Total strangers, John and Rhonda have one thing in common, the same father.<img loading="lazy" decoding="async" class="alignright wp-image-23484 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/JR-quote-300x169.jpg" alt="J$R quote" width="300" height="169" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/01/JR-quote-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/01/JR-quote-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/01/JR-quote-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/01/JR-quote-980x553.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2016/01/JR-quote.jpg 984w" sizes="auto, (max-width: 300px) 100vw, 300px" />


The two made that discovery earlier this year after using 23andMe.


“Nobody knew about John,” said Rhonda, a 55 year-old marketer in Buffalo New York.


For John, recently retired and 67 who also lives in the Buffalo area, DNA testing was the only way he would have ever found Rhonda and information about his biological father. For both of them the test helped lead them to clues about their father and a tangled history of multiple families and an ongoing search for siblings spread out through generations and geography.
“I now have a printed family tree that  takes three trees to show and is  so long, it covers the top of two long tables,” said John. “(Testing has) been a positive experience for me and a healing experience for the family. I&#8217;ve been welcomed with open arms.”


Being orphaned, along with his half brother, from his single mom when he was just 10 had been so traumatic for John, that he blanked out all the memory of his childhood. He couldn’t even remember his mother’s face until a few years ago when he saw a photo of her for the first time. That had been out of sheer luck, after a mutual acquaintance connected him to his cousin and elderly aunt. John believes it may have been more than luck with a little help from his mother, watching from above.
It was his aunt and cousins who had the photo and tidbits about his mother. John and his family enjoyed a series of reunions in the US and in Italy over the past 5 years. His aunt also shared with John the one bit of information she had about his biological father, his father’s first name.
<div id="attachment_23482" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23482" class="size-thumbnail wp-image-23482" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/John-Vitale-200x200.jpg" alt="John Vitale" width="200" height="200" />John Vitale</div>
“There is no way I could have identified the family on my father&#8217;s side,” he said. “All I had to go on was his name was Marvin, and I only learned that a couple of years ago.”


But for both John and Rhonda using 23andMe to explore their ancestry changed not just what they knew about their families and their background, but their understanding about themselves.
John had thought he was Italian, but was “shocked” to learn he was half Ashkenazi Jew on his father’s side.


“I knew nothing about my father, I assumed he was Italian,” said John. “My mother&#8217;s family is Italian with roots in Sicily and Milan.   I was raised Catholic.”
Learning about his Jewish ancestry, didn’t change his beliefs, but it did change his perceptions.


“It has made me more sensitive and curious of the Jewish faith,” he said.


For Rhonda, who was raised by a Jewish mother, learning about about her biological mother’s Catholic background put certain things about herself in context. It also raised a lot of “nature versus nurture issues” for her.


“I grew up as an only child, in a family that I was very different from,” she said. “I look nothing like, or act nothing like, my adopted mother or father.”


And then there was the connection she made using 23andMe to her biological family for the first time – not just to John, but also to a full sister named Trisha.
That connection with her sister was so strong that Rhonda wonders if there’s a chance that they might actually be twins separated and adopted out to different families.


“When I met Trisha, it felt like I was talking to myself,” Rhonda said. “The similarities were astounding.”


23andMe also helped Rhonda connect with her oldest living half-sibling, who is unrelated to John. She was one of the 2 children born to her mother when her mother was in an internment camp in Germany. It was that woman, Danuta, who gave Rhonda much of what she knows about her mother, including her mother’s history with Marvin and the other children she bore him.
<div id="attachment_23483" style="width: 210px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23483" class="size-thumbnail wp-image-23483" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/rhoried-pic-200x200.jpg" alt="Rhonda Ried" width="200" height="200" />Rhonda Ried</div>
All of Rhonda’s full siblings were adopted by other families, she said. At least two of whom she’s connected with through 23andMe. Rhonda discovered she has 5 full siblings and 6 half siblings, including John. And there could be more, she said.
Now both Rhonda and John are hoping that they will be able to connect with other siblings. They are aware of two sisters in Arizona.


“We are becoming acquainted with members of the family living around the country,” John said.


They have scheduled a virtual family reunion on Skype in a few weeks, but their search continues.


“I fully expect we’ll find others,” said John. “We’ll just keep looking.”

23andMe Blog

23andMe Blog Team

Nobody Knew

Researchers often say it’s their love of science that drives their work, but for Eric Minikel and Sonia <img loading="lazy" decoding="async" class="alignright size-full wp-image-23490" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/Eric-Sonia-in-the-Lab.jpg" alt="Eric &amp; Sonia in the Lab" width="261" height="213" />Vallabh it’s their love that propels the science.
The married couple – both are researchers at the Broad Institute and are completing their doctorates at Harvard Medical School – helped to co-author <a href="http://stm.sciencemag.org/content/8/322/322ra9.full" target="_blank" rel="noopener noreferrer">a new paper</a> looking at the genetic risk for developing prion disease, a rare but devastating condition that hits the nervous system, impairs brain function, triggers other neurodegenerative symptoms such as memory loss and insomnia, and ultimately causes death. It’s triggered when a protein misfolds causing clumping in brain tissue, typically manifesting itself around the age of 50.
<h2>It&#8217;s Personal</h2>
For Eric and Sonia this research is personal, as Eric movingly writes in <a href="http://www.cureffi.org/2016/01/20/does-this-mean-ill-definitely-get-the-disease/" target="_blank" rel="noopener noreferrer">this blog post</a>.
About five years ago, not long after they married, their lives took a sharp turn when Sonia’s mother died at 52. It was only after her mother passed away that Sonia and Eric learned about what killed her – Fatal Familial Insomnia, a form of prion disease. Soon thereafter, Sonia learned that she inherited a genetic mutation, putting her at a very high risk for the disease.
In response, first Sonia, who’d recently graduated from law school at Harvard, and then Eric, a city planner and software engineer, made career changes, dedicating their lives to finding a cure for prion disease. They started working at a lab at Massachusetts General Hospital, took night courses and eventually were accepted at Harvard Medical School. They now work in the Stuart L. Schreiber Research Laboratory at the Broad Institute of MIT and Harvard.
<div id="attachment_23491" style="width: 230px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23491" class="wp-image-23491 size-full" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/Sonia-in-the-Lab.jpg" alt="Sonia in the Lab" width="220" height="209" />Sonia working in the lab.</div>
Even before this paper they made an impact. A few years ago, the couple formed the non-profit<a href="http://www.prionalliance.org/"> Prion Alliance</a> and Eric started the blog<a href="http://www.cureffi.org/"> CureFFI</a>, which is a great resource for information about research into prion disease. It also catalogues his education in the science and what motivates him.
<h2>Recognition for their Work and Story</h2>
Their story has been featured in both the<a href="http://www.theatlantic.com/health/archive/2015/02/insomnia-that-kills/384841/"> Atlantic</a> and the<a href="https://www.newyorker.com/books/page-turner/a-prion-love-story"> New Yorker</a>. A joint presentation they did at the American Society of Human Genetics focused on citizen science and<a href="https://www.youtube.com/watch?v=d9d_8SzXfIc"> crowdsourcing for scientific research</a>.
More recently, Eric<a href="http://www.cell.com/ajhg/abstract/S0002-9297%2814%2900386-3"> developed a statistical method</a> that refuted previous studies suggesting that in families with inherited prion disease, the disease will manifest itself as much as 14 years earlier with each generation. If true that would have been devastating for Sonia, who turned 31 in 2015. However, Eric’s findings also highlight problems with research into other rare diseases, which can suffer from a lack of data or selection bias because the data comes from within the disease communities they study.
The research for this paper – which draws in part from data provided by 23andMe and Exome Aggregation Consortium data from the Broad – is important because it changes assumptions about the risks associated with some of the more than 60 mutations in the PRNP gene that are thought to confer risk for prion disease. In  another recently published paper, Harvard&#8217;s Robert Green points out that Eric and Sonia&#8217;s work doesn&#8217;t just shed light on prion; it also highlights the power of sharing genetic data:
&#8220;The story of this research stands as a testament to the generosity of unrequited data sharing from thousands of individuals and scientists around the globe and to the unflinching devotion of a young couple to alter their seemingly unalterable genetic destiny,&#8221; Green writes.
<h2>Real Progress</h2>
The study began with the observation that variants in the PRNP gene that have been reported to cause prion disease are at least 30 times more common than expected in the general population. Up until now, many doctors have assumed that all those mutations were associated with a 100 percent risk of developing the disease. However, if all of these mutations were “completely penetrant,” or 100 percent disease-causing, then the number of people developing the disease each year would have to be much higher than what is seen in clinics worldwide. This discrepancy suggested to the researchers that some of these variants could have “incomplete penetrance” or may even have no impact on the disease risk.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23502" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/eric-sonia-in-lab-300x177.jpg" alt="eric-sonia-in-lab" width="300" height="177" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/01/eric-sonia-in-lab-300x177.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/01/eric-sonia-in-lab-768x453.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/01/eric-sonia-in-lab.jpg 800w" sizes="auto, (max-width: 300px) 100vw, 300px" />
By comparing the frequency of individual variants in prion disease patients versus the general population, the team found that the variants previously reported to cause prion disease aren’t all created equal — they actually form a spectrum of risk. At one end, some mutations previously reported as disease-causing appear benign, meaning that they do not increase the risk of prion disease above the baseline risk in the general population.
<h2>Variants with Different Risk</h2>
On the other end, some mutations really do convey a very high risk, upwards of 80-to-90 percent, of developing disease in one’s lifetime. In between, some variants appear to convey an intermediate lifetime risk of, for example, 0.1 or 10 percent. Then, there were some variants for which the data was insufficient to draw conclusions.
According to the researchers, this is great news for some individuals who carry variants that now appear to be low-risk.
“Through our relationship in the patient community, we have met people with several of the mutations that we now believe are low-risk or benign. Some of those people had been told they had a very high risk of disease, so our work changes their prognosis,” said Eric.
Unfortunately, Sonia’s mutation, D178N, isn’t one of those that is low-risk. The new research confirms that the mutation she carries—along with mutations that many others carry—confers a near 100 percent risk for developing prion disease.
“Our work doesn&#8217;t change the prognosis for most patients with genetic prion disease,” said Eric. “Only a minority of them.”
Although it doesn’t directly change Sonia’s prognosis, the new study may help develop drugs to treat prion disease. The study found that a few reduce the prion protein&#8217;s function among the benign mutations. Because carriers of these so-called &#8220;loss-of-function&#8221; mutations are apparently healthy, it suggests that developing drugs that work against the protein may be safe. Eric and Sonia are now working on developing molecules to do just that, and they can move in that direction more confidently.
<h2>Love and Science</h2>
In the context of prion disease, this study positively impacts the prognosis for a few hundred individuals worldwide while providing validation for a therapeutic strategy that may offer hope more broadly to patients and families affected by prion disease.
The researchers said that, more generally, the study also highlights the value of large reference datasets like 23andMe’s and Broad&#8217;s.
For this study, researchers used exome data from 60,000 people collected by the Broad Institute from a large international consortium and genotypic data from more than 530,000 23andMe customers who consented to research. Excitingly, as datasets of this size continue to grow, so will their power to expand and refine our understanding of human disease.
In the couple profile that appeared in the New Yorker in 2014, the writer quotes from an email he received from Sonia trying to describe her relationship with Eric.
“I thought when I married him that I could never love anyone more than I did that day. But I was wrong,” she said. “We are in a new dimension of partnership now, and I am more in love and, frankly, more in awe of him with every day we spend together. His brain is outstandingly powerful, and I see things I would never have known he was capable of in any other way. He was meant to do this work, and the world will be better for it.”
Love might not conquer all, but Eric and Sonia’s work points to what it can do when fueling the work of two brilliant minds.

Quantifying genetic risk of prion disease

A recently published study by scientists at Australia’s QIMR Berghofer Medical Research Institute could have a significant <img loading="lazy" decoding="async" class="alignright wp-image-23476 size-full" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/GERD.jpg" alt="GERD" width="250" height="269" />impact on the study of esophageal adenocarcinoma, a rare but lethal form of cancer.


Along with esophageal cancer,<a href="http://hmg.oxfordjournals.org/content/early/2016/01/06/hmg.ddv512.full?sid=3ccc54db-4b9c-4e50-a93c-1bf97bc3da3b#aff-1"> the study</a> looked at two other conditions that often are overlapping or related – gastroesophageal reflux disease, known more commonly as GERD, and Barrett’s esophagus. GERD is characterized by food and stomach acid flowing back up into the food pipe. Barrett’s esophagus is a complication caused by GERD in which the tissue lining the esophagus changes to resemble the lining of the intestines.
Both GERD and Barrett’s esophagus are considered key risk factors for developing esophageal cancer.
Lead by Puya Gharahkhani and Stuart Macgregor, at the QIMR Berghofer Medical Research Institute in Australia, the new study offers the first evidence for a polygenic basis for GERD, the researchers said.
The research also for the first time found evidence for an overlap in the genetic variants associated with all three conditions. The overlap appears to involve a large number of variants with a small effect size rather than a small number of variants with large effects. The identification of a shared genetic background for GERD, Barrett’s esophagus, and esophageal cancer may have clinical implications for finding treatments for these diseases.

Along with work from 23andMe scientists and data from more than 50,000 23andMe customers who consented to research, the study included data and contributions from researchers at VU University Amsterdam in the Netherlands, the<a href="http://beacon.tlvnet.net/"> Barrett’s and Esophageal Adenocarcinoma Consortium</a>, and the Fred Hutchinson Cancer Research Center in Seattle.
The study included more than 8,000 23andMe customers with GERD, who consented to research and another 43,000 without the condition who were used as controls and also consented to research.
The condition is the strongest known risk factor for esophageal cancer. Although this form of cancer is rare – a lifetime risk of less than 1 percent for the general population – it has a very high mortality rate with fewer than 20 percent of those diagnosed surviving longer than five years. Because both GERD and Barrett’s are indicators for this deadly cancer, better understanding of the conditions and how they may overlap could lead to new insights into the condition and ultimately new therapies.
Although previous studies have found a handful of genetic variants associated with both esophageal cancer and Barrett’s esophagus, up until now researchers have not been able to find variants associated with GERD.
This is the first time researchers have shown a polygenic association with GERD, finding that the top 1 percent of genetic variants associated with GERD in one research cohort could be used collectively to predict the risk of GERD among another cohort, even though no individual variant could be definitively associated with GERD.


The researchers in this study believe that their work shows that combining data from these three conditions – GERD, Barrett’s esophagus, and esophageal cancer – in larger numbers will ultimately help identify specific genetic variants associated with these conditions. Ultimately they hope that this research could lead to breakthroughs and new treatments for three overlapping conditions.

The genetics of esophageal cancer and GERD

Abandoned as an infant in a Minneapolis laundry room almost 50 years ago, Liz Kellner used 23andMe to help <img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-21929" src="https://blog-api.23andme.com/wp-content/uploads/2014/11/Liz-Quote-200x200.jpg" alt="Liz Quote" width="200" height="200" />her piece together the story of her birth.
In the process, she was able to connect with a biological sister, Tammy, who like her had been abandoned as an infant; the sisters have pieced together their stories, connected with other siblings and even found their biological parents.


We first <a href="https://blog.23andme.com/ancestry/putting-it-together/">wrote about Liz</a> two years ago, and a few days ago, ABC News covered Liz and Tammy’s story.
Their story was also recently covered by the <a href="http://www.twincities.com/localnews/ci_29002587/woman-left-baby-at-st-paul-hospital-finds" target="_blank" rel="noopener noreferrer">Pioneer Press</a>. You can check out the ABC News piece below.
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<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/thFNeUTh_iw" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

Sisters Connecting After 50 Years

We might not give Neanderthals much respect, but modern humans probably owe our <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23459" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/Neanderthal-Image-247x300.jpg" alt="Neanderthal Image" width="247" height="300" />survival, at least in part, to our now-extinct short and burly ancient cousins.
A<a href="http://www.cell.com/ajhg/abstract/S0002-9297%2815%2900486-3"> new study</a> by scientists at the<a href="http://www.mpg.de/9819763/neanderthal-genes-immune-system"> Max Planck Institute for Evolutionary Anthropology</a> – the same team that just a few years ago<a href="https://www.nature.com/nature/journal/v505/n7481/full/nature12886.html"> first sequenced a Neanderthal genome</a> – found that when modern humans emerged out of Africa and intermixed with Neanderthals perhaps 60,000 years ago, it gave us an evolutionary advantage to survive and thrive.
After all, Neanderthals had 200,000 years to adapt and flourish outside of Africa before modern humans met up with them, so intermixing may have given a genetic leg up to modern humans adapting to the new environment they encountered in their migrations.
This is not the first time that scientists have discussed the evolutionary advantage  – termed<a href="https://www.nature.com/news/2011/110809/full/476136a.html"> “hybrid vigor”</a> – imparted by Neanderthals to modern humans. But it is the first time specific genetic contributions from Neanderthals have been found and tied directly to an evolutionary advantage. Two years ago researchers at University of California Berkeley showed that another archaic human cousin, the Denisovan, may have given Tibetans a<a href="https://www.nature.com/nature/journal/v512/n7513/full/nature13408.html"> genetic adaptation</a> for living at high altitudes.


In this new paper on Neanderthal,   researchers found that changes in the Toll-like receptor (TLR) genes – genes involved in how we respond to to such things as bacteria, fungi and parasites – may have given modern humans the ability to withstand some of the exposures they would have encountered in their new environments.


&#8220;What has emerged from our study as well as from other work on introgression is that interbreeding with archaic humans does indeed have functional implications for modern humans,” Kelso said. “And that the most obvious consequences have been in shaping our adaptation to our environment &#8211; improving how we resist pathogens and metabolize novel foods.&#8221;


But there was a cost to this advantage. While these genetic variants may have helped boost humans ability to withstand certain pathogens and bacteria, they may have also left modern humans with an overactive immune system making them more susceptible to asthma and allergies.


In a study done by<a href="https://www.nature.com/ng/journal/v45/n8/full/ng.2686.html"> researchers here at 23andMe</a>, variants in the same three genes identified in these two studies – TLR1, TLR6, and TLR10– are also associated with asthma, hay fever and other allergies. Researchers here at 23andMe have also looked at how Neanderthal variants influence certain common traits like hair curl, back hair and height. (23andMe offers customers a Neanderthal report, showing them what variants are of Neanderthal origin, what traits they may influence, and how they compare to others.)

<div style="float: right; text-align: justified; width: 250px; background-color: #eee; padding: 15px; margin-left: 10px;">
More on Neanderthals
<ul>
<li><a href="https://blog.23andme.com/news/meeting-at-the-crossroads/">Meeting at the Crossroads</a></li>
<li><a href="https://blog.23andme.com/news/dem-bones/">Dem Bones</a></li>
<li><a href="https://blog.23andme.com/news/neanderthal-fade-away/">Neanderthal Fade Away</a></li>
</ul>
</div>

23andMe population geneticist Ivan Juric, who previously worked at Graham Coop’s lab at the University of California, Davis, said <a href="http://biorxiv.org/content/early/2015/11/21/030148">  his research there</a> suggests that on average, selection was working against Neanderthal ancestry in modern humans.
His yet-to-be published research and the work of <a href="http://biorxiv.org/content/early/2015/10/31/030387">Kelly Harris and Rasmus Nielsen</a>, also in pre-publication review, suggest that early human-Neanderthal hybrids might have been strongly selected against. This doesn’t mean that all the Neanderthal variants in humans are deleterious, as shown in the new research regarding the TLR genes.


This all adds to our understanding of human history and evolution, about why modern humans survived and Neanderthals and Denisovans didn’t, and it may give us insight into certain conditions and traits we still carry today.

The Neanderthal Advantage

It’s been a perennial problem –biomedical research that largely leaves behind<img loading="lazy" decoding="async" class="alignright size-full wp-image-9756" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/diversityiStockBlog.jpg" alt="diversity(iStockBlog)" width="300" height="199" /> women and people with non-European ancestry.


A newly <a href="http://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1001918">published study</a> by researchers at the University of California San Francisco found that despite efforts to recruit in under represented communities in the United States there continues to be huge disparity in research among African Americans, Latinos and Asians. (In a separate but related issue there is also <a href="https://www.nature.com/news/racial-bias-continues-to-haunt-nih-grants-1.18807">a huge disparity</a> in research grants awarded to minority scientists.)


There are many reasons for the lack of diversity – historical, cultural, economic and social – but whatever the reason the dearth in research among non-European populations undercuts the effectiveness of the science and the effectiveness of certain treatments.


We know that a person’s gender and ancestry plays a role in their risks for certain conditions. For instance the risk for type-2 diabetes and prostate cancer is much <a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0032840">higher in African American men</a>, but there is not yet enough research that includes African Americans in enough numbers to offer to fully understand why that is.
You can see similar problems in research around the risk for breast cancer in women of different ancestry. We know a lot about the risks among women of European ancestry because of research, but less about the risks among African American women.


In the hopes of improving our own research, 23andMe launched <a href="https://www.23andme.com/roots/">“Roots into the Future,”</a> specifically to recruit 10,000 African Americans interested in participating in research.
That effort has helped 23andMe improve the diversity of our own research cohorts. It has also improved the kind of results we can report back to customers.
23andMe has succeeded in attracting a diverse group of customers who want to participate in research, but we could do more.

Needed Diversity in Research

The new customer experience at 23andMe is about more than just our new look; it&#8217;s also about new features.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23437" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/Biology-Detail-202x300.jpg" alt="Biology Detail" width="202" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/01/Biology-Detail-202x300.jpg 202w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Biology-Detail.jpg 534w" sizes="auto, (max-width: 202px) 100vw, 202px" />
Among those new features are our new <a href="https://www.23andme.com/service/#trait-report-list">Trait Reports</a>. These reports can be a fun way to learn how your genetics influence such things as the color of your eyes, whether you’ve got dimples, and if you have a sweet tooth.
But when designing these reports, we also wanted to illustrate that it’s not just your genetics that determines these traits, but other factors as well.  What’s also useful about these reports is that they can tell you how similar or unique you are when compared to the rest of 23andMe’s customers.
The concept behind how we report the Trait results is fairly simple.
To start with, each report is based on specific genetic markers associated with that particular trait. (Customers can read more about how we determine which markers to use in the <a href="https://you.23andme.com/reports/trait.facial_features/details/#assessment-trait-methodology-trait-methodology-facial-features">Scientific Details</a>.) Then, the analysis using these markers is summarized at the top of each report.
As one example, consider the report on <a href="https://www.23andme.com/topics/traits/eye-color">eye color</a>. This report is based on a single genetic marker, , that plays a large role in determining eye color. At this marker, your genotype could be  either AA, AG, or GG. If you have an AG, 23andMe analyzes the data from 23andMe research participants who also have an AG, and in the left ring chart shows the percentage of those people who have brown, hazel, green, or blue eyes. In other words, the left ring chart is the eye-color breakdown of research participants who have your same genotype at this marker and have answered the eye-color survey question.

<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-23436" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/Eye-Color-300x226.jpg" alt="Eye Color" width="300" height="226" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color-300x226.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color-768x580.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color-1024x773.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color-880x664.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/01/Eye-Color.jpg 1028w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Each Trait result has three components:

1) The ring chart on the left shows how common the trait is in customers who have the same genotype as you at specific genetic markers. (If you are already a customer you can read more about how we determine which genetic markers to use <a href="https://you.23andme.com/reports/trait.facial_features/details/#assessment-trait-methodology-trait-methodology-facial-features">here</a>.)

2) The ring chart on the right shows how common that trait is overall in 23andMe customers, regardless of genetics.
3) The result headline at the top predicts whether you are likely to have the trait, and how that compares to other customers with your genotype. This summary is based on the sum of percentages from the left ring chart.
</div>

The ring chart on the right isn’t about genetics at all – it just shows how common each eye color is in 23andMe customers. You can compare your prediction to the breakdown across other customers to see how similar or different your genetic prediction is from what would typically be expected for the average customer.
To report your likely eye color at the top of the report, we first group the eye colors into two main categories – “Light-colored” and “Dark-colored”. Then, if more than 50 percent of people who share your genotype have dark-colored eyes, your report would say, “You are likely to have dark-colored eyes.”

<h5>
&#8220;What if my result doesn&#8217;t match my actual trait?&#8221; 
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Most human traits are complex, meaning they are not determined by a single factor. Even when we find genetic factors that have a large effect on a trait, they still explain only a portion of it. This means that we can only determine the likelihood of having that trait.  That means there is still the chance of not having that trait.
We see this in the data from our customers: out of the 23andMe research participants we looked at who have an  “AG” at , around 35 percent  have light eyes and 65 percent  have dark eyes. So for about 35 percent of customers with reports that state that they “are likely to have dark eyes,” they actually have light-colored eyes. But for some genotypes, the prediction is much stronger. For example, someone with a “GG” genotype has a 97 percent chance of having light eyes. Still not 100 percent, but much more likely.


Many other factors influence eye color, including your ancestry, other genes, and other non-genetic factors. The same goes for all of the other traits in our reports, too. That&#8217;s why we also include a section in each report that talks about some of these other factors. The results are based only on specific genetic factors that we know about now, but our predictions may get better as we learn more. And your participation in surveys will help us do this by providing more and more data to work with going forward.
Trait Reports and the 23andMe research behind some of them are about more than just fun facts.
Typically there isn’t research money to support studies into the genetic basis of “<a href="https://www.23andme.com/topics/traits/cleft-chin/">having a cleft chin</a>,&#8221; or other seemingly inconsequential features, even though some of this research could potentially shed light on broader questions about human development and health.  Aside from 23andMe, there are very few large-scale studies about these kinds of traits.
The only reason we are able to do this research is because we have the right quality and quantity of data –  thanks to our customers who participate in research.
23andMe is extremely grateful for the generosity of our customers in sharing information about themselves. In the future, we hope to apply what we&#8217;re learning about traits to other aspects of our product, especially those concerning health and disease risk.
We couldn&#8217;t do it without you!
<img loading="lazy" decoding="async" class="alignnone wp-image-23439 size-large" src="https://blog-api.23andme.com/wp-content/uploads/2016/01/About-Eye-Color-640x381.jpg" alt="About Eye Color" width="640" height="381" />

The New 23andMe Experience: A Look at Our Trait Reports

If you don’t know who Evelyn Witkins is perhaps you should.
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<div id="attachment_23398" style="width: 258px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23398" class="size-medium wp-image-23398" src="https://blog-api.23andme.com/wp-content/uploads/2015/12/2015winner_img_witkin-248x300.jpg" alt="Evelyn Witkin." width="248" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/12/2015winner_img_witkin-248x300.jpg 248w, https://blogcms.23andme.com/wp-content/uploads/2015/12/2015winner_img_witkin.jpg 622w" sizes="auto, (max-width: 248px) 100vw, 248px" />Evelyn Witkin.</div>
A legendary figure in genetic science, the 94 year-old professor emerita at Rutgers University was awarded in September a Lasker Prize for Basic Medical Research, sometimes referred to as “America’s Nobel.”
We here at the blog neglected to make note of the award that Witkins shares with fellow scientist <a href="http://researchfaculty.brighamandwomens.org/BRIProfile.aspx?id=3197">Stephen Elledge</a> of Brigham Women Hospital, for their separate discoveries around the “DNA-damage response” – a mechanism that protects DNA against the onslaught of everyday life, whether by chemical, biological or other environmental exposures.

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Witkins began her work in the early 1940s at Cold Spring Harbor looking at genetic mutations in bacteria.
When she eventually moved from Cold Spring Harbor to Rutgers, she continued to do genetics research with bacteria and studied how DNA responded to UV radiation. This led her to her work on DNA repair and what she later identified as the DNA-damage response, which was the first “coordinated cellular stress response to be elucidated.”


Stephen Elledge built on that early work first studying the DNA damage response in yeast but moving onto studying this response in human cells and the role it plays in the development of cancer and degenerative disorders.


In <a href="https://www.nytimes.com/2015/12/15/science/evelyn-witkin-and-the-road-to-dna-enlightenment.html?ref=health">an interview</a> with the New York Times, Witkins described her time at Cold Spring Harbor, as a magical time in genetics. Her love of science also comes through in the interview particularly when she described the day she attended the first demonstration on how the genetic code worked, and then later that evening going to a performance of Handel’s “Messiah.”
“I tell you I had the same feeling of exultation that I had in that talk about the genetic code,” she said.

Long Overdue Recognition

Starting in January with the launch of the ambitious Precision Medicine Initiative in the United States, 2015 finished with a <img loading="lazy" decoding="async" class="alignright size-medium wp-image-23080" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-300x158.jpg" alt="ChromoShareButton" width="300" height="158" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-300x158.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-768x403.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-1024x538.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-880x462.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton-1180x620.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2015/10/ChromoShareButton.jpg 1200w" sizes="auto, (max-width: 300px) 100vw, 300px" />heated debate around the appropriate use of technology that allows scientists to edit the human genome.
Those two big stories bookended the year showing both the promise and peril of genetics.
2015 triggered  a furious pace in new <a href="https://www.23andme.com/dna-health-ancestry/">genetic insights</a> with all the potential they hold. But with many of these advances comes the weight of new issues to tackle as well. As we head into 2016, we’re taking a moment to look back at some of the highlights of the year including 23andMe’s contributions to the science and discussion around genetics.
<h4></h4>
<h2>Transforming Medical Research<img loading="lazy" decoding="async" class="alignright size-full wp-image-23384" src="https://blog-api.23andme.com/wp-content/uploads/2015/12/Precision-Medicine-Initiative.jpg" alt="Precision Medicine Initiative" width="200" height="125" /></h2>
The Precision Medicine Initiative announced by President Obama in January could help change the face of medicine forever. The effort to sequence a million Americans will depend on the willingness of people to participate in research meant to, as Obama said, &#8220;bring us closer to curing diseases like cancer and diabetes, and to give all of us access to the personalized information we need to keep ourselves and our families healthier.&#8221; It’s the kind of people-powered research model that 23andMe pioneered; one that is about more than just collecting data, but depends on empowering consumers and engaging them in their own health.
<h2>A Banner Year for 23andMe</h2>
While it wasn’t a scientific breakthrough,<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22990" src="https://blog-api.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-228x300.jpg" alt="anne-wojcicki-cover" width="228" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-228x300.jpg 228w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-768x1008.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-780x1024.jpg 780w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-670x880.jpg 670w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover-899x1180.jpg 899w, https://blogcms.23andme.com/wp-content/uploads/2015/10/anne-wojcicki-cover.jpg 1000w" sizes="auto, (max-width: 228px) 100vw, 228px" />syndrome carrier status report was a huge step for direct-to-consumer health testing in general. It was the first time the US regulatory agency gave such authorization, and it’s laid the groundwork for how to return actionable health results to consumers in a regulated environment. It also was a highpoint in a long list of highpoints for 23andMe, that included launching a <a href="https://www.forbes.com/sites/matthewherper/2015/03/12/23andme-enters-the-drug-business-just-as-apple-changes-it/">Therapeutics group</a> and introducing a newly imagined product experience for customers that included health, ancestry and traits reports and the first-ever genetic test with reports that meet FDA standards.
<h2>The People of the British Isles</h2>
History can be found in our DNA, and new research by scientists at Oxford University found distinctive regional differences in the tight confines of the British Isles. The study, led by Sir Walter Bodmer, also found that there is no single “Celtic” genetic group. Instead the study found that people in the Celtic regions of the UK – Scotland, Northern Ireland, Wales and Cornwall – are among the most genetically diverse in all the United Kingdom. In addition, the researchers estimate that the genetic contributions from Anglo-Saxon migrations – Germanic people who came into the coastal lowlands of the British Isles in the 5th and 6th centuries– to be just under half among people in the south east of England. As with studies done by 23andMe looking at African ancestry in the United States, this fine scale genetic map of the British Isles illuminates historical patterns of migration and distinct regional differences. It even reveals clusters of populations that show similar geographic locations of tribal groupings and kingdoms dating back to the 6th century.
<h2>That Dress</h2>
<div id="attachment_22322" style="width: 208px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22322" class="size-medium wp-image-22322" src="https://blog-api.23andme.com/wp-content/uploads/2015/03/The-Dress-198x300.jpg" alt="IMAGE: TUMBLR / SWIKED" width="198" height="300" />IMAGE: TUMBLR / SWIKED</div>
Scientists at 23andMe ask a lot of questions. It’s their job, and it informs the kind of innovative research 23andMe pioneered. The information we get from people who participate in research is combined with genetic information that feeds into 23andMe’s powerful and novel research model. It’s allowed our scientists to quickly find genetic insights related to human traits, inheritance and disease. A great recent illustration of that came earlier this spring when 23andMe computational biologist Fah Sathirapongsasuti, PhD, tapped into the flurry of conversation created by The Striped Dress, where people saw distinctly different colors: blue and black, or white and gold. In a matter of a few days 23andMe was able to survey about 25,000 customers interested in participating in the study, and make some interesting findings. While there was no clear genetic association, Fah found a small effect size in a gene associated with light perception – ANO6. But it was non-genetic factors – namely a person’s age – that seemed to play the biggest role in why some people saw one pair of colors and others saw something else.
<h2>Got Lactase?</h2>
Nutrient-rich with plenty of vitamin D for the sun-starved in Northern Europe, milk was a kind of superfood of the Bronze Age. But new research published in the spring indicates that it took awhile before Europeans could digest milk, and that trait appears to have been introduced by the Yamnaya, a group of people who migrated into Northern Europe from an area near the Altai Mountains in what is now central Russia.
You can read more<a href="https://blog.23andme.com/health-traits/23andmoo/"> here</a>.
<h2>A Little Buggy</h2>
Some people are just tastier to mosquitoes than others, and that has to do with genetics, according to<a href="http://www.lshtm.ac.uk/newsevents/news/2015/twins_mosquito_study.html"> a twin study</a> done by researchers at the London School of Hygiene &amp; Tropical Medicine. Understanding these differences could help in fighting the spread of devastating mosquito born illnesses like malaria and dengue fever.
<h2>Optimism about Research into Depression</h2>
For the first time ever researchers identified two genetic variants associated with major depressive disorder. In a study published in<a href="https://www.nature.com/news/first-robust-genetic-links-to-depression-emerge-1.17979?WT.mc_id=TWT_NatureNews"> Nature</a> over the summer, scientists at University of Oxford found the genetic variants and were able to replicate their findings. Although previous studies have found genetic associations, unlike with these findings those failed to stand up to further scrutiny. One of the variants identified in this study is near the gene SIRT1, which plays a role in mitochondria, the energy producing organelles of the cell. The findings may help identify drug targets to better treat depression, which affects more than 350 million people.
<h2>Innovation in Diagnosing Parkinson’s</h2>
A team of researchers has developed a simple, non-invasive approach to<a href="http://www.thelancet.com/journals/laneur/article/PIIS1474-4422%2815%2900178-7/fulltext"> diagnosing people with Parkinson’s disease</a>, an illness that is typically very difficult to detect. The model uses a combination of such things as genetic data, family health information, age, and biomarkers like the ability to smell to make a diagnosis. The researchers believe that with some refinements the tool could help in screening and diagnosing individuals for the condition and help in differentiating Parkinson’s disease from other neurological conditions.
<div id="attachment_22837" style="width: 277px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-22837" class="size-medium wp-image-22837" src="https://blog-api.23andme.com/wp-content/uploads/2015/09/F1.large-1-267x300.jpg" alt="Composite skeleton of Homo nadeli along with other bones found at the Rising Star Cave in South Africa. Photo: Lee Berger, Wits, photographed at Evolutionary Studies Institute" width="267" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-267x300.jpg 267w, https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-768x863.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-911x1024.jpg 911w, https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-783x880.jpg 783w, https://blogcms.23andme.com/wp-content/uploads/2015/09/F1.large-1-1050x1180.jpg 1050w" sizes="auto, (max-width: 267px) 100vw, 267px" />Composite skeleton of Homo nadeli along with other bones found at the Rising Star Cave in South Africa. Photo: Lee Berger, Wits, photographed at Evolutionary Studies Institute</div>
More Cousins
Fossils found in a South African cave could be that of a brand new human ancestor, dubbed<a href="https://blog.23andme.com/ancestry/hello-cousin/"> Homo naledi</a>. The species dates back two million years, and pushes back the age of the genus Homo – which includes modern humans – at least 400,000 years earlier than previously thought.
<h2>Gene Editing</h2>
Few breakthroughs have stimulated more discussion in genetics than the innovative technique to “edit” specific bits of DNA. Called Crispr-Cas9, it offers a simple and quick way of snipping out a sections of DNA and stitching the DNA back together again. In so doing it could be used for all sorts conventional and gene therapies. Yet while the gene editing tool offers intriguing possibilities for “correcting” genetic defects that trigger disease or inherited conditions, it raised huge<a href="https://www.nytimes.com/2015/11/15/magazine/the-crispr-quandary.html"> moral and ethical issues</a>. While the technology has raced ahead, sorting out all the issues it raises has lagged behind. In December scientists from around the world met to discuss the implications in Washington DC and agreed to put a halt to editing of the human genome until clearer lines and standards could be agreed upon although research continues.

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