. of medicine is fuzzy.

    Here is a litmus test.

    Do you tell someone they have something that is classifiable in the International Code of Diagnoses?
    If yes, you just diagnosed someone. That, is medicine.
    That wasn’t so hard was it?

    3. The Charlatans and Hucksters are coming, a lot of them.

    Why the hell do you think I am fighting so hard to get this shit straightened out now? We slept for 20 years and now need to move G-dDammit!

    4. We should give up standing for anything because there are too many of them….

    You can’t be serious. Nothing is impossible. Complacency and unwillingness will do nothing to prove this.

    Plain and simple.

    If you are practicing medicine, say so
    If you are performing a medical test, say so

    the last group of hucksters who both you AND the medical community don’t want to be associated with FCUkEd It Up.

    Founders money removed from the company?

    They FCUKED it up.

    Hopefully the next batch does better……..

  20. #20 Andrew Yates
    March 16, 2010

    “if it’s medicine, say so”

    and

    “they fucked it up”

    Come on Daniel. We’re not all good chums. They fucked up, and now the bag man is here. We don’t believe in aristocratic grace from behind the bag on this side of the pond.

  21. #21 keith grimaldi
    March 16, 2010

    @Steve – no you don’t (get what I am saying)

    1. I said I would welcome clear regulations, I also said that nearly 10 years of debate later (not everyone was asleep waiting for you to come along, but of course all voices and opinions are welcome at any time) we are still not close, so alternative proposals are necessary.

    2. It’s not so simple in reality and we all know that. Supermarkets sell medicine, pharmacists give advice that could be considered diagnosis, even if strictly speaking they are not supposed to. Paramedics make quick diagnostic & clinical decisions and save lives. If there are actually regulations in place that prohibit DTC testing for something like CF then these companies are breaking the law – if that is the case then the authorities are at fault here. I’m not going to defend anybody breaking such a law just because I would prefer a different law

    3 & 4. “We should give up standing for anything” How on earth did you read that in my comments? I think I was saying precisely the opposite. Given (1), my preference to inertia is to follow a strict Code of Practice that would require complete transparency in what is tested, what genes and variants are used, full bibliography, honest and accurate marketing, detailed descriptions of how the risk assessments are arrived at – read them please, the links are in my previous comments and also kindly provided by Neil.

    Further I would say that the current group of companies have been quite faithful to the Code (23andMe, decode and Navi were part of the discussions from the start)and I wouldn’t describe them as you do. I believe that the HGC code should be adopted widely, it’s the result of the efforts of many individuals over many years actually doing something to improve the situation, we are far from unwilling and complacent.

    There are some bad practices out there right now, they are very easy to identify. My recommendation to everyone is do not buy a test from any company that fails to follow the code – there are some companies that want several hundred euros/dollars without even listing the SNPs in the test but make outrageous claims. There will be many more coming which is why I said that there is urgency

  22. #22 Steven Murphy MD
    March 16, 2010

    @Keith,
    Believe it or not, I have been following this for a little under a decade. Yes before DTCG.

    1. Just because we have had debate, doesn’t mean that debate is over. But what do you mean by not close. Do you mean, not close in defining what is medicine? Seriously? WTF is wrong? Did you diagnose? Did you treat? Did you prevent?

    2. The paramedic issue is simply a red herring and B.S. EMT’s and Paramedics receive healthcare training, unlike Python programmers and Rich Socialites that do V.C. work

    3. The benefit to society of an EMT or Paramedic stepping over the line is pretty clear. Of a DTCG? Hmmm.

    4. Why are regulators at fault? For not enforcing the laws? I would say CDPH and NYSDOH did an ok job with this. Not the greatest but an ok moratarium

    Code of Practice is a good start and professions do this. Which is nice. But what good is the code if the code is “we are going to tell you exactly how we will be practicing medicine without licenses”?

    There are indeed many charlatans coming. Why? They were emboldened by the lack of enforcement from the first batch….

    It will only get worse from here. I hope we are willing to get back to the basics of saying what we do and why we are doing it.

    If you do medical testing, say so. If you diagnose disease, say so. Don’t say….hmmmm it’s kinda gray here so I will err on the side of hazy and debatable. People are sick of that.

    -Steve

  23. #23 Anonymous
    March 16, 2010

    Steve,

    The result of CDPH’s investigation was that 23andMe and Navigenics were in compliance with state law. Who are you to argue with them? What constitutes “practice of medicine without a license” is a legal question, not a medical one. Which seems curiously ironic.

    The legal definition of the practice of medicine is not as fuzzy as has been suggested. But I am not a lawyer, so I’ll just post the text of the section of the California code that seems most relevant:

    2053.5. (a) Notwithstanding any other provision of law, a person who complies with the requirements of Section 2053.6 shall not be in violation of Section 2051 or 2052 unless that person does any of the following:
    (1) Conducts surgery or any other procedure on another person that punctures the skin or harmfully invades the body.
    (2) Administers or prescribes X-ray radiation to another person.
    (3) Prescribes or administers legend drugs or controlled substances to another person.
    (4) Recommends the discontinuance of legend drugs or controlled substances prescribed by an appropriately licensed practitioner.
    (5) Willfully diagnoses and treats a physical or mental condition of any person under circumstances or conditions that cause or create a risk of great bodily harm, serious physical or mental illness, or death.
    (6) Sets fractures.
    (7) Treats lacerations or abrasions through electrotherapy.
    (8) Holds out, states, indicates, advertises, or implies to a client or prospective client that he or she is a physician, a surgeon, or a physician and surgeon.
    (b) A person who advertises any services that are not unlawful under Section 2051 or 2052 pursuant to subdivision (a) shall disclose in the advertisement that he or she is not licensed by the state as a healing arts practitioner.

  24. #24 Andrew Yates
    March 16, 2010

    @Anonymous
    Now, I may just be a law abiding citizen. But I do see that your statement meets all the technical requirements of truth. Who am I to argue with Anonymous? Which seems curiously ironic.

  25. #25 Geneticist from the East
    March 17, 2010

    “(4) Recommends the discontinuance of legend drugs or controlled substances prescribed by an appropriately licensed practitioner.”

    Do you think 23andme’s Drug Response section can violate this part of law? Say if you find Plavix is not effective for you through 23andme, does that mean they recommend you to try alternative???

  26. #26 keith grimaldi
    March 17, 2010

    @Steve – “But what do you mean by not close”

    I think I was clear about what I meant we are not close to but I still got a WTF from you so just in case it was not clear to others as well: We are not close to getting useful regulations for the oversight of DTC genetic services leaving room for all sorts of undesirable products.

    Nothing to do with the definition of medicine – in fact I don’t think there is much argument over the definition, the problem seems to be to define what areas of medicine can be performed by people without a medical degree, or maybe what are the actions that MUST be performed by a medic, as in the CA list above provided by Anonymous who also pointed out that these tests/services have been cleared by CA and NY.

    A couple of your statements don’t seem to go well together though:

    “Why are regulators at fault? For not enforcing the laws? I would say CDPH and NYSDOH did an ok job with this. Not the greatest but an ok moratorium” … “There are indeed many charlatans coming. Why? They were emboldened by the lack of enforcement from the first batch…” – This sort of sums up the clarity of the current regulatory environment.

    Regarding your (2) and my B.S. paramedic comparison, are you saying that some or all of the DTC companies are relying on “Python programmers and Rich Socialites that do V.C. work” to research and create the genetic reports rather than people qualified in science and medicine? If you believe that any of the companies are breaking the law then file a complaint. If you think that they are using dishonest marketing and making unsubstantiated claims you could take it to the FTC.

    What use is a code of practice? It guarantees several things including transparency. No one in this field is clear on all aspects of what is OK and what is not. By saying clearly “this is what we are doing, or intend to do, this is how we do it and this is why” we are allowing (a) possible illegal aspects to be clarified, (b) scrutiny of claims and (c) informed debate / review. All of which helps & protects the customer. Since whatever regulations or code exists there will always be dodgy goods then at least we need to have a situation where a consumer can be confident of certain products & services while also understanding that, for example, buying pills from an online pharmacy is risky. One of my biggest fears is that personal genetics may become as confusing as the supplement industry (and NO – just letting Medics control personal genomics is not the answer…).

  27. #27 Neil
    March 17, 2010

    http://www.bmj.com/cgi/content/full/324/7342/863
    Melzer, D. & Zimmern, R. (2002) BMJ;324:863-864
    Genetics and medicalisation
    Genetics could drive a new wave of medicalisation if genetic tests are accepted without appropriate clinical evaluation

    Given Ron Z seems to have based his career on this, and is one of the author’s of the HGC guidelines doc, this nuanced editorial is worth a read – e.g.:

    The genes that play a part in the pathogenesis of most common disorders are for the most part as yet unidentified and their role ill understood. Individually their predictive value is low, and at present there is little to suggest that they will have any greater clinical value than more conventional physiological risk markers, such as blood pressure or cholesterol concentrations. We believe, as do others, that the arguments for “genetic exceptionalism”—for treating genetic information and tests as somehow special—are not compelling. Outside the high penetrance, single gene disorders, genetic tests, like most other medical tests, provide evidence only of statistical risks.

    Most physiological deviations are continuously distributed in the population, and most pathological processes give rise to a range of severity in clinical signs and symptoms. Clinical practice requires the establishment of agreed cut off points to identify disease and to separate people for whom treatment should be beneficial from other patients for whom the risks of diagnosis or treatment might outweigh the benefits.

    Over time, the tendency has been to expand diagnostic and treatment boundaries, and to include in the “disease” category people with milder manifestations of pathology and lower levels of risk. Genetic tests for markers that may not result in symptoms for half a century or more could be new examples of a process of premature medicalisation—of attaching the “disease” label before it has been established that prevention or treatment is clearly beneficial. Treating the presence of a genetic marker as though it were the clinical disease can be very unhelpful.

    We seem to be arguing not so much about whether there are “medical” and “non-medical” genetic tests, but who gets the right to decide which is which.

  28. #28 Steven Murphy MD
    March 17, 2010

    @Neil
    I had a post on this 2 years ago entitled “pre-disease is the new disease”

    We do this for other things. Pre-Diabetes, Pre-Hypertension.

    We classify disease according to the International Classification of Disease 9th edition. The 10th is slated to come out soon and is going to be much larger.

    When we are done, everyone will have some sort or predisposition. Think GATTACA.

    The only question we are debating is, will we let unlicensed quacks practice medicine or test for disease? Or will we call it what it is and own up to it and accept regulations. Rather than avoid them in shady ways to increase market.

    The market is NOT the US, or any other country with stiff regs. It is the East. That being said, quackery and withdoctoring are still practiced in places without these regulations.

    Is that what we want our “health” companies to be? Regulation hiding, misrepresenting, devious profit driven ventures which currently have little value for mankind, but in the end could affect the lives of billions?

    I am for real transparency. In marketing and utilization here.

    @Neil

    As for what a disease Is. It depends on what your definition of “is” is.

    -Steve
    p.s. I am done posting comments on this blog post. Our thread has nothing to do with Daniel’s post.

  29. #29 keith grimaldi
    March 17, 2010

    @Neil

    Thanks for bringing up the article – I’ve had several conversations with Ron Zimmern which had a lot of influence on my views on regulation. I can highly recommend the PHG Foundation as an excellent resource for public health genomics. They have a very interesting commentary on the recent German legislation which effectively bans DTC genetic tests “…a regressive and paternalistic approach that takes genetic exceptionalism to an extreme not seen in other jurisdictions. It is unclear upon what grounds this special treatment of genetic tests is justified…”

  30. #30 keith grimaldi
    March 17, 2010

    @Steve – 100% agreement, I have enjoyed Daniel’s hospitality but we may have overstayed our welcome. Since there has just been some twitter about regs and clinical utility I have just posted a blog, excerpts from a related review we have written – Regulations, Clinical Utility & Personal Genetics

  31. #31 Andrew Yates
    March 19, 2010

    @Geneticist from the East
    Do you think 23andme’s Drug Response section can violate this part of law? Say if you find Plavix is not effective for you through 23andme, does that mean they recommend you to try alternative???

    That’s an interesting question. 23andMe itself promoted the idea that “most 23andMe users” should “enlighten” their cardiologists with this report —presumably for Warfarin dosing. However, such a promotion would be an active promotion by 23andMe to its users to violate section three of the 23andMe contract which forbids such use. You can see so for yourself on 23andMe’s twitter: http://twitter.com/23andme

    I’m not sure who is in charge of legal compliance at 23andMe, but that seems to me like something that would void the clause protecting 23andMe from the regulatory definition of medicine in an unpleasant way. That would not be good for 23andMe.

    Law for us but not for 23andMe, apparently. Apparently, the 23andMe contract is just fine for avoiding medical regulations, but perfectly and openly ignored in use, promotion, and whenever else is convenient.

  32. #32 Neil
    March 19, 2010

    I take it part of the context for #25 and #31 comes from this story from earlier in the week?

    FDA’s New Plavix Black-Box Warning Could Trigger Surge in CYP2C19 Testing
    http://www.genomeweb.com/blog/fdas-new-plavix-black-box-warning-could-trigger-surge-cyp2c19-testing

    The black box warning itself is at the top of the prescription sheet, and states:

    Tests are available to identify a patient’s CYP2C19 genotype and can be used as an aid in determining therapeutic strategy

    linking to a section on the relevant genotypes – http://products.sanofi-aventis.us/PLAVIX/PLAVIX.html#S12.5

    Most of the commoner “alleles” (haplotypes?) seem to be tested by 23andme
    https://www.23andme.com/health/Clopidogrel-Plavix-Efficacy/

    As Andrew Yates, Steven Murphy MD and others have noted, whatever the 23andme disclaimer, this looks mighty close to being a DIY medical test.

  33. #33 Susannah
    March 23, 2010

    I haven’t had genetic testing done, and I doubt that I will; I’m old enough now that any genetic risks will probably have showed up.

    But …

    This whole issue of “psychological damage” if you know what may lie in store for you: my mother died of Alzheimer’s disease. So did her sister and her brother. Her two other brothers are in the middle stages. If there is any genetic element in Alzheimer’s, then I stand a good chance of showing symptoms very soon now.

    So I know as much as genetic testing, on that score, would indicate. Does that keep me awake nights? Not at all; it just led me to make preparations; my family knows who is to take control of my finances, when or if the day comes that I can’t handle it. They know that they have permission to make decisions for me at that time, whether I want them or not. (We had problems with getting Mom to consent to outside care.)

    My affairs are in order. I don’t take on long-term debts. I don’t burden myself down with too much stuff for my kids to have to clean up. And I enjoy each day to the fullest.

    All to the good, even if I live to 100, sane and alert. Life is good, and better for my preparations.

    As to privacy issues, any insurance or medical organization can look at my family history; I couldn’t hide it if I wanted to. The same would be true of most people.

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