23andMe announced this week that it would add access to genetic information to ResearchKit, an open source framework introduced by Apple <img loading="lazy" decoding="async" class="alignright wp-image-23714" src="https://blog-api.23andme.com/wp-content/uploads/2016/03/Phone-Iimage-145x300.jpg" alt="Phone Iimage" width="300" height="619" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/03/Phone-Iimage-145x300.jpg 145w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Phone-Iimage-496x1024.jpg 496w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Phone-Iimage-427x880.jpg 427w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Phone-Iimage-572x1180.jpg 572w, https://blogcms.23andme.com/wp-content/uploads/2016/03/Phone-Iimage.jpg 716w" sizes="auto, (max-width: 300px) 100vw, 300px" />that allows researchers and developers to create powerful apps for medical research.
As an update to their existing studies, scientists at <a href="http://apps.icahn.mssm.edu/asthma/" target="_blank" rel="noopener noreferrer">Mount Sinai</a> and <a href="https://med.stanford.edu/myheartcounts/faq.html" target="_blank" rel="noopener noreferrer">Stanford</a> will be the first to use 23andMe&#8217;s module to incorporate genetic information from 23andMe in their research.
It is 23andMe’s first foray in what will likely be many efforts to leverage mobile technology for collecting more than just survey data as we currently do. In this case, it will be used to study asthma and heart disease.


The updated apps developed for the studies also allow 23andMe customers to easily participate after a simple informed consent process. These studies have great potential to uncover new information about asthma and heart disease. But beyond that, they also hint at the potential of integrating mobile technology into ongoing genetic research.
Scientists are already marveling at how smartphones could power this kind of research.
“Phones are always with you,” said Rob Borkowski, Ph.D., 23andMe&#8217;s Platforms Product Manager. “So unlike with a computer, you don’t have to log on and then fill in information about your activity. Your phone can record that kind of information automatically.”


A smart phone can seamlessly track activity, sleep or even the rate of your tapping, said Rob. For researchers, this kind of real-time information could help them follow the progression of an illness, and for patients a smartphone can give them a simple way of recording symptoms as they happen.
<div id="attachment_21761" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-21761" class="wp-image-21761 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2014/10/RobSquare-300x300.jpeg" alt="RobSquare" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-300x300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-150x150.jpeg 150w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-768x768.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-1024x1024.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-880x880.jpeg 880w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-1180x1180.jpeg 1180w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-271x271.jpeg 271w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-372x372.jpeg 372w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-574x574.jpeg 574w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare-980x980.jpeg 980w, https://blogcms.23andme.com/wp-content/uploads/2014/10/RobSquare.jpeg 1925w" sizes="auto, (max-width: 300px) 100vw, 300px" />Rob Borkowski, 23andMe&#8217;s Platforms Product Manager</div>
23andMe&#8217;s unique research platform is centered on engaging easily with customers. It offers people a simple way to participate in research if they wish, while also learning about themselves.
By leveraging online tools, 23andMe&#8217;s platform has already proven that it can accelerate the pace of research.
By integrating the smartphone into that process, it adds another layer of information for researchers to parse. It also makes it that much simpler for people to participate and that much easier for researchers to collect new kinds of data, said Gregory Frank, 23andMe’s director of business development.


Other researchers are already using smartphones to do such things as study the progression of neurodegenerative diseases by tracking changes in how patients click on their phones or gauge differences in the pace of their steps, said Gregory.
Beyond that there is the sheer number of mobile phones, even in undeveloped areas.
This opens up other avenues to find under served communities not just for researchers but for both doctors and patients interested in the delivery of mobile health care. In the short term the availability of mobile phones makes it easier to both participate in research and gather data for research.


As part of this broader effort to leverage mobile technology, 23andMe will allow researchers to broaden their efforts at recruiting not just to current 23andMe customers but enlist new participants through the ResearchKit app. (New participants get a free 23andMe kit as part of the project.) What makes this new feature attractive is that it gives scientists another tool for the sometimes difficult task of recruiting research participants.
It’s a turnkey feature for researchers, and for those who choose to participate they in turn get to contribute to research while also getting access to genetic information about themselves.

23andMe Blog

23andMe Blog Team

Mobile Research at 23andMe

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

Bolstering the theory that modern society’s fixation on cleanliness might actually be hurting the development of healthy immune systems in children, <a href="http://www.sciencemag.org/content/349/6252/1106.full">a new study</a> published this week in the journal Science suggests that exposure to the kinds of <img loading="lazy" decoding="async" class="alignright size-medium wp-image-22620" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/dairy-cow-300x200.jpg" alt="dairy cow" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/dairy-cow-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/06/dairy-cow-768x511.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/06/dairy-cow.jpg 849w" sizes="auto, (max-width: 300px) 100vw, 300px" />bacteria found in the farmyard may actually protect children from allergies, hay fever and asthma.


The development of asthma and allergies is complicated and involves many factors both environmental and <a href="https://blog.23andme.com/23andme-research/new-genetic-associations-found-for-allergies-and-asthma/">genetic</a>. Asthma and allergies, which are strongly linked to each other, are among the most common diseases in the industrialized world. But several studies have shown that in the last few decades there has been a surge in the number of people in developed countries who’ve developed asthma or allergies.
There are many theories offered to explain this surge, one, the “<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841828/">hygiene hypothesis</a>,” suggests that an increasingly sanitized environment inhibits the development of the immune system, making people more prone to allergies and asthma.   Another theory is that increasing exposure to chemicals and pollutants are the culprits.

<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;"><img loading="lazy" decoding="async" class=" wp-image-6151 aligncenter" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/allergy.jpg" alt="allergy" width="250" height="222" /> Allergies of a Feather Flock Together 
People with allergies tend to be allergic to multiple things. Sometimes this makes sense – being allergic to cats and dogs for instance – other times the groupings make you scratch your head. Based on our research survey data, we found that if you are allergic to one insect’s sting, it is more likely that you’ll be allergic to another. But food allergies do not appear to be associated with other kinds of allergies.You can learn more about these associations<a href="https://www.23andme.com/about/factoid/factoid_allergies/" target="_blank" rel="noopener noreferrer"> here</a>.</div>

In the study published in Science researchers looked into why children who grew up on dairy farms appear to be protected from allergies, hay fever and asthma.


In mice, researchers found that low-dose exposure to farm dust triggered an inflammatory response that later protected the mice from developing asthma induced from dust mites. Looking at the biology, the researchers found that the exposure modified a particular enzyme, A20, which is involved in this defensive inflammatory mechanism.
For many with asthma, that enzyme is disabled.
While the new study adds more support for the hygiene hypothesis, the researchers said they still must look at to see if this protective mechanism lasts into adulthood.

Allergies And The Hygiene Hypothesis

Working with researchers from Australia’s<a href="http://www.qimr.edu.au/"> QIMR Berghofer Medical Research Institute</a>, 23andMe scientists completed the first-ever genome-wide association study combining asthma and hay fever phenotypes.
<a href="https://blog-api.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall.jpg"><img loading="lazy" decoding="async" class="alignright size-medium wp-image-5814" alt="inhaler_asthma" src="https://blog-api.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall-300x199.jpg" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />T</a>he susceptibility to both asthma and hay fever are known to often run hand-in-hand. But the study published this week in the<a href="http://www.jacionline.org/article/S0091-6749%2813%2901643-6/fulltext"> Journal of Allergy and Clinical Immunology</a> found 11 genetic variants that are associated with having both conditions.
In addition two of those variants found in the study had never before been associated with any allergic condition. 
<h6>New Associations</h6>
While the nine other genetic variants found in the study had been linked to different allergies in the past, this is the first time those associations were found to be associated with both asthma and hay fever.
“In this first-of-its-kind study, we’ve identified new genetic associations that can provide the means to identify people at risk for allergic disease with greater efficiency,” said David Hinds, Ph.D., study author, and 23andMe Principal Scientist in Statistical Genetics.
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">Allergies of a Feather Flock Together 
People with allergies tend to be allergic to <img loading="lazy" decoding="async" class="alignright wp-image-9185" alt="allergy" src="https://blog-api.23andme.com/wp-content/uploads/2011/06/allergy.jpg" width="139" height="123" />multiple things. Sometimes this makes sense – being allergic to cats and dogs for instance – other times the groupings make you scratch your head. Based on our research survey data, we found that if you are allergic to one insect’s sting, it is more likely that you’ll be allergic to another. But food allergies do not appear to be associated with other kinds of allergies. You can learn more about these associations<a href="https://www.23andme.com/about/factoid/factoid_allergies/" target="_blank" rel="noopener noreferrer"> here</a>.</div>
About one in five American children have a respiratory allergy like<a href="http://health.nytimes.com/health/guides/disease/allergic-rhinitis/overview.html?inline=nyt-classifier"> hay fever</a>, and nearly one in 10 have asthma.
<h6>Serious Illness</h6>
While for many of us, allergic reactions are a mere annoyance, for others they can be life-threatening. We know that both environmental and genetic factors are involved in triggering asthma and allergies. But a deeper understanding of those causes will help in both identifying risks as well as potential treatments.
This new study – led by scientists at QIMR – included data from more than 15,000 23andMe customers who agreed to participate in research. The work also adds to the body of existing research already done by 23andMe on allergies and asthma.
<h6 dir="ltr">More Research</h6>
Last year, 23andMe researchers and scientists from the University of Bristol’s<a href="http://www.bristol.ac.uk/alspac/"> Avon Longitudinal Study of Parents and Children (ALSPAC) i</a>n the UK, completed the largest genome-wide association study ever conducted on common allergies.<a href="https://dx.doi.org/10.1038/ng.2686"> That study</a> included data from more than 53,000 people. It also found new genetic associations for the conditions. The study added to our knowledge of the genetic link between common allergens and a person’s susceptibility to experiencing an allergic reaction
Researchers hope that these studies will improve their ability to detect genetic risk factors for allergies and asthma. In turn, this information can also shed more light on the biological underpinnings for the conditions.

New genetic variants found to influence risk of asthma with hay fever

Each year at this time 23andMe puts together a list of the most interesting genetic findings of 2013. We’re doing that again but with a twist.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg" alt="top10ten" class="alignright size-medium wp-image-10750" width="266" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg 266w, https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten.jpg 306w" sizes="auto, (max-width: 266px) 100vw, 266px" />
We want to include in our list a few things that aren’t findings or discoveries, but clearly, these stories have had a huge impact on the field of genetics. The fact that these stories made such a big splash beyond the world of science and health reporting illustrates how important genetics has become for everyone.
As far as research goes, in the last year, we’ve seen the continued rapid pace of discovery in genetic sciences. These new findings have included research into the biology of disease, mental illness and new insights into our understanding of human evolution. Researchers here at 23andMe are also a part of this push to understand not just the human story, but the biology of disease and the role genetics plays in our lives.
So let’s take a quick look back at the last year and 23andMe’s list of the Top Ten Genetic Stories of 2013.
<h6> THE ANGELINA EFFECT<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2013/12/Angelina-image-196x300.jpg" alt="46th New York Film Festival &quot;Changeling&quot; Premiere - Inside Arrivals" class="alignright size-medium wp-image-20131" width="173" height="265" /></h6>
Angelina Jolie’s<a href="https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html"> revelation</a> that she underwent a double prophylactic mastectomy after learning she had a mutation in the BRCA1 gene, brought genetic screening into sharp focus for everyone. In making her difficult choice, she took into consideration her family history – her mother died of ovarian cancer (also associated with BRCA1 gene mutation) and her aunt also had breast cancer   – her ancestry and her age. Going public with her story also offered comfort to many women facing similar choices.
<h6>EWWW</h6>
It probably wasn’t what Walt Whitman<a href="http://www.daypoems.net/plainpoems/1900.html"> meant</a>, but indeed we all “contain multitudes.” Our bodies are host to literally trillions of microorganisms that make up the “human microbiome,” and those organisms play a very important but not fully understood role in our health. There is also a link between the make-up of that microbiome and the genetic variation of our immune systems, which is another thing we haven’t yet fully figured out. But even without fully understanding how these all interrelate, doctors have started to use these important microorganisms to treat illnesses. Early in the year, the New England Journal of Medicine published a study that followed 16 patients who were treated for a severe gut infection with a<a href="https://www.nature.com/news/faecal-transplants-succeed-in-clinical-trial-1.12227"> fecal transplant.</a> While it might be something you’d rather not talk about over dinner, the treatment of the Clostridium difficile infection worked in 15 of the 16 patients.
<h6>FIVE MENTAL ILLNESSES SHARE A COMMON GENETIC LINK</h6>
A<a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2812%2962129-1/fulltext"> study published in early 2013</a> found that five very distinct psychiatric disorders share an association with some variants in genes that control signaling in the brain. The large study looked at schizophrenia, bipolar disorder, autism, major depression and attention deficit hyperactivity disorder. Although these are very different conditions, the findings may help researchers better understand the underpinnings of these very different illnesses. Two of the four variants involve calcium channels, integral for signaling within the brain.
<h6 dir="ltr">NOTHING TO SNEEZE AT<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/allergy.jpg" alt="allergy" class="alignright size-full wp-image-6151" width="198" height="176" /></h6>
There’s an ongoing debate about the interplay between genetics and the environment in why there has been an apparent increase in the rate of allergies. There are many theories offered to explain this including the “<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841828/">hygiene hypothesis</a>,” which suggests that an increasingly sanitized environment inhibits the development of the immune system.  Another theory is that increased exposure to chemicals and pollutants are the culprits. The rate of <a href="http://www.jacionline.org/article/S0091-6749%2805%2901314-X/abstract">allergies</a> has more than<a href="https://www.cdc.gov/nchs/data/databriefs/db10.htm#howdoes"> doubled over the last decade</a>.   While this increase is pointing to environmental factors, genetics is an important component.
A study done by 23andMe scientists and researchers at the University of Bristol’s<a href="http://www.bristol.ac.uk/alspac/"> Avon Longitudinal Study of Parents and Children (ALSPAC)</a> in the UK found <a href="https://mediacenter.23andme.com/press-releases/allergies_2013">new genetic associations for asthma and allergies</a>. It was the largest genome-wide association study ever conducted on common allergies with data from more than 53,000 people. The study showed that there are also common genetic variants underlying allergies to cats, pollen and dust mites
<h6>HUMAN GENES CAN’T BE PATENTED</h6>
Not long after Angelina’s revelation, the Supreme Court unanimously decided to bar the patenting of human genes. The case involved Myriad Genetics, which has long held patents for breast and ovarian cancer screening. What’s not so clear from the Supreme Court’s decision is what sort of impact this decision will have on research and innovation. While several companies almost immediately jumped into BRCA testing, legal challenges by Myriad to   stop those efforts quickly followed, leaving more doubt about how this will all play out.
<h6>THE WAY BACK<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2013/05/neanderthal.jpg" alt="neanderthal" class="alignright size-full wp-image-18144" width="150" height="270" /></h6>
Scientists extracted DNA from a 400,000-year-old thigh bone found buried in a Spanish cave, known as<a href="https://www.nature.com/nature/journal/vaop/ncurrent/full/nature12788.html"> Sima de Los Huesos, or Pit of Bones.</a>  Apart from the big deal of extracting genetic material from a really, really old bone – the oldest human DNA recovered yet – the find also gives us more information about human evolution, namely that it’s not as linear as some have thought. The DNA in the bone resembled that of ancient humans known as Denisovan.
Because of the time frame and the location, many had thought the bones would be from Neanderthals. The Denisovan DNA was a bit of a head-scratcher. Previous finds placed Denisovans in Siberia and only at about 80,000 years ago. Clearly, this adds more nuances to the story of human evolution. We can also add more pieces to that understanding after another DNA find this year. DNA from the 24,000-year-old skeletal remains of a boy buried near Lake Baikal in Siberia, has also altered researchers&#8217; view of the migration patterns of early Europeans.
The DNA matched not just with Western Europeans but with Native Americans. This suggests that the earliest people to settle the Americas were<a href="http://www.sciencemag.org/content/342/6157/409.full"> a mix of both populations.</a> While previous research has suggested that Native Americans descended from people who migrated from Siberia, this overlap with early Europeans is new. It also suggests that during the last Ice Age, people from Europe had migrated farther east than previously thought.
<h6>ALZHEIMER’S SEQUENCE DATA – CHAPTER ONE</h6>
The more information we can collect from people with the disease, the better we can understand them. Researchers working on Alzheimer’s disease got a huge boost in their efforts this year after the first batch of genetic data was<a href="http://www.nih.gov/news/health/dec2013/nhgri-02.htm"> made available</a> as part of the<a href="https://www.niagads.org/adsp/"> Alzheimer&#8217;s Disease Sequencing Project</a>. The project, conducted by the National Institutes of Health, makes available full genome sequence data on 410 people with Alzheimer’s. The hope is that by offering this information to a wide range of researchers, it will open up the possibility of new discoveries.
<h6>SHARING DATA<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/atcg-200x200.jpg" alt="DNA code analysis" class="alignright size-thumbnail wp-image-3837" width="200" height="200" /></h6>
Hundreds of institutions worldwide are currently doing clinical and genetic research. If you could share that data and standardize how it is reported, you could make it that much more useful. That’s exactly what more than 70 medical, research and advocacy organizations did this year, the National Institutes of Health among them. They all agreed to set up a system<a href="https://www.broadinstitute.org/news/globalalliance"> to share genetic and clinical information</a>. By creating a database of genetic variation and health information, it would offer researchers, and doctors, a powerful resource for discovery.
Illustrating the power of shared data, using data from the Electronic Medical Records Genomics Network<a href="https://www.genome.gov/27540473"> (eMERGE</a>) for short – researchers have identified dozens of new variants linked to diseases ranging from skin cancer to anemia. The eMERGE data set allowed researchers to search by gene variant to find associated conditions. As the database grows it will allow researchers to discover connections between seemingly unrelated diseases and genetic variants.
The power of big datasets that include not just genetic information but also phenotypic information, is part of what 23andMe is all about. This year 23andMe researchers leverage our database and certain phenotypes to  functionally classify different genetic associations. our researchers presented some of our findings on this at the ASHG conference this year in Boston. Their findings show that on occasion, a single genetic variant will be associated with multiple different phenotypes. So for example, in autoimmune diseases, a single SNP influences multiple different diseases. Sometimes these shared associations are more surprising, such as the genetic association shared by both<a href="https://blog.23andme.com/health-traits/23andmes-latest-publication-shines-light-on-male-pattern-baldness-and-unexpected-associations-with-disease/"> Parkinson’s disease and baldness</a>. We’ve also found correlations between breast cancer and breast size, body mass index and food choice, and hair color and skin cancer.
<h6>MY, WHAT LONG TELOMERES YOU HAVE</h6>
Several papers this year indicate that genetic variants in telomere genes (such as TERT, TERC, POT1, etc.) not only influence the length of telomeres, which in turn is a good indicator of longevity, but those variants are also associated with certain cancers. Researchers in several different Genome-Wide Association Studies have found links to cancers such as multiple myeloma,<a href="https://www.ncbi.nlm.nih.gov/pubmed/23535731"> breast and ovarian cancer</a>, testicular cancer,<a href="https://www.ncbi.nlm.nih.gov/pubmed?cmd=retrieve&#038;list_uids=23143601&#038;dopt=citation"> lung cancer,</a> and chronic<a href="https://www.nature.com/ng/journal/v45/n5/full/ng.2584.html"> lymphocytic leukemia</a>.
<h6>23ANDME AND THE FDA</h6>
It’s not the kind of news we like, but there’s no way for us to do a roundup of the year&#8217;s big stories without mentioning that the FDA in December ordered 23andMe to stop offering new consumers access to their health-related genetic tests, while the company moves through the FDA’s regulatory review process. 23andMe remains committed to being a pioneer in the genetics revolution and has made its work with the FDA its top priority.
Making it all work will be good not just for the FDA and 23andMe, but for the future of the direct-to-consumer genetic testing industry. Individuals who want to understand their genetics will win too – that’s everyone’s goal. Here’s to 2014.

This Year’s Top Ten Genetic Findings of 2013

Ed note: This post has been slightly changed since it first went up. We&#8217;ve also added in links to the posters that were presented at the conference. They are listed at the bottom of this post.
At this year’s American Society of Human Genetics meeting in Boston, a team of 23andMe scientists presented findings ranging from genetic associations of immune response and asthma, to a study looking at the genetics behind opioid-induced vomiting.
<img loading="lazy" decoding="async" class="wp-image-19557 size-full alignright" src="http://35.88.189.111/wp-content/uploads/2013/10/researchers.jpg" alt="" width="430" height="946" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/10/researchers.jpg 430w, https://blogcms.23andme.com/wp-content/uploads/2013/10/researchers-136x300.jpg 136w, https://blogcms.23andme.com/wp-content/uploads/2013/10/researchers-400x880.jpg 400w" sizes="auto, (max-width: 430px) 100vw, 430px" />
David Hinds, a Principal Scientist here, spoke about the study, filling in for 23andMe&#8217;s Senior Director of Research, Joanna L. Mountain. Unlike many other pharmacogenetic studies that focus on very small cohorts, this study included more than 2,400 individuals who reported that the opioid codeine triggered vomiting.
The study had about 10,000 controls, or individuals who reported no problems taking the pain medication. Beyond the relative robustness of the study, the research is also significant in that it looked at the genetics behind moderate side effects to a prescription drug.
Rarely done in pharmacogenetic studies, moderate side effects still play a huge role in the relative effectiveness of medication because they impact whether people actually use the drug as prescribed. Nick Eriksson, a Principal Scientist at 23andMe, also spoke at the conference. Nick described how 23andMe uses correlated phenotypes to functionally classify different genetic associations. On occasion, a single genetic variant will be associated with multiple different phenotypes.
For example, this occurs in autoimmune diseases, where a single SNP influences multiple different diseases. Sometimes these shared associations are more surprising, such as the genetic association shared by both <a href="https://blog.23andme.com/health-traits/23andmes-latest-publication-shines-light-on-male-pattern-baldness-and-unexpected-associations-with-disease/">Parkinson’s disease and baldness</a>. By leveraging the huge range of phenotypes that 23andMe customers have reported, we can search for other surprising shared associations and use those to cluster SNPs in functional categories. This in turn can give insight into the function of disease associated genetic variants. Using this method, we looked at correlations between breast cancer and breast size, body mass index and food choice, and hair color and skin cancer.
Our scientists also presented findings related to genetic associations with different immune responses, associations found in a very large study of genetics behind asthma, the associations with susceptibility to infectious disease, as well as genetic associations for uterine fibroids.
Also on hand at the conference was 23andMe’s Senior Medical Director,<a href="https://blog.23andme.com/news/23andmes-uta-francke-lauded-by-ashg/"> Uta Francke, MD</a>, who spoke at the conference about online genetic education and counseling. Below the links to the posters presented at ASHG:
• <a href="http://35.88.189.111/wp-content/uploads/2013/10/GWAS-Uterine-Fibroids.pdf" target="_blank" rel="noopener noreferrer">GWAS Analysis in a 23andMe Cohort Identifies Novel Associations with Uterine Fibroids</a>, a poster presented by Alena Shmygelska
• <a href="http://35.88.189.111/wp-content/uploads/2013/10/GWAS-for-Susceptibility-to-Infection.pdf" target="_blank" rel="noopener noreferrer">GWAS Identifies Classical HLA Alleles Associated with Susceptibility to Infectious Diseases</a>, a poster presented by Chao Tian
• <a href="http://35.88.189.111/wp-content/uploads/2013/10/ASHG2013asthma_final1.pdf" target="_blank" rel="noopener noreferrer">A Large Scale GWAS of Asthma in the 23andMe Cohort,</a> a poster presented by Dave Hinds
• <a href="http://35.88.189.111/wp-content/uploads/2013/10/ASHG2013poster-jyt-final.pdf" target="_blank" rel="noopener noreferrer">GWAS of Diverse Immune-Related Phenotypes Highlights Complex Overlapping Pathways of Immune Response</a>, a poster presented by Joyce Tung

23andMe At ASHG

<img loading="lazy" decoding="async" class="alignright wp-image-16207 size-medium" src="http://35.88.189.111/wp-content/uploads/2012/10/23andMe-David-047-210x300.jpeg" alt="" width="210" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/10/23andMe-David-047-210x300.jpeg 210w, https://blogcms.23andme.com/wp-content/uploads/2012/10/23andMe-David-047.jpeg 508w" sizes="auto, (max-width: 210px) 100vw, 210px" />Research <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2686.html" target="_blank" rel="noopener noreferrer">published online</a> this week in Nature Genetics, has found <a href="https://mediacenter.23andme.com/press-releases/allergies_2013" target="_blank" rel="noopener noreferrer">new genetic associations for asthma and allergies</a>.
<a href="https://dx.doi.org/10.1038/ng.2686" target="_blank" rel="noopener noreferrer">The study</a> – done by scientists here at 23andMe and researchers at the University of Bristol’s<a href="http://www.bristol.ac.uk/alspac/"> Avon Longitudinal Study of Parents and Children (ALSPAC)</a> in the UK – is the largest genome-wide association study ever conducted on common allergies with data from more than 53,000 people.
“Although environmental factors certainly play a role, our study reinforces the genetic link between common allergens and a person’s susceptibility to experiencing an allergic reaction,” said David Hinds, Ph.D., author and 23andMe principal scientist.
Asthma and allergies, which are strongly linked to each other, are among the most common diseases in the industrialized world.
The last two decades has seen a surge in the number of people with asthma and allergies. There are many theories offered to explain this including the “<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841828/">hygiene hypothesis</a>,” which suggests that an increasingly sanitized environment inhibits the development of the immune system.   Another theory is that increasing exposure to chemicals and pollutants are the culprit.
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">Allergies of a Feather Flock Together 
People with allergies tend to be allergic to multiple things.Sometimes this makes sense – being allergic to cats and dogs for instance – other times the groupings make you scratch your head. Based on our research survey data, we found that if you are allergic to one insect’s sting, it is more likely that you’ll be allergic to another. But food allergies do not appear to be associated with other kinds of allergies.You can learn more about these associations<a href="https://www.23andme.com/about/factoid/factoid_allergies/" target="_blank" rel="noopener noreferrer"> here</a>.</div>
But whatever the environmental factors,<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3151648/"> genetics plays a very important role</a> in whether or not an individual develops asthma or allergies. So understanding the genetic underpinnings of both conditions can offer insight not just in who may develop asthma or allergies but also into the biological pathways for the conditions. This can help in identifying potential new treatments for the conditions.
This study looked at common allergies, including allergies to pollen, dust-mites and cats. The researchers found 16 new genetic associations with allergies, eight of which have also been associated with asthma. While the link between the development of allergies and asthma is well established, these new genetic variants add to our understanding of the connection between these conditions.
To do the study, 23andMe selected self-reported data on allergies for pollen, dust-mites and cats. The Avon Longitudinal Study of Parents and Children had comparable data.   The researchers then used this combined data as part of the genome-wide association meta-analysis.
“Allergy is an important component of many diseases, including asthma, eczema and hay fever, which together account for a huge burden on patients and the health services.” said professor John Henderson of ALSPAC.   “This is a very exciting time for allergy research. Genetic discoveries have identified specific pathways of allergy development that are not shared with allergic diseases like asthma. Understanding these pathways could lead to eventual development of drugs that cure or prevent allergy rather than just suppressing its symptoms.”

New Genetic Associations Found For Allergies and Asthma

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="" width="150" height="150" srcset="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-150x150.jpg 150w, 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" />
23andMe received more than half a million dollars recently from the<a href="https://www.23andme.com/about/press/nih_awards_2012"> National Institutes of Health (NIH) for three research projects</a>.
The grants support some of the important online genome-wide association studies 23andMe has pioneered – in this case one grant will go towards research into the genetics of allergies and asthma. But the NIH money will also support two other research projects that help push our work into new realms.
One project will develop methods for assessing the accuracy of new sequencing technologies in clinical applications, while the third grant supports a project to develop new survey and data collection tools that can be used in whole-genome sequencing research.
Principal Scientist and statistical geneticist Dave Hinds is spearheading the <a href="http://projectreporter.nih.gov/project_info_description.cfm?icde=0&amp;aid=8394670">research into asthma and allergies</a> by leveraging the more than 100,000 people in our database who have consented to participate in research. As part of the grant, Dave plans to partner with experts in the genetics of asthma and allergies.
Our research platform gives the team working on this project a bit of a head start because we have about 25,000 customers participating in research who also report having one or more allergies. About 8,000 say they’ve been diagnosed with asthma. This gives us two large cohorts to help us begin the work that could provide breakthroughs to help so many more people. Allergies and asthma affect as many as one in five Americans, making better understanding of the genetics behind these conditions an important public health priority.
We are also excited by the research being overseen by Brain Naughton, our Founding Scientist. The project, <a href="http://projectreporter.nih.gov/project_info_description.cfm?icde=0&amp;aid=8394910">“Development of DNA Sequencing Data-Quality Metrics for Personal Genomics”</a> will be important for laying the groundwork for the eventual broad adoption of whole-genome sequencing. Before that can happen however, we must ensure that the results are accurate and create standards for how that is measured. Brian and his team will analyze about 150 exomes (including 50 new exomes sequenced for this project) and 100 whole genomes to investigate false positive and false negative rates for variants located in known disease genes.
Finally, Nick Eriksson, also a Principal Scientist and statistical geneticist, will lead the development of tools that would <a href="http://projectreporter.nih.gov/project_info_description.cfm?icde=0&amp;aid=8395172">improve the reliability of online self-reported data</a>. &nbsp;The long-term goal of this multi-phased project is to accelerate the research 23andMe currently does and increase the scope and reach of that research.

Three New Research Projects from 23andMe

In our last post, we announced four of the posters 23andMe scientists will be presenting in Montreal this week describing characteristics of our database and research platform. With the help of our tens of thousands of research<img loading="lazy" decoding="async" class="alignright size-large wp-image-10018" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/phenome-crop.png" alt="" width="1" height="1" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/phenome-crop.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/phenome-crop-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2011/10/phenome-crop-295x300.png 295w, https://blogcms.23andme.com/wp-content/uploads/2011/10/phenome-crop-271x149.png 271w" sizes="auto, (max-width: 1px) 100vw, 1px" /> participants, we&#8217;ve already made novel discoveries into the genetics of common traits as well as Parkinson&#8217;s disease. At ICHG/ASHG 2011, we&#8217;ll share some more of the novel findings we&#8217;ve discovered, covering everything from allergies to risk assessment.
(For a full list of 23andMe&#8217;s presentations, click &nbsp;<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011posters23andMe.pdf" target="_blank" rel="noopener">here</a>.)
Piecing together the complicated picture of allergies
If you’re like 20% of Americans, you probably suffer from at least one allergy. Your particular trigger might be cats, or maybe it&#8217;s dust mites, pollen, nuts, shellfish, or bees. And if that&#8217;s not enough misery, allergies are often accompanied by asthma as well. To learn more about the genetic factors influencing the allergy-asthma spectrum, scientists from 23andMe, Stanford, the United Kingdom, and Johnson &amp; Johnson analyzed data from more than 20,000 participants in the 23andMe database and the Avon Longitudinal Study of Parents and Children (ALSPAC).
Principal Scientist Dr. David Hinds discusses their findings during the poster session on Thursday October 13th between 2-3pm with his poster, &#8220;Genetics of allergy and related phenotypes in participant driven and cross sectional cohorts.&#8221; (#417T)
(Also see our Research Finding on correlations between allergies.)
N 
ew genetic factors for hypothyroidism
What do Oprah Winfrey, Kelly Osbourne, and Linda Ronstadt have in common? Yes, they&#8217;re all famous women, but they also all suffer from hypothyroidism, a condition that affects about 5% of the population. 23andMe scientists conducted the first genome-wide association study of this common thyroid condition and identified four genetic factors associated with the disease, some of which have already been implicated in other thyroid disorders and some that are novel.
Founding Scientist Dr. Brian Naughton presents these findings and their broader connection with other autoimmune diseases during the poster session on Wednesday October 12th between 3-4pm with his poster, &#8220;Novel associations for hypothyroidism include known autoimmune risk loci.&#8221; (#1334W)
From genome to phenome
What do you get when you cross thousands of SNPs with thousands of phenotypes gathered from tens of thousands of people? Intriguing associations for everything from migraines to mosquito bites. Many genetic variants are associated with multiple conditions, a finding that was especially prominent amongst physical traits. We also found that associations for seemingly frivolous traits (breast size) can uncover biological relationships for serious diseases (breast cancer).
Principal Scientist Dr. Nick Eriksson describes these and other fascinating discoveries during the poster session on Thursday October 13th between 2-3pm with his poster, &#8220;Phenome-wide studies of SNPs from GWAS in a broadly phenotyped population.&#8221; (#430T)
All in the family &#8212; or not?
Conventional wisdom says that family history is the best overall method for assessing a person&#8217;s risk for disease, but is it really? How do SNP-based models compare to family history in assessing risk for disease? &nbsp;Perhaps not surprisingly, neither method is universally better than the other, but rather the relative performance of each depends on the characteristics of the disease. For less common diseases in particular, SNP-based risk assessments may perform better than family history.
Principal Scientist Dr. Nick Eriksson will be presenting the results of these analyses performed by Scientist Dr. Chuong (Tom) Do during the poster session on Wednesday October 12th between 3-4pm with the poster, &#8220;Prediction of complex multifactorial disease: comparing family history and genetics.&#8221; (#408W)
And that’s not all…
Read more about characteristics of our database and research cohorts <a title="23andMe Scientists Head to Montreal for ICHG/ASHG, Eh" href="https://blog.23andme.com/articles/23andme-scientists-head-to-montreal-for-ichgashg-eh">here</a>. Check back tomorrow to learn more about the last two presentations we’ll be giving covering methods behind our Ancestry Finder feature and how we decide what genetics findings to include in our Personal Genome Service ®.
For a full list of 23andMe&#8217;s presentations, click <a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011posters23andMe.pdf" target="_blank" rel="noopener">here</a>.
You can also follow us on Twitter for highlights from the conference <a href="https://twitter.com/#!/23andme" target="_blank" rel="noopener">@23andMe</a> or <a href="https://twitter.com/#!/23science" target="_blank" rel="noopener">@23science</a>.

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