<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-8732" title="DNA-chains" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/DNA-chains-300x225.jpg" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/DNA-chains-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/03/DNA-chains.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The story <a href="https://www.nytimes.com/2012/06/07/health/tests-of-parents-are-used-to-map-genes-of-a-fetus.html?pagewanted=all&#038;_r=0">first broke</a> in the summer of 2012 – two separate research groups, one from the University of Washington and the other from Stanford, announced within weeks of each other that they had successfully sequenced a human fetus and done so noninvasively.
Scientist <a href="http://stm.sciencemag.org/content/4/137/137ra76.short">Jacob O Kitzman</a>, who led the University of Washington study, sequenced the fetal genome by analyzing a blood sample from the mother and a saliva sample from the father, while <a href="https://www.nature.com/nature/journal/vaop/ncurrent/full/nature11251.html">H. Christina Fan</a>, leader of the Stanford study, just analyzed a blood sample from the mother.
By sequencing DNA from one or both parents and applying some computational tricks, these researchers were able to decode the genome sequence of the fetus. Their approach was possible because a small but very measurable percentage of DNA found in a pregnant mother’s bloodstream comes from the fetus.
At the ASHG 2012 meeting earlier this month, we heard first hand from Kitzman about their study. When they sequenced the pregnant mother’s plasma (a component of blood) they found that 87 percent of the DNA was of maternal origin and 13 percent was of fetal origin. When they compared their decoded genome to the actual genome of the fetus, which they sequenced using umbilical cord blood collected at birth, their accuracy was around 98 percent for most regions of the genome.
Noninvasive sequencing of human fetuses holds clinical utility. Since the approaches pioneered by Kitzman and Fan don’t rely on <a href="http://www.mayoclinic.com/health/amniocentesis/MY00155">amniocentesis</a> or <a href="http://www.mayoclinic.com/health/chorionic-villus-sampling/MY00154">chorionic villous sampling (CVS)</a> for obtaining fetal DNA, they do not pose a risk to the developing fetus. Both amniocentesis and CVS are invasive procedures that carry a small risk of miscarriage.
Noninvasive fetal sequencing is also clinically useful because it provides a whole genome’s worth of information.
Some might wonder how it’s different from the relatively <a href="https://www.nytimes.com/2011/10/18/business/sequenom-test-for-down-syndrome-raises-hopes-and-questions.html?pagewanted=all">new blood-based screen</a> that some are calling “the Down syndrome test.” This test, already commercially available, only requires a sample of the mother’s blood and is therefore non-invasive. But it differs from fetal sequencing because it only detects large chromosomal abnormalities – for instance having an extra chromosome, which occurs with Down syndrome. In contrast, fetal sequencing detects both chromosomal abnormalities as well as very small mutations like those causing single-gene disorders like cystic fibrosis. Fetal sequencing can also detect <a href="http://ghr.nlm.nih.gov/glossary=denovomutation">“de novo” mutations</a>, changes in DNA that are not inherited from parents but instead occur very early in the course of a person’s life and can also cause disease.
But it’s likely going to take some time before fetal sequencing is actually offered to the general public. The costs need to drop significantly – it’s currently around <a href="https://www.nytimes.com/2012/06/07/health/tests-of-parents-are-used-to-map-genes-of-a-fetus.html?pagewanted=all&#038;_r=0">$20,000-$50,000</a> per fetal genome. More work is also needed to refine the approach and improve the accuracy.
For this study Kitzman drew a blood sample when the fetus was around 18 weeks of gestation, but scientists expect the test to become available for women who are in earlier stages of pregnancy, for instance during the first trimester.
As with traditional prenatal screening such as amniocentesis and chorionic villus sampling (CVS), fetal sequencing can predict a serious medical condition. Fetal sequencing goes further, however, and may enable parents to obtain a rough prediction of traits such as the future eye color of the fetus. If current trends continue, some prospective parents will want such information, while others will prefer to wait until after the baby is born to learn about medical and non-medical conditions. The utility of this test and the decision to use it will depend a great deal on the test’s accuracy, which currently isn’t very high. But it’s clear that testing options for prospective parents will continue to grow in number and complexity.

23andMe Blog

23andMe Blog Team

Noninvasive Sequencing of a Human Fetus

<img loading="lazy" decoding="async" class="aligncenter wp-image-16917 size-full" title="Thanksgiving Turkey Dinner" src="http://35.88.189.111/wp-content/uploads/2012/11/turkeyDinner.jpg" alt="" width="420" height="286" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/11/turkeyDinner.jpg 420w, https://blogcms.23andme.com/wp-content/uploads/2012/11/turkeyDinner-300x204.jpg 300w" sizes="auto, (max-width: 420px) 100vw, 420px" />
Thanksgiving &#8212; it’s a time for friends, family and, of course, food.
Thanks to modern science, we now know quite a lot about the foods that grace our holiday tables.  Over the last few years, scientists have worked hard to sequence many common Thanksgiving foods: <a href="http://www.plosbiology.org/article/info%3Adoi%2F10.1371%2Fjournal.pbio.1000475">turkeys</a>, potatoes, <a href="http://maizesequence.org/index.html">corn</a>, <a href="https://www.nature.com/ng/journal/v42/n10/abs/ng.654.html">apples</a>, <a href="https://www.nature.com/nature/journal/v449/n7161/full/nature06148.html">wine grapes</a>, and many more (an attractive slideshow highlighting some of these food genomes is available here).
The sequencing of these holiday foods isn’t just an academic exercise; the hope is that new knowledge will lead to hardier and more nutritious crops.  Furthermore, the old adage “you are what you eat” has proven very true as insights into food genetics have translated into useful medical knowledge because of the underlying DNA similarities.  For instance, the transposon (genes that move around) were first discovered in corn, a discovery that earned Barbara McClintock her Nobel Prize.  Transposons are now understood to play an important role in disease and in <a href="https://blog.23andme.com/news/tomorrows-breakthroughs-this-is-your-brain-on-retrotransposons/">brain genetics</a>.
Because of the strong selection pressure on food crops, careful breeding and, more recently, genetic engineering, the genomes of these food items are constantly and quickly changing.  Potatoes and tomatoes are wildly different plants, and yet are only separated by a mere 10 million years of evolution. (Yes, 10 million years is “mere” on evolutionary time scales.)
<div style="float: left; text-align: justified; width: 300px; padding: 15px; border: 1px solid #ccc; margin-right: 10px;">
Don&#8217;t blame the turkey 
Did you know tryptophan has a bad, but undeserved, rap? This essential amino acid is not to blame for your post-Thanksgiving meal slumber. Turkey has no more tryptophan than chicken or many other foods. Your food coma has more to do with your large portions of carbs than tryptophan.
</div>
The <a href="https://www.wired.com/wiredscience/2008/11/turkeytech/">turkey</a> has undergone some particularly astounding changes since the time of your grandparents’ childhood Thanksgiving meals. The average turkey in 1929 weighed 13.2 pounds, whereas the average turkey today is 29 pounds.  Attribute this to careful breeding and the introduction of artificial insemination in the 1960’s. (Apparently birds over 30 pounds have trouble mating).
Whether you find these changes to your dinner table troubling or exciting, it is likely that such changes will continue.   With more knowledge about the genetics underlying our foods, the gates of genetic engineering are opening wide.   For farmers hoping for heartier and healthier crops, this may indeed be something for which to give thanks, but the full extent of possibilities and risks are yet to be seen.

Genetics at the Thanksgiving Dinner Table

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-12186" title="rich portrait1" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/rich-portrait1-300x244.jpg" alt="" width="300" height="244" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/04/rich-portrait1-300x244.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/04/rich-portrait1.jpg 533w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Another friend of 23andMe, <a href="http://theastronautssecret.com/">Rich Clifford</a>, the former NASA astronaut who has become a powerful voice for those with Parkinson’s, was recently featured on CNN.
Always an inspiration, Rich spoke with CNN’s Dr. Sanjay Gupta about his life with Parkinson’s disease. A career military officer, he flew on the Space Shuttle Atlantis two years after getting his own diagnosis for Parkinson’s. Now, more than 20 years later, he has become an advocate for others battling the disease.
He is also a big supporter of 23andMe’s <a href="https://www.23andme.com/pd/">Parkinson’s research initiative</a>. He said 23andMe’s test offers people an opportunity to learn of their genetic risk for the disease before they get it. This gives them a chance to take steps for early intervention before they get symptoms. 
 
Take a look at the CNN piece.
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A more in-depth look at his story and his fight against Parkinson’s is the subject of Zach Jankovic’s soon to be completed documentary, <a href="http://theastronautssecret.com/">“The Astronaut’s Secret.”</a>
If you haven&#8217;t already, take a look at some of our recent posts on Parkinson&#8217;s:
&#8211;<a href="https://blog.23andme.com/23andme-research/in-washington-talking-about-parkinsons-research/" target="_blank" rel="noopener noreferrer"> 23andMe Goest to Washington</a> 
&#8211;<a href="https://blog.23andme.com/23andme-research/23andme-research/23andme-research/why-not-participate-one-patients-perspective/" target="_blank" rel="noopener noreferrer"> Why Not Participate? One Patient’s Perspective</a> 
&#8211;<a href="https://blog.23andme.com/23andme-research/23andme-research/23andme-research/23andmes-latest-publication-shines-light-on-male-pattern-baldness-and-unexpected-associations-with-disease/"> 23andMe’s Latest Publication Shines Light on Male Pattern Baldness and Unexpected Associations with Disease</a> 
&#8211;<a href="https://blog.23andme.com/23andme-research/23andme-research/23andme-and-you/23andme-and-parkinsons-past-present-and-future/"> 23andMe and Parkinson’s: Past, Present, and Future</a> 
&#8211;<a href="https://blog.23andme.com/23andme-research/23andme-research/news/the-state-of-the-science-of-parkinsons-research/"> The State of the Science of Parkinson’s Research</a>

Another Hero in the Fight Against Parkinson’s

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-16865" title="Nick" src="https://blog-api.23andme.com/wp-content/uploads/2012/11/Nick-209x300.jpg" alt="" width="209" height="300" />
You’d be forgiven for assuming your height has nothing to do with the curl of your hair or how flexible you are, but physical traits can sometimes have unexpected connections.
Last week at the annual meeting of the American Society of Human Genetics in San Francisco, 23andMe’s Principal Scientist and Statistical Geneticist Nick Eriksson presented findings from our database about 300 new genetic associations with various physical traits.
It’s not surprising that a single trait – having a<a href="https://www.23andme.com/about/factoids/"> unibrow</a>, for instance – might be influenced by any number of different genetic variants. In the case of unibrow, we’ve found more than 50 genetic variants associated with the trait. It is also well known that genetic variants can be associated with multiple traits and conditions. For example, variants in the PAX3 gene have independent associations with unibrow, whether you’ve got a <a href="https://www.23andme.com/topics/traits/cleft-chin/">chin dimple</a>, or upper back hair.
It’s the sheer volume of newly discovered associations that is so surprising. Beyond that, the work is both interesting and informative in what it says about the web of connections between these traits and conditions. These associations shed new light on how genes and gene expression may influence those conditions and traits as well as certain diseases. 
 
While there may be some novelty in finding associations with traits like breast size, sometimes these associations tell us something very important. In the case of<a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/Genetic-Variants-Associated-with-Breast-Size-and-Cancer.pdf"> breast size</a> there’s a connection with breast cancer, for instance. And these associations can also lead us to new ways of thinking about how certain conditions develop.
Nick’s presentation was meant in part to simply put out there some of the findings we’ve made.
These findings were made because our customers answered questions concerning easily identifiable physical traits, such as whether they’re bald, can easily touch their toes and whether their ring finger is longer than their index finger. Comparing this data with their genetics we were able to see connections that could give us greater understanding of links between these seemingly unrelated traits.
Looking at the PAX3 gene again, which contains variants that influence normal facial development, there are variants that are also associated with a syndrome that leads to deafness, facial abnormalities and skin pigmentation irregularities. Variants in another gene HOXD, which is essential for hand and foot development, are also associated with some severe deformities. And variants in the EDAR gene – which influence the baldness, the straightness of your hair and the amount of <a href="https://www.23andme.com/topics/traits/back-hair/">back hair</a> you have – are also associated with ectodermal dysplasias, that effects the development of hair, nails, skin and teeth. So understanding these associations with common but complex traits can also provide insight into rare disorders and conditions.
People fuel 23andMe’s engine of discovery because they choose to answer a few questions about themselves. This has allowed us to answer questions about genetics and it has also allowed us to study over 1,000 different traits and conditions, many of which have never been analyzed in such a large scale. What we’ve gleaned from this data so far is a picture of the complex genetic architecture underlying human differences and point us in the right directions for future study.

The Complex Genetic Architecture Underlying Human Differences

<img loading="lazy" decoding="async" class="alignright size-full wp-image-16492" title="blogger-emily" src="https://blog-api.23andme.com/wp-content/uploads/2012/10/blogger-emily.jpg" alt="" width="150" height="200">
23andMe’s genetic health reports cover 191 rare genetic mutations in addition to more common variants related to disease. While it’s relatively easy to learn about common variants, our knowledge of rare mutations traditionally has come from very small studies limited to specific populations, like French Canadians living in Quebec or people with Ashkenazi Jewish ancestry. 23andMe’s 180,000+ customers, however, provide a unique opportunity to learn about these mutations in a more general population.
Within a large group of 23andMe customers who have consented to participate in research, we see that most of these mutations are indeed most common in the populations that have already been studied, but some are showing up in people whose ancestries have not been linked to that mutation before. &nbsp;I presented data about these mutations in a poster at the annual meeting of the <a href="http://www.ashg.org/">American Society of Human Genetics</a> (ASHG) last week in San Francisco.
Why might these mutations appear in people with ancestries other than those that have been studied? Perhaps our definitions of ancestry aren’t thorough enough and these people do actually have some of the expected ancestry. &nbsp;But it’s also possible that some mutations are present in these other populations and this is simply the first time researchers have documented it.
This second possibility has far-reaching implications. &nbsp;Couples planning to have children are often screened for genetic mutations that could cause inherited diseases in their children. Typically, they are screened for specific mutations thought to be most common in their ancestral group. Our data shows that many mutations can occur in people outside those ancestral groups. Add to that the fact that many people might not know all the details of their ancestry and the argument for broader screening becomes stronger.
Although it is clear that more research is needed, these observations may be an important first step towards better understanding who may be affected by rare genetic mutations.

Expect the Unexpected: Rare Mutation Frequencies

<img loading="lazy" decoding="async" class="alignright wp-image-4013 size-full" title="geneticresearch7" src="http://35.88.189.111/wp-content/uploads/2009/07/geneticresearch7.jpg" alt="" width="350" height="268" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
This week our scientists have been busy at the American Society of Human Genetics Annual Meeting in San Francisco.
As promised we&#8217;re putting up links to each of the posters that we presented at the meeting. It gives you a sense of the breadth and depth of 23andMe&#8217;s research and our commitment to share our findings with our customers.
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/ASHG2012poster-Francke.Oct30.pdf" target="_blank" rel="noopener noreferrer">Reactions to direct-to-consumer BRCA test results</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/Drabant-Poster-v7.pdf" target="_blank" rel="noopener noreferrer">Genome wide association study of sexual orientation in a large, web-based cohort</a>
<a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/MPN_ASHG_v2.pdf">Myeloproliferative neoplasms and somatic mosaicism in the 23andMe participant community</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/ASHG2012MyopiaGWAS.jm_.pdf" target="_blank" rel="noopener noreferrer">Genetics of myopia in a participant-driven, web-based cohort</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/ASHG2012poster-Mullins-Stretch-marks3.pdf" target="_blank" rel="noopener noreferrer">Not a stretch: Variant near the dermal gene elastin is associated with stretch marks</a>
•
<a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/LRRK2_ASHG2012_cmclean_poster.pdf">Whole-genome sequencing of 50 LRRK2 G2019S carriers discordant for Parkinson’s disease</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/EmilyChangPoster_v11.pdf">The power of large numbers: frequencies of of rare, pathogenic mutations in the 23andMe database</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/20121027_ancestry_painting_methods_poster.pdf" target="_blank" rel="noopener noreferrer">A scalable pipeline for local ancestry inference using thousands of reference individuals</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/Genetic-Variants-Associated-with-Breast-Size-and-Cancer.pdf" target="_blank" rel="noopener noreferrer">Genetic variants associated with breast size also influence breast cancer risk</a>
<a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/ASHG2012poster-SW_cilantro-final.pdf" target="_blank" rel="noopener noreferrer">• So fresh or so clean? A genetic variant near olfactory receptor genes influences cilantro preference</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/ASHG2012poster-MountainOct30.v7.pdf" target="_blank" rel="noopener noreferrer">Web-based phenotyping yields replication of genetic associations with response to warfarin</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/HCM-ASHG-TTAM.pdf">Population sampling and in vitro modeling of a 25bp deletion associated with hypertrophic cardiomyopathy</a>
•<a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/Brian_Naughton_TruVar_ASHG2012poster.pptx-1.pdf" target="_blank" rel="noopener noreferrer"> Interpretation of variants of unknown significance using identity-by-descent in a large database of genotyped and phenotyped individuals</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/ASHG2012RITFposter.final_.pdf" target="_blank" rel="noopener noreferrer">A web-based initiative to accelerate research on genetics and disease in African Americans</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/ASHG2012poster-Hromatka-FINAL.pdf" target="_blank" rel="noopener noreferrer">GWAS identifies 13 polymorphisms associated with motion sickness</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/EH_ASHG2012poster_1.pdf" target="_blank" rel="noopener noreferrer">Considerations for the processing and direct-to-consumer return of exome sequences</a>
• <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/ASHG2012poster-JYT-final.pdf" target="_blank" rel="noopener noreferrer">Evaluation of a scalable method for returning results and genetic findings from genomic research to research participants</a>

23andMe’s Presentations at ASHG

<img loading="lazy" decoding="async" class="alignright wp-image-16833 size-medium" title="23andMe-Uta-007" src="http://35.88.189.111/wp-content/uploads/2012/11/23andMe-Uta-007-210x300.jpg" alt="" width="210" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/11/23andMe-Uta-007-210x300.jpg 210w, https://blogcms.23andme.com/wp-content/uploads/2012/11/23andMe-Uta-007.jpg 508w" sizes="auto, (max-width: 210px) 100vw, 210px" />
A big congratulations from everybody here at 23andMe to our Senior Medical Director Uta Francke, who’ll be picking up the William Allan Award from the American Society of Human Genetics in San Francisco this morning.
A medical doctor and professor emeritus of Genetics and Pediatrics at Stanford University, Uta has never rested on her long record of achievement. She continues to break new ground in genetics research and inspire her fellow scientists here at 23andMe.
This award – one in a long string of accolades she’s received in her career – recognizes her singular scientific contributions in the field of genetics.
In making the announcement, Joann Boughman, the executive vice president of the American Society of Human Genetics noted the respect she commands among geneticists offering a “stellar example of a tireless scientist, always seeking answers to any question that she becomes interested in, and pursing a variety of research techniques that will advance the knowledge in that particular subject.”
We couldn’t agree more.
Uta has spent decades on the leading edge of genetic research particularly focusing on human genetic diseases. Among her many achievements were groundbreaking new insights into such genetic diseases as Charcot-Marie-Tooth, Marfan, Rett, Prader-Willi, Williams, and Wiskott-Aldrich syndromes. Her work opened new avenues for the study and treatment of these disorders.
Uta, who served as president of the ASHG in 1999, continues to make contributions on many levels. Beyond her work in basic research, Uta is helping 23andMe – and the direct-to-consumer genetics industry as a whole – move into a new era of personalized medicine.
As a testament to her forward-thinking one need only look back to her remarks more than a <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288184/">decade ago to the ASHG</a> when she noted that genetic information would increasingly influence primary medicine. She called for educating both physicians and the public about genetics. And, as if foreseeing her own role at 23andMe, she pointed to the potential that the Internet would be how people could get access to genetic information.
23andMe is extremely proud of her achievements and continues to draw inspiration from her work.

23andMe’s Uta Francke Lauded by ASHG

<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-14718" title="ashglogo" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/ashglogo.jpg" alt="" width="150" height="80" />
There are many pie charts, numerical tables, and graphs on display this week at the American Society of Human Genetics in San Francisco, but one caught our eye Wednesday morning.
It was a graph by Dr. Cinnamon Bloss of the<a href="http://www.stsiweb.org/index.php/translational_research/research_highlights/consumer_genomics/"> Scripps Translational Science Institute</a>. Scripps has been studying consumer reactions to genetic testing for several years.
The graph tracks the coverage of direct-to-consumer genetic testing in academic journals over the last ten years. What’s interesting is how widely divergent the lines are between the number of opinion pieces and actual studies. While the number of studies into direct-to-consumer genetic testing ticked up modestly, the number of opinion pieces increased exponentially.
Bloss and her team broke down the arguments made in those pieces – both pro and con – and concluded that these are all opinions they could study and gather evidence on. Do these tests induce anxiety, for instance? Or do people understand the information they get from these tests? Do they take action on what they learn or talk to their doctors?
<img loading="lazy" decoding="async" class="alignright wp-image-16786 size-medium" title="Scripps graph" src="http://35.88.189.111/wp-content/uploads/2012/11/Scripps-graph-300x221.jpg" alt="" width="300" height="221" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/11/Scripps-graph-300x221.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/11/Scripps-graph-768x566.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/11/Scripps-graph-880x648.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/11/Scripps-graph.jpg 892w" sizes="auto, (max-width: 300px) 100vw, 300px" />Scripps Translational Science Institute Graph
<a href="https://blog.23andme.com/23andme-research/few-worry-about-genetic-testing/">We’ve written</a> a little about some of the work Bloss and her team have already done. She covered some of<a href="http://www.nejm.org/doi/full/10.1056/NEJMoa1011893"> that territory again</a>, showing that, for instance,<a href="https://www.nature.com/news/2011/110112/full/news.2011.12.html"> several studies</a> indicate that direct-to-consumer genetics testing does not induce high levels of anxiety among people who have these tests done.
What was nice about the graph – and the discussion during which it was presented – is that instead of batting about opinions, the speakers talked about what they’ve learned from some of the most recent studies into consumer genetics. (The panel included 23andMe’s Senior Director of Research Joanna Mountain.)   (Editor&#8217;s note: Ricki Lewis had an excellent post about this panel on the PLOS blog DNA Science.)
It was interesting to learn that people are not only not worried about exploring their genetics, but they genuinely desire access to that information. A study by Dr. David Kaufman of Johns Hopkins University, who was also on the panel, showed that people reacted to getting this information by talking to their doctors or simply seeking more information about conditions.
Dr. Sandra Soo-Jin Lee of Stanford presented data from her study on social networking and genetic testing. In it, she found that a high percentage of people openly share their genetic information not just with their doctors but also with family and friends.
23andMe has helped some of these researchers connect with our customers. Joanna explained 23andMe’s rationale for working with academics during the panel discussion. There are many reasons, but one of the main motivations is to learn more about what kinds of information customers respond to and what they find most useful. This helps us improve what we do.

Data on Personal Genetics at ASHG

<img loading="lazy" decoding="async" class="alignright wp-image-16730 size-medium" title="Emily Headshot Casual" src="http://35.88.189.111/wp-content/uploads/2012/11/Emily-Headshot-Casual-231x300.jpg" alt="" width="231" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/11/Emily-Headshot-Casual-231x300.jpg 231w, https://blogcms.23andme.com/wp-content/uploads/2012/11/Emily-Headshot-Casual-768x999.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/11/Emily-Headshot-Casual-787x1024.jpg 787w, https://blogcms.23andme.com/wp-content/uploads/2012/11/Emily-Headshot-Casual-677x880.jpg 677w, https://blogcms.23andme.com/wp-content/uploads/2012/11/Emily-Headshot-Casual-907x1180.jpg 907w, https://blogcms.23andme.com/wp-content/uploads/2012/11/Emily-Headshot-Casual-scaled.jpg 1968w" sizes="auto, (max-width: 231px) 100vw, 231px" />
(Editor&#8217;s note: Here&#8217;s a <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/Drabant-Poster-v7.pdf" target="_blank" rel="noopener noreferrer">link</a> to Emily&#8217;s poster presented at ASHG.)
Earlier this year 23andMe began surveying its customers to study the genetics of sexual orientation. It is now the largest genome-wide association study of sexual orientation ever done.
<h6>Customer Interest</h6>
While our researchers have a strong scientific interest in looking at the understudied role genetics plays in sexual orientation, we started this work, in part, because of the large demand from our customers themselves. It is the most requested topic we’ve ever studied.
But we also began this work because the role genetics plays in sexual orientation is not well studied. The limited work done so far in the field suggests a person’s sexual orientation is partly heritable and our pioneering crowd-sourced research platform offered an opportunity to pursue this work.
As 23andMe scientist and research manager Emily Drabant said in a recent interview, we know it is a controversial area.
“I think it’s been hard for groups to get funding to pursue it,” Emily <a href="http://www.advocate.com/print/print-issue/current-issue/2012/10/30/can-your-genes-explain-sexual-orientation">told the Advocate</a> this month. “And maybe also taboo for various research groups to really focus on&#8230; But that’s the request that came up again and again and again: ‘Can you study sexual orientation? Why aren’t you studying sexual orientation?’”

<h6>There is No &#8220;Gay Gene&#8221;</h6>
We decided to launch the study.
“I think that the 23andMe platform is very conducive to doing research on sensitive topics because people are providing information anonymously from home,” she said. “So we were really excited to launch a study in that area.”
As Emily said our “objective is to be objective.”
Today we are presenting the first return of data we’ve gleaned from our work on sexual orientation at the American Society of Human Genetics annual meeting in San Francisco. As we continue to collect data and expand the number of participants we hope to improve the power of this study,
While our researchers did not find – nor did they expect to find – a<a href="https://www.ncbi.nlm.nih.gov/pubmed/22720828"> “gay gene”</a> or even a genetic variant that has a strong association with homosexuality, they did find some interesting routes of inquiry.
<h6>Participation in research</h6>
More than 24,000 customers have participated in the study so far, reflecting the high level of interest in the topic.
A little more than five percent of those people who took the survey identify themselves as solely homosexual, while about 74 percent identified themselves as solely heterosexual. The remainder identified themselves as either mostly, or somewhat homosexual or mostly or somewhat heterosexual, or they identified themselves as bisexual.
In the scientific literature, there are small heritability studies of identical and non-identical twins that have suggested sexual orientation is the product of both genetics and environmental factors.
But the strength of the evidence in these studies is limited due to conflicting reports and their small sample sizes.
<h6>Possible Genetic Associations</h6>
A few of the<a href="https://www.nature.com/ng/journal/v11/n3/abs/ng1195-248.html"> studies</a> have pointed to possible candidate genes associated with homosexuality. Those were found on the X chromosome, specifically on band Xq28,. However, these studies have been small and only in men. When our researchers looked at band Xq28 they found no direct associations.
We found some gene regions where associations were suggestive. Yet, we did not find any that reached a statistical threshold of genome-wide statistical significance.
We believe that as the number of people participating in the study increases the role of the currently suggestive genetic associations may become clearer.
Our researchers did replicate previous findings that are unrelated to genetics. These associations and others will help in guiding our research. We will continue to conduct our work into the genetics of sexual orientation.
In developing the study we worked with multiple organizations to review our survey questions and help ensure that our research is conducted in an informed and sensitive manner. While these questions cover sensitive topics that some people may view as private, we were encouraged by the numbers of people willing to participate.
The work continues.

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