Sometimes the best way to see something is to look at it from a different angle. Scientists have begun doing just that with data from genetic studies. Traditional genome-wide association studies, or GWAS, start with a phenotype of interest and find which genetic variants are associated with it. Phenome-wide association studies, or PheWAS, metaphorically turn this on its head by starting with a genetic variant and finding which phenotypes are associated with it.
<h6>Variant Targeting</h6>
A recently<a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0186405"> published paper</a> in the journal <a href="http://journals.plos.org/plosone/">PLOS One </a>illustrates the potential of using 23andMe data in this way. By starting with a genetic variant and then sorting through hundreds of seemingly unrelated health-related phenotypes, researchers can gain insight into the genetics of some health conditions and the best ways to treat them.
For example, phenotypes identified in a PheWAS could help point to potential side effects of <a href="https://blog.23andme.com/23andme-research/23andme-and-drug-discovery/">targeting a variant</a> with a drug. With what is now the largest database in the world of genotypic and phenotypic data from people who have consented to participate in research, 23andMe is uniquely positioned for these kinds of scientific studies.
<img loading="lazy" decoding="async" class="size-large wp-image-25916" src="https://blog-api.23andme.com/wp-content/uploads/2017/12/Data-Viz-1024x576.jpg" alt="" width="1024" height="576" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-1024x576.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-1180x663.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz.jpg 1366w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />

<h6>GWAS and PheWAS</h6>
Over the last decade, ever-larger genome-wide associations have uncovered a growing list of genetic variants known to influence disease. But understanding the causal roles these variants play is often difficult to discern, and that’s where PheWAS can help.
“This approach is relevant to drug discovery when a variant is known to have a functional effect, and the available traits include conditions which have been previously studied,” according to the authors of the study in PLOS One.
<h6>GSK Study</h6>
The study, done by researchers with GlaxoSmithKline and 23andMe, focused on seven genetic variants in genes in the biological pathway known as TH17, which play a role in several autoimmune and infectious diseases. The researchers took each of those genetic variants and then compared them across more than 1,200 different health-related traits for more than half a million 23andMe customers who consented to participate in research.
What the researchers found were both known and new associations,  including a regulatory variant in the RORC gene associated with allergy and asthma. This association has not been reported on before. The researchers also found associations between a variant in the TYK2 gene and several conditions such as psoriasis, Crohn’s disease, and infections. It’s this association that could help for future drug targets, according to the researchers.
The researchers noted the limits of this study, but they pointed out the potential of studies like it.
“We hope that the emergence of (Electronic Medical Records)-linked biobanks with genetic data will facilitate more routine use of the PheWAS screen providing insights into drug development strategies for targeting these genes and pathways,” the researchers concluded.

23andMe Blog

23andMe Blog Team

New phenome-wide association study offers insight into autoimmune diseases

In the largest genome-wide association study of its kind, an international team of researchers led by scientists at the University of Pittsburg have identified dozens of genetic associations for <a href="https://www.23andme.com/topics/traits/earlobe-type/">detached earlobes</a>, a seemingly simple trait that is much more complex than once thought and could yield insights into serious genetic conditions.



<h2 class="wp-block-heading" id="h-beyond-earlobes">Beyond Earlobes</h2>



Beyond revealing more about the complex genetics behind whether a person’s earlobes are attached or not, the findings also could give insights for those working to treat genetic conditions that impact facial-cranial development.



“Sometimes the genetics of a fairly simple trait are actually quite complex,” <a href="http://www.upmc.com/media/NewsReleases/2017/Pages/shaffer-weinberg-earlobe.aspx">said lead author John R. Shaffer, Ph.D</a>., assistant professor in Pitt Public Health’s Department of Human Genetics, and the Department of Oral Biology in Pitt’s School of Dental Medicine. “By understanding that complexity, we can work toward treatments for genetic conditions, several of which have distinct facial features that involve the earlobe, including Mowat-Wilson Syndrome.”







<figure class="wp-block-image aligncenter"><img loading="lazy" decoding="async" width="800" height="937" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/Meisje_met_de_parel.jpg" alt="" class="wp-image-25835" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/11/Meisje_met_de_parel.jpg 800w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Meisje_met_de_parel-256x300.jpg 256w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Meisje_met_de_parel-768x900.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Meisje_met_de_parel-751x880.jpg 751w" sizes="auto, (max-width: 800px) 100vw, 800px" /></figure>



<h2 class="wp-block-heading" id="h-study-size">Study Size</h2>



Published in the <a href="http://www.cell.com/ajhg/fulltext/S0002-9297(17)30421-4">American Journal of Human Genetics</a>, the large-scale genetic study was an international collaboration, with contributions from investigators in the United Kingdom and China. It included data from 23andMe.



The study identified 49 different genetic associations, looking at data from a diverse group of more than 74,000 people with European, Chinese, and <a href="https://blog.23andme.com/articles/latino-ancestry">Latino ancestry</a>. More than 65,000 of those included in the study are 23andMe customers who consented to participate in research. Those large numbers helped to dramatically increase the statistical power of this study, making it the largest genetic association study of earlobe attachment to date.



The researchers started with a smaller group of 10,000 participants and identified six genetic variants strongly associated with <a href="https://www.23andme.com/topics/traits/earlobe-type/">earlobe attachment</a>. When the analysis was broadened to include the 23andMe participants, researchers replicated those six variants along with 43 others.



&#8220;This is the unique power of 23andMe&#8217;s research platform — to quickly and easily make genetic discoveries across a wide variety of phenotypes,&#8221; said Joyce Tung, 23andMe’s vice president for research.



This kind of research can uncover &#8220;biology that might never otherwise see the light of day because it doesn&#8217;t obviously meet the priorities for research funding,” Joyce said. “And yet, important insights can still be drawn even from seemingly insignificant traits.&#8221;



<iframe loading="lazy" src="https://www.youtube.com/embed/ioGCP2qATZo" width="560" height="315" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

New research finds genetic association for detached earlobes

<h6>23andMe Collaborates with (RED) This Holiday</h6>
For the first time in the company’s history, 23andMe created a limited edition kit (RED)-branded genetic testing kit this holiday, to support the (RED) Non-Profit Organization’s fight to end AIDS.
“The (RED) organization has an incredible mission and believes in harnessing the power of people to help,” said Tracy Keim, vice president of Brand at 23andMe. “They know that as consumers, we all have tremendous power to impact someone else&#8217;s life with a purchase. And we were honored to be a part of their holiday (RED) initiative this year.”

<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/Red--1024x536.png" alt="" class="aligncenter size-large wp-image-25909" width="1024" height="536" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/11/Red--1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Red--300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Red--768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Red--880x460.png 880w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Red-.png 1124w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
In the spirit of the holidays and Giving Tuesday, a total of 25,000 23andMe (RED) Health + Ancestry kits will be available for purchase through: <a href="https://www.amazon.com/b?node=17159855011">Amazon.com/RED</a>, 23andMe website and certain retail outlets. Limited edition kits will be sold now through December 31, 2017 (or until we stock out). Five percent of the purchase price of every kit will be donated to fight AIDS.
(RED) partners with the world’s most iconic brands that contribute up to 50 percent of profits from (RED)-branded goods and services to the Global Fund.
Since 2006, (RED) has generated more than $475 million for the Global Fund to fight AIDS, Tuberculosis and Malaria, to support HIV/AIDS grants in Ghana, Kenya, Lesotho, Rwanda, South Africa, Swaziland, Tanzania and Zambia. 100 percent of that money goes to work on the ground – no overhead is taken. Global Fund grants that (RED) supports have impacted more than 90 million people with prevention, treatment, counseling, HIV testing and care services.

Your DNA DISCOVE(RED)

Thanksgiving is about family. A ritual that weaves together each generation, sharing old memories, making new ones, and seeing in all that, the common heritage we share in our DNA.
A few days ago 23andMe invited about half a dozen families to come together for a holiday dinner and a chance to meet a newfound father, mother, brother or sister for the first time. 
“It’s an emotional thing for me because I always thought I was as an only child,” said Barbara Saunders, just before meeting her sisters Ida Sturgill and Joyce Randall. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/LMW0704-1024x683.jpg" alt="" class="aligncenter size-large wp-image-25902" width="1024" height="683" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/11/LMW0704-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/11/LMW0704-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/11/LMW0704-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/11/LMW0704-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/11/LMW0704-1180x787.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /> The meeting in New York just before Thanksgiving was the culmination of months of talking and email after the sisters had connected using 23andMe. Now they were getting a chance to see each other for the first time.
“I have chills,” said Ida, before Barbara walked in and all three sisters hugged.
Their embrace and disbelief at seeing and touching their newfound sister were much like what rippled through each family that came together.
Standing with her son, Travis, Ida Pollock looked both excited and nervous, as she waited to meet “my son that I gave up for adoption 55 years ago.”
Barrie stood with his son, Alex, pinching himself that this was all possible. As she entered the room and their faces flushed with emotion, he uttered, “Oh my goodness,” and embraced his mom, and then his brother. 
Ida said she felt thankful. Bodie felt overwhelmed.
“To have everything come full circle like this is just beyond being thankful,” he said.
As Natosha Brown walked in and saw her biological father, William, and her four sisters and a niece, her father said he had been searching for her since he’d learned of her birth. 
“I feel like we have 36 years to make up for,” Natosha said. Smiling and crying the sisters embraced. Her father captured the feeling of everyone who was there.
“It’s a blessing and its thanksgiving, so what better time,” he said.
See more about the families that met for the first time using 23andMe <a href="https://www.youtube.com/watch?v=zY7JOD4eQR0&#038;list=PLFvkfbvHpp1kU9nvguZrZ2Y7nYc8_swVA">here</a>. 
&nbsp;
<iframe loading="lazy" width="560" height="315" src="https://www.youtube.com/embed/zY7JOD4eQR0" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

23andMe Family Stories for the Holiday

By Erica Bellman, Ancestry Content Writer
Let’s imagine that, in lieu of your Aunt Betsy from Seattle, an ancient Neanderthal woman is coming to your house for Thanksgiving this year. Hide the china and practice your grunting, right? Well, maybe not. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-25886" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/iStock-596802262-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-596802262-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-596802262-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-596802262-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-596802262-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-596802262-1180x787.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-596802262.jpg 1254w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Though their table manners might be lacking, the popular &#8220;caveman&#8221; stereotype is more myth than fact. Neanderthals were actually quite similar to modern humans and exhibited complex social behaviors.
“As a culture, we tend to think of Neanderthals as these brutish, bent-over, hairy individuals—a bit more ape-like than us. But there’s no evidence that supports that idea,” said Professor Tim Weaver, an anthropologist at UC Davis whose research focuses on human evolution. “I think the stereotype that’s permeated our popular culture stems from old reconstructions of the Neanderthals dating back to the early 20th century. As far as we can tell from their anatomy, genetics, and behavioral and cultural remains, Neanderthals were very similar to modern humans.”
<div style="float: right; text-align: justified; width: 320px; background-color: #eee; padding: 15px; margin-left: 10px;">
<h6>More about your Neanderthal guest</h6>
<ul>
<li>She probably lives in a cave—so try to be sensitive if she’s not up on the latest in politics and pop culture.</li>
<li>Neanderthals were thought to be quite social. Your guest likely has a nuclear family and a close-knit community of hunter-gatherers, so be sure to ask about her kids, parents, and friends.</li>
<li>Her physical traits may include a heavier brow, an oval-shaped skull, and a larger-than-average nose (try not to stare).</li>
<li>She’s probably on the stockier and more muscular side, so make sure her seat comfortably accommodates her stature.</li>
<li>Based on evidence that Neanderthals possessed sophisticated <a href="https://www.sciencedaily.com/releases/2015/01/150114101528.htm">toolmaking skills</a>, your guest may be able to handily carve up the turkey or roast using a stone or bone instrument.</li>
<li>She may or may not be able to communicate with you verbally<a href="#_ftn5" name="_ftnref5">[5]</a> , so be prepared to use another means of conversing.</li>
<li>Be sure to ask about her neighborhood. Neanderthals were intimately in touch with their surroundings, harvesting from the land to survive. She’ll be an expert on the best hikes and outdoor activities in her homeland.</li>
</ul>
</div>
<h6>Cousin</h6>
Here’s what we know of our human cousins.
The Neanderthals were our closest extinct relatives who lived throughout Eurasia 200,000 to 40,000 years ago, during the Pleistocene Epoch. Over this time glaciers retreated and advanced, and once-abundant food sources became scarce.
Before anatomically modern humans (that’s us) left Africa, the ancestors of the Neanderthals ventured into Eurasia. Ultimately, the Neanderthals would inhabit<a href="#_ftn1" name="_ftnref1">[1]</a> a vast expanse of land stretching from Portugal to western Siberia and from northern Europe to Israel and Iraq. The Neanderthals intermixed with modern humans emerged from Africa about 60,000 years ago, giving us both <a href="https://blog.23andme.com/23andme-research/new-neanderthal-research/">evolutionary advantages</a> (like the functioning of our immune systems<a href="#_ftn2" name="_ftnref2">[2]</a>) and some <a href="https://blog.23andme.com/news/the-neanderthal-within/">less-favorable variants</a>, such as susceptibility to certain allergies, depression, and blood clots.
<h6>Some History</h6>
For millennia Neanderthals thrived, but eventually they went extinct, and scientists aren’t entirely sure why. Some theorize that migration and random species drift<a href="#_ftn3" name="_ftnref3">[3]</a> (a mechanism of evolution that produces random, rather than selection-driven, genetic changes in a population) caused the disappearance of the Neanderthals, while others blame dietary insufficiencies<a href="#_ftn4" name="_ftnref4">[4]</a> caused by changing ecological and climatic conditions. Perhaps the most popular explanation for the disappearance was competition with modern humans for resources.
But one thing is for certain: the Neanderthals did intermix with modern humans before their demise, so segments of their DNA live on in many of us today. Unless you’re from Sub-Saharan Africa, your DNA reflects somewhere between one percent and four percent Neanderthal ancestry.
<h6>Time to Eat</h6>
Now, we’ll get to the main course of this post: what to serve your guest for Thanksgiving dinner. Contrary to popular belief, Neanderthals were not all die-hard carnivores, so it’s best to avoid offending your guest with a plethora of meat dishes. Rather, our ancient relatives adapted their diets to match the resources that were readily available and most abundant in nutrients, so be sure to ask where exactly she is from. Your Neanderthal guest may also be particular about what she will and won’t eat. “From what we know from the archaeological record and the bones found at Neanderthal sites, they seemed to focus more on large mammals rather than small game like rabbits. The breadth of their diets seems to have been narrower than those of modern humans,” said Professor Weaver.
Two Neanderthal individuals found in a cave in El Sidrón, Spain appeared to have consumed little to no meat. Traces of pine nuts, moss, tree barks, and mushrooms were found in this pair’s dental plaques, suggesting a mostly vegetarian diet (err, except for the evidence of cannibalism found in their cave&#8230;but we digress). After studying the dental plaques of another Neanderthal found in Spy, Belgium, scientists concluded<a href="#_ftn6" name="_ftnref6">[6]</a> that the individual ate mostly meat, as well as some mushrooms. Woolly rhino or wild sheep ragout, anyone? The bones of mammoths, reindeer, and horses were also found in the Spy cave. Other research<a href="#_ftn7" name="_ftnref7">[7]</a> reports that Neanderthals living on the Gibraltar coast may have eaten various mollusks, seals, and even dolphins. In summary, Neanderthals ate what was most readily available and nutrient-dense in their immediate surroundings; they adapted their diets<a href="#_ftn8" name="_ftnref8">[8]</a> to meet the resources provided by their environments.
Enjoy connecting with your Neanderthal guest and learning about some of the traits you might have in common. By the end of the meal, we predict you and your other relatives will be competing to see who had the good fortune of acquiring the most Neanderthal DNA.
<h5 style="text-align: center;">Curated Menu</h5>
<ul>
<li><a href="http://www.simplyrecipes.com/recipes/sauteed_greens_with_pine_nuts_and_raisins/">Sauteéd Greens with Pine Nuts and Raisins</a>. Opt for wild edible greens like dandelion and chicories. High in fatty acids and calorically rich, pine nuts also contain lutein, a carotenoid that may help prevent eye disease.</li>
<li><a href="https://www.epicurious.com/recipes/food/views/leek-and-wild-mushroom-stuffing-107292">Wild Mushroom and Leek Stuffing</a>. If your guest is from Spain, she’s likely fond of a variety of mushrooms. High in dietary fiber, B vitamins, and minerals, they’re fundamental to her diet. Bonus points if you forage for them yourself.</li>
<li><a href="http://www.foodnetwork.com/recipes/alton-brown/crown-roast-of-lamb-recipe-2082917">A Crown Roast of Lamb</a>. Rather than turkey, opt for this earthy, gamey alternative. Your guest will appreciate the simple preparation and ample protein. If lamb isn’t available, your guest may also enjoy venison or reindeer.</li>
<li><a href="http://www.foodandwine.com/recipes/baked-clams-bacon-and-garlic">Baked Clams with Bacon and Garlic</a>. Your guest may hail from a coastal region. She’d appreciate these flavorful bivalves, oven-roasted with savory bacon and spices.</li>
<li><a href="http://www.forestandfauna.com/foraging-wild-greens-miners-lettuce-salad/">Miner’s Lettuce Salad.</a> Since it’s still unclear whether all Neanderthals were as adept at controlling fire as their human relatives<a href="#_ftn9" name="_ftnref9">[9]</a>, we’re also including a raw option. This version has fresh Miner’s lettuce, a wild edible that tastes like a cross between watercress and spinach.</li>
<li><a href="https://cooking.nytimes.com/recipes/1015198-fresh-and-wild-mushroom-stew">Wild Mushroom Stew.</a> End your meal with a cup of wild mushroom stew to keep your guest warm for her journey home.</li>
</ul>
<div>Erica Bellman is a Ancestry Content Writer at 23andMe. She writes content for 23andMe&#8217;s Ancestry product, surfacing stories that enable customers to better understand their unique results. As a journalist, Erica has interviewed performance artists, indie rock bands, and backcountry skiers. Her favorite author is Haruki Murakami. </div>
<hr />
<a href="#_ftnref1" name="_ftn1">[1]</a> Fabre V et al. (2009). &#8220;Genetic evidence of geographical groups among Neanderthals.&#8221; PLoS One. 4(4):e5151. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664900/">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664900/</a>
<a href="#_ftnref2" name="_ftn2">[2]</a> Callaway E. (2011). &#8220;Ancient DNA reveals secrets of human history.&#8221; Nature. 476(7359):136-7. <a href="https://www.nature.com/news/2011/110809/full/476136a.html">https://www.nature.com/news/2011/110809/full/476136a.html</a>
<a href="#_ftnref3" name="_ftn3">[3]</a> Kolodny O et al. (2017). &#8220;A parsimonious neutral model suggests Neanderthal replacement was determined by migration and random species drift.&#8221; Nat Commun. 8(1):1040. <a href="https://www.nature.com/articles/s41467-017-01043-z">https://www.nature.com/articles/s41467-017-01043-z</a>
<a href="#_ftnref4" name="_ftn4">[4]</a> El Zaatari S et al. (2016). &#8220;Neandertal versus Modern Human Dietary Responses to Climatic Fluctuations.&#8221; PLoS One. 11(4):e0153277. <a href="http://journals.plos.org/plosone/article?id=info%3Adoi%2F10.1371%2Fjournal.pone.0153277">http://journals.plos.org/plosone/article?id=info%3Adoi%2F10.1371%2Fjournal.pone.0153277</a>
<a href="#_ftnref5" name="_ftn5">[5]</a> D&#8217;Anastasio R et al. (2013). &#8220;Micro-biomechanics of the Kebara 2 hyoid and its implications for speech in Neanderthals.&#8221; PLoS One. 8(12):e82261. <a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082261">http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082261</a>
<a href="#_ftnref6" name="_ftn6">[6]</a> Weyrich LS et al. (2017). &#8220;Neanderthal behaviour, diet, and disease inferred from ancient DNA in dental calculus.&#8221; Nature. 544(7650):357-361. <a href="https://www.nature.com/articles/nature21674">https://www.nature.com/articles/nature21674</a>
<a href="#_ftnref7" name="_ftn7">[7]</a> Stringer CB et al. (2008). &#8220;Neanderthal exploitation of marine mammals in Gibraltar.&#8221; Proc Natl Acad Sci U S A. 105(38):14319-24. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567146/">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567146/</a>
<a href="#_ftnref8" name="_ftn8">[8]</a> El Zaatari S et al. (2016). &#8220;Neandertal versus Modern Human Dietary Responses to Climatic Fluctuations.&#8221; PLoS One. 11(4):e0153277. <a href="http://journals.plos.org/plosone/article?id=info%3Adoi%2F10.1371%2Fjournal.pone.0153277">http://journals.plos.org/plosone/article?id=info%3Adoi%2F10.1371%2Fjournal.pone.0153277</a>
<a href="#_ftnref9" name="_ftn9">[9]</a> Gowlett JA. (2016). &#8220;The discovery of fire by humans: a long and convoluted process.&#8221; Philos Trans R Soc Lond B Biol Sci. 371(1696). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874402">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874402</a>

Erica Bellman

Six Things to Serve Your Neanderthal Guest for Thanksgiving

ZDogg — aka Dr. Zubin Damania, a doctor and a hip-hop humorist of healthcare — was in the house at 23andMe last week, for a conversation with our CEO and co-founder Anne Wojcicki for his <a href="https://www.facebook.com/ZDoggMD/videos/10155753496107095/">Facebook Live show, Incident Report</a>.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/IMG-6024-300x169.png" alt="" class="alignright wp-image-25880 size-medium" width="300" height="169" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/11/IMG-6024-300x169.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/11/IMG-6024-768x432.png 768w, https://blogcms.23andme.com/wp-content/uploads/2017/11/IMG-6024-1024x576.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/11/IMG-6024-880x495.png 880w, https://blogcms.23andme.com/wp-content/uploads/2017/11/IMG-6024-1180x663.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/11/IMG-6024.png 1334w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Thick with fun and facts, the wide-ranging hour-long conversation was meant to focus on what direct-to-consumer genetic testing means for health care professionals, many of whom have been critical of offering genetic health risk reports to consumers. In the last few years, 23andMe has <a href="https://medical.23andme.org/">engaged with physicians</a> and other health care professionals both for training but also to improve what we do.
&#8220;To me, the most important thing that 23andMe is doing is we&#8217;re giving the consumer a voice in healthcare for themselves,&#8221; Anne told Zubin.
But she added that to make the kinds of changes to the healthcare system that would empower consumers, it has to be in partnership with the medical community.
A longtime customer of 23andMe, Zubin has carved out a unique following among his fellow physicians, not just an entertainer but as a healthcare visionary and evangelist for what’s being called the Health 3.0 Movement. This started back when he was still in residency at Stanford when he first started making parody rap videos tweaking the lyrics of Tupac or <a href="https://www.youtube.com/watch?v=jfieCuBrMyE">Jay Z rhymes</a> with his own, railing against what he sees as a dysfunctional healthcare system that offers more rewards to treating illness than on preventing them from happening in the first place.
Beyond poking fun at the system, Zubin also set up a widely lauded but now closed clinic in Las Vegas called <a href="https://www.youtube.com/watch?v=jfieCuBrMyE">Turntable Health</a>, that attempted to flip that paradigm around, based not on a fee per service but instead on a sort of monthly membership fee in a full-service clinic set up to keep them healthy. The emphasis was on prevention and fostering a deeper doctor-patient relationship.
Check out Zubin and Anne’s conversation.
&nbsp;
<iframe loading="lazy" width="560" height="315" src="https://www.youtube.com/embed/VL9PA8nxNzY" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

Rapping with Dr. Z at 23andMe

By many external measures Elon Musk, the wildly successful CEO and founder of<a href="http://www.tesla.com/"> Tesla</a> and<a href="http://www.spacex.com/"> SpaceX</a>, should be happy, but opening up recently about his experience with depression reveals that no one is immune to mental illness.
In a conversation on Twitter, Musk<a href="http://www.marketwatch.com/story/elon-musk-admits-to-unrelenting-stress-says-he-may-be-bipolar-2017-07-31"> spoke about</a> his “great highs, terrible lows, and unrelenting stress.” <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/Elon-Musk-Tweet-1-1024x602.png" alt="" class="aligncenter size-large wp-image-25858" width="1024" height="602" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-Tweet-1-1024x602.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-Tweet-1-300x176.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-Tweet-1-768x452.png 768w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-Tweet-1-880x517.png 880w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-Tweet-1-1180x694.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-Tweet-1.png 1238w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
While doctor&#8217;s note that a diagnosis can only be made by a psychiatrist, Musk has questioned whether he may have bipolar disorder. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/Elon-Musk-3-1024x476.png" alt="" class="aligncenter size-large wp-image-25860" width="1024" height="476" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-3-1024x476.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-3-300x139.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-3-768x357.png 768w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-3-880x409.png 880w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-3-1180x548.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/11/Elon-Musk-3.png 1218w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
Whatever afflicts Musk, his openness sheds much-needed light on mental health concerns that are often kept in the shadows, and that disclosure is timely.  Depression doesn’t discriminate, and Musk’s willingness to be so open also helps to destigmatize an illness which impacts so many people worldwide. 
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/iStock-623285570-1024x682.jpg" alt="" class="aligncenter size-large wp-image-25838" width="1024" height="682" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-623285570-1024x682.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-623285570-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-623285570-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-623285570-880x586.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-623285570-1180x786.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/11/iStock-623285570.jpg 1255w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
Organizations such as <a href="http://bringchange2mind.org/">Bring Change to Mind</a> with educational programs and social media campaigns like #strongerthanstigma, are working hard to end the fear around talking about mental illness, inform people about them, and open up dialogue. The attention could help people better understand depression and what distinguishes the clinical diagnosis from situational feelings of sadness, as well as what differentiates bipolar disorder from major depressive disorder. (You can find out more about bipolar disorder <a href="https://www.nimh.nih.gov/health/topics/bipolar-disorder/index.shtml">here</a>, and major depressive disorder <a href="https://www.nimh.nih.gov/health/topics/depression/index.shtml">here</a>.) 
While advocacy groups and others are trying to educate and end the stigma, scientists are doing their best to better understand the causes and potential treatments for these illnesses. 
In 2016, in what was then the<a href="https://www.nature.com/articles/ng.3623.epdf?shared_access_token=2L701P0aoTugcpIZV_UxDtRgN0jAjWel9jnR3ZoTv0PP-e6MaKfwdoFYRj8g9D1xDb6bJ1uGA1UjyIKokNVDLTnRuKcWMhh79nIxx72yX9SVmCk7BF6wsPtOYEwU_jusesdKi0iT9c3E5z3SwC0sXWsNXiGGmHdldHOLvCJ7EvE%3D"> largest study</a> of its kind focused on major depressive disorder, researchers from Pfizer, Massachusetts General Hospital and 23andMe identified new genetic variants associated with depression. Earlier this year 23andMe launched a first-of-its kind study on <a href="https://www.23andme.com/depression-bipolar/">Major Depressive and Bipolar Disorders</a> in collaboration with <a href="http://www.milkeninstitute.org/">The Milken Institute</a> and <a href="http://www.lundbeck.com/global/brain-disorders/disease-areas/depression">Lundbeck</a>. Reflecting perhaps the broad interest and need for this kind of research, we were able to recruit 25,000 people for this study in record time. 
More than 16 million Americans are affected by depression each year, and nearly 6 million Americans live with bipolar disorder, according to statistic from the National Institutes of Health. And these conditions don’t discriminate hitting young and old, wealthy and poor alike. 
A 2015 study found that<a href="http://uk.businessinsider.com/austen-heinzs-suicide-and-depression-in-startups-2015-7?r=US&#038;IR=T"> 30 percent of entrepreneurs</a> like Musk experience depression, so high achievement doesn’t necessarily keep you from getting stuck in the doldrums. Abraham Lincoln or Winston Churchill, for example, both<a href="http://www.dailymail.co.uk/health/article-3734903/From-Mahatma-Gandhi-Abraham-Lincoln-Great-leaders-mental-illness-triumphed-result.html"> famously wrote about suffering from depression</a>.
According to the<a href="http://www.who.int/mediacentre/news/releases/2017/world-health-day/en/"> latest estimates from the WHO</a>, more than 300 million people are now living with depression worldwide, an increase of more than 18 percent between 2005 and 2015. A lack support for people with mental illness, along with a fear of stigma, prevents many from accessing the treatment they need.

The point is that there are many people impacted by depression and that, is in part, one of the reasons 23andMe is so committed to studying it. That interest extends beyond just 23andMe, to the now thousands of individuals who have joined our study.

Depression does not discriminate

A remarkable aspect of 23andMe&#8217;s Ancestry Composition feature is that the innovative machine learning technology under the hood gets better and more precise as we add new customers and refine our technology.
We&#8217;ve been revving that machine up lately, so this week some customers who have tested on our latest genotyping chip will start to see more precise detail in their<a href="https://www.23andme.com/dna-ancestry/"> Ancestry Composition</a> results.
What’s happening here reflects both changes to our genotyping chip and our ever-increasing numbers of new customers. These new customers enabled us to “retrain” the machine learning algorithm and improve the accuracy and specificity of ancestry assignments we report. So now, for example, a customer with a percentage of their Ancestry Composition previously designated as “Broadly European,” may now see some of this ancestry assigned as &#8220;French or German.&#8221;
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-1024x647.png" alt="" class="aligncenter size-large wp-image-25829" width="1024" height="647" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-1024x647.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-300x190.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-768x485.png 768w, https://blogcms.23andme.com/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-880x556.png 880w, https://blogcms.23andme.com/wp-content/uploads/2017/10/24936289936_507c63c5e3_o-1180x746.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
These changes improve an already fantastic feature by boosting precision and recall for many ancestral populations. Customers interested in their <a href="https://blog.23andme.com/23andme-and-you/23andme-how-to/meet-your-chromosome-painting/">Chromosome Paintings</a> may also notice improvements due to our use of an updated &#8220;phasing&#8221; algorithm. 
These changes will also help set the table for 23andMe to begin to add additional reference populations in the coming months. These, in turn, will also improve results for customers. 
Currently, we use 24 reference populations from around the world to report 31 population labels, including higher-order groupings. Adding new populations will allow 23andMe to offer more details to customers. That was in part what motivated our researchers to launch the <a href="https://blog.23andme.com/23andme-research/the-african-genetics-project/">African Genetics Project</a> last year. By adding new African reference populations, we will be able to return more precise results to customers with African ancestry. We plan to do similar work with other understudied populations around the world.
Changes to our genotyping chip will also help with this work. 23andMe periodically updates the chip we use for genotyping. We do this to take advantage of improvements in technology, to update the kind of information we can offer customers, and to offer flexibility for future research. This newest chip — our fifth version, hence the name v5 — is an Illumina<a href="http://cts.businesswire.com/ct/CT?id=smartlink&#038;url=http%3A%2F%2Fwww.illumina.com%2Fglobalscreeningarray&#038;esheet=51363623&#038;newsitemid=20160616005665&#038;lan=en-US&#038;anchor=Infinium%C2%AE+Global+Screening+Array&#038;index=2&#038;md5=29b7081699c1fde5cc84559e32a3ca42"> Infinium® Global Screening Array</a> supplemented with ~50,000 SNPs of custom content. This array was specifically designed to better capture global genetic diversity and to help standardize the platform for genetic research.
Ancestry Composition is a great tool that promises to keep getting better, so if you haven’t had a look lately <a href="https://www.23andme.com/dna-ancestry/">check it out</a>. You can read more about the science behind all this by looking at this white paper on<a href="https://www.23andme.com/ancestry-composition-guide/"> Ancestry Composition</a>.

23andMe revs up Ancestry Composition feature

If you haven&#8217;t seen it yet, take a moment to watch Amanda and Katey&#8217;s story that aired on Megan Kelly Today. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-25869" src="https://blog-api.23andme.com/wp-content/uploads/2017/11/The-twins-as-little-girls-1-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/11/The-twins-as-little-girls-1-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/11/The-twins-as-little-girls-1.jpg 600w" sizes="auto, (max-width: 300px) 100vw, 300px" />
It is stunning.
Born in Seoul South Korea, Katey and Amanda are identical twins adopted separately by families in the United States.
Amanda always knew she had a sister out there, but Katey never knew until the two found each other using 23andMe.
Amanda, who grew up in California and eventually joined the Navy, first used 23andMe four years ago. Because she didn’t have any family medical history, she took the test hoping to find out a little bit about her health. Amanda knew she also had a twin sister out there, but there were no close matches when she took her test.
Meanwhile, Katey, who grew up in Arizona but eventually settled in California, tested earlier this year. For Katey, who had no idea she even had a sister let alone a twin sister, the test was something she was doing with her family. She wanted to compare results, and her mom told her it’d be a great way to “learn a little about yourself.” But when they all opened their results the first thing that Katey saw was a match with an identical twin. There was even a photo of Amanda.
But at first, Katey thought she didn’t look anything like Amanda.” Amanda’s in the military, while she is into makeup and hair and being an LA girl, she said. But then she looked at other photos of her newfound twin, and it was like she saw herself in a different parallel universe.
“It was so odd looking at these pictures of ‘me, ’ and yet I did not know any of the other people or places in (those pictures),” she said.
Amanda had some of those same feelings, she said.
&#8220;I was excited and in disbelief but I knew I had a twin out there,” said Amanda. “For Katey, this is a total surprise.&#8221;
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