<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-11797" title="CeCephoto" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/CeCephoto.jpg" alt="" width="114" height="162" />
December was a busy month for 23andMe and in the midst of the hubbub we put out <a href="https://www.23andme.com/ancestry_composition_guide/" target="_blank" rel="noopener noreferrer">Ancestry Composition</a>, an amazing feature that gives finer detail of an individual’s heritage going back generations.
Since its release, we’ve heard some great feedback saying the feature has set a new standard in the industry. Yeah, we think so too, but don’t just take our word on it.
Genetic genealogist CeCe Moore recently reviewed the top genetic ancestry tools on the market. Her conclusion after looking at them all? 23andMe’s Ancestry Composition is “the most informative and flexible” of the lot.
CeCe hasn’t been the only one to review the new feature favorably, particularly for its ability to return meaningful results for people of mixed ancestry, but as always she does so with a lot of insight into how to use these tools.
In the review, CeCe notes that she has relationships with all the services she reviews, including 23andMe, where she advocates on behalf of customers as one of our volunteer Ancestry Ambassadors.
Her popular blog Your Genetic Genealogist has become a go-to site for anyone interested in using both traditional genealogical search tools along with genetics. CeCe, who also works as a television producer and is a Southern California Regional Coordinator for the International Society of Genetic Genealogy, has a lot to say about Ancestry Composition and even has a few nits about the feature. We will address many of them over time.
Take a look at CeCe’s review and see what else she has to say about the wonderful world of genetic genealogy.

23andMe Blog

23andMe Blog Team

23andMe’s Ancestry Composition Driving Circles Around the Rest

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-17056" title="Christmas Tree" src="https://blog-api.23andme.com/wp-content/uploads/2012/12/ChristmasTree-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/12/ChristmasTree-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/12/ChristmasTree.jpg 424w" sizes="auto, (max-width: 300px) 100vw, 300px" />
If you could just get your Christmas tree to spit into a tube and extract some DNA, you might learn a lot about your holiday decoration.
For starters, you might be able to tell where it originated. Plant genetics, like animal genetics, is influenced by geography. A team of Douglas fir tree researchers, under the direction of Andrew Eckert and David Neale from the University of California, Davis, have discovered seven genetic markers with frequencies that vary with location across the Pacific Northwest. These markers were found in genes associated with cold-hardiness.
The implication is that northern Douglas fir trees, exposed to blustery winter weather, evolved to be genetically different from their southern-dwelling cousins. Their find, although not surprising, is interesting; science is now beginning to understand exactly how genetic variation leads to the cold-hardy trees of the north.
<img loading="lazy" decoding="async" class="aligncenter wp-image-17057 size-full" title="TreeNeedles" src="http://35.88.189.111/wp-content/uploads/2012/12/TreeNeedles.jpg" alt="" width="420" height="286" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/12/TreeNeedles.jpg 420w, https://blogcms.23andme.com/wp-content/uploads/2012/12/TreeNeedles-300x204.jpg 300w" sizes="auto, (max-width: 420px) 100vw, 420px" />
The real cutting edge of Christmas tree research, however, lies with cut trees and the mess that they make. Anyone with firsthand experience with a fresh-cut Christmas tree knows that shed needles are the price paid for that fresh piney scent. With an ever-earlier start to the Christmas season, needle retention research represents an opportunity; a tree which could retain its needles from Thanksgiving until well past New Year’s would be a commercial hit.
Gary Chastagner of the Washington State University, sometimes referred to as “Mr. Christmas Tree,” is leading a scientific quest for the holy grail of Christmas trees: better needle retention. The $1.3 million dollar project will use RNA sequencing and the “Denmark Needle Retention Scale” (which Chastagner developed with Danish tree scientists) to look for genetic associations.
<div style="padding: 10px; margin-left: 10px; margin-bottom: 10px; float: right; border: 1px solid #ccc; width: 280px;">
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-12163" title="small_23andMe_logo" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/JRBgdIBXKIeVIdETJrxYIw_ttam_logo.jpg" alt="" width="24" height="40" />
Need a last-minute holiday gift to put under your tree?   <a href="https://www.23andme.com/store" target="_blank" rel="noopener">Visit our store</a>!
</div>
Mr. Christmas Tree’s undertaking is an ambitious one, but could herald great news for those of us who prefer their pine needles on the Christmas tree and not in the vacuum cleaner. My next request? A tree which grows its own lights.

The Genetics of Your Christmas Tree

<img loading="lazy" decoding="async" class="aligncenter wp-image-10750 size-full" title="top10ten" src="http://35.88.189.111/wp-content/uploads/2011/12/top10ten.jpg" alt="" width="306" height="345" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten.jpg 306w, https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg 266w" sizes="auto, (max-width: 306px) 100vw, 306px" />
Take a moment to look back at the ten most interesting and significant genetic findings of 2012 or at least the ones that drew our attention.
In the last 12 months we’ve seen huge strides in genetic research giving us new insight into serious conditions such as Alzheimer’s as well as new treatments for cystic fibrosis. And in the last year scientists have made huge leaps in our understanding of the human genome itself with the culmination of a massive study of the so-called uncharted non-coding portions of our DNA – the ENCODE project.
Researchers at 23andMe continue to contribute to some of these important findings with groundbreaking work on the relative importance of family health history versus genetics when determining disease risk and a new method to screen for the genetic risk for certain types of blood disorders.
It’s been another great year of discovery and here’s our top ten.
<img loading="lazy" decoding="async" class="alignright wp-image-5677 size-full" title="alzheimers" src="http://35.88.189.111/wp-content/uploads/2009/12/alzheimers.jpg" alt="" width="435" height="310" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/12/alzheimers.jpg 435w, https://blogcms.23andme.com/wp-content/uploads/2009/12/alzheimers-300x214.jpg 300w" sizes="auto, (max-width: 435px) 100vw, 435px" />
1) &nbsp;A Genetic Variant Protective Against Alzheimer’s Disease – The T version of rs63750847 &nbsp;– also known as the A673T variant in the APP gene – was associated with about five times lower odds of <a href="https://www.ncbi.nlm.nih.gov/pubmed?cmd=Search&amp;db=pubmed&amp;term=22801501">Alzheimer&#8217;s</a>. While this is a very rare variant – only about one in 10,000 people of European descent have it – the research, done by the Icelandic company deCODE Genetics in association with Genentech, adds more insight into the development of the disease. Many mutations in the APP gene actually cause Alzheimer’s through an overproduction of beta amyloid protein in the brain (a hallmark of Alzheimer’s), but the protective variant appears to do the opposite, according to the study. New drugs built on this finding could help protect against Alzheimer’s, or even the mental ravages of normal aging. 23andMe does offer customers reports on their own Alzheimer’s risk based on the more common APOE variant, as well as a report on this protective APP variant.
<img loading="lazy" decoding="async" class="aligncenter wp-image-15558 size-full" title="encode" src="http://35.88.189.111/wp-content/uploads/2012/09/encode.jpg" alt="" width="574" height="334" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/09/encode.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2012/09/encode-300x175.jpg 300w" sizes="auto, (max-width: 574px) 100vw, 574px" />
2) &nbsp;ENCODE Project Creates a Map of the Uncharted Areas of the Genome – Much of the work in genetics has been focused on the areas in our DNA that code for proteins, but this is a very small part – just 1 percent – of our genome. The<a href="https://www.wired.com/wiredscience/2012/09/encode-human-genome/"> ENCODE project</a>, which has enlisted more than 400 scientists over several years, is attempting to map the rest of it, the so called<a href="https://blog.23andme.com/news/a-map-of-the-uncharted-genome/"> “dark matter” of the genome</a>. What they’ve created is the foundation of a sort of encyclopedia of the functions of many of these uncharted areas of the genome. It’s a resource that will be used by many scientists in the years to come.
3) &nbsp;Noninvasive Prenatal Sequencing – Two separate research groups reported within weeks of each other that they had<a href="https://blog.23andme.com/health-traits/noninvasive-sequencing-of-a-human-fetus/"> successfully sequenced a human fetus</a> and done so noninvasively. The breakthrough offers an opportunity for earlier prenatal screening than currently offered with amniocentesis or chorionic villous sampling (CVS) without the same risks for a developing fetus.
4) &nbsp;New insights into a group of rare blood disorders known as MPNs – In less than a year, 23andMe recruited a 1,000-person cohort with a group of rare blood disorders known as myeloproliferative neoplasms, or MPNs. Within months of reaching that goal we began reporting our<a href="https://blog.23andme.com/23andme-research/novel-genetic-findings-for-myeloproliferative-neoplasms/"> new findings</a>. Among them were replications of known genetic associations with the disease as well as new ones including an association between these conditions and variants in the TERT and ATM genes.
<img loading="lazy" decoding="async" class="aligncenter wp-image-6487 size-full" title="neanderthal_bones" src="http://35.88.189.111/wp-content/uploads/2010/05/neanderthal_bones.jpg" alt="" width="350" height="421" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/neanderthal_bones.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2010/05/neanderthal_bones-249x300.jpg 249w" sizes="auto, (max-width: 350px) 100vw, 350px" />
5) &nbsp;New Insights into Human Origins and Evolution – Several different studies highlight ongoing research on our early ancestors and the evolution of modern humans. Beyond the compelling tale of our early ancestors, the journey out of African and the intermixing with Neanderthals and Denisovans, the new research also gives us insight into the<a href="https://www.wired.com/wiredscience/2012/11/recent-human-evolution-2/"> significance of rare genetic variants</a>.
6) &nbsp;Family Medical and Genetics Used Together to Predict Disease – 23andMe <a href="https://blog.23andme.com/23andme-research/using-genetics-and-family-history-for-health/">developed a model</a> to show that both family history and genetic tests have strengths in predicting disease risks, but when used together they provide the best predictor for disease.
&nbsp;7) &nbsp;Older Dads’ Biological Clocks – For a long time prospective fathers could wile away the years without much worry about when to have kids, while prospective moms were constantly checking their ticking biological clocks.<a href="https://www.nature.com/nature/journal/v488/n7412/full/nature11396.html"> A study</a> may turn the tables a bit, pushing men to think a little more about how long they wait to start a family. The study says that as men grow older the number of de novo mutations they<a href="https://blog.23andme.com/health-traits/for-older-dads/"> pass onto their children increases</a>, and preliminary studies suggest that the more de novo mutations passed onto a child the higher the risk that child could develop certain types of conditions, such as autism and schizophrenia. That said becoming a dad can actually be good for you. There’s evidence linking <a href="https://blog.23andme.com/health-traits/ah-fatherhood-dirty-diapers-skinned-knees-and-healthier-hearts/">fatherhood to healthier hearts.</a>
8) &nbsp;Breast Size Matters, But Not How You Think – Researchers at 23andMe found that genetic factors influence breast size and that in turn these factors are connected to the genetics of breast cancer.
&nbsp;9) &nbsp;New Treatment for Cystic Fibrosis – &nbsp;Early in 2012 the FDA approved ivacaftor (Kalydeco ®) as a new treatment for cystic fibrosis, one of the most common recessively inherited diseases. The drug<a href="https://online.wsj.com/article/SB10000872396390444024204578046911440223842.html?mod=WSJ_TechInnovationAwards1012_MiddleSecondSummaries%20."> developed by Vertex Pharmaceuticals Inc</a>. is the first treatment that targets one of the underlying causes of cystic fibrosis – a specific genetic mutation – rather than its symptoms.
10) &nbsp;Autism Study Reveals No Genetic Associations – It may be strange to <a href="https://blog.23andme.com/health-traits/autism-study-reveals-no-genetic-associations/" target="_blank" rel="noopener noreferrer">point to a study that finds no genetic associations</a>, but sometimes an absence of evidence can hint toward new routes of study. Cases of Autism spectrum disorders – which run the gamut from mild to severe impairment and include autism, Asperger syndrome and other disorders – have become increasingly common in the U.S. Why that is, is not so easy to discern. The lack of an association doesn’t mean that genetics isn’t important. In fact twin studies suggest that autism is at least moderately heritable, but it may be that genetic variations play a smaller role than rare mutations or copy number variation in the risk of a person developing autism.

Top Genetic Findings of 2012

<img loading="lazy" decoding="async" class="aligncenter wp-image-17071 size-full" title="Canadian Flag" src="http://35.88.189.111/wp-content/uploads/2012/12/iStock_000013180750XSmall.jpg" alt="" width="425" height="282" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/12/iStock_000013180750XSmall.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2012/12/iStock_000013180750XSmall-300x199.jpg 300w" sizes="auto, (max-width: 425px) 100vw, 425px" />
You’ve got to love the lead sentence of the<a href="http://www.theglobeandmail.com/news/national/time-to-lead/would-you-make-your-dna-and-health-data-public-if-it-may-help-cure-disease/article6090038/?page=all"> Daily Globe and Mail story</a> about the launch of a Canadian Genome Project:
“Jill Davies is Canuck One.”
<h2>Genome Canada</h2>
Ms. Davies is the first of what researchers hope will be 100,000 people to join the<a href="http://personalgenomes.ca/"> Personal Genome Project in Canada</a>.
Like its counterpart in the United States, which was started in 2005 by Harvard’s George Church, the Canadian effort aims to create a public and mostly anonymous database of sequenced individuals. (Prof. Church is also on 23andMe’s scientific advisory board.)
North Americans aren’t the only ones building databases to fuel scientific breakthroughs. A similar program is expected to launch in Britain next year, while the<a href="http://www.genomics.cn/en/navigation/show_navigation?nid=5658"> Beijing Genomics Institute</a> wants to sequence a million people in China. Another effort exists to sequence 100 Arabs in Saudi Arabia as well.
<h2>Personal Genome Project</h2>
The Personal Genome Project in the US has already become an essential reference data source for researchers, including scientists here at 23andMe. The reference data has become instrumental in the development of genomic medicine. Still, the data has also helped advance our understanding of basic human biology and the origins of modern humans.
Stephen W. Scherer, the director of a $100 million genomic-medicine institute at the University of Toronto, spearheads the Personal Genome Project—Canada. Like in the US, the hope in Canada is that over time, as the costs for full-genome sequencing continue to fall, sequencing will become more common, and the growing database will fuel future discoveries.
<h2>Full Genome Sequencing Era</h2>
23andMe is also<a href="https://blog.23andme.com/?p=16963"> working towards</a> the era of full-genome sequencing. Right now, 23andMe offers genotyping, which looks at about a million points, or single-nucleotide polymorphisms (SNPs), in a person’s genome to glean health and ancestry information, rather than the entire sequence.
But in the last year or two, we’ve worked on several sequencing projects, including our Exome Pilot and a project that sequences individuals with rare mutations associated with Parkinson’s disease.
In contrast to genotyping, sequencing is a method used to determine the exact sequence of a certain length of DNA. You can sequence a short piece, the whole genome, or parts of the genome  – such as the “exome,” the part formed by exons, the coding portions of our genes. These provide the blueprint for the creation of proteins.
Depending on the location, a given locus may include some DNA that varies between individuals, like SNPs, and regions with little or no variation. Thus, sequencing can be used to genotype someone for known variants and identify variants that may be unique to that person. Finally, whereas genotyping requires upfront targeting of precise base pairs, sequencing only involves targeting the locus or the genomic region and, therefore, can discover additional genetic variation.
<h2>The Power of Big Data</h2>
Unfortunately, sequencing technology has not yet progressed to the point where it is feasible to sequence an entire person’s genome quickly and cheaply.
It took the Human Genome Project over 10 years of work by multiple labs to sequence the whole genomes of just a few individuals to the tune of almost three billion dollars. But it is getting cheap enough that projects like the Personal Genome Project are setting their sights on sequencing hundreds of thousands or even millions of people. Combined with information about people’s health and traits, these huge data sets are poised to transform medical research in the years to come.

DNA, Eh – Canadian Genome Project in the News

<img loading="lazy" decoding="async" class="aligncenter wp-image-17038 size-full" title="Mike &amp; Eric" src="http://35.88.189.111/wp-content/uploads/2012/12/Mike-Eric.jpg" alt="" width="1721" height="1190" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/12/Mike-Eric.jpg 1721w, https://blogcms.23andme.com/wp-content/uploads/2012/12/Mike-Eric-300x207.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/12/Mike-Eric-768x531.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/12/Mike-Eric-1024x708.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/12/Mike-Eric-880x608.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/12/Mike-Eric-1180x816.jpg 1180w" sizes="auto, (max-width: 1721px) 100vw, 1721px" />Mike and Eric
Our team rolled out a new feature called<a href="https://www.23andme.com/about/press/ancestry_composition_2012"> Ancestry Composition</a> last week that will tell you more about what you’re made of, or more precisely, the geographic origins of your DNA.
Principal Product Scientist Mike Macpherson, former Research Scientist Chuong “Tom” Do, and Computational Biologist Eric Durand led the team that spent many months developing an innovative and accurate tool to determine your ancestry going as far back as 500 years.
One of the stunning aspects of Ancestry Composition is that it&#8217;s based on the newest advances in machine learning and thus will get better over time.
“Ancestry Composition is truly innovative. Not only does it use public-genetic databases for reference, it also uses the data set from 23andMe, so as more people join 23andMe, the more powerful and more accurate Ancestry Composition will become,” Mike said.
<img loading="lazy" decoding="async" class="aligncenter wp-image-17039 size-full" title="European and Native American Ancestry" src="http://35.88.189.111/wp-content/uploads/2012/12/Native-American.jpg" alt="" width="807" height="468" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/12/Native-American.jpg 807w, https://blogcms.23andme.com/wp-content/uploads/2012/12/Native-American-300x174.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/12/Native-American-768x445.jpg 768w" sizes="auto, (max-width: 807px) 100vw, 807px" />
The feature can very accurately detail the mosaic of your ancestral background, distinguishing British and Irish ancestry, for instance, or telling you the breakdown of your Scandinavian or Italian ancestral origins. It’s also a powerful tool for finding Ashkenazi Jewish ancestry.
Right now, Ancestry Composition is particularly interesting for people of mixed ancestry: individuals who have Native American, Latino, African American or mixed European heritage.
It’s a great tool already and promises to keep getting better.
An update is planned in the near future to add more detail for people with African and Asian ancestry.
This will give a finer level of detail and help customers zero in on the regions of their ancestral origins.
But the feature can be enlightening for people of any background offering a view of an individual’s genetic ancestry, breaking down the mix of ancestry by percentage and putting it all into an intuitive visualization.
There are several other bells and whistles for those who want to dive in and find a few fun surprises.
One of those is the Split View, which gives great detail for customers who have at least one parent also in the 23andMe community. If at least one parent has been tested and is linked through the Family Tree feature, Ancestry Composition’s Split View will tell you what mix of your ancestry comes from your mother and <a href="https://www.23andme.com/dna-ancestry/">what mix of your ancestry</a> comes from your father.
Another add-on to the feature is a Chromosome View, which “paints” the ancestry on each of your 23 chromosomes.
If you’d like to see more detail on how this has done you can look both at a<a href="https://www.23andme.com/ancestry_composition_guide/"> white paper</a> put together by Mike or a recent<a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/20121027_ancestry_painting_methods_poster.pdf"> poster presented at the annual meeting of the American Society of Human Genetics</a>, which outlines the technique.
The new feature replaces 23andMe’s “ancestry painting” and “global similarity,” two tools that were equally pioneering when they were first introduced.
But with Ancestry Composition 23andMe breaks new ground and sets a new standard for determining genetic ancestry.<img loading="lazy" decoding="async" class="aligncenter wp-image-17041 size-full" title="split view" src="http://35.88.189.111/wp-content/uploads/2012/12/split-view.jpg" alt="" width="1744" height="911" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/12/split-view.jpg 1744w, https://blogcms.23andme.com/wp-content/uploads/2012/12/split-view-300x157.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/12/split-view-768x401.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/12/split-view-1024x535.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/12/split-view-880x460.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/12/split-view-1180x616.jpg 1180w" sizes="auto, (max-width: 1744px) 100vw, 1744px" />

23andMe’s Newest Feature Explores Your Ancestry

<img loading="lazy" decoding="async" class="aligncenter wp-image-17010 size-full" title="23andMe-Anne-001" src="http://35.88.189.111/wp-content/uploads/2012/12/23andMe-Anne-001.jpg" alt="" width="165" height="236" />
Today we’re announcing <a href="https://www.23andme.com/about/press/12_11_2012/" target="_blank" rel="noopener noreferrer">some big news</a>. I don’t want this moment to go by without a note of gratitude to our customers and those who have been advocates for 23andMe over the years.
We have come a long way together.  Because of you we pioneered the use of personal genetics.  You are helping us establish a new medical era that is defined by wellness, disease prevention, and personalized care.  You also helped us create a novel research platform.  By leveraging online tools, social networking and crowd sourcing, and combining them with genetics, we created a platform that has set the stage to transform the way pharma companies and academics do health and wellness research.
We want to do more.
23andMe has raised more than $50 million in new financing with the goal of reaching one million customers.  To help us reach our goal, we are happy to announce today, that we are dropping our price to $99.
One million customers can be the tipping point that moves medicine into the molecular era.  Hundreds of you have written to us about how genetic information changed your lives and, in some cases, saved your lives.  We believe genetics should be an integral part of health care and we will work hard in the coming year to help genetics become part of everyone’s health and wellness.
A community of one million individuals will also benefit the world.  A genetic data resource of this magnitude has enormous potential to address unanswered questions related to the contributions of genes, the environment and your health.  Understanding these factors and their interactions could lead to major improvement in diagnostics, preventive medicine and therapeutics [<a href="https://www.nature.com/nature/journal/v429/n6990/abs/nature02628.html" target="_blank" rel="noopener noreferrer">Collins NATURE | VOL 429 | 27 MAY 2004</a>].
This change is not just about a new price point for personal genetic testing. It is about an ambitious plan that could transform medicine for generations to come.
If you have questions about the new pricing please go to our FAQ or email your questions to customercare@23andMe.com.
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-10785" title="sig_small_transparent" src="https://blog-api.23andme.com/wp-content/uploads/2012/01/sig_small_transparent-300x125.jpg" alt="" width="300" height="125" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/01/sig_small_transparent-300x125.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/01/sig_small_transparent.jpg 318w" sizes="auto, (max-width: 300px) 100vw, 300px" />

One Million Strong

<img loading="lazy" decoding="async" class="alignright wp-image-17015 size-medium" title="MPN-progression" src="http://35.88.189.111/wp-content/uploads/2012/12/MPN-progression-e1354839090623-300x228.jpg" alt="" width="300" height="228" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/12/MPN-progression-e1354839090623-300x228.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/12/MPN-progression-e1354839090623.jpg 700w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Earlier this year we met our goal of enrolling 1,000 people in a community with a collection of rare blood disorders known as<a href="https://blog.23andme.com/23andme-research/snpwatch/snpwatch-the-jist-on-jak2-and-myeloproliferative-neoplasms/"> myeloproliferative neoplasms</a>, or MPNs.
<h2>Presenting Findings</h2>
Since then, we’ve been able to replicate known genetic associations with these rare disorders and make new findings. In the next few weeks, we’ll begin detailing some of these exciting discoveries.
First, 23andMe’s Principal Scientist in Statistical Genetics, David Hinds, PhD, will offer up some of those findings at the annual meeting of the American Society of Hematology in Atlanta. With him in Atlanta will be Kim Barnholt, PhD, the project manager for our MPN initiative. In addition, the members of our unpaid MPN advisory board, Dr. Ross Levine, Dr. Jason Gotlib, Dr. James Zehnder, and Dr. Ruben Mesa, will also be attending the meeting.
Dave will discuss various topics, including discovering new associations between these rare blood disorders and variants in the TERT and ATM genes.
<h2>Telomeres</h2>
The TERT gene encodes for telomerase, a protein involved in telomere maintenance.
Telomeres are repetitive sequences at the ends of chromosomes that have an important role in maintaining the integrity of chromosomes during cell division.  Telomeres tend to shorten as cells divide, and telomere shortening is thought to be a key aspect of aging at the cellular level. When its telomeres reach a certain minimum size, a cell loses its dividing capacity.  In cell types that must continue dividing throughout life, such as stem cells in the bone marrow, telomerase prevents this telomere shortening.
In some tumors, cancer cells express TERT, which prevents progressive telomere shortening during cell division. This can enable these cells to override the normal cell aging process and divide without limits, thus leading to excessive growth.
<h2>Changes in Blood Vessel Structure</h2>
The ATM gene is involved in the cell’s response to DNA damage.  Mutations in the ATM gene are responsible for ataxia telangiectasia, a rare disease with symptoms that include poor coordination and changes in blood vessel structure, as well as sensitivity to radiation and a substantially higher risk of blood cancers such as leukemia and lymphoma. The more common variant we identified in ATM has previously been associated with an increased risk of breast cancer and chronic lymphocytic leukemia.
We will also present preliminary data on our ability to detect some somatic mutations—these are mutations that a person isn’t born with but develops during their lifetime. Specifically, using our “V3” 23andMe genotyping arrays and saliva DNA, we can detect a mutation in the JAK2 gene commonly found in patients with certain MPNs.
The probes for this variant were part of the custom content we included in the design of our V3 chip.
We plan to offer more details on these findings in the coming weeks, but this work clearly points to the power of our research model. In a little more than a year, we recruited patients with this rare blood disorder and started generating new discoveries about the disease.

New Discoveries about Rare Blood Disorders from 23andMe

<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

<img loading="lazy" decoding="async" class="alignright wp-image-3440 size-medium" title="Abstract DNA" src="http://35.88.189.111/wp-content/uploads/2009/04/istock_000002166527xsmall-300x219.jpg" alt="" width="300" height="219" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/04/istock_000002166527xsmall-300x219.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/04/istock_000002166527xsmall.jpg 406w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Earlier this month Public Health Genomics published<a href="http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract&amp;ArtikelNr=343792&amp;Ausgabe=0&amp;ProduktNr=224224"> a paper by a team of Swiss researchers</a> that reinforces the growing body of work showing both a strong consumer interest in DNA testing, and positive experiences with personal genetic testing.
In this study, the participants were life science students at the University of Zurich who purchased the kits from 23andMe at an educational discount. While these participants had more genetic expertise than the average consumer, their responses were not very different from people in other recent studies. 
Many of the respondents described their experience as “fun” and said part of their motivation for getting genotyped was to advance genetic research.
“Their experiences provide valuable insights into the role of personal curiosity and altruism (fostering medical research) as motivations for testing and the utility attributed to both,” the study concludes.
<h6>DNA Testing Does Not Induce Anxiety</h6>
Ninety percent of them described their experience as positive, and a majority indicated the test would impact how they thought about their health.
the study also appears to add more evidence that direct to consumer testing doesn’t induce fear. Although a little more than half the respondents had some concerns about confidentiality and privacy, only one described those as  “serious concerns.”
We’ve written several times about other studies that show people don’t freak out about what they learn from their genetic information. People also say they find value in getting genotyped.
<h6>Motivations for DNA Testing</h6>
This study – the first to look at direct to consumer genetic testing in Europe – shows much the same as previous studies done in the United States. But unlike most of the other studies, it also delves into both why people get genotyped and how they look at that information.
<img loading="lazy" decoding="async" class="aligncenter wp-image-16940 size-medium" title="Motivations for DNA testing for consumers" src="https://blog-api.23andme.com/wp-content/uploads/2012/11/updated-swiss-study-graph-300x181.jpg" alt="" width="300" height="181" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/11/updated-swiss-study-graph-300x181.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/11/updated-swiss-study-graph.jpg 362w" sizes="auto, (max-width: 300px) 100vw, 300px" />
In another recent study presented at the annual meeting of the American Society of Human Genetics in San Francisco, Sandra Lee, Ph.D., a Senior Research Scholar at the Stanford Center for Biomedical Ethics, presented findings from a study on 23andMe customers. Most of those in her study freely shared their genetic data with family and friends. Many of them also posted their results on Facebook. This was also the case in the Swiss study, in which about 64 percent of those asked said they’d share their results with family.
Another finding from the Swiss study was that consumers were motivated not just by curiosity but a desire to participate in research in some way.
“23andMe gave them an opportunity they otherwise would not have had to help advance research,” the paper said. “Individual contributions to research were discussed in terms of ‘investments’ in the future. (The) returns being the acceleration of medical discovery and better medicine.”

Latest Posts — Page 142