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<td><img loading="lazy" decoding="async" class="alignright size-medium wp-image-8845" style="padding-bottom: 15px;" title="PASD-2011" src="https://blog-api.23andme.com/wp-content/uploads/2011/04/PASD-2011-300x39.png" alt="" width="300" height="39" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/04/PASD-2011-300x39.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/04/PASD-2011.png 407w" sizes="auto, (max-width: 300px) 100vw, 300px" /></td>
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It’s easy to talk the talk for disease awareness, but now you can walk the walk &#8212; literally!
On April 16th, the Parkinson’s Association of San Diego (PASD) and the Parkinson’s Unity Walk (PUW) will be hosting two different walks on either side of the country. The goals of each walk are the same: to raise awareness and funding for Parkinson’s, a disease that affects approximately one million people in the United States. 23andMe shares similar goals and is proud to be participating in both events to promote our <a href="https://www.23andme.com/pd" target="_blank" rel="noopener noreferrer">Parkinson’s research community</a>.
In San Diego, the PASD is holding a 5K “Walk and Fun Run” at Liberty Park in Point Loma. They anticipate 2,000 walkers this year, 500 of which have Parkinson’s disease (PD). This year’s walk will also feature a new program called “Paws for Parkinson’s” to highlight the importance of service dogs in the lives of people with Parkinson’s disease. For more information about this walk, visit the walk website.
Across the country on the East Coast, the Parkinson’s Unity Walk will be held in New York City’s Central Park. This event, now in its 16th year, is coordinated between seven different Parkinson’s organizations. Last year, the Unity Walk drew approximately 10,000 people and raised $1.5 million for PD research! For more information about the Unity Walk, visit their <a href="http://www.unitywalk.org/about.php" target="_blank" rel="noopener noreferrer">website</a>.
23andMe will be hosting booths at both walks to give out bookmarks and other goodies, to discuss our service and research efforts, and to enroll people with PD into our Parkinson’s research community.  23andMe testing kits will be available on-site, but if you’re not quite ready to get or use a kit,  there will also be discount cards you can take home to apply towards a kit online.
Whether you’re already a participant in our Parkinson’s community or not, we’d love to see you at one of the walks! You can tell us your story (we’ll be taking some video and photos), take home some free stuff, learn more about what we do, or just stop by to show your support.
To get a flavor of what these walks and 23andMe’s research efforts are all about, check out <a href="http://www.unitywalk.org/videoplay.php?vidid=2%20Interviews%201.mp4">this video on the Unity Walk website</a> (23andMe featured starting at minute 3:50).
April is Parkinson’s Disease Awareness Month! Learn more about this disease and how you can get involved.

23andMe Blog

23andMe Blog Team

Take a Hike… for Parkinson’s Awareness

<img decoding="async" class="alignright size-full wp-image-273" title="alzheimers" src="https://blog-api.23andme.com/wp-content/uploads/2008/06/alzheimers.jpg" alt="" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/06/alzheimers.jpg 338w, https://blogcms.23andme.com/wp-content/uploads/2008/06/alzheimers-300x186.jpg 300w" sizes="(max-width: 338px) 100vw, 338px" />
Results published this week in the journal <a href="https://www.nature.com/ng/index.html" target="_blank" rel="noopener">Nature Genetics</a> identified five more genes associated with risk of developing Alzheimer’s, doubling the total number of genes known to be linked to the devastating disease. The two studies – <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.803.html" target="_blank" rel="noopener">one led by Paul Hollingworth and Julie Williams</a> in Europe and the <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.801.html" target="_blank" rel="noopener">other by the Alzheimer’s Disease Genetics Consortium</a> in the U.S. – analyzed DNA from more than 50,000 people of European ancestry. Altogether, the researchers identified five new genetic variants located near the ABCA7, MS4A4A, EPHA1, CD33, and CD2AP genes, which are each associated with a 10-15% increase or decrease in the odds of Alzheimer&#8217;s.
While the effects of these genetic variants may not be strong, their discovery offers additional clues about the biological underpinnings of the disease. Combined with previous studies (see Blog posts <a href="https://blog.23andme.com/articles/snpwatch-large-study-identifies-two-more-genetic-variants-associated-with-alzheimers-disease/" target="_blank" rel="noopener">here</a> and  <a href="https://blog.23andme.com/articles/snpwatch-largest-alzheimers-genetic-studies-to-date-identify-three-new-susceptibility-genes/" target="_blank" rel="noopener">here</a>), the genes implicated suggest that biological pathways involved in the immune system and in the transport of cholesterol-related molecules may be important in the development of the disease.
As reported in the <a href="https://www.nytimes.com/2011/04/04/health/04alzheimer.html?_r=1" target="_blank" rel="noopener">New York Times</a> on Sunday, one of the new studies&#8217; authors, Dr. Richard Mayeux, said the findings would help “open up the field.”
Although the studies published this week help fill in some gaps in our understanding of <a href="https://www.23andme.com/topics/health-predispositions/late-onset-alzheimers/">gene testing for Alzheimer’s</a>, the risks associated with the newly identified variants are still dwarfed by the risk associated with the well-established e4 variant of the APOE gene.
If a person inherits the APOE e4 variant from one parent, his or her risk is two to four times higher than the average person&#8217;s. If that person inherits it from both parents the risk rises to more than 10 times greater than average. But as with all complex, multi-factorial conditions such as Alzheimer&#8217;s, the presence of a variant does not mean a person will definitely develop the disease.
Currently more than <a href="http://www.alz.org/alzheimers_disease_facts_and_figures.asp" target="_blank" rel="noopener">5.4 million</a> Americans have Alzheimer’s. The Alzheimer’s Association estimates that this year alone the cost of the disease will top $183 billion.

Studies Identify Five More Genetic Variants Associated with Alzheimer’s

<img decoding="async" class="alignright size-medium wp-image-8732" title="DNA-chains" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="300" />
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

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-8774" title="cell-culture_petri-dish" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Parkinson&#8217;s disease (PD) is a relatively rare but devastating condition affecting 1-2% of Americans. Although some risk factors are known &#8212; including genetic variants that predispose to the condition &#8212; its exact causes and mechanisms remain a mystery, and development of treatments has been slow.
<h2>Parkinson&#8217;s Research Community</h2>
23andMe chose to focus on <a href="https://www.23andme.com/pd" target="_blank" rel="noopener noreferrer">Parkinson&#8217;s disease</a> for our first disease research community and we&#8217;ve made great strides in the two years since it launched. Our Parkinson&#8217;s research initiative was also featured in a Wired article last summer called &#8220;Sergey&#8217;s Search,&#8221; referring to Google co-founder Sergey Brin.
Sergey&#8217;s mother, Genia Brin, suffers from Parkinson&#8217;s disease and learned from 23andMe that she carries two copies of the Parkinson&#8217;s-associated LRRK2 G2019S genetic variant. Sergey carries one copy of the variant. The knowledge has prompted them to take a more active role in research, including a breakthrough study published this month in <a href="http://www.cell.com/cell-stem-cell/abstract/S1934-5909(11)00014-2" target="_blank" rel="noopener noreferrer">Cell: Stem Cell</a> in which Genia Brin played a crucial part.
<h2>Skin Cells</h2>
With skin cells from Brin, scientists led by Renee Reijo Pera at Stanford University and William Langston at the nearby Parkinson&#8217;s Institute were able to generate the first human Parkinson&#8217;s cell line that exhibits features of the disease in the petri dish. They  first turned the skin cells into a type of stem cell (induced pluripotent stem cells, or iPSCs) and then transformed those stem cells into dopaminergic neurons, the same kind of neurons affected in people with PD.
Incredibly, these derived neurons quickly started showing signs indicative of Parkinson&#8217;s in the lab, including the accumulation of certain telltale proteins.  The scientists believe that the stress of being in a petri dish for several months induced the neurons to behave more like neurons exposed to decades of environmental stress. They also observed that the neurons were more susceptible to hydrogen peroxide damage compared to other cell types.
<h2>PD Cell Line</h2>
Their findings represent a major step forward for PD research. The researchers can conduct further experiments on the new PD cell line to see what other factors contribute to PD-like symptoms and whether specific interventions have beneficial effects. Their observation that the PD neurons are especially sensitive to harmful reactive chemicals like hydrogen peroxide is also an important jumping off point for investigating potential treatments.
Genia Brin herself was impressed with what the scientists were able to accomplish with her cells.
&#8220;It is a bad disease and its biological basis is little understood. Research has been pretty slow,&#8221; she said in statements to the <a href="http://www.mercurynews.com/science/ci_17708879?nclick_check=1" target="_blank" rel="noopener noreferrer">San Jose Mercury News</a>. &#8220;I was hoping they would learn something from it, and they did. &#8230; Now they can experiment with [my cells].&#8221;
Read more about the study in the <a href="http://www.mercurynews.com/science/ci_17708879" target="_blank" rel="noopener noreferrer">San Jose Mercury News</a> and <a href="http://www.sciencedaily.com/releases/2011/03/110303132308.htm" target="_blank" rel="noopener noreferrer">ScienceDaily</a>.
Did you know? April is Parkinson&#8217;s Disease Awareness Month. Check the Blog for more articles on Parkinson&#8217;s Disease over the next few weeks, and learn more about how you can get involved!

Breakthrough with Parkinson’s in a Petri Dish

<img loading="lazy" decoding="async" class="alignright size-full wp-image-8691" style="padding-right: 15px;" title="lady_at_computer" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/lady_at_computer.png" alt="" width="130" height="165" /><img loading="lazy" decoding="async" class="alignright size-full wp-image-8692" style="margin-bottom: 35px;" title="lightbulb" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/lightbulb.png" alt="" width="150" height="124" />
At 23andMe, we are committed to advancing understanding of human health and disease, and to giving everyone an opportunity to participate in scientific research that is meaningful for them. We launched our first research community focused on Parkinson&#8217;s disease in 2009 with those goals in mind. Less than two years later, we&#8217;ve already made amazing progress, having enrolled nearly 5,000 people with Parkinson&#8217;s (including one of the world&#8217;s largest databases of rare LRRK2 carriers) and gathered 40,000 data points about their experiences with the disease. With this initial data set, we&#8217;ve not only replicated existing genetic associations with Parkinson&#8217;s, but have also discovered two novel genetic markers associated with the condition which may further our understanding of the causes and point to potential avenues for treatment.
One of the most encouraging aspects of this community-based effort is the speed with which we&#8217;ve been able to grow the community and make these discoveries. Traditional disease cohort recruitment and data collection is time-consuming, and sometimes decades can pass after the first study participant is enrolled until findings are published. Our unique web-based research platform significantly accelerates this timeline, and we have already submitted a manuscript for peer review describing our first findings.
To learn more about 23andMe&#8217;s research efforts, visit our <a href="https://www.23andme.com/pd" target="_blank" rel="noopener noreferrer">Parkinson&#8217;s</a>, <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">Sarcoma</a>, and <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">23andWe</a> research pages.

An Update On Our Parkinson’s Research Community

<img loading="lazy" decoding="async" class="alignright wp-image-8653 size-medium" title="kidneys" src="http://35.88.189.111/wp-content/uploads/2011/03/a-300x223.jpg" alt="" width="300" height="223" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/a-300x223.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/03/a.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This month, take a few minutes to appreciate your kidneys. These workhorses filter wastes, toxins and excess fluids from the blood, regulate the balance of ions and other chemicals in your body, and release hormones important for blood production, blood pressure regulation, and calcium balance.
Given all that they have to do, it&#8217;s no surprise that damage to the kidneys can cause serious problems. Sudden damage can result in acute kidney failure but more commonly the damage accumulates over time and leads to a gradual decrease in the kidneys&#8217; ability to do their many jobs. This type of damage is known as chronic kidney disease, and the later stages can cause complications such as heart disease, anemia, and nerve damage. End-stage kidney disease is defined by kidney failure and requires either lifelong dialysis &#8212; where a person&#8217;s blood is pumped through a machine that acts like an artificial kidney &#8212; or a kidney transplant.
During this month, 23andMe will be adding new reports and associations on <a href="https://www.23andme.com/topics/carrier/polycystic-kidney-disease/">kidney disease</a> to help our customers become better informed about these conditions. This week, we released a new Established Research report on Chronic Kidney Disease and updated our Preliminary Research report on Kidney Disease to include more preliminary findings for chronic kidney disease as well as new findings for a less common kidney condition known as idiopathic membranous nephropathy. In the coming weeks, also look for an update to our report on Type 2 Diabetes (a major cause of kidney disease) and a new report on kidney stones.
Fortunately, many of the things that keep kidneys healthy are things that keep the rest of you healthy as well. These things include maintaining healthy blood pressure and blood sugar levels, being physically active, limiting sodium intake, and eating a healthy diet high in fruits, vegetables, and whole grains. If you have high blood pressure or diabetes, you should also talk to your doctor about getting screened regularly, as these conditions increase your risk for kidney disease.
Check out these resources for learning more about your kidneys and kidney disease:
<ul>
<li>National Kidney Disease Education Program &#8211; <a href="http://www.nkdep.nih.gov/kidneymonth/" target="_blank" rel="noopener noreferrer">10 things you can do to protect your kidneys</a></li>
<li><a href="https://www.facebook.com/KidneyDiseaseAwareness" target="_blank" rel="noopener noreferrer">Kidney Disease Awareness</a> on Facebook</li>
<li>National Kidney Foundation &#8211; <a href="http://www.kidney.org/kidneydisease/ckd/index.cfm" target="_blank" rel="noopener noreferrer">Chronic kidney disease</a></li>
</ul>

March is Kidney Awareness Month!

by Mike Macpherson, Shirley Wu, and Joanna Mountain
<img loading="lazy" decoding="async" class="alignright wp-image-8628 size-medium" title="Hadza-hunter" src="http://35.88.189.111/wp-content/uploads/2011/03/Hadza-hunter-300x200.jpg" alt="A photo of a smiling young Hadza hunter girl." width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter.jpg 424w" sizes="auto, (max-width: 300px) 100vw, 300px" />A young Hadza hunter
From just flecks of bone and specks of DNA, scientists have been able to piece together a story of the origin of our species.
<h2>Out of East Africa?</h2>
That story, by most accounts, begins in eastern Africa 100-200,000 years ago. After all, multiple lines of evidence point to eastern Africa &#8212; it’s where the oldest recognizable human bones have been found, where the linguistic diversity is richest, and it fits the available genetic data.
However, in this week’s issue of PNAS, researchers, including those from Stanford, UCSF, and 23andMe, present much more extensive genetic evidence suggesting that humans may have originated not in eastern but in southern Africa.
<h2>Using DNA</h2>
How can genetics tell you where a species originated? A general principle is that you tend to find the highest levels of genetic variation in the portion of the population that’s been around the longest. That’s because sub-populations that split off from an original population start out with just a sample of the original population’s gene pool, and it takes a very long time for new genetic variation to build up in the new sub-population.
Using this principle, one strategy for identifying a species&#8217; origin is to measure genetic variation in several places where the species lives and look for the place where the genetic variation is highest.
For this study, the authors gathered new genome-wide data from three click-speaking peoples from southern Africa living for millennia in relative isolation and seven northern African peoples. They also assembled existing genome-wide data from 14 further African populations, covering eastern, western, and central Africa, resulting in a continent-wide representation of genetic variation.
<h2>Different Theories</h2>
With this much coverage, the researchers would have been in a position to find evidence for human origins in any part of Africa; eastern Africa would be the front-runner, but researchers have argued that northern, central, and southern Africa are also plausible candidates.
However, they found that among all the populations they looked at, the highest levels of genetic variation were found in southern Africa. This suggests, the authors conclude that each of us may trace our ancestry (ignoring any contributions from Neandertals for now!) back to southern Africa, sometimes less than 100,000 years ago.
Although this new genetic evidence is intriguing, it’s not the end of the story. There’s some archaeological evidence to support a southern African origin, but for now, it’s fairly limited. These new data are also consistent with a scenario where humankind arose in eastern Africa but later migrated to southern Africa. Studies sampling genetic diversity in further African populations may help clarify the early history of our species.
<img loading="lazy" decoding="async" class="alignright wp-image-6513 size-medium" title="joanna_africa4" src="http://35.88.189.111/wp-content/uploads/2010/05/joanna_africa4-300x207.jpg" alt="" width="300" height="207" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/joanna_africa4-300x207.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/joanna_africa4.jpg 357w" sizes="auto, (max-width: 300px) 100vw, 300px" />Dr. Mountain in Africa during her time in the Peace Corps
<h2>Using GWAS</h2>
The insights of this study were enabled by genome-wide genetic data of the sort that 23andMe generates. In fact, they used exactly the kind of data that 23andMe generates; the southern African Sandawe, Hadza, and Khomani individuals were all genotyped on our 580,000-SNP v2 platform, just like many of our customers.
23andMe was proud to participate in this study, which was actually launched almost 15 years ago by 23andMe’s Senior Director of Research, Joanna Mountain. Dr. Mountain collected samples for the Hadza in Tanzania and initiated the recent sample collection in South Africa.
We are also proud to note that the study’s lead and second authors, Brenna Henn, and Christopher Gignoux, are former members of Team 23andMe. Brenna and Chris made many contributions to 23andMe’s product, most visibly to the Maternal and Paternal Line features.

Location, Location, Location: Did Humans Start Out in Southern Africa?

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
<img decoding="async" class="alignright size-full wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w" sizes="(max-width: 350px) 100vw, 350px" />
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

<img loading="lazy" decoding="async" class="alignright size-full wp-image-8588" title="KingsSpeech" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/MV5BMzU5MjEwMTg2Nl5BMl5BanBnXkFtZTcwNzM3MTYxNA@@._V1._SY317_CR10214317_.jpg" alt="" width="214" height="317" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/MV5BMzU5MjEwMTg2Nl5BMl5BanBnXkFtZTcwNzM3MTYxNA@@._V1._SY317_CR10214317_.jpg 214w, https://blogcms.23andme.com/wp-content/uploads/2011/03/MV5BMzU5MjEwMTg2Nl5BMl5BanBnXkFtZTcwNzM3MTYxNA@@._V1._SY317_CR10214317_-203x300.jpg 203w" sizes="auto, (max-width: 214px) 100vw, 214px" />
Many films have portrayed characters who stutter, but stuttering itself has rarely been the subject of a popular movie. That all changed with <a href="http://www.kingsspeech.com/" target="_blank" rel="noopener">The King’s Speech</a>, which made headlines last weekend at the 83rd annual Academy Awards and swept four of the most coveted award categories (Best Picture, Best Director, Best Screenplay, and Best Actor). This film tells the true story of King George VI, a man struggling with a stutter who suddenly finds himself thrust onto the global stage when his father dies and his brother abdicates the throne. With the help of an unconventional speech therapist, George VI gains the confidence and vocal control needed to inspire an entire empire about to enter the second World War.
The King’s Speech brings attention to one of the most common speech disorders. Stuttering &#8212; repetition of or difficulty starting words, syllables, or phrases &#8212; affects up to 5% of children, and although most cases resolve within a few years, it continues to affect about 1% of adults. If you stutter, you’re in good company: in addition to King George VI, <a href="http://www.stutteringhelp.org/Default.aspx?tabid=128" target="_blank" rel="noopener">famous and accomplished stutterers</a> include Winston Churchill, business executive Jack Welch, Vice President Joe Biden, composer Andrew Lloyd Webber, Marilyn Monroe, James Earl Jones, Nicole Kidman, NFL runningback Adrian Peterson, author Lewis Carroll, and Charles Darwin, to name only a few.
Although researchers don’t always know the exact causes of stuttering, there are a number of factors known to be involved. Some cases of stuttering can be attributed to language development &#8212; when a child’s vocal abilities can’t keep up with what they want to say &#8212; or disruptions in signaling between the brain and speaking organs, as might be caused by a brain injury. But stuttering is also much more common in boys, and tends to run in families, suggesting genetics plays an important role.
Last year, a study published in the <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa0902630" target="_blank" rel="noopener">New England Journal of Medicine</a> identified for the first time specific genetic variants associated with stuttering. By analyzing DNA from a large Pakistani family, the researchers found a variant in the gene GNPTAB that was present in 25 out of 28 stutterers in that family. When they looked at this variant in other unrelated Pakistani stutterers and non-stutterers, they found it was present in about 10% of the stutterers but only about 1% of the non-stutterers. A <a href="https://www.nature.com/jhg/journal/v56/n1/full/jhg2010125a.html" target="_blank" rel="noopener">follow-up study</a> of this variant revealed that it likely arose from a single mutation event in an individual who lived about 570 generations ago.
Additional analysis in a larger sample of individuals of mainly European ancestry identified other, rarer mutations that may be associated with stuttering in GNPTAB as well as the GNPTG and NAGPA genes, which are closely related to GNPTAB in function. Certain mutations in the GNPTAB and GNPTG genes cause mucolipidosis, a rare, recessively-inherited disorder that affects many major organs and the motor and skeletal systems. Mucolipidosis is also often characterized by developmental problems and speech deficits, providing a link as to why other variants in these genes may predispose to stuttering and pointing to specific biological pathways that may be involved in common speech disorders.
&#8220;The King&#8217;s Speech has truly given a voice to the voiceless, hope to those who had none, and courage to those who struggle daily to be heard,&#8221; said <a href="http://www.stutteringhelp.org/Default.aspx?tabid=4" target="_blank" rel="noopener">Stuttering Foundation</a> President Jane Fraser in a <a href="http://www.stutteringhelp.org/default.aspx?tabindex=855&amp;tabid=868" target="_blank" rel="noopener">press release</a>. With the latest spotlight from the success of The King’s Speech, many hope that even more progress will be made towards awareness of stuttering and research into understanding its causes, both genetic and non-genetic.

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