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Beyond 23andMe’s Shutdown: The Role of the FDA in the Future of Direct-to-Consumer Genetic Testing

Kyle Edwards, Uehiro Centre for Practical Ethics and The Ethox Centre, University of Oxford

Caroline Huang, The Ethox Centre, University of Oxford

An article based on this blog post has now been published in the May – June 2014 Hastings Center Report: Please check out our more developed thoughts on this topic there!

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8 Comment on this post

  1. We’ll be hosting a complimentary webinar examining direct-to-consumer genetic testing, and discuss models for future tests, given the recent FDA activity. So as not to contribute to spam, send a followup if you want details.

    1. Please send information – thank you.

      We’ll be hosting a complimentary webinar examining direct-to-consumer genetic testing, and discuss models for future tests, given the recent FDA activity.

  2. 23andMe reported Warfrin sensitivity for me – this had earlier
    been diagnosed by another genetic test conducted by a different
    company in a different location. So for me, 23andMe seems
    to have provided accurate information in this respect.

  3. I agree, in general. I do not want to see this result in severe limitations placed upon 23andMe’s ability to market its DTC-GT product, as I think DTC testing does have the potential to provide valuable information to individuals and will drive (and facilitate through its genetic profile pooling efforts) further research into the complex connections between genotype and phenotype. That said, it is worth noting that certain aspects of 23andMe’s interpretation of genetic material are far from boasting “appreciable” clinical validity and utility. For example, 23andMe claims its analysis of bipolar disorder risk is based on “established research”, which implies far more to the consumer than it should. This “established research” consists of two articles that implicate two genes as risk factors. However, a recent meta-analysis of 487 articles ( shows that these two genes are not among the most popular contenders for BP genes, and furthermore, that there is a very little consensus regarding which genes confer risk for BP in the first place. There are likely to be many genes in play, each with a small overall effect on phenotype, and this does not take into account environmental influences and interactions (as you rightly note). This is all to suggest that aspects of 23andMe’s DTC-GT have essentially zero clinical validity and utility. 23andMe should be required to acknowledge this, or cease offering such interpretations. To be fair, I have not looked into the research that undergirds every risk assessment 23andMe offers, but given the state of its bipolar disorder research, I am concerned.

    Another small point, which is something that just occurred to me. I’d be interested in your responses. Some critics of the FDA’s actions claim that individuals have a right to their genetic information, and that the FDA has violated this right (you allude to this in your final sentence). But 23andMe has not stopped offering individuals their genetic information; they are still providing the raw genetic data to individuals who want it. But what consumers want, and what 23andMe offers, is an interpretation of individual genetic information. Do people have an unconditional right to the interpretation of their individual genetic information, just as some claim they have an unconditional right to their genetic information? It seems to me that the the FDA should have more latitude in regulating the interpretation.

    1. Hi Mike,

      Thanks for your interest in our post, and apologies for our delayed reply. To your first point, yes, we would agree that some of 23andMe’s claims overstate clinical validity and utility – particularly as early genetic studies are weighed against a greater number of studies, such as the meta-analysis you cited. Our main question concerning these claims is whether the consent process adequately explains the limitations of genetic testing and interpretation of results, given the ever-evolving and incomplete state of genetic research. Failing to inform consumers of this point would seem to constitute false advertising and thus be problematic. Moreover, what qualifies as “appreciable” may be consumer-dependent; even weak evidence on a little-studied potential genetic link might be acceptable to some consumers, while others might only consider high-powered evidence acceptable and will ignore anything short of this. The same spectrum of what is “appreciable” likely applies to other situations, such as whether it is acceptable to drink small amounts of alcohol while pregnant. Some women may take solace in a longitudinal cohort study suggesting that light drinking and childhood development problems are not associated, while others may prefer to err on the side of abstinence because the evidence does not definitively show whether light drinking causes problems.

      As to people’s rights regarding their genetic information, we think they should have the right to seek an interpretation of their genetic information, e.g. they have the right to use crowdsourced algorithms or DTC-GT companies, as well as the option to consult medical providers to discuss confusing or distressing results. They may not be entitled to subsequent genetic testing in a medical setting, however, as that would be in essence demanding certain medical treatment – though they may request it and clinicians may agree to provide what is appropriate.

  4. To Senator : Marco Rubio et all
    From : Rafael Mendoza, 6785 Bird Road, Miami, Fl 33155

    FDA, is violating my basic rights, my constitutional rights, FDA actions has prevent me from obtaining “simple information“, affecting me and my family. This civil rights violation is being done not only to me, but many other. It has to stop immediately.

    The FDA, actions, clearly stated in their letter of: Nov 22 Document Number: GEN1300666, Attached here, Is preventing me from receiving information on my property.

    I am a citizen of the United State of America, not of a banana republic, who’s government can and do control the free flow of information in its society. The FDA, thru convoluted statements, has made an outrageously stupid analysis, proper of metal pigmies, trying to justify that a specific Co. Is not able to sell and distribute information not approved by the government.
    FDA has conclude that the citizens of the USA are not able or capable to read and interpret by them self, information on a subject matter, but need the filter of the USA government to do so.
    If there stupid argument is not stopped, then it is perfectly applicable to banning books, or software’s, this action would establish precedent.
    Institution, like the FDA only creates a burden for the development of our nation, You can ask yourself, What would have happen to the Wright brother if these institution were around , trying to create a plane from a bicycle shop? , Katanga, would have invented the airplane.
    If these leeches of society, had any dignity, they would be concentrated for example in working toward a solution to what real matters, every day in the USA, hundreds of American are killed by hospital virus, but the FDA prefers to prosecute, make life difficult, to new Co. So it will not develop in our nation, this makes me vomit.
    This is a complete and utter violation of my constitutional rights, my civil rights, and as my Senator, I ask you, to intervene as soon as possible to stop such actions. To stop the FDA and other government agencies, from preventing me to access whatever information I so desire.
    Thank you, R. Mendoza

  5. When providing a testing system, one needs to put the test system through a validation procedure. In order to do this, one would normally take a group of subjects and compare the results of the system under test (23andMe system) with a ‘gold standard test system’, such as the quantitative polymerase chain reaction or direct sequencing of the genome. I would imagine that this has not been undertaken by 23andMe (for all gene sequences) due to the vast number of genes or gene alterations that are being tested. So technically, we have no idea as to the accuracy of the testing system provided by 23andMe.
    If this work was conducted within the UK, then the equivalent of the FDA, the MHRA, would not be able to close down the testing unless medical claims were being made, based on the results presented to the customer. It seem that this is also the situation with regard to the FDA, as 23andMe are still able to undertake testing as long as they do not state any clinical significance of these data.
    In order to make a clinical/medical claim regarding these data, it would be the responsibility of 23andMe to provide extensive literature on the association of a particular gene sequence with a clinical condition. With the number of genes analyzed, this would be a huge undertaking and may then place the analysis under the umbrella of medical device. In this respect, it would be the gene array test system that would become the medical device in that the results it generated, would now be used to diagnose and potentially treat an underlying medical condition.
    To expand a little on the above, if a person wanted the information that 23andMe provided to help diagnose an existing health condition, then one might suggest that the medical device category is indeed correct. The grey area would be where a person wanted to screen for genetic alteration, but they were in good health. The analysis is therefore not being used to diagnose a medical condition as no medical condition currently exists and may never manifest. In this circumstance, it would seem that the MHRA and I assume the FDA also, has no authority to shut down the analysis. The results that 23andMe are providing would then be used as an initial genetic screen, where confirmation would be made with fully validated and approved medical diagnostic systems.

    1. Hi Chris,

      Thanks for your interest in our post, and apologies for the delayed reply. We’d suggest that even in the case of a test purchased by a consumer intentionally for diagnostic purposes, the FDA and MHRA should only be able to regulate analytic validity because the raw test data still amounts to information. As in the case of a home pregnancy test, the information becomes medical once the consumer seeks a medical setting because of a DTC-GT result – generally in line with your idea of 23andMe providing “an initial genetic screen, where confirmation would be made with fully validated and approved medical diagnostic systems.”

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