<img decoding="async" class="alignright size-full wp-image-7533" title="relfinder_matches" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/relfinder_matches.png" alt="" width="335" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/relfinder_matches.png 460w, https://blogcms.23andme.com/wp-content/uploads/2010/10/relfinder_matches-300x91.png 300w" sizes="(max-width: 460px) 100vw, 460px" />
We’ve been following Sheridan’s* journey through the ancestry features at 23andMe over the last few weeks. Because she was adopted with no record of her biological parents, every piece of information has been eye-opening for her. So far, she’s learned that her <a href="https://blog.23andme.com/2010/09/29/ancestry-at-23andme-introducing-sheridan/">maternal haplogroup is H2a</a>, meaning that her biological mother’s ancestors were likely European, and potentially Eastern European. She’s also learned that, overall, <a href="https://blog.23andme.com/2010/10/08/ancestry-at-23andme-sheridans-global-origins/">her genome is most similar to Europeans</a>, followed closely by Northern Africans. Her closest mapping to indigenous populations around the world is with the Mozabites of Northern Africa. But because she may have a mixed background, she knows that this mapping needs to be interpreted as an average of where her biological ancestors were from.
When we last left her, Sheridan had received a request through 23andMe to connect with a potential 5th cousin. What does this actually mean? Well, for one thing, it means that someone has enough DNA in common with Sheridan to be predicted as a 5th cousin using 23andMe’s Relative Finder feature.
Although contacting a potential 5th cousin isn’t quite the same as contacting a biological parent, Sheridan has never contacted any biological relatives before and so is understandably a little bit anxious. Having called it a night after exploring her Global Similarity results, she now takes a deep breath and opens the contact request email.
<blockquote>Hello,
23andMe predicted that we might be 5th cousins! I am African-American and have some genealogical records that I’m willing to share if you’re interested in trying to figure out how we might be related.
Would you be interested in communicating further?
Sincerely, 
Akina</blockquote>
<img loading="lazy" decoding="async" class="alignright wp-image-7534 size-medium" title="5thcousin-videoshot" src="http://35.88.189.111/wp-content/uploads/2010/10/5thcousin-videoshot-300x222.png" alt="" width="300" height="222" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/5thcousin-videoshot-300x222.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/10/5thcousin-videoshot.png 596w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Sheridan is astounded. Here is what is apparently an African-American woman with genealogical records who could be her 5th cousin! She isn’t sure how to respond right away, especially since she’s new to this whole thing and doesn’t even know what a 5th cousin is. Luckily, 23andMe has an educational video titled “<a href="https://www.youtube.com/user/23andMe#p/u/0/qG6BFjoXHvY" target="_blank" rel="noopener noreferrer">Just What Is A Fifth Cousin?</a>” which explains very clearly what being 5th cousins means &#8212; that she and Akina might share great-great-great-great grandparents. As Sheridan thinks about this a bit more, she realizes that the ancestor that might connect her and Akina would have to have lived around 140-160 years ago.
She still has no idea how to figure out their connection, but is willing to give it a try, so she accepts Akina&#8217;s request with a quick message:
<blockquote>Akina,
I&#8217;m new to all this, and I don&#8217;t know if I can contribute much to the search because I&#8217;m adopted. But I&#8217;m eager to learn more about my &#8212; our? &#8212; family tree!
Sheridan</blockquote>
And just how can 23andMe tell whether Sheridan and Akina might be 5th cousins? Two major pieces of information go into 23andMe’s Relative Finder predictions: the % of DNA shared and the number of segments shared between people in the 23andMe database.
<img loading="lazy" decoding="async" class="alignright wp-image-7535 size-medium" title="recombination" src="http://35.88.189.111/wp-content/uploads/2010/10/recombination-300x261.png" alt="" width="300" height="261" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/recombination-300x261.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/10/recombination-768x667.png 768w, https://blogcms.23andme.com/wp-content/uploads/2010/10/recombination-1024x890.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2010/10/recombination-880x765.png 880w, https://blogcms.23andme.com/wp-content/uploads/2010/10/recombination-1180x1025.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2010/10/recombination.png 1204w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Recall that everyone has two copies of each chromosome (except for the X chromosome in men), one from mom and one from dad. These copies exchange analogous segments of DNA with each other &#8212; a process called recombination &#8212; before being passed on to future generations, such that the set of chromosomes you received from your mother (or father) is a mix of the DNA that she got from her parents. Since each parent contributed 50% of your DNA, that means that the % of DNA shared between you and each grandparent is roughly 25%. Every generation you go back will halve the % of DNA shared, on average.
It also turns out that you share roughly the same % of DNA with your parents as you would with a sibling, so how can we tell what type of relationship it is? The number of DNA segments shared is also important &#8212; you would share about 50% of your DNA with a sibling but distributed over many more segments than with a parent. This is because recombination is somewhat random, so you and your sibling received different mixes of DNA from each parent, resulting in a larger number of smaller segments shared between you and your sibling. (The same principle allows us to distinguish between uncle/aunt and grandparent relationships.)
As you go farther back in a family tree to find a common ancestor, the % of DNA and the number of DNA segments shared decreases. Using data gathered from a set of people with known relationships allows us to develop a model to predict what the most likely relationship might be for a new pair of individuals &#8212; like Sheridan and Akina &#8212; using their % DNA and number of segments shared. Although the resolution drops off as predictions become more distant, and the exact type of relationship may not be accurate (e.g. “double cousins”, cousins x-times removed, and other less straightforward relationships are not included in our lists of possible predictions), the prediction is generally in the ballpark.
<img decoding="async" class="alignleft size-full wp-image-7536" style="margin-top: 10px; margin-right: 10px; margin-bottom: 10px;" title="sheridan-relfinder" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-relfinder.png" alt="" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-relfinder.png 779w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-relfinder-274x300.png 274w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-relfinder-768x840.png 768w" sizes="(max-width: 779px) 100vw, 779px" />
Editor&#8217;s note: The image to the left shows the Relative Finder feature prior to the Summer 2011 update. Relative Finder is now also sometimes referred to as <a href="https://www.23andme.com/dna-ancestry/">DNA Relatives</a>.
Sheridan checks the rest of her Relative Finder results (click on image on the left to enlarge) but doesn’t see any matches predicted to be her parents or siblings. Darn! That would have been too easy. As she goes down the list of results, though, Sheridan sees something intriguing. A predicted second cousin? Hovering over this result reminds her that she would share a great grandparent with a second cousin.
Once again, Sheridan is amazed &#8212; and a little nervous &#8212; at what her DNA is able to tell her. She definitely wishes she had more experience researching genealogy to navigate the puzzle pieces of her family tree. But help may be closer than she thinks&#8230;
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<div style="background-color: #ffc; padding: 15px; margin-top: 10px; margin-bottom: 10px; padding-top: 15px;">
Other posts in this series:
<a href="https://blog.23andme.com/articles/ancestry-at-23andme-what-can-you-learn">What Can You Learn?</a> &#8211; An overview of 23andMe&#8217;s ancestry features.
<a href="https://blog.23andme.com/articles/ancestry-at-23andme-introducing-sheridan">Introducing Sheridan</a> &#8211; We meet Sheridan and she learns about her maternal haplogroups.
<a href="https://blog.23andme.com/articles/ancestry-at-23andme-sheridans-global-origins">Sheridan&#8217;s Global Origins</a> &#8211; Sheridan compares herself and her friends to various populations around the world.
(next)  <a href="https://blog.23andme.com/articles/ancestry-at-23andme-finding-connections">Finding Connections</a> &#8211; Sheridan and Brian bond over their fourth cousin connection.
<a href="https://blog.23andme.com/articles/ancestry-at-23andme-old-roots-and-new-horizons">Old Roots and New Horizons</a> &#8211; Sheridan and Brian put together the pieces to sketch out their shared family tree.
</div>
<div>* The people and events described in these posts are fictional. 
</div>

23andMe Blog

23andMe Blog Team

Ancestry at 23andMe: Sheridan’s Got Relatives

<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7521" style="margin-bottom: 10px;" title="genomesunzipped" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/genomesunzipped.png" alt="" width="634" height="97" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/genomesunzipped.png 900w, https://blogcms.23andme.com/wp-content/uploads/2010/10/genomesunzipped-300x46.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/10/genomesunzipped-768x117.png 768w, https://blogcms.23andme.com/wp-content/uploads/2010/10/genomesunzipped-880x134.png 880w" sizes="auto, (max-width: 634px) 100vw, 634px" />
A number of bloggers and researchers stand out in terms of their passion for personal genomics and in-depth coverage of this nascent industry. Many of them share 23andMe’s view that individuals should have access to their genetic information and share our vision of a future where this information has a positive impact on healthcare and people’s lives. A few months ago, some of these prominent voices banded together to form a collective blog called <a href="http://www.genomesunzipped.org/" target="_blank" rel="noopener">Genomes Unzipped</a>. Fast forward to yesterday, when they <a href="http://www.genomesunzipped.org/2010/10/our-genomes-unzipped.php" target="_blank" rel="noopener">announced</a> the true motivation behind the group’s inception: to provide informed, independent analysis of genetic testing and research illustrated through open sharing of their own genetic data.

Initially, the goal of Genomes Unzipped was to have people well-versed in genetics analyze and discuss their genetic data to help educate and inform not just consumers of genetic tests but also researchers and policy-makers interested in the scientific, social, and ethical issues surrounding this type of information. But, as Daniel MacArthur, one of the lead members, states in his announcement post:
<blockquote>“As we discussed the notion of a group of experts analysing their own genomes, one thing rapidly became clear: for maximum public benefit the analyses had to be open and reproducible, and that meant making the underlying data public. In other words, for this to work, members of the group had to be ready to spill their genetic secrets to the world.”</blockquote>
All members of Genomes Unzipped have been tested by 23andMe, and some have had additional scans performed by Counsyl and deCODEme. The members include Daniel MacArthur, a genomics researcher who blogs at <a href="http://scienceblogs.com/geneticfuture/" target="_blank" rel="noopener">Genetic Future</a>; Daniel Vorhaus of the <a href="http://www.genomicslawreport.com/" target="_blank" rel="noopener">Genomics Law Report</a>; and Caroline Wright, Head of Science at the <a href="http://www.phgfoundation.org/" target="_blank" rel="noopener">PHG Foundation</a>; among others.
Although discussion of their results and analyses are still to come, anyone can download raw genetic data and reports for these individuals for free. They have also developed a software tool for browsing genotyping data &#8212; such as that provided by 23andMe*. The browser is available on their website and allows graphical interaction with the raw data from the Genomes Unzipped members.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7520" style="border: 1px solid black; padding: 10px; margin-top: 10px; margin-bottom: 10px;" title="GNZ-browser" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/GNZ-browser.png" alt="" width="576" height="231" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/GNZ-browser.png 951w, https://blogcms.23andme.com/wp-content/uploads/2010/10/GNZ-browser-300x121.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/10/GNZ-browser-768x308.png 768w, https://blogcms.23andme.com/wp-content/uploads/2010/10/GNZ-browser-880x353.png 880w" sizes="auto, (max-width: 576px) 100vw, 576px" />
23andMe is not formally collaborating with Genomes Unzipped on their project and does not endorse any statements or claims made as a result of their use of the 23andMe Personal Genome Serviceâ„¢. We do believe, however, that everyone has a right to access his or her genetic information, and we are happy to see that people are empowered to learn more about their genetics, motivated to develop tools and provide a forum for understanding genetic information, and inspired to improve our knowledge of genetics as applied to individuals. Certainly, the journey on which Genomes Unzipped has embarked will be exciting and educational for participants and observers alike. We can’t wait to see where it will take us.

Researchers “Unzip” Their Genomes For The Public Good

<img loading="lazy" decoding="async" class="alignright size-full wp-image-7457" style="border: 1px solid black; margin-left: 10px;" title="gs-leadin" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/gs-leadin.png" alt="" width="312" height="149" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/gs-leadin.png 312w, https://blogcms.23andme.com/wp-content/uploads/2010/10/gs-leadin-300x143.png 300w" sizes="auto, (max-width: 312px) 100vw, 312px" />
In <a href="https://blog.23andme.com/2010/09/29/ancestry-at-23andme-introducing-sheridan/">her first ancestry foray</a>, Sheridan* learned about her Maternal Line. Through her friend Mesut, she also learned about the Paternal Line feature. But these analyses only told her about a tiny part of her DNA. Other features at 23andMe use DNA contained in the other 22 pairs of chromosomes &#8212; called autosomes &#8212; and can tell her how similar she is to everyone else in the world and whether any of them are related to her through any branch of her family tree. Join us as Sheridan continues to explore her genetic ancestry.
<div style="padding: 10px; background-color: #ffc; margin-bottom: 15px;">Editor&#8217;s note: This post discusses features that are now obsolete. Global Similarity has been replaced by the new Ancestry Composition feature, and Global Similarity: Advanced is now known as Global Similarity Map. However, many of the concepts and information you can learn from these tools are still applicable.</div>
Since the last time we left her, Sheridan has received two more sharing invitations &#8212; one from her friend Hua who’s had an account at 23andMe for a while and one from a family friend named Brian who signed up at the same time as she did and is interested in genetic genealogy. She gladly accepts, figuring that both friends might help her navigate the features at 23andMe and understand the results. A message from Hua accompanies the sharing request:
“I’m so glad you decided to sign up! I can’t wait to see what your data says. By the way, my personal favorite is Global Similarity: Advanced, especially if you’re sharing with people. It’s really interesting seeing where everyone ends up!”
Sheridan can’t think of a better place to go next, so she clicks on Global Similarity. This tool compares your genome (via the roughly 500,000 SNPs that 23andMe tests) to many other publicly available “reference” genomes from individuals around the world, representing major indigenous world populations.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7474" title="sheridan-gs" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-gs1.png" alt="" width="598" height="332" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-gs1.png 711w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-gs1-300x167.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-gs1-271x149.png 271w" sizes="auto, (max-width: 598px) 100vw, 598px" />
<img loading="lazy" decoding="async" class="alignright size-full wp-image-7460" style="border: 1px solid black; margin-right: 10px;" title="sheridan-gs-bars" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-gs-bars.png" alt="" width="246" height="218">
Sheridan immediately notices that her highest similarity is with Northern Europeans. This isn’t that surprising given that her maternal haplogroup indicates probable European ancestry. But she sees that she is also highly similar to African populations, especially Northern Africans. Could this be a clue about her biological father’s origins?
As Sheridan ponders this, her eyes focus on a big, blue button in the top right of the page and she suddenly remembers that Hua had specifically mentioned an “advanced” version of Global Similarity.
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-7469" title="btn_pca_advanced" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/btn_pca_advanced.gif" alt="" width="155" height="34">
Clicking the button takes Sheridan to a more abstract map dotted with clusters of colored squares and larger balloon arrows. Mousing over them, she sees that the green arrow represents herself and the darker arrows her friends. She also notices that each cluster corresponds to a major world population, and clicking on one zooms in to reveal more detailed populations, like the Sardinians of Southern Europe, Mayans of the Americas, and Bedouins of the Near East. In fact, every point on the advanced map (colored square or bubble) corresponds to some person and their genotype. The map arranges all the people/genotypes so that the closer two people are genetically, the closer they appear on the map.
(Click on images to view larger)
<table style="margin: 10px;">
<tbody>
<tr>
<td rowspan="3"><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7477" title="sheridan-gsa" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-gsa.png" alt="" width="310" height="330"></td>
<td><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7478" title="sheridan-gsa-zoomed" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-gsa-zoomed.png" alt="" width="150" height="158" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-gsa-zoomed.png 474w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-gsa-zoomed-284x300.png 284w" sizes="auto, (max-width: 150px) 100vw, 150px" /></td>
<td><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7479" title="hua-gsa-zoomed" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/hua-gsa-zoomed.png" alt="" width="150" height="157" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/hua-gsa-zoomed.png 474w, https://blogcms.23andme.com/wp-content/uploads/2010/10/hua-gsa-zoomed-286x300.png 286w" sizes="auto, (max-width: 150px) 100vw, 150px" /></td>
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<td><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7480" title="brian-gsa-zoomed" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/brian-gsa-zoomed.png" alt="" width="152" height="160" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-gsa-zoomed.png 476w, https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-gsa-zoomed-285x300.png 285w" sizes="auto, (max-width: 152px) 100vw, 152px" /></td>
<td><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7483" title="mesut-gsa" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/mesut-gsa.png" alt="" width="152" height="157"></td>
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<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">
Keep in mind&#8230;
All humans are over 99% identical to each other in their DNA. The smaller percentages we see in Global Similarity (Basic) are due to the fact that we’re only looking at SNPs &#8212; places in the genome that are known to vary in humans. Mousing over all of the reference populations will reveal that the least similar populations are not that different from the most similar population to the person being analyzed.
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Sheridan’s green marker falls near the top of the African region, and zooming in further shows her squarely in the Mozabite population of Northern Africa. She’s not really sure what to make of this, given that her highest similarity is to Europeans. Her friends Hua and Brian, on the other hand, are more straightforward &#8212; Hua lands squarely within the Han Chinese cluster, while Brian is very clearly Irish. Mesut is a little more interesting because he places with the Near Easterners, close to Palestinian individuals but not quite. Sheridan guesses that there isn’t a reference population available that’s closer to Mesut.
Browsing through the informational links on the bottom right side of the page helps Sheridan understand what her placement with the Mozabites of Northern Africa might mean. Every one of us has many ancestors, from potentially many places in the world; what Global Similarity: Advanced does is to locate you on this map roughly at the average of the positions that your ancestors would be placed. For Sheridan&#8217;s Dubliner friend Brian, all of his ancestors are Irish going back five generations, so it&#8217;s not surprising that Brian shows up squarely in the Irish reference cluster. A person with a European dad and a Chinese mom, though, would tend to be plotted about halfway between Europe and China, nearest the reference Central Asian populations.
<div style="background-color: #ffc; padding: 15px; margin-top: 10px; margin-bottom: 10px;">
So Sheridan now finds herself with the following clues: 
 
<a href="https://www.23andme.com/you/haplogroup/maternal">Maternal Line</a> &#8211; H2a. Her mother must have some European ancestry, possibly from Eastern Europe.
Global Similarity &#8211; Highest with Northern and Southern Europeans, then with Northern Africans.
Global Similarity: Advanced &#8211; Mozabite (a Northern African population). Probably represents a genetic location that is intermediate between where her ancestors are from.
</div>
Sheridan’s excited to talk to her friends about what she’s learned but before she can she finds an interesting message in her inbox.
“A potential 5th cousin would like to make contact with you,” it says, making Sheridan’s heart thump.
Tune in next time as we explore Relative Finder and Ancestry Finder, and see who Sheridan’s potential 5th cousin is!
<div style="background-color: #eee; padding: 15px; margin-top: 10px; margin-bottom: 10px;">
Other posts in this series:
<a href="https://blog.23andme.com/articles/ancestry-at-23andme-what-can-you-learn">What Can You Learn?</a> &#8211; An overview of 23andMe&#8217;s ancestry features.
<a href="https://blog.23andme.com/articles/ancestry-at-23andme-introducing-sheridan">Introducing Sheridan</a> &#8211; We meet Sheridan and she learns about her maternal haplogroups.
(next) &nbsp;<a href="https://blog.23andme.com/articles/ancestry-at-23andme-sheridans-got-relatives">Sheridan&#8217;s Got Relatives</a> &#8211; Sheridan responds to a fifth cousin and discovers a predicted second cousin in the 23andMe database.
<a href="https://blog.23andme.com/articles/ancestry-at-23andme-finding-connections">Finding Connections</a> &#8211; Sheridan and Brian bond over their fourth cousin connection.
<a href="https://blog.23andme.com/articles/ancestry-at-23andme-old-roots-and-new-horizons">Old Roots and New Horizons</a> -Sheridan and Brian put together the pieces to sketch out their shared family tree.
</div>
* The people and events described in these posts are fictional.

Ancestry at 23andMe: Sheridan’s Global Origins

<img loading="lazy" decoding="async" class="alignright size-full wp-image-7441" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/cvr9781416569596_9781416569596.jpg" alt="" width="164" height="250">
Taken individually, the letters A, G, T, and C seem relatively harmless. However, when arranged three billion strong into a human genetic code, these letters have instilled fear of discrimination, disease risk, and a genetically engineered super race of humans (Ã&nbsp; la the 1997 film “<a href="http://www.imdb.com/title/tt0119177/" target="_blank" rel="noopener noreferrer">GATTACA</a>”). &nbsp;Once only a subject for science fiction movies, whole genome sequencing is rapidly becoming a reality for the masses. &nbsp;So, what does this mean for you? In his book The $1,000 Genome, Kevin Davies does a commendable job of answering that question.
Dr. Davies introduces us to the people and technologies that have transformed genomic sequencing from a time-consuming and billion-dollar endeavor into what is bound to become a consumer product within the next few years. The $1,000 Genome serves as an excellent guide into the rapidly evolving world of personal genomics. Kevin Davies’ educational qualifications (M.A. in biochemistry and Ph.D. in molecular genetics) combined with his professional experience (founding editor of the world’s leading genetics journal, <a href="https://www.nature.com/ng" target="_blank" rel="noopener noreferrer">Nature Genetics</a>, and author of Cracking the Genome) provide him with a depth of knowledge about the subject matter, the industry, and the people involved in the personal genomics revolution. Extensive interviews with many of the top scientists and industry leaders infuse a refreshingly human element into the story about the race to the $1,000 genome.
Although the entire book is a worthy read, I highly recommend the first and last few chapters that focus on what Davies’ terms the “personal genomics pioneers” or “23 et al.”. &nbsp;This recommendation stems in part from my own preference towards the application of personal genomics services rather than the sequencing technology (detailed in the middle chapters) as well as from an admittedly biased interest in the history of 23andMe. The 23andMe community might enjoy learning &#8212; as I did &#8212; about the co-founders’ visions for the company and the contributions by some of the early team members (one of whom is described by Davies as having “an uncanny resemblance to <a href="https://en.wikipedia.org/wiki/Ashton_Kutcher" target="_blank" rel="noopener noreferrer">Ashton Kutcher</a>”). Furthermore, for anyone who finds the various arguments surrounding an individual’s right to access his or her DNA a bit overwhelming, the latter chapters provide an expert’s perspective on the pros and cons of “genomic democratization” in the realm of health care and government institutions. Although Davies generally appears to be a proponent of consumer genomics, he also provides examples of the possible risks of widespread DNA testing in addition to the benefits.
While reading this book, I found strong parallels between Davies’ general themes and 23andMe’s overall philosophy. Both Davies and 23andMe stress the importance of “empowering the individual” and “democratizing genetics”. &nbsp;Direct-to-consumer genetic testing puts the power of knowledge into the hands of the individual, in contrast to what is often deemed the paternalistic nature of the medical establishment. In a sense, 23 et al. are to the health care industry what the Internet was to communication and commerce–both services circumvent a historically closed and hierarchical structure by enabling anyone at anytime at any place to contribute to and access information.
In addition, Davies highlights how a greater understanding of disease risk may result in an improved emphasis on preventative care rather than treatment. He states, “<a href="https://en.wikipedia.org/wiki/Leroy_Hood" target="_blank" rel="noopener noreferrer">Lee Hood</a>, who invented automated DNA sequencing in the 1980s, espouses a vision in which medicine will–indeed, must–change from its current reactive mode, in which doctors treat already sick patients, to a more rational, preventative philosophy of maintaining wellness.” &nbsp;Our goal at 23andMe is to help you take a more active role in your health by knowing your disease risk and working with your physician to make lifestyle changes accordingly. Research efforts at 23andMe aim to understand the causes underlying many complex diseases in order to improve preventative measures and treatments in the future.
Overall, The $1,000 Genome champions the innovation and progress that is possible with a multidisciplinary approach to health care. Davies goes beyond a simple informative discussion about the direct-to-consumer genetic testing industry to provide a glimpse into the ingenuity and passion of the people who are driving the change. This book will be an interesting read to all 23andMe customers who are eager to learn more about the personal genomics revolution that they have chosen to join. As Davies hints in his book, the journey has just begun!

My $0.02 about The $1,000 Genome

<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7425" style="margin-left: 10px;" title="ancestry-photo-sheridan" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/ancestry-photo-sheridan.png" alt="" width="280" height="152">
Meet Sheridan*. She&#8217;s a 27 year old female who signed up for 23andMe during one of our sales. Adopted at eight months, she has no information about her biological roots and the adoption agency has no records other than where she was found &#8212; on the steps of a church in a small town near Atlanta, Georgia. She otherwise had an uneventful childhood growing up with her loving and supportive adoptive family.
Now married and thinking of having kids of her own, Sheridan wishes more than ever that she knew something about her background. Even simple things &#8212; like her ethnic heritage &#8212; are a mystery to her (the only thing she knows is that she&#8217;s likely to be mixed race). While 23andMe can&#8217;t provide all the answers, its many tools and features might reveal some interesting clues about where Sheridan came from.
Join us as we follow Sheridan&#8217;s journey through Ancestry at 23andMe &#8212; we&#8217;ll release a new clue in each Ancestry how-to post in this series. We&#8217;ll put together the whole story at the end, but feel free to speculate given the clues you&#8217;ve received so far. Top-notch sleuthing wins bragging rights. 🙂

____________________
Sheridan recently got her 23andMe results. She was a little nervous about logging in to see them at first but a few days later she gets a sharing invitation from her friend Mesut, &nbsp;who had agreed to sign up for 23andMe with her.
&#8220;Dear Sheridan,&#8221; it says, &#8220;Mesut Yavas has offered to share the following genetic profile on 23andMe: Mesut Yavas (Complete Edition).&#8221;
An encouraging email from Mesut follows, &#8220;Not certain what exactly this sharing thing is about, so I requested &#8216;Basic&#8217; sharing for now. We must walk before we can run, but soon we will be learning in leaps and bounds. Might as well make the jump, Sheridan! Let our DNA speak to us!&#8221;
&#8220;Well,&#8221; she thinks, &#8220;here goes&#8230;&#8221;
Maternal Line
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-7273" style="padding-left: 10px;" title="female_mt" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/female_mt1-300x225.png" alt="" width="180" height="135" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/09/female_mt1-300x225.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/09/female_mt1-768x576.png 768w, https://blogcms.23andme.com/wp-content/uploads/2010/09/female_mt1.png 800w" sizes="auto, (max-width: 180px) 100vw, 180px" />
Sheridan&#8217;s a little rusty on her high school biology so she calms her nerves and beefs up her genetics knowledge using 23andMe&#8217;s &nbsp;<a href="https://www.23andme.com/gen101/" target="_blank" rel="noopener noreferrer">&#8220;Genetics 101&#8221;</a> educational material. Then she accepts Mesut&#8217;s sharing invitation and clicks on the first link under &#8220;My Ancestry&#8221;: Maternal Line.
As we mentioned briefly in our &nbsp;first “Ancestry at 23andMe” post, the maternal line is traced through mitochondrial DNA, which is found in the parts of our cells that turn food into energy. All of us inherit our mitochondrial DNA from our mother, and so we can use it to learn something about where our mother&#8217;s mother&#8217;s mother&#8217;s ancestors came from. This is possible because as DNA is passed down through the generations, errors in copying, known as genetic variants or mutations, may occur. A maternal haplogroup is a family of mitochondrial DNA types that traces back to a single mutation in a specific individual, usually representative of a significant event (e.g. a migration or development) in human prehistory.
The first thing Sheridan sees under Maternal Line is a map of the world and her &#8220;Maternal Haplogroup&#8221;, &#8220;H2a&#8221; above it.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7405" style="border: 1px solid black;" title="sheridan-h2a" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/sheridan-h2a.png" alt="" width="516" height="284" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/09/sheridan-h2a.png 516w, https://blogcms.23andme.com/wp-content/uploads/2010/09/sheridan-h2a-300x165.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/09/sheridan-h2a-271x149.png 271w, https://blogcms.23andme.com/wp-content/uploads/2010/09/sheridan-h2a-372x204.png 372w" sizes="auto, (max-width: 516px) 100vw, 516px" />
The colors on the map indicate where in the world the H2 haplogroups are most commonly found &#8212; at least before oceanliners and 747&#8217;s made intercontinental travel a simple endeavor. The “History” tab at the top of the page has even more information about H2, and H2a specifically; in fact, H2a is especially common in eastern Europe. This is Sheridan’s first concrete clue about her mother&#8217;s ancestry. She&#8217;s also amused to learn that this haplogroup originated in or near what is now Turkey, since this is where Mesut is from.
That&#8217;s when Sheridan notices a list of people on the right side of the page. There&#8217;s &#8220;Chinese Person&#8221; and &#8220;Japanese Person&#8221;, and clicking on them changes the map to show their haplogroups&#8217; global distributions. Mesut is also in the list, since they are sharing genomes with each other at the &#8220;Basic&#8221; level. His maternal haplogroup is HV1, an ancient haplogroup that&#8217;s found across eastern Europe, central Asia, and northern Africa but is relatively rare in modern-day Turkey.
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<td><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7399" title="mesut-hv1" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/mesut-hv1.png" alt="" width="386" height="213" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/09/mesut-hv1.png 516w, https://blogcms.23andme.com/wp-content/uploads/2010/09/mesut-hv1-300x165.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/09/mesut-hv1-271x149.png 271w, https://blogcms.23andme.com/wp-content/uploads/2010/09/mesut-hv1-372x204.png 372w" sizes="auto, (max-width: 386px) 100vw, 386px" /></td>
<td><img loading="lazy" decoding="async" class="alignleft size-full wp-image-7401" title="sheridan-matline-shares" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/sheridan-matline-shares.png" alt="" width="235" height="150"></td>
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<img loading="lazy" decoding="async" class="alignright size-full wp-image-7402" style="border: 1px solid black; margin-top: 10px; margin-left: 10px;" title="sheridan-mat-tree" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/sheridan-mat-tree.png" alt="" width="214" height="206" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/09/sheridan-mat-tree.png 423w, https://blogcms.23andme.com/wp-content/uploads/2010/09/sheridan-mat-tree-300x290.png 300w" sizes="auto, (max-width: 214px) 100vw, 214px" />
Finally, Sheridan clicks on the last tab at the top of the page, &#8220;Haplogroup Tree&#8221;, revealing a hierarchy of all known maternal haplogroups and their relation to one another through time. From this tree, she sees that haplogroups H2a and HV1 are both descended from haplogroup HV. Since HV split off from its ancestor haplogroup R about 40,000 years ago, this means that Sheridan and Mesut share a common maternal ancestor from around this time &#8212; making them something like 2000th cousins! (Actually, it&#8217;s very likely that they share a more recent common ancestor, but this one we know for sure.)
For 23andMe customers interested in the nitty gritty details, check out the <a href="https://www.23andme.com/you/labs/haplogroup_tree_mut_mapper/" target="_blank" rel="noopener noreferrer">Haplogroup Tree Mutation Mapper</a> under Ancestry Labs (Ancestry Tools). This will show you the SNPs used to define a particular haplogroup, starting with the mutation that defines that haplogroup&#8217;s most recent branch on the tree and working backwards to the root.
Paternal Line
<img loading="lazy" decoding="async" class="alignleft size-medium wp-image-7278" style="padding-left: 10px;" title="male_y" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/male_y1-300x225.png" alt="" width="180" height="135" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/09/male_y1-300x225.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/09/male_y1-768x576.png 768w, https://blogcms.23andme.com/wp-content/uploads/2010/09/male_y1.png 800w" sizes="auto, (max-width: 180px) 100vw, 180px" />
The paternal line is traced through the Y chromosome, which only males have. This DNA is passed down from father to son and so can tell us something about where a man&#8217;s father&#8217;s father&#8217;s father&#8217;s ancestors came from. Although Sheridan does not have a Y chromosome, she might be able to learn about her paternal ancestry through other 23andMe features. (Note that a woman with known male relatives &#8212; father, brother, paternal uncle, etc. &#8212; &nbsp;can link their Paternal Line information to her account if they are listed as 23andMe connections in the &nbsp;Family Tree feature.)
The results in the Paternal Line analysis are presented similarly to the Maternal Line. Even if you have no Y chromosome, you can still learn about all of the different paternal haplogroups through the sample individuals and Haplogroup Tree. And since Sheridan is sharing with Mesut, she can see his paternal haplogroup, too.
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<td><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7415" title="mesut-F" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/mesut-F.png" alt="" width="395" height="205" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/09/mesut-F.png 513w, https://blogcms.23andme.com/wp-content/uploads/2010/09/mesut-F-300x156.png 300w" sizes="auto, (max-width: 395px) 100vw, 395px" /></td>
<td><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7416" title="sheridan-patline-shares" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/sheridan-patline-shares.png" alt="" width="233" height="149"></td>
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Scratching the Surface&#8230;
In just five or ten minutes, Sheridan learned some interesting things about where her mother&#8217;s ancestors &#8212; and she, by extension &#8212; might have come from. As a bonus, she was able to find a connection, however ancient, between herself and her friend. Still, the DNA that goes into maternal and paternal line analyses makes up less than 1% of all the DNA that 23andMe analyzes, and those ancestors represent only one or two branches out of a full family tree. To fill out the other branches and the rest of her genome, Sheridan will have to look at the other Ancestry features at 23andMe.
Next time, we&#8217;ll take a closer look at the Global Similarity <del>and Global Similarity:Advanced</del> features, and reveal another clue about Sheridan&#8217;s ancestry as told through DNA.
<div style="background-color: #ffc; padding: 10px;">Summary of 23andMe features mentioned in this post:</div>
<div style="background-color: #ffc; padding: 10px;"><a href="https://www.23andme.com/you/haplogroup/maternal/" target="_blank" rel="noopener noreferrer">Maternal Line</a> — Uses mitochondrial DNA passed down from your mother to trace the origins of your mother’s mother’s mother’s ancestors.</div>
<div style="background-color: #ffc; padding: 10px;"><a href="https://www.23andme.com/you/haplogroup/paternal/" target="_blank" rel="noopener noreferrer">Paternal Line</a> — (Results generated for men only) Uses Y chromosome DNA passed down to sons from their fathers to trace the origins of their father’s father’s father’s ancestors.</div>
<div style="background-color: #ffc; padding: 10px;"><a href="https://www.23andme.com/you/labs/haplogroup_tree_mut_mapper/" target="_blank" rel="noopener noreferrer">Haplogroup Tree Mutation Mapper</a> (Ancestry Labs/Tools) &#8212; Reports the SNPs used to define specific haplogroups.</div>
<div style="background-color: #ffc; padding: 10px;">Keyword: Haplogroup &#8211; A term used to describe individual branches or closely related groups of branches on genetic family trees. Defined by particular genetic mutations that are shared by all the people who belong to the haplogroup.</div>
* The people and events described in these posts are fictional.

Ancestry at 23andMe: Introducing Sheridan

<img decoding="async" class="alignright size-full wp-image-219" title="feetscale" src="https://blog-api.23andme.com/wp-content/uploads/2008/05/feetscale.jpg" alt="" width="315" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/05/feetscale.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2008/05/feetscale-300x199.jpg 300w" sizes="(max-width: 425px) 100vw, 425px" />
In 2009, 27% of Americans met the clinical criteria for obesity–a body mass index (BMI) of 30 or greater–7 percentage points higher than a mere 9 years earlier. Even this staggering 27% estimate may be too low. A large National Health and Nutrition Examination Study (NHANES) study estimated the prevalence of obesity at 34%. No wonder losing weight is a national preoccupation.
But how much control do we really exert over our weight? We all know people who seemingly gorge themselves at every meal but never gain an ounce and others who all too easily pack on the pounds.
In a paper published in <a href="http://www.plosmedicine.org/article/info%3Adoi%2F10.1371%2Fjournal.pmed.1000332" target="_blank" rel="noopener noreferrer">PLoS Medicine</a>, Shengxu Li and colleagues tackled a piece of that puzzle. Using a sample of 20,000 Europeans, they compared the predictive power of 12 SNPs known to influence BMI in sedentary and physically active individuals. While carrying a greater number of risky versions of these SNPs was associated with higher BMI in both groups, the association was much weaker in the physically active.
In the sedentary group, each additional risky variant translated to a 0.21 increase in BMI, or an extra 1.3 lbs (592 g) for someone 5&#8217;7 (170 cm). By comparison, in the physically active people, each additional risky variant  translated to a 0.13 increase in BMI, or an extra 0.8 lbs (397 g) for someone 5&#8217;7 (170 cm). Leading a physically active lifestyle, they concluded, was associated with a 40% reduction in the genetic predisposition to obesity.
Although we only have 9 of the 12 SNPs covered in our database, a quick analysis using our customers&#8217; data replicated their findings. Carrying more risky variants was predictive of a higher BMI overall, but this effect was much more pronounced among our customers who reported low levels of physical activity.
Of course, the 12 SNPs under investigation do not represent the totality of genetic predisposition to obesity. In fact, the 12 SNPs combined accounted for only 1.2% of the variation in weight among the sedentary individuals, and even less, 0.6%, among the physically active. Other genetic factors not measured in this research, such as rare variants associated with BMI, likely play a role as well.

Jeans Too Tight? Don’t Just Blame Your Genes.

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<td><img loading="lazy" decoding="async" class="alignleft size-thumbnail wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 150px) 100vw, 150px" /></td>
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by Uta Francke, M.D.
The European Society of Human Genetics (ESHG) has issued a policy statement on direct-to-consumer (DTC) genetic testing for health-related purposes. Published in the Society&#8217;s journal, the European Journal of Human Genetics, <a href="https://www.ncbi.nlm.nih.gov/pubmed/20736974" target="_blank" rel="noopener">the statement</a> addresses a multitude of issues and proposes regulations. Given that 23andMe Services are available to citizens of most European countries, I was interested to check out how current 23andMe policies and practices measure up to the recommendations of the ESHG statement.  I am a human geneticist, born in Germany, but not a member of the ESHG. I am a professor of Genetics and Pediatrics at Stanford University, and have served as a consultant to 23andMe for three years. In this statement, the ESHG agrees that individuals have a right to access their own genetic information, and for many, but not all, recommendations 23andMe appears to be in full compliance.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">DTC advertising of genetic testing should be “accurate and transparent, not misleading, not overstating, and include information about limitations, risks and benefits of the tests”.</div>
All 23andMe advertising that I have seen conforms to these guidelines. In the document “<a href="https://www.23andme.com/about/tos/" target="_blank" rel="noopener">Terms of Service</a>” (TOS) that 23andMe customers sign, the risks and considerations regarding the services are clearly spelled out. Before signing up for the services customers are urged to consider that genetic information is irrevocable, that customers may obtain information that is unexpected and may evoke strong emotional responses or may have social, legal or economic implications.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">A medical professional should be involved before the test is taken to ensure there is sufficient information about the purpose and appropriateness of testing, its possibilities and limitations as well as the clinical significance, and to ensure that the individual understands these limitations.</div>
23andMe has written statements extensively addressing these issues but does not provide individual pre-test counseling. If they wish, customers could consult with independent genetic counselors before getting their data, or before signing up.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">For post-test counseling, an appropriately trained person needs to help the individual understand the medical facts of the disorder and relevance of the test results.</div>
Interestingly, ESHG recommends that this healthcare professional be independent of the testing company: ”A conflict of interest may arise when the healthcare professionals involved in the counseling are employed by or linked to the companies selling the tests. In this case impartial health advice might be compromised.” This recommendation is in agreement with 23andMe’s practice of advising customers not to change their health behaviors based on the genetic information alone but to discuss it with a physician or other health provider. Also in agreement with the ESHG policy statement, 23andMe does not employ genetic counselors. Instead, genetic counseling is offered for those clients who desire it by referring them to an independent group of genetic counselors (<a href="http://www.informeddna.com" target="_blank" rel="noopener">Informed Medical Decisions</a>) trained specifically in 23andMe&#8217;s services.
In the United States, various professional organizations and government agencies are debating regulation of the genetic testing industry. As Statements, Perspectives and Opinion pieces are published in medical and scientific journals, readers should consider the biases and affiliations of the authors that might reveal potential conflicts of interest. For example, organizations like ESHG, the American Society of Human Genetics (ASHG), and the American College of Medical Genetics (ACMG) were created to represent the interests of their professional membership, similar to the American Medical Associations (AMA) for physicians. Any claims to act in the public interest by protecting people from potentially damaging genetic information may reflect a fear of the new consumer-driven healthcare system that, as in the case of DTC genetic testing, may circumvent the professional establishment. Insisting on individual professional counseling in the pre-testing and post-testing phase can be interpreted as an attempt to ensure continued involvement of board-certified genetics professionals.   In this context, I reveal that I am an American Board of Medical Genetics certified clinical and molecular geneticist and a member of the ASHG and the ACMG.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">ESHG states that individual medical supervision falls into the realm of primary care providers and calls for genetics training of these providers and improved genetic education of the public.</div>
As readers of this blog are well aware, the 23andMe website offers many tools for genetic education to the public free of charge. In addition, I hope that 23andMe will extend efforts to educate the primary health care community.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">ESHG stresses the importance of ensuring the high quality of genetic testing services. This includes requiring that well-trained and appropriately certified personnel do tests in accredited laboratories, and that clinical validity and clinical utility have been established for tests offered.</div>
23andMe meets the first requirement by using a CLIA certified laboratory (National Genetics Institute) to perform the tests. Thus, there is little doubt about the analytical validity of the genotyping, i.e., results reported are greater than 99% accurate. 23andMe critically evaluates the literature and only reports results of tests with clinical validity, meaning that the reported associations between SNP and disease exceed statistical significance cut-off and have been replicated by independent studies.
While proof of clinical utility is a worthwhile goal for genetic tests, the rapid rate of new discoveries in genetic marker-disease associations outpaces the ability of the medical research community to provide evidence for beneficial clinical outcomes of these tests in a timely fashion. While insisting that clinical utility be an essential criterion for deciding to offer a test directly to the public, the ESHG has taken the position that “tests for which the clinical utility is unproven but seems likely should be performed in the context of the healthcare system and be subject to adequate post-marketing surveillance.”   In my opinion, allowing research to go forward is a wise decision; insisting on experimental evidence of clinical utility for each test would grind progress to a halt.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">The ESHG expresses concern about the adequacy of consent processes for companies that perform research on the biological samples and information obtained from their customers.</div>
Alleviating such concerns, 23andMe has created a separate community of customers willing to participate in research, <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">23andWe</a>. This research project is IRB-approved and uses a separate <a href="https://www.23andme.com/about/consent/" target="_blank" rel="noopener">consent form</a> stating clearly the conditions for participating, and options to participants, on issues such as risks, benefits, privacy, commercialization and property rights. In addition, 23andMe is transparent about its use of customer data outside of peer-reviewed research, such as for product improvement. It seems to me that in its research activities, 23andMe is in full compliance with the ESHG recommendations.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">The ESHG, as are other professional organizations, is strongly opposed to genetic testing of minors unless the test result will be relevant to clinical diagnosis or management of the child.</div>
In contrast, 23andMe leaves the decision to the parents who can submit samples from children less than 18 years old and who control access to their children’s genotyping data. Parents may decide to share some or all of the information with their children. Once they reach the age of 18 years, young customers have the choice to withdraw from participating and have their account closed. I can imagine that teenagers learning about genetics in high school and at university will benefit from the opportunity to examine their own data on genetic traits; it will make learning more fun and relevant.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">The ESHG statement refers to other European Union documents that advocate for government action to protect citizens from harm.</div>
When contemplating whether genetic information may be dangerous to individuals, one needs to consider access to all medical information. After many years of fighting for this right, patients now have access to their medical records within the established healthcare system. In a system with complete electronic medical records like the one I belong to (Palo Alto Medical Foundation), my doctor orders laboratory tests and I receive e-mail notification as soon as test results are available. I can then access the new test results directly. The website displays the statement “If you have questions or concerns regarding your test results, contact the provider who ordered the test.” Thus, in contrast to the professional organizations that insist on direct involvement of medical genetics specialists in the post-testing phase, in my healthcare system it is not mandatory that a physician be inserted between the test results and the patient. I am able to directly access any and all test results, including my APOE genotype, and I like it this way.
As governmental agencies and professional society committees in this country are drafting regulations and guidelines, I hope they will view the activities of DTC genetic testing companies in the larger framework of consumer-driven changes in the health care delivery systems.
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<img loading="lazy" decoding="async" class="alignleft size-thumbnail wp-image-7282" style="margin-right: 10px;" title="francke" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/francke-130x150.jpg" alt="" width="91" height="105" />
Uta Francke is a professor of genetics and pediatrics at Stanford University. Her research has ranged from human and mouse chromosome identification and gene mapping to the discovery of genes involved in heritable disorders, studies of their functions and of disease-causing mechanisms.  She is also a consulting member of 23andMe&#8217;s <a href="https://www.23andme.com/about/editorial/" target="_blank" rel="noopener">Editorial Advisory Board</a>.
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Uta Francke

Guidelines From Professional Human Genetics Societies and 23andMe Policies

Genetic testing for ancestry is not a concept that most people encounter outside of popular TV shows and so when you hear about services such as 23andMe’s, you might be wondering what exactly it is you’re getting. Even after you’ve signed up and have your data back, you might not know where to start exploring or how to make sense of the wealth of information you’ve just received. Since many people are unfamiliar with genetics and 23andMe offers several unique features, we’ll be presenting a series of posts to help both current customers and the curious reader to understand what you can (and can’t) learn from genetics and from 23andMe in particular.
This first post is part of the “Ancestry at 23andMe” series and is an introduction to the types of information we can tell you about your ancestry. (There will also be a “Health at 23andMe” series to cover the features found in the Health portion of our service.) It may be a review for some, but should help orient those new to genetics or 23andMe (for an even more basic primer, check out our videos in  <a href="https://www.23andme.com/gen101/" target="_blank" rel="noopener noreferrer">Genetics 101</a>). Read on, and let us know if you have a question you would like to see featured in future articles on the 23andMe blog!  
<h6>Ancestry at 23andMe: What Can You Learn?</h6>
<img loading="lazy" decoding="async" class="size-medium wp-image-7225" title="family-tree-labeled" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/family-tree-labeled-300x225.png" alt="" width="300" height="225" /> 
People who have contributed to your DNA.
Using DNA to <a href="https://www.23andme.com/topics/ancestry/family-tree/">uncover clues about your ancestry</a> is a tantalizing prospect for many people. Adoptees and people with diverse ethnic backgrounds may be especially interested in finding out more about where they came from. But even those who have relatively thorough knowledge about their family’s roots may be curious about the more obscure branches of their family tree or the deeper ancestry that connects them to all humans on this planet. Fortunately, DNA acts as a biological record that can reveal many of the pieces of story that is us.
With 23andMe’s genetic testing services, individuals can see what their DNA says about where in the world their ancestors came from, what populations they might be a part of, and who else in the world shares that DNA with them.
<h6>Types of DNA</h6>
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<td style="text-align: right;">Who contributed this DNA if you are&#8230;</td>
<td style="text-align: center;">Female</td>
<td style="text-align: center;">Male</td>
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<td style="text-align: left; font-size: 13px;">Autosomal DNA is found in the 22 pairs of non-sex chromosomes passed down to us equally from our mothers and fathers, one of each pair from each parent. This is about 96% of the DNA that makes you you.</td>
<td><img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-7188" style="margin: 8px;" title="female_auto" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/female_auto1-300x225.png" alt="" width="200" height="150" /></td>
<td><img loading="lazy" decoding="async" class="size-medium wp-image-7194 aligncenter" style="margin: 8px;" title="male_auto" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/male_auto1-300x225.png" alt="" width="200" height="150" /></td>
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<td style="text-align: left; font-size: 13px;">The X chromosome is one of the larger chromosomes and contains a large number of essential genes. Women have two copies, one each from mother and father; men have just one copy, inherited from their mother (except in rare genetic conditions).</td>
<td><img decoding="async" class="size-medium wp-image-7192 aligncenter" style="margin: 8px;" title="female_x" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/female_x1-300x225.png" alt="" height="150" /></td>
<td><img decoding="async" class="aligncenter size-medium wp-image-7198" style="margin: 8px;" title="male_x" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/male_x1-300x225.png" alt="" height="150" /></td>
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<td style="font-size: 13px;">The Y chromosome is what makes someone male. Men have one of these, passed down from their father.</td>
<td style="text-align: center;">N/A</td>
<td><img decoding="async" class="size-medium wp-image-7200 aligncenter" style="margin: 8px;" title="male_y" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/male_y1-300x225.png" alt="" height="150" /></td>
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<td style="font-size: 13px;">All of us also have mitochondrial DNA (mtDNA), found in the chemical factories &#8212; the mitochondria &#8212; inside each of our cells that convert the food we eat into energy for our bodies. mtDNA is always passed down from mother to child.</td>
<td><img decoding="async" class="size-medium wp-image-7190 aligncenter" style="margin: 8px;" title="female_mt" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/female_mt1-300x225.png" alt="" height="150" /></td>
<td><img decoding="async" class="size-medium wp-image-7196 aligncenter" style="margin: 8px;" title="male_mt" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/male_mt1-300x225.png" alt="" height="150" /></td>
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Each type of DNA has unique properties that are informative for ancestry. Because your mitochondrial DNA comes all in one piece from your mother &#8212; and she received it from her mother, and so on &#8212; we can say pretty definitively where that piece of your DNA came from. In fact, scientists can map all mtDNA onto a family tree of sorts, tracing back to a “mitochondrial Eve”, the common female ancestor that gave rise to all variations of mtDNA around today.
This mapping is possible because DNA isn’t always copied perfectly when it’s passed from parent to child. With each successive generation, the changes spread and become the background from which new changes arise, serving both to distinguish different maternal lineages from each other and to connect lineages to each other at some point in genealogical time. So one thing that 23andMe can tell you is where that piece of DNA &#8212; from your mother’s mother’s mother’s ancestors &#8212; is from. (23andMe customers can see this information in the <a href="https://www.23andme.com/you/haplogroup/maternal/">Maternal Line</a> feature of their account.)
Similarly, because the Y chromosome is passed down exclusively from father to son, we can use it to trace the ancestry of a small part of your DNA if you are male. The same principle of DNA variation spreading and building up through generations allows scientists to construct a tree for all the paternal lineages and allows 23andMe to map a man’s Y chromosome DNA to a particular branch in that tree. (Male 23andMe customers can see this information in the <a href="https://www.23andme.com/you/haplogroup/paternal/">Paternal Line</a> feature of their account.)
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<td width="180">
<img loading="lazy" decoding="async" class="alignleft wp-image-7265 size-full" style="margin-top: 15px; margin-right: 10px;" title="dna-pie-labeled" src="http://35.88.189.111/wp-content/uploads/2010/09/dna-pie-labeled.png" alt="" width="151" height="102" />
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-7216" style="margin-right: 10px; margin-top: 10px;" title="ancestry_tree" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/ancestry_tree.png" alt="" width="140" height="105" />
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-7217" style="margin-right: 10px; margin-top: 10px; margin-bottom: 15px;" title="global-origins" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/global-origins.png" alt="" width="140" height="100" />
</td>
<td>Your maternal &#8212; and for some, paternal &#8212; line gives you an interesting piece of your DNA history, but it is a very small part. Your autosomal and X chromosome DNA make up almost 99% of all your DNA, and is passed down from both parents (except for the X chromosome in males, which comes only from the mother). This means that the DNA can be used to infer more distant relatedness between individuals on any branch of their family tree &#8212; 4th cousins, for example, who share common great-great-great-grandparents &#8212; based on the percentage of DNA shared. Thousands of people are already making connections with distant relatives through 23andMe’s database. (23andMe customers can explore our <a href="https://www.23andme.com/you/relfinder/">DNA Relatives</a> (Relative Finder) and  <del>Ancestry Finder</del>  Countries of Ancestry features which use these principles.)
More generally, we can compare your autosomal DNA to that of different populations around the world and show you which groups of people you are most similar to genetically. This can be done at a very high level with broad ethnic groups or global populations, or at a finer-grained level with more specific populations, such as Han Chinese or Norwegian. (23andMe customers can see these using the <del>Ancestry Painting</del>  Ancestry  Composition  <del>Global Similarity</del> and <del>Global Similarity: Advanced</del> <a href="https://www.23andme.com/you/labs/global_similarity_map/">Global Similarity  Map</a>  features.)</td>
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Unlike maternal and paternal line analysis, autosomal and X chromosome DNA analysis cannot tell us much definitively past a certain number of generations. Because each pair of chromosomes recombines, or mixes, before being passed down from parent to child, the size of possible shared segments gets successively smaller with each generation. Too small, and it’s no longer possible to tell whether the segment truly came from a shared common ancestor, or if it’s identical simply by chance. The information we can infer, however, is much more versatile. And although scientific methods using autosomal and X chromosome DNA are not as firmly established or plentiful as those used for mtDNA and Y chromosome analyses, this should change as more research accumulates.
The cool part is that all of these features we&#8217;ve just mentioned are just the tip of the iceberg. One thing that separates 23andMe’s services from most other genetic ancestry services is that we use data about hundreds of thousands of variants in the human genome &#8212; places where a single DNA letter can vary between individuals, called single nucleotide polymorphisms, or SNPs (“snips”). This offers greater resolution and versatility than more traditional methods, allowing us to provide a unique and constantly evolving set of tools for exploring your ancestry.
In the <a href="https://blog.23andme.com/2010/09/29/ancestry-at-23andme-introducing-sheridan/">next post in this series</a>, we illustrate 23andMe’s ancestry features in more detail by following some (fictional, but based on real) customers as they explore their 23andMe data.
<h6 style="background-color: #ffc; padding: 10px;">Summary of 23andMe features mentioned in this post:</h6>
<div style="background-color: #ffc; padding: 10px;"><a href="https://www.23andme.com/you/haplogroup/maternal/">Maternal Line</a> &#8211; Uses mitochondrial DNA passed down from your mother to trace the origins of your mother&#8217;s mother&#8217;s mother&#8217;s ancestors.</div>
<div style="background-color: #ffc; padding: 10px;"><a href="https://www.23andme.com/you/haplogroup/paternal/">Paternal Line</a> &#8211; (Possible for men only) Uses Y chromosome DNA passed down to sons from their fathers to trace the origins of their father&#8217;s father&#8217;s father&#8217;s ancestors.</div>
<div style="background-color: #ffc; padding: 10px;"><a href="https://www.23andme.com/you/relfinder/">DNA Relatives</a> (Relative Finder) and  Countries of Ancestry &#8211; Uses autosomal DNA passed down from both parents to connect you to other 23andMe users who may be related to you.</div>
<div style="background-color: #ffc; padding: 10px;">Ancestry Composition  and <a href="https://www.23andme.com/you/labs/global_similarity_map/">Global Similarity Map</a>  &#8211; Uses autosomal DNA passed down from both parents to place your DNA in the broader context of populations, continents, and regions of the world.</div>
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Other posts in this series:
<a href="https://blog.23andme.com/2010/09/29/ancestry-at-23andme-introducing-sheridan/">Introducing Sheridan</a> &#8211; We meet Sheridan and she learns about her maternal haplogroups.
<a href="https://blog.23andme.com/2010/10/08/ancestry-at-23andme-sheridans-global-origins/">Sheridan&#8217;s Global Origins</a> &#8211; Sheridan compares herself and her friends to various populations around the world.
<a href="https://blog.23andme.com/2010/10/15/ancestry-at-23andme-sheridans-got-relatives/">Sheridan&#8217;s Got Relatives</a> &#8211; Sheridan responds to a fifth cousin and discovers a predicted second cousin in the 23andMe database.
<a href="https://blog.23andme.com/2010/10/22/ancestry-at-23andme-finding-connections/">Finding Connections</a> &#8211; Sheridan and Brian bond over their fourth cousin connection.
<a href="https://blog.23andme.com/2010/10/29/ancestry-at-23andme-old-roots-and-new-horizons/">Old Roots and New Horizons</a> &#8211; Sheridan and Brian put together the pieces to sketch out their shared family tree.
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Ancestry at 23andMe: What Can You Learn?

<img loading="lazy" decoding="async" class="alignright size-full wp-image-7140" title="iStock_000006212593XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall.jpg" alt="" width="308" height="307" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall.jpg 347w, https://blogcms.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall-271x271.jpg 271w" sizes="auto, (max-width: 308px) 100vw, 308px" />
Endometriosis, one of the most common gynecological conditions, occurs when tissue from the lining of the uterus implants elsewhere in the body–most commonly the fallopian tubes, the ovaries or the pelvis.
<h2>What is Endometriosis?</h2>
This tissue responds to hormonal cycles by thickening, breaking down and bleeding each month. The blood can become trapped, irritating surrounding tissue and leading to cysts and scars.
Because relatives of women with endometriosis are about seven times more likely to be affected themselves, there is thought to be a strong genetic component to the condition.
<h2>Common Genetic Variants</h2>
Japanese researchers recently identified a common genetic variant that appears to be associated with increased risk of developing endometriosis. 
This finding, published in the journal <a href="https://dx.doi.org/10.1038/ng.612" target="_blank" rel="noopener noreferrer">Nature Genetics</a>, may shed light on the underlying biology of this condition that affects an estimated 2-10% of women of reproductive age, and could perhaps one day facilitate new methods of prevention or treatment.
Satoko Uno and colleagues analyzed the DNA of a total of 1,423 women with endometriosis and 1,318 controls, all from Japan.   At first the researchers did not find any SNPs that had statistically significant associations with the condition.   However, when they took the 100 strongest associations and followed them up in an additional 484 women with endometriosis and 3,974 controls, they found evidence for association for one SNP located in the CDKN2BAS gene, which regulates genes known to be involved in cell division, including CDKN2A.   Based on previous research, the scientists suggest that regulation of CDKN2A might be critical for controlling cell growth in endometrial tissue.

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