Genetic Future

The NY Times has an article entitled “Buyer beware of home DNA tests” that adopts the paternalistic party line of the medical establishment: taking DNA tests without a doctor’s advice is hazardous to your health.

Remarkably, the article acknowledges that qualified genetic counsellors are few and far between and that “most practicing physicians lack the knowledge and training in genetics to interpret [DNA tests] properly”, and yet still suggests that customers should “take the findings to a qualified expert”.
Begging the question: which qualified expert should customers be taking their test results to? The over-worked genetic counsellor who has enough on their plate dealing with serious genetic conditions without having to worry about a patient with a type 2 diabetes relative risk of 1.17? Or the general practitioner who understands less about modern genetics than the typical DTC genetics customer?
Until the medical community corrects its utter failure to anticipate the emergence of modern genetics, the best advice for a DTC genetics customer is this: 

  1. Do your research before you buy a test; 
  2. Only buy a test from a credible provider; 
  3. Read as much as you can (both from your provider and from independent sources) about what your results mean;
  4. Engage with your data, question it and follow up with your provider if you find your results to be contradictory or confusing; and finally
  5. Seek medical advice if you are considering using your test results to make major health or life-style decisions.
Don’t get me wrong – when it comes to serious medical decisions, doctors know stuff that Google doesn’t. But right now, the probability that your regular doctor would be able to give you a more accurate impression of your 23andMe results than you get from the 23andMe website along with independent reading is very, very small.

It’s clear that the NY Times writer has spent a little too much time chatting to people taking the traditional medical view of genetic information, without considering that these people have a strong motivation for keeping people scared about the dangers of unguided access to their own genomes. I think this warrants a recycling of a statement I made in a post back in April:

It’s important to view this debate in its social context, as a turf war in which clinical geneticists are fighting an increasingly desperate rear-guard action to defend their traditional monopoly as purveyors of genetic health information from commercial usurpers.

So long as there are personal genomics companies doing a better job of explaining complex genetic data to consumers than doctors can, it’s hard to see advice like “take it to your doctor” as anything other than desperate, protectionist spin from an establishment rapidly losing traction on its long-term monopoly.
And it’s not just personal genomics companies that are doing a good job of conveying information to customers: personal genomics customers themselves are also forming and enthusiastically engaging in communities to share the details of their results. As these communities grow in size and expertise they will become more and more valuable sources of information for new customers. Dan Vorhaus has an excellent recent post (spinning off from recent discussion about errors in personal genomic data) arguing for the value of “crowd-sourcing” genetic data in this way. For most types of DTC genetic data, customers will get far more out of engaging in these communities than in taking their data to their GP.
There are nuances here, which I can’t explore in detail here – but for more sensible discussion of the NY Times article you should check out this balanced post from Jen McCabe. Here’s a taste:

Do I expect DTC genetic testing companies to ‘cure’ Celiacs? Or breast cancer? Not mine, maybe (and don’t worry, I don’t have breast cancer, but I DO have Celiacs). But I also understand that to advance the study of these conditions as a whole DTC genomics companies are paving the way for consumers to consider our genetic data our OWN asset(s). Any sector that accomplishes this lofty goal – and has established a collection, storage, and sharing process for this data to connect (eventually) my individually relevant personal health data to public health researchers with whom I elect to philanthropically share it – has my vote for a sector where e-Patient advocacy is beneficial (mine, and others).

Comments

  1. #1 Comrade PhysioProf
    September 2, 2009

    For the overwhelmingly vast majority of people, the time, effort, and expense of “personal genomics” followed by appropriate genetic counseling would have a far better health impact if expended on joining a fucking gym and spending at least an hour-a-day working out.

  2. #2 anomalous
    September 2, 2009

    People can’t handle home pregnancy tests and those decimal numbers on their Labcorp printouts.

    Googling for C-Reactive protein and White blood cell count is COUNTER PRODUCTIVE and dangerous to your health.

  3. #3 Paul Jones
    September 2, 2009

    “Buyer beware” is what we should always adopt for any purchase.

    But DTC genetic testing is not dangerous; hospitals, medicines, and doctors ARE.

    No one will EVER die from a DTC swab.

    People die from medical “standard of care” and licensed practitioners EVERY DAY.

  4. #4 becca
    September 2, 2009

    So what you’re saying is, there’s a job market for geneticists who can communicate well, if they understand the tests better than the scarce genetics counselors?

  5. #5 Steven Murphy MD
    September 2, 2009

    Daniel,
    A coupla things.

    “So long as there are personal genomics companies doing a better job of explaining complex genetic data to consumers than doctors can”

    If they are doing what doctors do, then tell me why that is not considered medicine and should not be regulated as such?

    “it’s hard to see advice like “take it to your doctor” as anything other than desperate, protectionist spin from an establishment rapidly losing traction on its long-term monopoly.”

    No, this is not the advice doctors are giving my friend, it is the advice the chicken shit DTC companies are giving to avoid legal liability for the half assed risk assessments they are giving. Just like SB482. Why can’t you see this point?

    And by the way, doctors like me are saying, don’t bring this to your doctor. Hell don’t even waste your time using this for health care.

    Seriously…..

    -Steve

  6. #6 Daniel MacArthur
    September 3, 2009

    “So long as there are personal genomics companies doing a better job of explaining complex genetic data to consumers than doctors can”

    If they are doing what doctors do, then tell me why that is not considered medicine and should not be regulated as such?

    If medicine is defined as “doing what doctors do” (a rather self-serving definition, I might add) then accurately interpreting personal genomic data clearly isn’t medicine, because doctors can’t do it.

    “it’s hard to see advice like “take it to your doctor” as anything other than desperate, protectionist spin from an establishment rapidly losing traction on its long-term monopoly.”

    No, this is not the advice doctors are giving

    Erm, yes it is. Or does “The health care professional should be responsible for both ordering and interpreting the genetic tests” mean something different in doctor-speak?

    And by the way, doctors like me are saying, don’t bring this to your doctor. Hell don’t even waste your time using this for health care.

    Meanwhile, the American College of Medical Genetics is saying “Genetic tests of individuals or families for the presence of or susceptibility to disease are medical tests.” Those are some mixed messages you guys are putting out there…

  7. #7 Steven Murphy MD
    September 3, 2009

    Man,
    Have these DTC marketers gotten to you! You are confusing 2 things as one. Which is precisely what the marketing team and 23andSergey want you to do.

    First off,
    Number 1-Doing what doctors do: I.E. interpreting biologic sample data which have been clinically validated to predict risk for disease IS medicine. See Reynolds Risk, Wells Score, TIMI score, Ranson’s Criteria, CHADS2 score, and YES BRCA testing.

    What you seem to be confusing is what is not really medicine “yet”

    Number 2- Weak SNP tests which have not been clinically validated as adding anything to the risk assessment of patients.

    Why are you confusing these as ONE? Because 23andSergey Sells them as one. And Freakin Navi’s marketing makes you think that their number 2 is actually number 1.

    This is why you are confused with the message that ACMG and myself are putting out there. Because they are covering different TESTS!!!!! (Like my self serving exclamation points?)

    Clinically validated genetic tests (which in my mind function just like a d-dimer does)versus NON Clinically validated tests.

    That IS the difference. Now we can get into the misrepresentation of non valid tests as clinical tools, but that is a subject for the FTC and ethicists…..

    So when I say
    If DTC is doing what doctors do I.E. taking biologic samples of humans and applying clinically validated tests, interpreting them and giving a risk of disease, I say, yes it is medicine and that is not self serving. It IS WHAT IT IS……

    -Steve

  8. #8 Dan Vorhaus
    September 3, 2009

    Steve –

    I think part of the problem is precisely that “doctors like [you] are saying, don’t bring this to your doctor. Hell don’t even waste your time using this for health care.

    I appreciate the “don’t use this for health care” message – it’s one that most DTC companies understand, although I agree that in some instances they could present that message less ambiguously – but that limited message is frequently expanded, either implicitly or explicitly, to “don’t use this at all.” Often by medical professionals. And that’s a problem.

    Whether you agree with it or not, there is consumer and patient demand for the information supplied by the DTC companies. By failing to recognize any of the benefits that DTC genomics provides, particularly where they do so in the absence of capacity or interest from traditional sources of guidance (doctors, genetic counselors, etc.), protectionist viewpoints such as the one put forward in the Times risk pushing the debate in the direction of paternalism and proscription, which I think would be a grave error. It’s where Germany is about to wind up, and I don’t think that’s a good thing at all.

    If you’re interested, I wrote more about this today at the GLR. Thanks.

    – Dan

  9. #9 Matthew Markus
    September 3, 2009

    Look out, I am about to practice some medicine:

    http://www.mdcalc.com/chads2-score-for-atrial-fibrillation-stroke-risk

    These tools need to be outlawed, right? The thing is, the clinical validity or non-validity of a test is not important. An interpretation in a vacuum is not important either. What is important is an assessment done in anticipation of a plan. For instance, using CHADS2 in the treatment of cardioembolic stroke. That is the practice of medicine. Using genetics without formulating a plan is just recreation and should be treated as such. In fact, people actually formulate life-altering plans, such as starting an exercise program or smoking, without consulting a physician. Shouldn’t the medical establishment be more upset about these actions than DTC genetic testing?

  10. #10 Sigmund
    September 3, 2009

    “Shouldn’t the medical establishment be more upset about these actions than DTC genetic testing?”
    If they had the opportunity to get a fee from it then they would be. As you imply, genomic screening is much less health altering than smoking or exercise. It is simply information about an individuals genetic makeup. In fact most of the information has nothing to do with health. Should someone who is interested in genetic ancestry be forced to pay a fee to a physician simply to be allowed to examine their data?
    Its a blatant turf war over the idea of paying the medical establishment a fee to access to ones own personal information.

  11. #11 Steven Murphy MD
    September 3, 2009

    This fee argument is pure garbage. What fee? Show me a doctor who gets paid fees to order tests without providing medical care?

    -Steve

  12. #12 Sigmund
    September 3, 2009

    “This fee argument is pure garbage. What fee? Show me a doctor who gets paid fees to order tests without providing medical care?”
    Did you seriously type that with a straight face?
    I suppose, to be charitable, the answer to your question depends on your definition of medical care.
    How do you define it?

  13. #13 Dan Vorhaus
    September 3, 2009

    Steve –

    The fee argument is an issue that I think you do need to address, in part because you haven’t well clarified (at least for me) what you intend by “regulation.”

    Over on your own blog you distinguish between red, green and yellow tests and then say that red tests (i.e., testing and interpretation of SNPs that are predictive of disease) must be regulated. But what does that regulation entail?

    That such tests they may only be ordered by physicians? That they may only be interpreted by physicians? Is any MD qualified or are only those with sufficiently comprehensive and recent training qualified to interpret the results? Is it important to you that there is a sufficient supply of qualified interpretive organizations or individuals to meet demand for these tests/services (which you, the NY Times and others have recognized is not presently the case)?

    Please correct me if I am wrong, but I assume that you envision a primary (and possibly exclusive) role for physicians in the ordering and/or interpretation of what you refer to as red tests. If that is the case I do think that you need to more clearly address (i) the clear financial incentive to retain exclusive control over that domain and (ii) how and why physicians are uniquely qualified to serve as the gatekeepers of this particular form of information (as opposed to the delivery of medical care based on that information).

    Thanks.

    – Dan

  14. #14 Steven Murphy MD
    September 3, 2009

    @Matthew Markus and @Dan Vorhaus

    How did you obtain the data to calculate a CHADS2 score?
    CHF? How do you diagnose that?
    Hypertension?
    Diabetes?
    Prior Stroke?
    These all require diagnoses. Which are done via medicine.

    Then you may formulate a plan. But a plan is not what defines medical care.

    I repeat, the use of a HUMAN biological sample to run a test which detects a substance in that person for the aim of applying an algorithm or decision to determine one’s risk for disease IS MEDICINE.

    Whether it is a sodium or a SNP.

    Some states in the US allow you to have access to the labs, without interpretation, some don’t.

    Usually, interpretation is regulated, requiring licensing, accreditation, malpractice insurance, examinations and determination of proficiency and knowledge.

    These are the regulations I am asking for.

    Sample without interpretation is NOT medicine.

    So, you want the raw data? Go out and get it. No prob.

    You want interpretation? That interpreter better be regulated to assure its reliability, safety and it better accept responsibility when it is incorrect. This allows the subject to sue for improper interpretation. Which is the right of all citizens. In medicine, you actually can’t have 3 pages of disclaimers. You have to provide informed consent. The subject has to be able to and demonstrate understanding of risks and benefits and limitations. Each subject should have to demonstrate this. That is why the PGPers had to take a test…….

    Anything less than this is not proper. Why? We pull lettuce for E.Coli, we pull tons of peanut butter for one unsafe batch. Why would we not assure the safety of the public here?
    True, E.Coli can cause disease IN SOME, but not all, all of the time. There is a risk of danger. That is why it is pulled.

    The regulations here should apply to the interpretation. Do I think ONLY doctors can do this? No, but I think the only people who have the intestinal fortitude to accept FULL responsibility without any Bull$h!t 3 page set of disclaimers ARE physicians.

    Unless these companies are willing to drop disclaimers, carry insurance and take full responsibility for what they do, then yes, it should fall in the realm of physicians.

    The what that is regulated is the RED Test. The Yellow remains yellow until it is claimed to ascertain disease risk……

    -Steve

  15. #15 Steven Murphy MD
    September 3, 2009

    @Dan,
    Why would you do a test for risk for disease without doing something about the risk. Even if that risk cannot be changed, you could still do planning. Wouldn’t you like to be assured by some third party that the person, machine or computer scientist is valid? Wouldn’t you like to be assured that the thing they used to come to that conclusion is valid as well?

    Why are people willing to trust a scientist or bubble con but not someone who took an oath to do no harm?

    I know the governmental bodies don’t trust companies to do the right thing. Why should we? We even ask physicians to pass proficiency testing, why not ask the algorithms. And what algorithms for that matter?

    These things often get far too complicated for non-scientists and non-clinicians, why not have a 3rd party body to sort it out for the public?

    That third party right now is the medical board of each state. I speak of interpretation NOT analysis of sample.

    Why should someone be exempt from proving that their interpretation of a human biologic sample which they obtained for the purpose of testing and using algorithms to interpret meets the “standard of care”?

    Why?

    I repeat, the big question here that needs to be asked of DTC is “Are you practicing medicine? If not, why not?”

    The guy from Pathway basically danced around the question at the IOM/National Academies meeting……

    They all need to answer this question. I can tell you why they are……and will tomorrow.

    -Steve

  16. #16 Steven Murphy MD
    September 3, 2009

    @Matthew Markus
    In what F’d up world is BRCA testing recreational?
    Huh? Tell me?

    -Steve

  17. #17 Matthew Markus
    September 3, 2009

    Dr. Murphy,

    It depends on what you consider BRCA testing to be. Simply being aware of breast cancer susceptibility is much less dangerous than recreational diving and can help an individual focus on a course of learning so that, when the time comes, she can engage in meaningful conversations with her health care providers instead of being a passive patient. Having the legal right to receive genetic information and disease risk statistics without a concomitant diagnosis is especially important for those individuals that have white coat syndrome or a general distrust of the medical establishment.

    Putting aside the issue of red-green color blindness, your whole red, green, and yellow regulation scheme is nonsensical. It would almost make more sense to regulate yellow tests and, once a test has sufficient analytical validity, to deregulate it. Furthermore, in reality, there are no green tests. As you know, even something as simple as eye color affects disease risk from the development of cataracts [1] to the progression of age-related macular degeneration [2]. My opinion is that your definition of “practicing medicine” is overly broad and, while I share some of your concerns, I have yet to see a regulatory framework that doesn’t favor monopolization of DTC genetics by physicians for purely economic reasons.

    [1] http://www.ajo.com/article/S0002-9394(00)00479-7/abstract
    [2] http://www3.interscience.wiley.com/journal/118897511/abstract

  18. #18 Sigmund
    September 4, 2009

    OK, say I go for a SNP test and find out that the results reveal it looks like I had a recent ancestor who was African – something that I wasn’t aware of prior to the test. Whats more the SNPs reveal that this ancestor is the source of one chromosome 11 (or maybe just the short arm). Now this would certainly increase the risk of me being heterozygous for sickle cell – but it certainly doesn’t prove it and it isn’t at a level of surety that would allow you to make medical decisions.
    To me this is simply some information that requires a proper medical genetic test in order to draw further firm conclusions – a proper screen for sickle cell mutations.
    That is the stage that physicians should become involved – NOT the initial genome screen and the same goes for all other genotypes revealed via SNP analysis.
    Nobody is trying to push physicians out of their proper role in medicine. What we are trying to do is prevent them positioning themselves as gatekeepers to other peoples genetic information when they clearly have neither sufficient knowledge of genetics nor any superior moral responsibility to assume this role.

  19. #19 Steven Murphy MD
    September 4, 2009

    @Matthew Markus
    “Having the legal right to receive genetic information and disease risk statistics without a concomitant diagnosis is especially important for those individuals that have white coat syndrome or a general distrust of the medical establishment.”

    Matthew, what you do not know is that the genetic identification itself IS a diagnosis V84.01 of the International Classification of Disease.

    Seriously, I understand why people with no sense of what the hell healthcare is all about are trying to get involved.

    I get it. The system sucks. 8 minute visits, incompetent doctors, scandal……I get it. But that doesn’t mean a few well intentioned silicon valley types get a free pass when the play doctor without accepting responsibility.

    You want to play doctor? Go to med school. Or join me as Drew and I revolutionize the way medicine is practiced. Patient visits 30 mins minimum, plus all the education you could want.

    “I have yet to see a regulatory framework that doesn’t favor monopolization of DTC genetics by physicians for purely economic reasons.”

    I challenge you to prove to me that this regulation is for purely economic reasons. Give me one shred of current evidence that this would be for economics and not patient/public safety.

    Good Day Sir,
    -Steve

  20. #20 Sigmund
    September 4, 2009

    “You want to play doctor? Go to med school.”
    And if you want to play geneticist get a PhD in human molecular genetics.

  21. #21 Steven Murphy MD
    September 7, 2009

    From the sounds of it it seems like the PhDs want to play MD. Ever heard of a Medicla Geneticist?
    -Steve

  22. #22 Sigmund
    September 8, 2009

    “From the sounds of it it seems like the PhDs want to play MD. Ever heard of a Medicla Geneticist?”
    I presume you meant medical geneticist?
    Anyway, yes I’ve heard of them. They are the individuals you go to see if you have some indication that there is a genetically related medical condition in your family and you want it confirmed or diagnosed.
    They are not trained in genome SNP analysis – or at least very few of them will have been trained in it at this point in time.
    Steve, the basic disagreement between you and the geneticists here is that we don’t agree that genomic SNP analysis is the same thing as a medical test for a particular condition. The idea of using a 23andme analysis for confirmation of BrCa1 or 2 mutations is preposterous.
    By your all encompassing definition of doing ‘medicine’ a home pregnancy test would be included. Nothing in SNP analysis regarding medical conditions even comes close to the accuracy of even the most basic home pregnancy kit.
    What do you do when you get a positive result from a home pregnancy kit? You go to a trained medic and get it checked properly.
    Why should it be any different with anything a SNP analysis shows up? The fact that some people are ill informed and may try to take rash and incorrect actions after getting SNP results is unfortunate but they are ultimately responsible for their own actions and the most dangerous of these would probably require medical intervention itself (taking particular drugs or carrying out particular surgery) and thus is very unlikely to happen (medics take and oath that prevents this sort of abuse, or so I’m told).
    To sum up, A. genome SNP scans may provide indications of possible disease risk. These possible risks are not validations and require B. proper clinical tests in order to make firm medical conclusions.
    I firmly believe that there is a place for properly trained physicians within this scheme and that is at point B.
    Not at point A.

  23. #23 Steven Murphy MD
    September 8, 2009

    @Sigmund,

    Respectfully, you are dead wrong. I challenge you to tell me the criteria you are using to determine what a clinical test is and what it is not.

    I use the CLIA definition,

    “testing on human specimens in order to obtain information that can be used for the diagnosis, prevention, or treatment of any disease or impairment of a human being; or the assessment of the health of a human being; or procedures to determine, measure or otherwise describe the presence or absence of various substances or organisms in a human body (42 C.F.R. sec. 493.2.).”

    The human substance? DNA. The health assessment? Risk of developing disease.

    It doesn’t have to be FDA approved to be a clinical test. These tests are clinical tests that have no evidence of utility.

    And your assumption about Medical Geneticists, I.E. Geneticists that are MDs

    “They are the individuals you go to see if you have some indication that there is a genetically related medical condition in your family and you want it confirmed or diagnosed.”

    You mean like genetic risk for breast cancer, heart disease, etc? Isn’t that what the tests you are running are inferred to detect?

    These doctors are not just for rare metabolic diseases or Connective Tissue Diseases……

    “They are not trained in genome SNP analysis”

    You mean the BRCA single base polymorphisms? I challenge you and state I felt very trained to interpret SNPs, CNVs, and regular karyotypic information. And we are trained to apply it clinically. Not just scientifically.

    “The idea of using a 23andme analysis for confirmation of BrCa1 or 2 mutations is preposterous.”

    Why? They are using a CLIA certified lab are they not? Why is this not a valid clinical test?

    “By your all encompassing definition of doing ‘medicine’ a home pregnancy test would be included. Nothing in SNP analysis regarding medical conditions even comes close to the accuracy of even the most basic home pregnancy kit.”

    Again, wrong on all accounts. A positive pregnancy test can indicate a blighted ovum, an ectopic, even a tumor. Hardly as analytically valid as a SNP call.

    And this binary pregnancy test thing is a Fallcy. I.E. based on a false assumption that a home pregnancy kit is more analytically valid than a SNP test.

    To sum up, you do not understand medicine, thus your assumptions are flawed. This makes your argument a fallacy. DTC genomics are clincal tests preformed by people which don’t have medical licenses, but should be regulated to have such.

    Based on the legal definition put forward by the Clinical Laboratory Improvements Act these SNP tests ARE clinical tests.

    Doctors order clinical tests, and interpret them. Clinical labs run them. ALL ARE REGULATED. The days of the apothecary are over, why do PhDs want to bring them back?

    It is against the interest of public safety to allow this to continue.

    -Steve
    http://www.thegenesherpa.blogspot.com

  24. #24 Sigmund
    September 9, 2009

    “To sum up, you do not understand medicine, thus your assumptions are flawed.”
    Where are we? Playing doctors on some sort of nursery school playground?
    If that is the pathetic level you need to descend to try to avoid the substantive point then fair enough, just post that and forget about the rest of it.
    The fact that you see 23andme snps as valid for confirming a BRCA1 or 2 mutation status is, frankly, disgraceful.
    I sincerely hope you are simply using argumentative hyperbole and have never done this in a clinical setting.

  25. #25 anomalous
    September 9, 2009

    data wants to be free

  26. #26 Steven Murphy MD
    September 9, 2009

    @Sigmund,
    Are you serious? The standard of care for ASHKENAZI jewish people with a high likelihood of carrying a BRCA mutation is to start with these SNPs.

    http://www.snpedia.com/index.php/I4000377

    http://www.snpedia.com/index.php/I4000378

    http://www.snpedia.com/index.php/I4000379

    You sir are officially disqualified from learned discourse in the clinical realm. Rather than address my questions about what you define a clinical test to be, you try to play straw man by stating something I did not argue all the while not answering the question…..

    You are wrong. I am correct. This IS a clinical test, used ALL the time via a CLIA certified lab. Whether it be Myriad or Yale.

    They check for the same biological sample and the presence of the same DNA……

    I am an excellent clinician and don’t need to defend myself to someone who obviously doesn’t know the clinical standards of care in cancer genetics…..

    God Speed in your quest to endanger the public.

    -Steve
    http://www.thegenesherpa.blogspot.com

  27. #27 Sigmund
    September 10, 2009

    Cut out the dishonest strawman approach.
    It is unbecoming of you in a serious debate about a serious question.
    If you bothered to read what I wrote you would notice that I stated that it is unreasonable to use genomic snps for CONFIRMATION of BRCA mutations.
    You are the only person I have ever heard who has said it is reasonable to use 23andme screens for clinical validation purposes. I completely disagree.
    I have stated several times that I see clinical geneticists as playing a vital role in the medical side of genomics.
    I have no intention of excluding them from the process.
    Where we differ in opinion is that you seem to think clinicians should be the sole gatekeepers of access to genomic screening. Reading between the lines (don’t bother with the ‘I’m a doctor, so I know everything’ stuff, it doesn’t work with me) I get the impression that you think there is a danger that some minority of people will over-interpret their 23andme results and take drastic and dangerous medical action. In order to prevent such possibilities you want to restrict the test.
    Do you not see that your irresponsible statement that 23andme tests can be used as a validation of a genetic disease actually contributes to this danger?

  28. #28 Steven Murphy MD
    September 10, 2009

    Tell me how I am saying YOU say something that you are not.
    That is what a strawman argument is.

    And stop calling these genetic markers SNPs! SNP is present in at least 1% of the general population. Maybe a SNP for Ashkenazi Jews, but NOT Caucasians!

    P is for polymorphism. NOT Mutation!

    Clinician are not Gatekeepers to your RAW DATA!!!!

    OK, I NEVER SAID, the whole 23andMe scan was to be used for this. I did say, the markers, ARE the SAME genetic markers used CLINICALLY.

    You are wasting my time. My statement that THESE Markers are the SAME. Is not saying use 23andme test to decide whether or not to have prophylactic mastectomy.

    Never said that. You are using strawmen, not me.

    1. 23andme test the SAME Markers in the Ashkenazi Jewish Panel for Myriad/Yale/Etc.
    2. Clinicians should not use 23andMx instead, they should use approved genetic testing to make clinical decisions.
    3. the mutations tested by 23andSergey ARE clinical markers. When you indicate risk for disease because of these, you are practicing medicine.

  29. #29 Daniel MacArthur
    September 10, 2009

    Steve,

    A quick semantic point: restricting the term “SNP” to variants over 1% frequency is not at all a universally established definition. In large-scale genomics (e.g. the 1000 Genomes Project) we use the term to refer to any single-base substitution variant regardless of its frequency; and SNP chips will still be SNP chips when they’re genotyping variants at a frequency of less than 1%. Sigmund’s use of the term is perfectly acceptable among geneticists.

    The “mutation/polymorphism” dichotomy is a bizarre and arbitrary division that is pretty much only used by clinicians. A cleaner definition is this: a polymorphism is any variation within a population; a pathogenic or disease-causing polymorphism is any genetic variant associated with disease; and mutation is the process by which polymorphisms arise.

    Oh, and both of you: quit the accusations of dishonesty and “quests to endanger the public”. This conversation is still constructive, but it will rapidly become non-constructive if people start imputing motives rather than arguing the facts.

  30. #30 anomalous
    September 10, 2009

    Just wait ’til the computer vision algorithms out-perform the radiologists !!!

    (ducks)

  31. #31 Dr. Tegay
    September 22, 2009

    So, some of the things that personalized genomic companies like 23andMe now include on their panels are “SNP’s” within KNOWN disease causing genes, such as BRCA1 and BRCA2, and it just so happens that some of these SNP’s that they report information back directly to the consumers on are KNOWN to be pathogenic or disease-causing polymorphisms, such as the common Ashkenazi Jewish BRCA founder mutations that they list as SNP’s on their panels. So they absolutely MUST hold to their party-line that their gene screens are simply “recreational” genetics and NOT medical genetic tests, even though they now are reporting out some of the same information that CLIA certified Molecular Genetic testing labs report out (who are subject to layers of regulations to make sure that we, the consumers, are protected against lab errors and against the real dangers of clinical genetic testing being performed- and information being provided- without appropriate pre- and post- test genetic counseling and follow-up in place), so these DTC companies can thereby skirt the requirements for FDA regulation, and in NY, the NY State Civil Laws regarding Genetic Testing, or they would be out of business in short order and in-line for some serious legal troubles. Very interesting!

    I now think I have a better idea of the real reason that, just this very week, Linda Avey left 23andMe…

    The only PHYSICIANS whose training and certification is specifically geared in large part to ordering and interpreting genetic testing, of all varieties (be it karyotype, SNP CHIP or otherwise), and putting it in the appropriate clinical context are Board Certified Clinical Geneticists and the subspecialties of Medical Genetics. Anything else is an unregulated or insufficiently regulated crapshoot, so caveat emptor, and anyone venturing into this embryonic DTC genetic testing world, please do yourself a favor and make an appointment with a Clinical Geneticist, as if your life could depend on it.

  32. #32 srikrishna
    October 22, 2010

    Dear Sir,

    can i make the delivery with out FDA release.

    Regards,
    A.Srikrishna

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