By Arnab Chowdry, Senior Scientific Software Engineer at 23andMe
Having been young and healthy for the majority of my life, I haven’t had many opportunities to interact with our health care system.   Not too long ago I was a sedentary, slightly-overweight, South Asian man entering my thirties.  I had some ambiguous family history of diabetes but, like everyone I know, I felt that the less I saw my doctor, the better.  Most importantly, by medical standards, I had no reason to consider myself predisposed to heart disease.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-10962" title="Arnab1" src="https://blog-api.23andme.com/wp-content/uploads/2012/01/Arnab1-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/01/Arnab1-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Arnab1-768x511.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Arnab1-1024x681.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Arnab1-880x585.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/01/Arnab1-1180x785.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Then, not long ago, my 23andMe data and a paper in Nature Genetics changed my story.  Ironically, I work for 23andMe as a scientist and engineer; I analyze genetic data for a living, but until then my work had been abstract.  I knew we were helping people but never expected any particularly life-altering information to come out of my personal genetics.
It turns out that I carry a mutation in the MYBPC3 gene that is associated with familial hypertrophic cardiomyopathy (HCM). South Asians that carry this mutation are at greatly increased risk for HCM.   Well that’s strange&#8211;if I’m a carrier, then one of my parents has to be a carrier, and one of their parents (and so on).  But if it is such a significant modifier of risk, shouldn’t I have heard of HCM running in my family, before?
With some research, I learned that HCM is not commonly screened for, in the United States or India, but is a leading cause of sudden cardiac death in <a title="“Dying to Play”" href="https://www.slate.com/articles/health_and_science/medical_examiner/2009/02/dying_to_play.html" target="_blank" rel="noopener noreferrer">athletes</a>.  So it’s reasonable that I may not have heard of HCM in my family, because it may never have been diagnosed.  But I called my mother anyway and started asking questions: do we have any heart disease in our family?
I was surprised to learn that the answer was an emphatic: yes.  Though we had never discussed it, my mother was similarly surprised that I didn’t know that the majority of deaths in my family were related to heart disease.  My grandmother, who I thought had died of diabetes, actually suffered from angina and died of heart failure.  My grandfather on my father’s side had early-onset heart attacks and died from a blood clot.  Their brothers and sisters?  Cardiac arrest.  I even had a middle-aged cousin I never met who died the month before due to sudden cardiac death.  And all this time, at the doctor’s office, I never checked any box related to heart disease in my family history.  This information wasn’t recorded, anywhere, except the notepad I was using.
Given the surprising prevalence of heart issues on both sides of my family, it was hard to pin down which of my parents was likely to carry my mutation, so I got them both genotyped by 23andMe.  From there, it was easy to determine that the mutation came from my father’s side, which had more of the early-onset heart attacks.  I explained the research paper and its caveats to him and told him to talk to his doctor, then hung up the phone and realized: “Wait, shouldn’t I talk to my doctor?”
How do I even bring it up?  I’m a member of an HMO (Kaiser), and I like my primary care physician.  He’s always taken me seriously and referred me to the appropriate specialists, but he’s not a geneticist and I’m sure he’s never heard of this mutation, this gene, or this paper.  I was afraid he would laugh at me if I tried to explain that I bought a test online and found a mutation that suggests I should be screened for HCM.  But that’s what I did, in a nutshell, and to my surprise, he called up cardiology right away.
The cardiologist had never heard of this mutation, either, and went so far as to claim that there aren’t any such dominant mutations in MYBPC3.  All right, the paper came out in 2009 and, living in North America, I didn’t expect a South Asian variant to be well-known, but I didn’t expect the cardiologist to speak so authoritatively on something he was clearly wrong about.  My physician, to his credit, referred me to the genetics department and sent me home.
The geneticist who called me back was surprisingly informed and began the conversation by apologizing for the misinformation the cardiologist gave me.  She was particularly disappointed because she had recently given a talk about mutations in MYBPC3 to that department.  She also hadn’t heard of this mutation, but asked me to forward her the relevant papers and spent a week reading them.  She said that this would be considered a “variant of unknown significance,” but because of the deletion being in MYBPC3, I should be screened for HCM anyway.
I was referred back to cardiology for testing.  I took a resting and stress test EKG that indicated a worrying drop in blood pressure after exercise and an unusually long recovery time (consistent with my experiences attempting to work out).  I got an echocardiogram which didn’t detect HCM but found abnormal wall motion in my heart.  I spoke to another cardiologist who told me: “you aren’t 40 yet, so you aren’t at risk.”  The results were forwarded back to my physician, who summarized them as “normal” and sent me home.
I’m a scientist and I’ve worked professionally with clinicians in the past.  I know how the population statistics work and why they sent me home.  It doesn’t make economic sense for an HMO to spend any more money on me, when they can’t treat the condition, anyway.  But as an individual, this was unsatisfying.  What could I do to empower myself?
A lot of things.  I started dieting and losing weight.  I increased my activity level with more standing and walking, did more yard work and less video gaming.  I cut out a number of stressful activities in my life.  Today, I’m still South Asian, I still have this mutation, and I’m not getting any younger. But I’m back to a healthy BMI. I have an active lifestyle, I e-mail my doctor regularly to keep in touch, and I have a well-documented family history of heart disease.  Most importantly, I’ll be regularly screened for HCM from here on out and that’s one disease that won’t catch me by surprise.
Results will vary due to unique differences in each individual’s DNA. On average users receive at least one or two results that may be relevant to proactively managing health. 23andMe&#8217;s service does not diagnose disease. 23andMe is not a substitute for professional medical or diagnostic advice.

Arnab Chowdry

My Heart, My Family, and MYBPC3

<img loading="lazy" decoding="async" class="alignright size-full wp-image-10136" title="PMWC-2012sv" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/PMWC-2012sv-e1319217484319.jpg" alt="" width="200" height="72">
The 4th annual <a href="http://pmwc2012.com" target="_blank" rel="noopener">Personalized Medicine World Conference</a> (PMWC) begins today at the Computer History Museum in Silicon Valley. 23andMe is excited to be a part of this unique event and we look forward to the engaging discussions that are sure to come out of it.
Our Chief Business Officer Ashley Dombkowksi will talk about 23andMe&#8217;s unique research platform and opportunities for personalized medicine at 11:45 AM today in her talk, &#8220;ReSearch, MeSearch, WeSearch. How Genetics, Consumers, and the Power of Crowd Sourcing are Redefining Healthcare.&#8221;
If you&#8217;re inspired by the idea of exploring your own genetic information or banding together with others to make meaningful research discoveries, come by our booth at PMWC to order a kit! 23andMe staff will be on site from 8am-4pm both days to answer questions, walk you through the Personal Genome Service ®, and get you started. We&#8217;ll also have fun freebies for you to take home with you and, if you mention the secret word &#8220;WeSearch&#8221;, you could take home a free t-shirt!*
We hope to see you at PMWC!
* While supplies last. Limit one t-shirt per person. No purchase necessary. Must be at least 18 years of age to be eligible. Prizes given at PMWC 2012.

23andMe Blog

23andMe Blog Team

See You at the 2012 Personalized Medicine World Conference!

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-6064" title="heartrhythm" src="https://blog-api.23andme.com/wp-content/uploads/2010/02/heartrhythm-300x209.jpg" alt="" width="300" height="209" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/02/heartrhythm-300x209.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/02/heartrhythm.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Atrial fibrillation (AF) is a common heart rhythm disorder that, while not usually life-threatening on its own, can lead to more serious complications such as heart attack and stroke.
AF can be caused by underlying heart problems but high blood pressure, being overweight, and having type 2 diabetes also increases the risk of developing the condition. It would make sense, then, if populations with higher rates of these risk factors exhibited higher rates of AF. This, however, doesn’t seem to be the case: atrial fibrillation is <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2720573/" target="_blank" rel="noopener noreferrer">more common in people of European descent than in African Americans</a> despite the fact that African Americans as a whole tend to have higher rates of hypertension, obesity, and type 2 diabetes.
A research team led by Gregory Marcus of the University of California &#8211; San Francisco and Susan Heckbert of the University of Washington in Seattle investigated whether this seeming contradiction might be due to genetic factors.
<h6>Looking at Differences in Ancestry and Differences in Risk</h6>
Theorizing that European ancestry predisposes people to AF, these investigators looked for correlations between the amount of European ancestry and risk for developing the disease in more than 4,000 African Americans and 15,000 people of European descent.
Their results, <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058884/" target="_blank" rel="noopener noreferrer">published recently in the journal Circulation</a>, show compelling evidence that African Americans with higher amounts of European ancestry are at higher risk for AF. In fact, simply being African American provided a 30% reduction in risk for AF over individuals who derived their ancestry solely from Europe.
When Marcus and his team looked closer, they found that as the amount of European ancestry increased, so did the risk for atrial fibrillation. While the researchers note that this intriguing pattern may be due to non-genetic factors that correlate with amount of European ancestry, they suggest that ancestry itself &#8212; and, thus, genetics &#8212; is the mediating factor.
<div style="background-color: #ffc; padding: 15px; margin-left: 15px; margin-top: 10px; float: right; width: 270px; border: 1px solid #ccc;">Curious how much of your ancestry comes from Europe, Africa, and Asia? 23andMe customers can view a breakdown of their DNA using the Ancestry Painting feature in their accounts. They can also view their genetic results for Atrial Fibrillation (note that genetic information for atrial fibrillation has only been scientifically established in people of European descent).</div>
<h6>Mixed Ancestry</h6>
More broadly, their findings highlight some of the challenges of researching diseases in populations with mixed ancestry.
Does the proportion of ancestry from different parts of the world impact the results? How do we interpret findings discovered in such populations, and what do findings made separately in European and African populations mean for individuals who derive their ancestry from both places?
These are still open questions, and ones that 23andMe hopes to help answer through the Roots into the Future research initiative.
Related blog posts: 
<a href="https://blog.23andme.com/articles/roots-into-the-future/">Roots into the Future: A New Research Initiative for African Americans</a> 
<a href="https://blog.23andme.com/articles/ethnicity-matters-in-research-a-case-study-in-prostate-cancer/">Ethnicity Matters in Research: A Case Study in Prostate Cancer</a> 
<a href="https://blog.23andme.com/articles/hidden-african-ancestry">Our Hidden African Ancestry</a>

The Ancestry Link For Atrial Fibrillation Risk

My sister learned she was a carrier for a recessive disease, Bloom syndrome, late in one of her pregnancies. I remember the panicked call and the weeks of worry as she and her husband awaited his test results; if he was also a carrier, this meant their daughter had a one in four chance of being born with the disorder.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-10818" title="Anne b:w 2" src="https://blog-api.23andme.com/wp-content/uploads/2012/01/Anne-bw-2.jpg" alt="" width="110" height="166">
Thanks to my company, 23andMe, I was able to look at our Family Inheritance feature and see that my sister and I are genetically identical in the region of the BLM gene, making it quite certain that I was also a carrier for Bloom&#8217;s, which is an inherited disorder associated with various health problems and an increased risk of cancer.
Several years later, this information was very helpful when I decided to have children. I retested and confirmed with my physician that I am a carrier for Bloom&#8217;s.
My husband also got tested and learned that he is not a carrier for Bloom&#8217;s, but he is a carrier for Fanconi anemia. Typically in our health care system, I would have to go back and be tested again &#8212; another blood draw, a physician visit and weeks of worry. This time, because I had already been genotyped on over one million data points, I already had my data about Fanconi anemia, a genetic disease associated with certain physical abnormalities and increased risk for some kinds of cancer. It turned out I am not a carrier for Fanconi anemia according to 23andMe data, which reports on the three most common mutations. That was reconfirmed by my physician.
23andMe has given back information to customers on carrier status since 2008.
At the end of 2011, we put out our 44th carrier status report. In 2012, we will be publishing many more.
Genetic testing in pregnancy is usually ordered by a physician based on one&#8217;s ancestry &#8212; Eastern European Jewish (Ashkenazi), Italian, Greek, Middle Eastern, Southern Asian, or African descent. One of the advantages of having a single test that tests for many conditions is that you minimize the guesswork about what you will pass onto your children. We hear over and over again from customers who thought they knew their ancestry but then discovered something new in their DNA.
23andMe believes that by putting this in the hands of consumers, more and more individuals will get tested before getting pregnant. Knowing this information before you are pregnant, we believe, will make you better prepared when you are pregnant.
My sister suffered because she learned something new in the middle of pregnancy and did not expect it. 23andMe wants to encourage getting the information before conceiving so people can go into pregnancy educated and decrease the number of surprises.
Currently insurance companies, by and large, pay for targeted carrier status testing if it can be justified (i.e. if you have the right ancestry that puts you at increased risk for a rare condition) and if you are pregnant.
<img loading="lazy" decoding="async" class="size-medium wp-image-10820 alignright" title="landingpage screengrab" src="https://blog-api.23andme.com/wp-content/uploads/2012/01/landingpage-screengrab-300x192.jpg" alt="" width="300" height="192" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/01/landingpage-screengrab-300x192.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/01/landingpage-screengrab-768x492.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/01/landingpage-screengrab-880x563.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/01/landingpage-screengrab.jpg 923w" sizes="auto, (max-width: 300px) 100vw, 300px" />
We believe that this timing is not optimal and the ancestry guesswork is often wrong. By putting the option in consumers’ hands, we believe more and more people will get this information when they are considering having children. By being <a href="https://www.23andme.com/dna-health-ancestry/">tested for a large panel of recessive conditions</a> regardless of ancestry, couples will have more comprehensive information and will ultimately be better informed.
Here&#8217;s to healthy pregnancies.
www.23andme.com/prospective-parents
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Before You Are Pregnant…

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From 23andMe co-founder and CEO Anne Wojcicki
23andMe Community,
Let me begin by acknowledging that there are many things we could have done better over the years and there are especially things we could have done better with this recent incident involving the changes to our subscription. We admit that we make mistakes. We will continue to make mistakes. I can personally promise you that we will try to listen more and do better. Dedicating resources to our ancestry product and improving our customer service are top priorities for 2012. We hear you loud and clear and we will be making changes.
There has been significant internal confusion about what was promised to our customers at the end of their subscriptions. I understand that to many of you there was no &#8220;confusion.&#8221; For this, I sincerely apologize. We will always try to live up to what we promise &#8212; now and in the future. We want your respect, we want you to be part of our community, and we want you to be part of the fabulous genetic journey before us.
23andMe was built on a passion for genetic research. We believe we are playing an integral part in shaping the future of genetic research and, importantly, making certain the public has unrestricted access to this valuable and potentially life-changing information at a very affordable price. Such ambitions have come with a great deal of resistance. We are committed to the cause. You, the community, have supported us and helped us through these tough times. The one group we never imagined as an adversary is our community members. Sadly, but deservedly, it seems we managed to turn some of our most valuable supporters into adversaries. For this I apologize.
Many have said we’re making changes solely for financial reasons. This is only partially true. The reality is that the external resistance, the ongoing research, and product development are expensive. We’re not “selling out” and we’re not flexible in our mission or values. We will continue to develop the best products out there at an affordable price. But we are not profitable yet and we need to continue to develop our business model. We are in this for the long haul. We will make mistakes again. But we will always try to do the right thing and prove to you that we are worth your hard earned dollars.
We have been searching for a solution that will enable us to make good on our promises to you and also enable 23andMe to continue to move forward with our plans of creating the best health and ancestry experience out there. Going forward:
<ul>
<li>No changes will be made to any accounts until July 31, 2012. If your subscription is set to expire before then, you will continue to receive updates and will not be charged for the additional time. For those who have continued commitments, those will continue. After July 31, 2012, if your account has met it’s commitments, you will have the option of subscribing, buying a Lifetime subscription or canceling your subscription.</li>
<li>Over the next six months 23andMe is putting substantial resources into Ancestry. By end of July, we will create an experience for non-subscribing customers as well as subscribing customers. Non-subscribing customers will have access to the health reports, Relative Finder matches and other ancestry tools that existed while they were subscribing. They will not get access to new or updated reports, new or updated relative finder matches or new features. We are acknowledging now that we have plans to improve and iterate on our ancestry features and that the way the data is presented will likely change. The fundamental data should remain accessible but exactly how it looks and in what features it appears, will likely change.</li>
<li>Customers will not be removed from the Relative Finder database unless they specifically opt out. The 23andMe team is working on creating an experience where subscribing customers will be able to find relatives among subscribers and non-subscribers (assuming they have not opted out). The exact details are still to be determined. Be assured that we understand that Relative Finder is an extremely important feature and we are working hard to make sure we give you the best possible experience.</li>
<li>We will be engaging with leaders from the ancestry community to do our best to create products that meet your needs. CeCe Moore will be leading this initiative with us and we will look to engage many more of you.</li>
<li>For customers who purchased a subscription before 12/21/11, you will have the opportunity to upgrade to a Lifetime subscription for $99 for 30 days after you have met your commitment. If you had already completed your commitment by 7/31/12, you will have until 8/30/12 to purchase the Lifetime upgrade for $99. Upgrades to Lifetime subscription are normally $299. A Lifetime subscription will enable you to retain full access to all the data and tools for the life of the v3 product. We have no immediate plans for v4 and we always try to do as much as we can to make all our features work on all our platforms. v2 customers still have the majority of our functionality.</li>
<li>For customers who have more than three profiles in one account, we recognize the subscription fees can cause financial pain. We hear the concerns and need more time to find the right solution. We will be talking with CeCe Moore and other active community members to find the right solution for those with more than three profiles.</li>
<li>If you originally opted to store your sample with us, and you later cancel your subscription, your stored sample may be discarded.</li>
<li>If you choose to cancel, you will be able to download your Raw Data but will not be able to use the Browse Raw Data feature.</li>
</ul>
The 23andMe team has doubled in size in 2011 and is running full speed making changes, developing new tools and improving the service. Ancestry will be a significant focus for us in 2012. You should expect to see more labs, significant improvements to many of the ancestry services and some new ancestry-related features.
I want to apologize again for the poor communication and the loss of trust. Customers are the core of our business and we will work hard to win you back. We will also work hard to learn from this mistake and make sure we better engage our community in our product development and before we make changes. We are also committing to putting substantial improvements into customer service so we can have an outstanding customer service experience and give you an easy way to communicate with us. We promise 2012 will be an exciting product year.
&nbsp;
Anne
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-10785" style="border-style: initial; border-color: initial;" title="sig_small_transparent" src="https://blog-api.23andme.com/wp-content/uploads/2012/01/sig_small_transparent.jpg" alt="" width="318" height="133" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/01/sig_small_transparent.jpg 318w, https://blogcms.23andme.com/wp-content/uploads/2012/01/sig_small_transparent-300x125.jpg 300w" sizes="auto, (max-width: 318px) 100vw, 318px" />
<div>(23andMe customers may comment &nbsp;here.)</div>

An Update to 23andMe Customers

Each and every one of you &#8212; our 23andMe customers &#8212; is a pioneer who has helped define the field of personal genetics and has made 23andMe a unique and special place. &nbsp;I want to thank all of you for being customers.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-5276" title="Anne Wojcicki, co-founder of 23andMe" src="https://blog-api.23andme.com/wp-content/uploads/2009/11/wojcicki1.jpg" alt="" width="130" height="170">
We’ve been exploring DNA and taking a journey of self-discovery together. And while it’s our DNA that makes each of us unique as individuals, it’s you — the 23andMe community &#8212; that makes our service and the experience we offer so amazing. &nbsp;We hope to have a life-long partnership with you as the field of genetics evolves and new discoveries are made.
We’ve come a long way together. When our service first launched, we only provided 14 reports for a whopping $999. &nbsp;Today, just five years later, we provide more than 200 reports plus genetic ancestry information for just $99 with a monthly subscription fee of $9. &nbsp;23andMe first introduced subscription pricing in late 2010. Our hope was that lowering the upfront investment would make our service accessible to more people. &nbsp;Over the past year we’ve continuously experimented with a variety of pricing models while adding new tools and reports. The good news is that 23andMe has seen its customer base grow by more than 100% over the past year.
Now that we better understand subscriptions for both our customers and our business we are making additional adjustments to our <a href="https://www.23andme.com/">Personal Genome Service ®</a>. For the first time, we are making changes to our services that are not additive, but rather clarify that the initial commitment covers genotyping while the ongoing subscription covers DNA analysis and interpretation along with access to our proprietary tools and technologies. &nbsp;We recognize that for some customers these changes modify their understanding of what is included in the Personal Genome Service ®. We’ll be evaluating various ways to address these concerns in the coming weeks.
We know that some of you have concerns about how these new changes specifically impact the Relative Finder experience. &nbsp;We are listening. &nbsp;We have taken your input and will continue to look for your feedback as we improve and evolve our services in 2012. &nbsp;This will be a learning process as we gather data for the first time about how ending subscriptions impact the experience we provide to our customers. As a business, we are trying to balance optimizing the experience for all of our customers by respecting the privacy of individuals who choose to opt-out of our Personal Genome Service ®. &nbsp;We are also focused on providing the best genetic ancestry tools available and will be making improvements in the coming year.
23andMe brings the stories in your DNA to life. Our Personal Genome Service ® keeps you on top of the latest genetic research and its implications for you. We recently shared stories about discoveries that customers say have saved lives and helped reunite families along with highlights of our work in 2011. We look forward to continuing to help you discover and share your own stories in the coming year.
If you have questions about the recent changes to our Personal Genome Service ® please refer to the FAQ or email your questions to <a href="mailto:help@23andMe.com">help@23andMe.com</a>.
Thank you for being a part of the 23andMe Community. 
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-10785" title="sig_small_transparent" src="https://blog-api.23andme.com/wp-content/uploads/2012/01/sig_small_transparent-300x125.jpg" alt="" width="300" height="125" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/01/sig_small_transparent-300x125.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/01/sig_small_transparent.jpg 318w" sizes="auto, (max-width: 300px) 100vw, 300px" />

A Look Forward: A Letter from 23andMe’s Anne Wojcicki

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We thought 2010 would be hard to top but we’re happy to say that 2011 has been even better. Scientists uncovered new insights into serious conditions like type 2 diabetes and autoimmune disorders as well as traits like iris patterns. New research has also improved our understanding of the genetics of obesity, a condition that affects nearly two-thirds of Americans. And we ourselves contributed even more to the understanding of Parkinson’s disease while delving into areas that researchers traditionally neglect.
All this and much more happened in 2011 and so this list represents just a snapshot of some of the most intriguing developments.
1. The genetics of Parkinson’s disease gets a little clearer and novel breakthroughs may contribute to potential new treatments.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8774" title="cell-culture_petri-dish" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, 23andMe reported discovering novel genetic variants associated with Parkinson’s disease and in the process also replicated nearly two dozen previously reported associations. Later in the year, we also announced the discovery of <a href="https://blog.23andme.com/articles/parkinsons-discoveries" target="_blank" rel="noopener">a potential protective genetic factor</a> against Parkinson’s disease in the SGK1 gene. We’re not the only ones making progress &#8212; in March, scientists at Stanford announced that they’d successfully created <a href="https://blog.23andme.com/articles/milestones-in-the-fight-against-parkinsons-disease" target="_blank" rel="noopener">a line of cells</a> that exhibits biochemical properties of the disease in the petri dish. Together, these discoveries offer hope in the quest for determining causes and developing possible cures.
2. Genetic factors for type 2 diabetes are shared between populations of South Asian and European descent &#8212; but perhaps not equally.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-10069" title="IndianWoman(iStockblog) copy" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/IndianWomaniStockblog-copy-150x150.jpg" alt="" width="150" height="150">
People with South Asian ancestry develop type 2 diabetes at much higher rates than people with European ancestry, but relatively little is known about the genetic factors influencing this increased risk in South Asians. A recent study of nearly 60,000 people of South Asian descent <a href="https://blog.23andme.com/articles/snpwatch-genetic-variants-associated-with-type-2-diabetes-in-south-asians-and-europeans" target="_blank" rel="noopener">identified several genetic variants linked to type 2 diabetes</a>. These variants also seem to be associated with the disease in Europeans, and similarly, genetic factors previously identified in Europeans appeared to be linked to the disease in South Asians. Most of these genetic variants, however, showed stronger effects in one population than the other.
3. Genetic associations with obesity differ depending on age.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1483" title="medicalscale" src="https://blog-api.23andme.com/wp-content/uploads/2008/09/medicalscale-150x150.jpg" alt="" width="150" height="150">
Genetic variants in the FTO gene have been linked repeatedly to risk for obesity, but new research is also revealing the complex interplay between these variants and non-genetic factors. In a <a href="https://blog.23andme.com/articles/snpwatch-association-between-fto-variant-and-obesity-depends-on-age-and-impacts-development" target="_blank" rel="noopener">study published last February</a>, researchers found that the same version of an obesity-linked SNP had the opposite association with BMI in very young children than it did in older children. The association corresponds with a difference in a developmental marker known as “adiposity rebound”. The timing of adiposity rebound has been linked to obesity and related diseases later in life.
4. Genetic variation is in the eye &#8212; or iris patterns &#8212; of the beholder.
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Rings, spots and flecks of color, lines and shapes and furrows – although no two irises are the same, what causes these differences? Thanks to an Australian study of nearly 3,000 individuals, we now know that at least <a href="https://blog.23andme.com/articles/snpwatch-genetic-variation-is-in-the-eye-of-the-beholder" target="_blank" rel="noopener">a few specific genetic variants contribute to the appearance of certain iris patterns</a> such as “crypts”, “furrow contractions”, and pigmented rings. So go on, take a look in the mirror and see what kind of patterns you have in your iris and your genetics!
5. Sex matters in genetic association studies.
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Many diseases occur more frequently in one sex than the other but most genetic research doesn’t look at these differences, potentially missing genetic factors that have opposite effects in men and women or ones that only have an effect in one sex or the other. A Stanford research group analyzed data from one of the largest and first genome-wide association studies and found several genetic variants associated with Crohn’s disease and coronary heart disease in a sex-specific manner. They suggest that many more sex-specific factors are waiting to be identified.
6. His and Hers: Genetic factors underlying prostate cancer differ in different ethnicities and genetic factors influence breast density in women.
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New studies continue to increase our understanding of prostate cancer and breast cancer, two of the most common cancers in men and women, respectively. Women with high mammographic density have four to five times higher risk for breast cancer and in January, researchers reported a <a href="https://blog.23andme.com/articles/snpwatch-researchers-identify-variant-associated-with-breast-density" target="_blank" rel="noopener">genetic variant linked to both mammographic breast density and breast cancer risk in women</a>. For prostate cancer, we know quite a bit about genetic factors in Europeans but far less about those relevant for African Americans. In May, one of the largest studies of prostate cancer in African Americans found that <a href="https://blog.23andme.com/articles/ethnicity-matters-in-research-a-case-study-in-prostate-cancer" target="_blank" rel="noopener">only half of the genetic factors</a> linked to prostate cancer in people of European descent are linked to the cancer in African Americans.
7. 23andMe initiatives old and new prove the power of participant-driven research.
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In 2011, we launched two new research initiatives. The first, focused on myeloproliferative neoplasms, continues our commitment to advancing knowledge of rare diseases using our unique research platform. The second initiative, Roots into the Future, aims to improve our understanding of the connection between DNA and disease in African Americans, a population that is significantly understudied. We’ve been enrolling participants into both of these initiatives at an incredible pace and are extremely excited to begin making important discoveries with their help. And as our Sarcoma Community Night showed us, our research participants are among the most passionate and inspiring people in the world.
8. Scientists discover new genetic factors for migraine susceptibility and 23andMe replicates the findings in days.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-5157" title="migraine" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, the largest migraine study to date reported three genetic variants associated with risk for this debilitating disorder. It turns out that 23andMe’s database contains thousands of people who suffer from migraines and we were able to replicate the new study’s findings in a matter of days. This is just a small example of the power and speed of our research platform as shown by a paper we published in August replicating more than 180 genetic associations for three dozen different medical conditions in a fraction of the time it would take using the traditional research model.
9. Many genetic factors are shared across multiple autoimmune disorders.
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Numerous studies have pinpointed genetic factors associated with autoimmune disorders such as rheumatoid arthritis, multiple sclerosis, lupus, and psoriasis to name a few. Some of these genetic factors pop up over and over again, raising the question of whether these disorders are genetically interconnected. A study published in August took a closer look at this question by examining more than 100 genetic variants previously linked to autoimmune disorders. The result: nearly half of these variants are associated with at least two different conditions.
10. New insights into our shared African ancestry, both ancient and recent.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8628" title="Hadza-hunter" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
Prevailing scientific thought pins the origins of the human species in eastern Africa, but new research published this past March suggests a different story. By measuring genetic variation from different populations around Africa, researchers at Stanford, UCSF and 23andMe found evidence that our ancestral origins may actually lie in southern Africa. And for many people of European descent, their African ancestral origins may be much closer than that. Scientists at 23andMe examined the genetic ancestry of nearly 80,000 individuals who are likely to identify as entirely of European ancestry and discovered that between three and four percent have some amount of “<a href="https://blog.23andme.com/articles/hidden-african-ancestry" target="_blank" rel="noopener">hidden African ancestry</a>”.

Our Top 10 for 2011

They had bigger brains and muscles, but for some reason Neanderthals died out about 30,000 years ago, while we modern humans survived.
Why we, Homo sapiens, flourished and our <a href="https://blog.23andme.com/articles/neanderthal-fade-away">Homo neandertalensis cousins died out</a> after thriving for hundreds of thousands of years is an evolutionary mystery biologist are trying to unravel.
In the last few years, scientists have uncovered clues what the <a href="https://blog.23andme.com/articles/why-23andme-love-neanderthals-and-you-should-too">lives of Neanderthals may have been like</a>. And those clues also tell us more about what it means to be a modern human.
(Discover if you have Neanderthal DNA with 23andMe&#8217;s <a class="waffle-rich-text-link" href="https://www.23andme.com/dna-ancestry/">DNA Ancestry Service</a>, or sign-up for a <a class="waffle-rich-text-link" href="https://www.23andme.com/membership/">membership</a> to unlock even more ancestry insights.)
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<h6>Ancient DNA</h6>
Most interesting of all is that, although Neanderthals disappeared long ago, their DNA lives on in all non-African people.
23andMe now offers a <a href="https://www.23andme.com/you/labs/neanderthal/">lab</a> allowing customers to connect with their prehistoric roots.
The lab, developed by one of our resident computational biologists Eric Durand, compares two modern human genomes with the Neanderthal genome. It can then determine what percentage of your own DNA is Neanderthal. Before coming to 23andMe, Eric worked on the <a href="http://www.sciencemag.org/site/special/neandertal/" target="_blank" rel="noopener noreferrer">first draft of the Neanderthal genome</a> and on analysis of <a href="https://www.nature.com/nature/journal/v468/n7327/abs/nature09710.html" target="_blank" rel="noopener noreferrer">the Denisova genome</a>, another of our early human cousins. The lab uses the same method Eric helped develop while working at the Department of Integrative Biology at the University of California, Berkeley.
See Eric’s white paper for a technical explanation of the methodology.

<h6>Modern Humans</h6>
Most people have <a href="https://www.23andme.com/dna-ancestry/">Neanderthal DNA</a>, on average about 2.5 percent. But there are outliers, who have much more.
What it means to have a higher percentage of Neanderthal DNA – whether you’re hairier, or brutish or short, for instance – isn’t known.
There are some theories, however, of how Neanderthals contributed to modern humans. One is that interbreeding gave us some sort of <a href="https://www.nature.com/news/2011/110809/full/476136a.html">“hybrid vigor,”</a> according to Peter Parham, a geneticist at Stanford University School of Medicine.
At the very least research appears to support the theory that at some point during the tens of thousands of years Neanderthals and modern humans lived side by side, a few of them may have<a href="../2010/05/06/new-evidence-suggests-interbreeding-between-humans-and-neanderthals/"> shacked up</a>.
Or as Elizabeth Kolbert deftly phrased it in the<a href="https://www.newyorker.com/reporting/2011/08/15/110815fa_fact_kolbert#ixzz1fPOs2vp2"> New Yorker</a>: 
“Before modern humans ‘replaced’ the Neanderthals, they had sex with them.”
Provocative to say the least, but it’s actually an idea that’s floated around for some time.
Anybody who ever read Jean M. Auel’s saucy prehistoric romance books beginning with<a href="http://books.google.com/books/about/The_Clan_of_the_Cave_Bear.html?id=4gOtkoiJIjEC"> “Clan of the Cave Bear”</a> could tell you that. But the notion that modern humans and Neanderthals got way past first base. They hooked up and even had children together still doesn’t tell us much about what it means now to have a smidgen of Neanderthal in your DNA.
<h6>Neanderthal Genome</h6>
Svante Paabo, the Swedish geneticist behind the sequencing of the<a href="http://www.eva.mpg.de/neandertal/index.html"> Neanderthal genome</a>, explains that from an evolutionary point of view. Comparing the modern human’s genome to that of the Neanderthal has great value, Paabo said.
Humans and Neanderthals share a common ancestor with chimpanzees – our next closest mammalian relative – that goes back between five and seven million years.
Comparing the human genome with that of chimps tells us a lot about evolution over millions of years. But by having the Neanderthal genome sequence – now 55 percent completed – and comparing that with modern humans, we can learn much more about evolutionary changes over the last 30,000 years.
It may be that the DNA of other prehistoric human groups also are intermixed in our own DNA.
<h6>Other Ancient Cousins</h6>
Much like with Neanderthals, scientists extracted ancient DNA from the skeletal remains of another ancient cousin known as the<a href="../2010/03/24/analysis-of-ancient-dna-suggests-the-existence-of-previously-unknown-type-of-extinct-human-ancestor/"> Denisovans</a>. The remains – a finger bone – were found in a cave in Siberia and showed that Denisovans were cousins of Neanderthals. They lived in Asia and disappeared about 40,000 years ago. Their DNA is found today in Melanesians.
As for the comparisons with the Neanderthals, so far, Paabo’s team has found almost 80 genetic variants that are unique to modern humans. The function of these variants could help us understand what distinguishes us from Neanderthal.
Apparently Paabo’s work has also resonated beyond the scientific community as well.
At a talk late last year, Paabo told a group of neuroscientists that for months he’s been keeping emails from people who have<a href="http://www.guardian.co.uk/science/blog/2011/nov/16/dear-professor-husband-neanderthal"> claimed that they were Neanderthal</a> and should be included in his study. Several women have written to him volunteering their husbands as subjects for study.
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Got Neanderthal DNA?
23andMe customers can find their inner Neanderthal or at least how much Neanderthal DNA they have at <a href=" https://www.23andme.com/you/labs/neanderthal/">23andMe Ancestry Labs</a>. Not yet a customer? <a href="https://www.23andme.com/store">Visit our store</a>!
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Find Your Inner Neanderthal

There’s nothing futuristic about personalized medicine, but James Heywood, the chairman and co-founder of PatientsLikeMe, likes to pull a line from a futurist and science fiction writer to describe it.

“There’s a William Gibson quote that I think is appropriate,” Heywood said in a recent interview in anticipation of his talk at the Personalized Medicine World Conference 2012.
He said, ‘The future is here, it’s just not evenly distributed.’”

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Clearly there is research being done that changes the ways patients are treated and the way scientists investigate disease, but most patients would be hard pressed to describe their brief encounters with their doctors as personalized.

More to Heywood’s point though is that the tools for making medicine more personalized are available, and yet they’re just not being used or at least not widely use.

For example, Heywood said that each and every clinical encounter between a doctor and a patient amounts to “a unique experiment.” The problem, Heywood said, is that it isn’t “computably recorded.” 
In part, PatientsLikeMe is trying create the tools that allow for patients to share that kind of actionable information. The company creates communities of people dealing with the same illnesses and facilitates the sharing of information.
23andMe partnered with PatientsLikeMe, the Michael J. Fox Foundation, the National Parkinson Foundation and other organizations to help recruit patients to our Parkinson’s Research Community. 
PatientsLikeMe collects information from its users so that they can share and learn from fellow patients. This allows them to learn about what they might expect as their illness progresses. 
Heywood offered the example how for a short time lithium was used to treat ALS.
The decision by patients and their doctors to use the drug came from a single small published study. But over time the experience of patients on the drug showed that the publication’s claims were untrue; lithium could not slow the progression of ALS. It was the patient-reported data from PatientsLikeMe’s ALS community that brought this serious problems to the surface. And for those in the greater ALS community, it warned them away from experimenting with the drug before a traditional research study was published telling them much the same thing. 
That is how PatientsLikeMe is meant to work.

“The purpose is to provide meaningful data for patients,” Heywood said.

Users can see how others have reacted to different drugs used to treat their conditions and they can share their own outcomes. This information also connects researchers directly to patients, who can help improve the development of medicine, for instance. They can share that and their own experiences with doctors, he said. 
More broadly, Heywood says that to create a truly patient-centered approach to medicine, we will have to begin to collect rich and vast sets of data. 
Heywood started PatientsLikeMe with his brother Ben, in large part because of their brother Stephen’s diagnosis with ALS.
The mantra for the company has been to answer questions that Stephen, who died in 2006, wanted answered as he endured the illness: “Given my status, what’s the best outcome I can achieve, and how do I get there.”

Latest Posts — Page 161