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Today 23andMe <a href="https://www.23andme.com/about/press/fda_application/">announced</a> that we’ve submitted our first round of 510(k) documentation to the U.S. Food and Drug Administration (FDA). The application provides a detailed description of our Personal Genome Service ®, extensive data supporting the performance of our technology, and comprehensive discussions of the science supporting the information we present to customers about their genetics and its impact on health.
Not too long ago personal genomics was a new idea. Consumer personal genomics was even more novel &#8212; the idea that everyone, not just doctors and researchers or those with special health needs, could know what was in their DNA. What wasn’t new was the desire to improve our knowledge of what all that DNA means and for that knowledge to make a difference in people’s lives.
We started 23andMe six years ago with those goals in mind and since then more than 150,000 people have joined us to learn more about what&#8217;s in their bodies and to contribute to our innovative research platform. Already our growing research community has made discoveries in many diverse topics, including the photic sneeze reflex, male pattern baldness, and Parkinson’s disease.
As with anything new and potentially disruptive, there have also been concerns. The FDA responded to some of these concerns by indicating that direct-to-consumer genetic testing services require regulatory review to remain on the market. We remain strong in our belief that consumers have a fundamental right to their personal genetic data. We believe personal genetic data will power a revolution in healthcare. But we also recognize that appropriate oversight of this industry can be a stepping stone on the path to realizing that revolution.
For the last three years we have worked with FDA to apply their regulatory approach to direct-to-consumer genetic testing. It is important to us that a regulatory framework for genetic testing reflect the dynamic nature of genetic science and protect individual access. What we know about the genome changes every day. If we want our genetic information to be current, there needs to be a way for us to update that information quickly.
We are confident that our initial application to the FDA is complete and comprehensive. Being the first in the industry to announce we are actively working toward FDA clearance of our direct-to-consumer service demonstrates our commitment to make personal genetics an integral part of routine healthcare without sacrificing people’s right to access information about themselves. Our goal is to remain the world’s trusted source of genetic information &#8212; not just for people with a doctor’s order, but for everyone regardless of why or how they choose to learn about their DNA. DNA is fascinating, but it’s even more fascinating when it’s about you.

23andMe Blog

23andMe Blog Team

23andMe Takes First Step Toward FDA Clearance

In December a new study created quite a stir in the already-volatile clopidogrel research community. Clopidogrel (trade names Plavix ®) is a commonly prescribed anti-clotting drug. It is inactive in the body until a protein encoded by the gene CYP2C19 converts the drug to its active form. Some people are able to make this conversion more quickly and effectively than others, partially due to genetic mutations in the CYP2C19 gene. How this ability to process clopidogrel impacts a patient’s risk of heart attack and other cardiac events, however, is unclear. Are slow metabolizers (those who can not convert clopidogrel to the active form very well) at higher risk for cardiac events than fast metabolizers?
Many researchers and physicians, based upon the results of recent studies, believe that slow metabolizers of clopidogrel do, in fact, receive less protective benefit from the drug. The evidence for an association between CYP2C19 genotype and cardiac events was perceived to be so strong that, in March of 2010, the <a href="https://blog.23andme.com/articles/fda-adds-boxed-warning-to-plavix-label-to-highlight-reduced-effectiveness-of-the-drug-in-poor-metabolizers" target="_blank" rel="noopener noreferrer">FDA added a boxed warning</a> on the drug labeling for clopidogrel asserting that slow metabolizers of the drug may need “alternative treatments” to avoid heart attacks and other cardiovascular events. Others, however, are less convinced that being able to process clopidogrel quickly actually translates to improved protection against cardiac events. After the FDA released their boxed warning, the American College of Cardiology and the American Heart Association <a href="https://www.ncbi.nlm.nih.gov/pubmed/20585015" target="_blank" rel="noopener noreferrer">published a report</a> maintaining that routine genetic testing for CYP2C19 mutations for the purpose of clopidogrel dosing was not justified by the current research.
Last month Dr. Michael Holmes and a team of researchers from the University College London published a study in the Journal of the American Medical Association stating that although CYP2C19 genotypes affect how quickly one processes clopidogrel, it does not actually affect one’s risk of cardiovascular events. After analyzing results from 32 previously published studies relating clopidogrel and CYP2C19 genotype, they determined that there was likely no true association.

Of particular note to Holmes and his colleagues was the fact that the studies reporting the strongest associations between CYP2C19 metabolizer status and cardiovascular outcomes were also the smallest, perhaps reflecting the tendency for small research groups to publish only positive findings (publication bias). The type of study also seemed to matter &#8212; the preferred, but less common case-control studies were less likely to show an association than the treatment-only studies. The researchers concluded that there is likely no statistically significant association between CYP2C19 genotype and cardiovascular events, although they briefly concede that the specific complication of stent thrombosis might be a &#8220;possible exception.&#8221;
Some scientists, such as Dr. Steven Nissen, have applauded this new meta-analysis. In Dr. Nissen’s editorial “Pharmacogenomics and Clopidogrel: Irrational Exuberance?”, he calls the analysis results “compelling.” Other experts in the field, however, were less enthusiastic about the new study. Dr. Eric Topol, the director of Scripps Translational Science Institute, responded with a rebuttal in his blog, criticizing the study for failing to correctly account for type of treatment and for including patients for whom the benefit of clopidogrel is not well established.
Dr. Topol argues that clopidogrel is useful for preventing clotting in patients who have been treated with stents, and that this is one of the primary uses of the drug. Dr. Topol criticizes the authors for downplaying the association between CYP2C19 genotype and stent thrombosis and their failure to highlight the importance of CYP2C19 genotyping for stent-treated patients. In the study’s combined analysis, both stent-treated patients and patients treated by other means (for whom the benefit of clopidogrel is less established) were included. If clopidogrel does not significantly lower the risk of cardiac events in non-stent patients, then the non-stent patients included in the analysis would make it difficult to observe an association between genotype and cardiac events. Dr. Topol called the failure to control for treatment type a “critical flaw” in the analysis and asserted that the study was “remarkably misleading.”
Certainly, the last word in the clopidogrel debate has not yet been spoken. This study and the ongoing discussion, however, illustrate many of the challenging issues surrounding pharmacogenetic research. Publication bias, inadequate scientific controls, and the difficulty in translating genetic discoveries into clinical outcomes are all obstacles we will need to hurdle to realize the benefits of personalized medicine.

The Debate Over Clopidogrel Continues

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In March earlier this year, <a href="https://blog.23andme.com/articles/23andme-presents-at-fda-advisory-panel-meeting-on-direct-to-consumer-genetic-tests/" target="_blank" rel="noopener">23andMe presented its views</a> on possible federal regulation of the direct-to-consumer (DTC) genetic testing industry at an Advisory Committee meeting convened by the FDA. We reiterated our belief that individuals have a right to access their own genetic information without physician involvement, and suggested components of a regulatory framework that would ensure the high quality of that genetic information while maintaining direct-to-consumer access to personal genetic testing and enabling innovation.
Despite compelling arguments for DTC genetic testing the panel concluded that access to most types of health-related genetic tests should require a physician’s approval. At 23andMe, we encourage individuals to discuss their genetic test results with their health care providers and involve them fully in decision-making about their health. But we also contend that individuals should be allowed direct access to this information. We continue to work with FDA to develop a reasonable path forward.
In the months before and following the meeting, many of you responded to our call and submitted public comments to the FDA supporting as well as arguing against direct-to-consumer genetic testing. More open and honest debate about this issue can only be beneficial for the industry over the long run.
On September 22, 2011, Bay area citizens will have another chance to make their voices heard. FDA’s Center for Devices and Radiological Health (CDRH) will be holding the third of its 2011 public town hall discussions where individuals can present their views directly to senior CDRH officials, including the Center Director, the Deputy Director for Science, and the head of the Office of In Vitro Diagnostics, which regulates DTC genetic testing. The September town hall will be held at the Embassy Suites Hotel near the San Francisco international airport.
For more information about the town hall, see the official FDA announcement. Note that while anyone in attendance can ask questions during the Q&amp;A session, individuals must register and specifically request to speak if they would like to make comments during the public presentation period.
If you have strong opinions on whether individuals should have direct access to their genetic information, we encourage you to continue making your views known to FDA, whether through in-person meetings such as the town hall in September, or through letters and other correspondence. After all, we believe that having more information is a good thing!

FDA to Hold Public Town Hall Discussion in San Francisco

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On March 8th, the FDA convened a two-day advisory panel meeting to discuss questions related to direct-to-consumer genetic tests. The questions focused on the benefits and risks of providing consumers with direct access to these tests, potential strategies for communication and education to mitigate any risks, and regulatory standards for ensuring that the tests are accurate and reliable. As one of the leading companies in this area, we felt it was important to outline our perspectives and broad requests on these topics, and were pleased to see many other companies from the industry join us in expressing similar views. Updated meeting materials are now available  on the FDA website, and both presentations that 23andMe gave at this meeting are available <a href="https://blog.23andme.com/articles/23andme-presents-at-fda-advisory-panel-meeting-on-direct-to-consumer-genetic-tests/" target="_blank" rel="noopener">here</a>.
In the several years since the direct-to-consumer genetic testing industry made its debut, it has seen all manner of reaction. Many are fascinated by our newfound ability to peek into our genomes, to add another source of data to the ones we already collect, and to leverage it to know more about our connections to the world, whether that be literally through known and predicted relatives or through the relationship between genetics and our health and traits. Others may not be interested or may not want to know what their genetics might tell them.  But some feel that all genetic tests and/or their interpretations should be available only through a physician.
For our part, 23andMe was founded on the belief that individuals have a right to access their own genetic information, and this conviction is still as firmly held as ever.
While the debate is clearly no longer academic &#8212; many more people are aware of and using these tests and the FDA is taking an active role in learning about and devising guidelines for this industry as a result &#8212; it is clear that challenges remain. Some observers fear that the panel’s recommendations will severely curtail direct access to genetic testing, but we agree with <a href="http://www.genomicslawreport.com/index.php/2011/03/11/the-fda-and-dtc-genetic-testing-setting-the-record-straight/" target="_blank" rel="noopener">Dan Vorhaus</a> of Genomics Law Report that the FDA will take a reasoned approach to integrating the feedback it received from its panel with other information pertinent to the issue.
The advisory panel meeting was in many ways a microcosm of the ongoing debate, with one exception. Although the panel had an individual representing the consumer and the patient, the panel did not have the opportunity to hear directly from consumers and others who have first-hand experience with the information provided by direct-access genetic testing services.
Fortunately, there are many channels through which you can make your voices heard. The FDA has reopened the public docket on this topic for the submission of additional comments (until May 2, 2011) and we strongly encourage those of you with an opinion or perspective on the questions posed by the FDA regarding DTC genetic tests to send in a comment. Regardless of the content of those comments, we believe that a larger number and a wider variety of comments will be beneficial for helping the FDA to guide its regulatory policies in this area.
<ul>
<li>Electronic comments can be submitted at <a href="http://www.regulations.gov/" target="_blank" rel="noopener">http://www.regulations.gov/</a>, referencing docket ID FDA-2011-N-0066.</li>
<li>Written comments, referencing docket ID FDA-2011-N-0066 in the header, can be sent to: 
Division of Dockets Management (HFA-305) 
Food and Drug Administration 
5630 Fishers Lane, Rm 1061 
Rockville, MD 20852</li>
</ul>
You can also post comments to the <a href="https://www.facebook.com/FDA" target="_blank" rel="noopener">FDA Facebook page</a>, or attend one of several FDA (Center for Devices and Radiological Health, or CDRH) town hall meetings. The next town hall meeting will be held in May in Orlando, FL, and there is also one planned for San Francisco at a place and time to be announced.
Finally, it may be helpful to make your congressional representatives aware of your views on this issue. You may contact members of the <a href="https://en.wikipedia.org/wiki/United_States_House_Committee_on_Energy_and_Commerce" target="_blank" rel="noopener">House Committee on Energy and Commerce</a>, or find contact information online for your own House representative or <a href="http://www.senate.gov/general/contact_information/senators_cfm.cfm" target="_blank" rel="noopener">Senator</a>.

DTC Genetic Tests and the Future of Regulation: Make Your Voices Heard

Editor&#8217;s note: This post has been altered from the original. The slides from the presentation have been removed.
23andMe, like many others, believes that individuals have a right to access their own genetic information and that personal genetics will pave the way for significant advances in healthcare. These beliefs fueled the development of our direct access <a href="https://www.23andme.com/howitworks/" target="_blank" rel="noopener">Personal Genome Service</a> ® &nbsp;and <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">23andWe</a>, our web-based, participant-driven research platform. As for any other new industry
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or technology, however, there are concerns about the validity, accuracy, and applicability of the services and information that companies in the direct-to-consumer genetic testing industry provide. 23andMe supports thoughtful regulation that ensures consumers receive high quality information and enables, rather than inhibits, innovation.
Over the next two days, the FDA is hosting an Advisory Panel Meeting to address a number of questions related to clinical genetic tests that are marketed and provided directly to consumers. The FDA will be hearing the ideas and perspectives primarily of the Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee, which include voting members and temporary members added for this meeting. In addition, the FDA has invited several speakers to present background information and their views on this topic, and has provided for one hour each day for public comment.
It is during the public comment period that 23andMe will be giving two presentations. This afternoon, 23andMe’s General Counsel Ashley Gould will speak about our position on the subject matter the panel will be addressing as well as our broad requests for the panel’s consideration. 23andMe’s Senior Director of Regulatory Affairs &amp; Quality Assurance, Rose Romeo, will present tomorrow afternoon on considerations for risk mitigation and thoughts on regulatory frameworks moving forward. Slides from both of their presentations can be viewed below. The agenda and other background material are available at the FDA website, including <a href="http://www.regulations.gov/#!docketDetail;dct=PS+N;rpp=10;po=0;D=FDA-2011-N-0066" target="_blank" rel="noopener">public comments</a>.
Much of the complexity in discussing regulation of genetic testing stems from the brisk evolution of technologies in this area. The first draft sequence of the human genome was first published only 10 years ago, and companies are now sequencing full genomes on demand at increasingly affordable prices. In our presentations, we take the position that all genetic testing services, whether ordered by a physician or offered through direct access, should adhere to the same standards. We simultaneously request that the FDA consider redefining and establishing regulatory standards, including some fundamental definitions, to accommodate large-scale genetic testing and support innovation of its technologies and applications. We also request that regulation be based upon evidence and not fear of potential harm to individuals which, to date, has not been demonstrated. In fact, growing numbers of participating individuals and independent studies focused on this issue provide preliminary evidence that the vast majority of people understand the information presented and experience no significant negative effects.
23andMe has been proactively collaborating with the FDA and remains committed to finding a path forward that benefits everyone. The addition of Rose Romeo to our team, who has extensive regulatory experience and is eager to help us forge that path, attests to the strength of that commitment. We look forward to working together with a wide variety of agencies, organizations, and the medical community at large to establish the regulatory and functional frameworks that will ensure consumers and healthcare professionals have access to genetic information that is clear, useful, and engaging.

23andMe Presents at FDA Advisory Panel

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Warfarin (Coumadin ®) is a blood thinner given to people at high risk for the formation of blood clots due to conditions such as deep vein thrombosis, heart valve disease or replacement, and irregular heart beat. The drug is also given to prevent recurrence of pulmonary embolism, heart attack and stroke.
If too little warfarin is prescribed, the threat of blood clots will remain. But if too much drug is given, uncontrolled bleeding can result. Add to this the fact that &#8220;too little&#8221; and &#8220;too much&#8221; can vary significantly between people, and it&#8217;s no wonder that complications from incorrect warfarin dosing are <a href="http://jama.ama-assn.org/cgi/content/full/296/15/1858" target="_blank" rel="noopener">one of the most common reasons for emergency room visits</a> due to adverse drug reactions.
In 2007, the FDA updated the labeling information for warfarin to include information about how variations in two genes, CYP2C9 and VKORC1, can impact a patient&#8217;s optimal dose of the drug. &nbsp; But the FDA did not make specific dosing recommendations at that time.
Now the FDA has <a href="http://www.accessdata.fda.gov/scripts/cder/drugsatfda/index.cfm?fuseaction=Search.Label_ApprovalHistory#apphist" target="_blank" rel="noopener">updated warfarin&#8217;s label </a>once again, this time specifically saying that a &#8220;patient&#8217;s CYP2C9 and VKORC1 genotype information, when available, can assist in selection of the starting dose.&#8221; &nbsp; The agency also provides initial dosage recommendations for patients with different variant combinations. &nbsp; The FDA does not, however, require that genetic testing be done before prescribing warfarin.
The warfarin label lists non-genetic factors that can impact warfarin dosing, including age, race, body weight, sex, other medications and other medical problems. &nbsp; These factors are accounted for in the dosing recommendations given in the label.
The Centers for Medicare and Medicaid Services, the federal agency that makes decisions about what Medicare, Medicaid and the Children&#8217;s Health Insurance Program will cover, <a href="http://www.cms.hhs.gov/mcd/viewdecisionmemo.asp?from2=viewdecisionmemo.asp&amp;id=224&amp;" target="_blank" rel="noopener">decided last year</a> that there was not sufficient evidence to justify covering genetic testing before warfarin administration for Medicare beneficiaries. &nbsp; They did say, however, that they would pay for testing in patients who are part of clinical studies aimed at gathering more data on how outcomes are influenced by the availability of genetic information.
Many physicians are still not comfortable incorporating genetics into their prescription decisions. &nbsp; The <a href="http://www.genomeweb.com/dxpgx/fda-updates-warfarin-labeling-pgx-guided-dosing-ranges?utm_source=feedburner&amp;utm_medium=feed&amp;utm_campaign=Feed%3A+genomeweb+%28GenomeWeb+%C3%9Cberfeed%29" target="_blank" rel="noopener">Pharmacogenomics Reporter </a>quoted Janet Woodcock, director of the FDA&#8217;s Center for Drug Evaluation and Research, as saying, &#8220;Doctors tell us all the time, don&#8217;t tell us about VKORC1, just tell us what the right dose is for patients,&#8221; at a recent conference.
The American Medical Association has produced a booklet to help doctors understand the science behind genetics and warfarin dosing.
23andMe Health Edition and Complete Edition customers can view their data for the genetic variations in CYP2C9 and VKORC1 considered in the FDA labeling update in the Warfarin (Coumadin ®) Sensitivity Drug Response Report.
A downloadable PDF version of the Warfarin Sensitivity report is available to help customers share their results with their doctors.
Only a physician can determine whether warfarin is the right medication for a particular patient and at what dosage it should be given. &nbsp; The information contained in 23andMe Drug Response reports should not be used to independently establish a drug regimen or abolish or adjust an existing course of treatment.
The Blog previously reported on <a href="https://blog.23andme.com/articles/new-study-shows-that-genetic-information-can-improve-administration-of-commonly-used-blood-thinner" target="_blank" rel="noopener">one of the studies</a> that contributed to the FDA&#8217;s new labeling decision.

FDA — Page 3

23andMe Takes First Step Toward FDA Clearance

The Debate Over Clopidogrel Continues

FDA to Hold Public Town Hall Discussion in San Francisco

DTC Genetic Tests and the Future of Regulation: Make Your Voices Heard

23andMe Presents at FDA Advisory Panel

FDA Updates Label for Commonly Used Blood Thinner to Include Dosing Recommendations Based on Genetics

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