<a href="https://www.23andme.com/topics/ancestry/family-tree/">Every family has its stories</a>. We just don’t know them all. That’s where genealogy comes in. Through census and military records, notes in family bibles, or conversations with older relatives we can recover some of those family histories. But where memories and traditional paper records fail, we now have a new genealogical tool — our own DNA. The stories in PBS’ series “Finding Your Roots” illustrate the power of genetic genealogy and the use of DNA to solve family mysteries and uncover hidden stories.
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px; margin-bottom: 15px;"><a href="https://www.pbs.org/wnet/finding-your-roots/" target="_blank" rel="noopener noreferrer">Finding Your Roots</a> With Henry Louis Gates, Jr. is a 10-part series in which the Harvard scholar will delve into the genealogy and genetics of famous Americans. Gates uses history and science, including 23andMe’s ancestry tools, to explore race, family and identify in each episode. With the help from expert genealogists, historians and scientists –two of 23andMe’s own helped in the work – Gates reveals fascinating stories and interesting surprises in the family histories of Kevin Bacon, Robert Downey, Jr., Brandford Marsalis, John Legend, Martha Stewart, Barbara Walters and many others. 
23andMe’s Senior Director of Research, Joanna Mountain, is a geneticist who worked as a consultant on the series and was interviewed for a few of the episodes. Mountain, who completed her Ph.D. in Genetics at Stanford University, is also a guest blogger for the series. Her post below first appeared on the Finding Your Roots program page. We’re republishing it here with the permission of PBS.</div>
I’m a scientist. Mysteries and puzzles have always captivated me. For years I studied the fascinating riddle of human genetic diversity, working both at Stanford University and at the University of California, Berkeley to reconstruct human prehistory using DNA.
I knew the power of DNA to help us understand some of the most fundamental questions of human evolution, but it wasn’t until I applied the same science to my own family’s DNA that I saw how powerful it could be personally.
My own genealogical research started with a brownish-yellow, folded sheet of paper that was handed down to my father from his father. That piece of paper traced the history of the Mountain family back to 1755, just before a 5th great grandfather of mine changed his name from Mounton to Mountain. I was fascinated by how many children my ancestors had, and by how they kept reusing the same first names through the generations. I wondered who had made the effort to record, in such neat handwriting, all the names, birthdays, birthplaces and marriages. This faded piece of paper lent such importance to our family’s surname. We are The Mountains!
At the same time, as a professor of anthropological genetics at Stanford University, I was studying the ancestral lineages of people all over the world through DNA. I spent over 15 years studying the DNA of people in Tanzania, Sri Lanka, Italy, and many other far away places. My own use of genetic genealogy had to wait. It was only in 2007, when I began working for the personal genomics company, 23andMe, that I was able to turn my fascination with genetic variation to my own family. Now 15 of my family members and about two dozen of my husband’s family members have been tested.
<img loading="lazy" decoding="async" class="wp-image-11088 size-full alignright" title="MountainFamilyTreeTop" src="http://35.88.189.111/wp-content/uploads/2012/02/MountainFamilyTreeTop-scaled.jpg" alt="" width="2560" height="711" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/MountainFamilyTreeTop-scaled.jpg 2560w, https://blogcms.23andme.com/wp-content/uploads/2012/02/MountainFamilyTreeTop-300x83.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/02/MountainFamilyTreeTop-768x213.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/02/MountainFamilyTreeTop-1024x284.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/02/MountainFamilyTreeTop-880x244.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/02/MountainFamilyTreeTop-1180x328.jpg 1180w" sizes="auto, (max-width: 2560px) 100vw, 2560px" />
One of the first questions I tackled was the genetic lineage of the Mountain line. The challenge was that being female I don’t have a Y chromosome, which is essential for tracing the direct paternal line (from father, to father’s father, to father’s father’s father, and so on). The Y chromosome is one of the two sex chromosomes, the other being the X. Boys inherit a Y chromosome from their father and an X from their mother, while girls inherit an X chromosome from each parent. My father had passed away almost 20 years earlier, and I never had brothers. I knew of just one person with the same Y chromosome as my father — his brother, my uncle Peter in New Zealand. After hearing my pitch my uncle agreed to have his DNA tested. Just a few weeks later the results were in. I learned that my paternal lineage has the name of R1b1b2a1a1d*. Not so meaningful in itself, but this lineage is found mostly on the fringes of the North Sea in England, Germany and the Netherlands, having belonged to residents of Doggerland, a low lying region of forests and wetlands that must have been rich in game… between 9000 and 12,000 years ago. So that’s where the Mountain line originated!
There is no yellowed piece of paper with beautiful handwriting handed down in my mother’s family. In fact, five years ago I knew little more than my maternal grandparents’ names. So I began asking my mother and aunt a few questions. And I checked my results. There is one type of DNA, mitochondrial DNA that all people have, but that is passed down only from mother to child. DNA in the sections of our cells called mitochondria enables us to trace our direct maternal line (from mother, to mother’s mother, to mother’s mother’s mother, and so on) just like the Y chromosome allows people to trace the paternal line. My maternal DNA lineage is called H10a1. This lineage marks a special connection among the group that includes my mother, my sisters and our children. My boys won’t pass on this lineage, but hopefully my niece will have a daughter one day!
The “H” refers to a maternal lineage that originated in the Near East and then expanded, following the decline of the last Ice Age, into Europe, where it is the most prevalent lineage today. Even Marie Antoinette had this lineage! But there are no published details regarding the sub lineage called H10, shared by far fewer individuals than H. To learn more I turned to other colleagues with the H10 lineage. Some, like me, said they trace their ancestry to the United Kingdom. But many more trace ancestry to eastern Europe — Ukraine and Russia. So could my mother’s ancestry trace back to eastern Europe? This was a possibility I had never before fathomed!
Learning my own family’s ancestry connected me to the broader expanse of human history. My DNA not only confirmed what I knew about my English, Irish and Scottish roots, but also revealed deeper roots than I ever imagined along the rim of the North Sea, and a possible newfound link to eastern Europe. As someone, like many Americans, who is far removed from my ancestral homelands, the information connected me to those places. Now I had ancestral stories.
But my family extends beyond my parents and me. I have a husband and two sons, and looking at their DNA added detail and nuance to our family’s story. When we first looked at my husband’s results I thought they were wrong. The results just didn’t fit with what we knew. His family traced ancestry to England, Ireland and Switzerland, but his results pointed to something we hadn’t known about, Native American ancestry on his maternal line. The result spurred my husband to dig more deeply into his maternal line, which is typically more challenging than the paternal line because surnames change each generation. Lo and behold, he found records suggesting that his 6th great grandmother was of mixed ancestry. His South Carolina roots trace not just to European settlers, but also to ancestors living in the Americas 10,000 or more years ago.
Personal genetic information allows you to look not just at your ancient ancestors, but also at very recent connections. One of my favorite moments in this exploration of our family’s genetic genealogy came when my husband and I found some time one evening to show our boys their data. My husband has hazel eyes and mine are brown, but both our sons have blue eyes. It turns out that my husband and I each carry one copy of the “blue” version of an eye color gene, and both of us passed on that version to both boys (one chance in 16!).
<img loading="lazy" decoding="async" class="alignright wp-image-11057 size-medium" title="AnthonyRobertMountain" src="http://35.88.189.111/wp-content/uploads/2012/02/AnthonyRobertMountain-200x300.jpg" alt="" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/AnthonyRobertMountain-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2012/02/AnthonyRobertMountain.jpg 426w" sizes="auto, (max-width: 200px) 100vw, 200px" />
Because my mother had also been tested, we could see that the boys had inherited the blue version from my father, who died almost 23 years ago. So my sons got their blue eyes from my father, the grandfather they never met, who had passed on the genetic variant through me to both of them. When we made this discovery, I quickly looked around for a photo of my dad, finding a tiny one on the office wall. I pointed it out to my younger son, who exclaimed, “Grandpa!” Knowing he had received something in particular from his grandpa strengthened his connection to the man he didn’t know otherwise. And for all of us it added another page to our family’s story.
Joanna Mountain is a geneticist who is a consultant to the PBS series “Finding Your Roots,” and consulted previously on the PBS series “Faces of America.” Dr. Mountain completed her PhD in Genetics at Stanford University and has spent over 20 years studying human genetic diversity. Currently, she is Senior Director of Research at <a href="https://www.23andme.com/" target="blank" rel="noopener noreferrer">23andMe, Inc.</a>

23andMe Blog

23andMe Blog Team

Stories on Every Branch of the Family Tree

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

<img decoding="async" class="alignright size-full wp-image-8873" title="elderly" src="https://blog-api.23andme.com/wp-content/uploads/2011/04/elderly.jpg" alt="" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/04/elderly.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2011/04/elderly-300x223.jpg 300w" sizes="(max-width: 350px) 100vw, 350px" />
With analytical contributions from 23andMe Scientist David Hinds
For all human history people have been obsessed with their own mortality. Early explorers searched the globe for the mythical “fountain of youth,” and now scientists are turning that exploration inward to look at the genomes of people who’ve lived especially long lives.
Longevity runs in families, which suggests that the reason some people live longer than others has something to do with genetics. Indeed, <a href="https://www.ncbi.nlm.nih.gov/pubmed/17903295" target="_blank" rel="noopener">some studies</a> have identified a few genetic variants that occurred more frequently in people who live to be at least 95 years old, for example <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2544566/" target="_blank" rel="noopener">this small study in Japanese men</a>. These few variants, however, don’t seem to contribute significantly to whether someone will live to be 100.
Larger studies looking broadly across the genome for common variants contributing to longevity have mostly come up empty. A <a href="http://biomedgerontology.oxfordjournals.org/content/65A/5/478" target="_blank" rel="noopener">four-study combined analysis</a> published two years ago found no significant associations between common SNPs and longevity, and an initially more promising study published by Paola Sebastiani and Thomas Perls from Boston University was later <a href="http://retractionwatch.wordpress.com/2011/07/21/sebastiani-group-retracts-genetics-of-aging-study-from-science/" target="_blank" rel="noopener">retracted</a> due to <a href="https://blog.23andme.com/articles/snpwatch-uncertainty-surrounds-longevity-gwas" target="_blank" rel="noopener">problems with the analysis</a>.
Explorations of lifestyle factors impacting longevity have also turned up somewhat conflicting results. Most studies indicate that those who live longer have <a href="https://www.ncbi.nlm.nih.gov/pubmed/18268169" target="_blank" rel="noopener">healthier diets, exercise more and experience delayed onset of disease</a>, perhaps due to their healthier lifestyles. Smoking seems to lower one’s chances of living longer. Maintaining a healthy weight may also be associated with <a href="https://www.ncbi.nlm.nih.gov/pubmed/21252546" target="_blank" rel="noopener">better cognitive function</a> and lower risk of dementia. But other studies have found <a href="https://www.ncbi.nlm.nih.gov/pubmed/21812767" target="_blank" rel="noopener">no difference</a> in BMI or diet between long-lived individuals and the average population, suggesting that many other factors are involved.
Despite its elusiveness, the quest to uncover the secrets of longevity continues. As more people live longer, larger studies of the super long-lived will become more feasible. The <a href="http://www.bumc.bu.edu/supercentenarian" target="_blank" rel="noopener">New England Supercentenarian Study</a> led by Boston University, for example, now consists of more than 60 people over the age of 110. Many of these individuals maintain <a href="http://nymag.com/news/features/ashkenazi-jews-2011-11/" target="_blank" rel="noopener">physical independence and mental acuity</a> well past the age of 100. By analyzing the DNA, lifestyle habits, and environmental surroundings of these extremely long-lived people, the researchers hope to learn about genetic as well as non-genetic factors contributing to longevity.
Unfortunately, their most recent findings &#8212; a pair of papers authored by the same group (Sebastiani and Perls) whose paper was retracted last year &#8212; contain little that can be generalized and have methodological shortcomings that call into question the conclusions they do make.
In the first study, an <a href="http://www.frontiersin.org/Genetics_of_Aging/10.3389/fgene.2011.00090/abstract" target="_blank" rel="noopener">analysis of the genomes of two supercentenarians</a>, Sebastiani and Perls suggest that the male supercentenarian’s extreme longevity may be due to an excess of common variants linked to longevity. They base this on the man’s enrichment for a set of previously identified longevity-associated genetic variants but without taking into account the fact that many of the variants in that set are correlated with each other. They also point to his high score on the predictive model described in their second paper, a result that is less surprising considering that the man’s data was used to develop that model in the first place. Several other of their conclusions also appear to be over-interpreted.
<img loading="lazy" decoding="async" class="alignleft size-medium wp-image-6445" title="elderly_1" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/elderly_1-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/elderly_1-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/04/elderly_1.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
A close reading of Sebastiani and Perls’ other paper (the <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0029848" target="_blank" rel="noopener">republished version of their previous retraction</a>) reveals that the number of genetic variants that they identified for their model is actually quite close to the number of expected false positives (the authors misreport the number of expected false positives by a factor of 10). This means that many of the genetic variants that they suggest are associated with longevity are likely not to be associated with longevity at all. The model’s predictive accuracy is also very high when applied to the training data, but much lower when applied to individuals that were not included in the training set, suggesting that the model does not generalize well.
Studies like these certainly hint at the potential discoveries we could make from analyzing the genomes of people who live to be 100 or older. Can we identify common genetic variation predictive of longevity? Do rarer variants play a role? What genes and pathways are important? Ultimately, however, the latest foray into the genetics of longevity raises more questions about methodology and interpretation than satisfying answers or hypotheses. It appears the secrets of the super long-lived will remain secret for now.

Seeking the Secrets of the Super Long-Lived

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

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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.

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" />

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