<img loading="lazy" decoding="async" class="alignright size-full wp-image-6277" title="mtDNA tree" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/mtDNA-tree.jpg" alt="" width="400" height="188" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/mtDNA-tree.jpg 482w, https://blogcms.23andme.com/wp-content/uploads/2010/04/mtDNA-tree-300x141.jpg 300w" sizes="auto, (max-width: 400px) 100vw, 400px" />

It&#8217;s springtime for 23andMe&#8217;s Maternal Line tree!


Each one of us can trace our ancestry back through our mother, our mother&#8217;s mother, her mother, and so on. And there is one piece of our DNA that has been inherited along that exact, maternal line.
By examining mutations in this segment of DNA, called mitochondrial DNA because it resides in parts of the cell called mitochondria, we can learn about our line of maternal ancestors &#8211; in particular, where these ancestors came from. Sets of similar, closely related maternal lines are called &#8220;haplogroups&#8221; and are given labels such as &#8220;J1c3&#8221; or &#8220;X2b&#8221;. Numerous researchers around the world study these maternal haplogroups to better understand where they originated and where people with the haplogroups have migrated over the course of thousands of years.  
23andMe interprets the haplogroups for customers based on the publications of these researchers.
All maternal haplogroups are themselves related; the relationships are represented as a &#8220;maternal line tree&#8221;.   23andMe&#8217;s version of that tree has just experienced both pruning and new growth via an extensive update.   With these changes, a customer&#8217;s particular branch (maternal haplogroup) may or may not have changed, but, overall, this new tree is far bushier, with over 1500 different haplogroup assignments possible, and over 870 haplogroups actually assigned to customers.
 
 
 
<h5>Why update the haplogroups? 
 
</h5>

Maternal haplogroups are of greatest interest if (a) they have a known history or (b) they enable people to discover others who are related to them. Scientists are continually revising the tree that indicates which mutations define each maternal haplogroup, and how all the haplogroups are related. The more up-to-date the tree used for haplogroup assignments is, the more accurate and more meaningful those assignments are. Up-to-date haplogroups enable our customers to answer questions such as the following:


a) Which haplogroup histories are relevant to me?
Your maternal haplogroup and the maternal haplogroups of your ancestors provide insights into your ancestry. Let&#8217;s say your haplogroup under 23andMe&#8217;s previous tree was H2. The known history for haplogroup H2 is very general; women with this haplogroup survived and reproduced very successfully in Europe during the Last Ice Age. Let&#8217;s say your haplogroup under 23andMe&#8217;s new tree is now H2a2. While H2 is common throughout all of Europe, research has shown that H2a is concentrated near the Caspian Sea. The history for H2a2 has yet to be written, but eventually we’ll understand, possibly through 23andMe’s research, the origin and migration history of this haplogroup that branches off from H2a.


b) To whom am I most similar?
Who are your maternal line cousins? In general the higher resolution the haplogroup, the more meaningful the sharing of a haplogroup. For example, if your haplogroup is H2, you share that haplogroup with over 600 23andMe customers; on the other hand, if your assignment is H2a2b, you share that with just over 60 customers. The common ancestor of everyone with H2a2b lived far more recently than the common ancestor of everyone with H2. People with a more specific haplogroup can begin to ask, where are we all from?   Where did our common ancestor live, and when?
23andMe also aims for consistency with other genetic services.   If all such services are using the same haplogroup definitions, then maternal haplogroups are comparable across services. 
 
<h5> 
Steps in the update 
</h5>

In the summer of 2007 when 23andMe developed its initial Maternal Line feature there was no publicly available, up-to-date tree. Therefore 23andMe used information from various sources to create a tree as up-to-date as possible and to assign haplogroups.  
Now there is a <a href="http://www.phylotree.org" target="_blank" rel="noopener noreferrer">publicly available tree </a>maintained by scientist Mannis van Oven of the Netherlands, with help from other geneticists and genetic genealogists (including 23andMe customers!). They update the tree regularly, and we used this tree (Build 7) as a guide for updating our Maternal Line feature. We recalculated every customer&#8217;s haplogroup and otherwise modified the feature to be consistent with the tree of Phylotree.org.
Many customers will see the same maternal haplogroup as in the past. Thousands, however, will see something new.  
Customer haplogroups have changed for two main reasons: (1) because of new definitions of the haplogroups, and (2) because of improved SNP results.
Some customers will see a higher resolution haplogroup.
For example, over 100 customers see a change from H4a to H4a1a. Other customers will see a major change in their haplogroup name, even though the history of that haplogroup has not changed. For example, some customers who had an H5a assignment will now see H36.   Others who had PreHV1 will now see R0. Some customers will see a less dramatic change: all customers with a J1a haplogroup will now see a J1c haplogroup. Many of these changes simply reflect relabeling of the tree by van Oven and other scientists.
The most common change is the removal of a &#8220;*&#8221; from a haplogroup label. The &#8220;*&#8221; is used to indicate that a person&#8217;s haplogroup cannot be assigned to a more specific subhaplogroup (for example H* means that a person is not in H1, H2, etc). As the maternal haplogroup tree grows, the &#8220;*&#8221; will necessarily change in meaning, so 23andMe has decided to do away with it and instead use a system in which we just assign people to the most specific haplogroup possible.  
So if you are definitely in haplogroup H, but not a part of H1, H2, etc , then you will simply be assigned to haplogroup H.
In some cases a haplogroup has been split. So some people with T2b2 will now have T2b4, while others continue to have T2b2. Sometimes customers will have less detailed haplogroups. For example, a few hundred customers go from T2b2 to T2b because T2b2 was redefined.
 
 
Send us your feedback! 

With over 870 distinct haplogroups assigned to more than 35,000 customers, we anticipate making further refinements.   If you have information regarding your mtDNA that is inconsistent with our update, please let us know at mito-feedback@23andme.com!
Reference: van Oven M, Kayser M. 2009. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30(2):E386-E394. http://www.phylotree.org. doi:10.1002/humu.20921

23andMe Blog

23andMe Blog Team

23andMe’s New and Improved Maternal Haplogroups

<img decoding="async" class="alignright size-full wp-image-6256" title="Child's Shoes" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/iStock_000009512488XSmall.jpg" alt="" width="315" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/03/iStock_000009512488XSmall.jpg 331w, https://blogcms.23andme.com/wp-content/uploads/2010/03/iStock_000009512488XSmall-274x300.jpg 274w" sizes="(max-width: 331px) 100vw, 331px" />
We’ve all fallen for a prank at some point or another — whether it be “hey, your shoe’s untied” or getting surprised at your birthday party after your friend asks you to “just pick up something from the house.” Most people become more wary as they get older but other people manage to remain fundamentally trusting and are now the sole reason spam mail continues to exist. But uncovering the genetic and environmental factors influencing gullibility would have important applications not only in Internet advertising but also in the understanding of every day human interactions.
In a study published this week in the Theoretical Journal of Social Genetics, a team of researchers from The Netherlands identified a genetic variant associated with gullibility in 3140 individuals of European ancestry who believed a spurious claim and 3315 European individuals who remained skeptical. Each copy of the G version of rs40110 increased the odds of being gullible by about 2.6 times. This variant is located within a gene called IPO11, which is involved in the transport of proteins within the cell, but the mechanisms through which this gene and rs40110 affect our ability to critically evaluate information remains unclear.
Hej Imgullbel, one of the scientists leading the study, hailed the finding as an essential step towards elucidating the genetics underlying persuasion and gullibility.
“The thought that we might be able to identify why some people are more easily taken advantage of than others — and potentially help them become less susceptible — is extremely motivating,” he announced in a press release. “I was always the butt of jokes growing up and I never knew why. Now I know a little bit — I am GG at rs40110, it turns out — and this is just the beginning.”
Indeed, other researchers studying the topic have found another gene &#8212; located near IPO11, and potentially linked &#8212; that influences gullibility, identified by studying the neurons in a part of the brain that is unusually active in people who tend to believe papers that invoke fancy brain scans.

Believe It Or Not, Researchers Find Genetic Variant Linked To Gullibility

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6247" title="mosquito" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/mosquito.jpg" alt="" width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/03/mosquito.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2010/03/mosquito-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Each year at least 350 million people around the world are infected by malaria parasites. &nbsp; More than one million people, mainly young children, succumb to the disease. &nbsp; But these numbers would be even higher if it weren’t for genetic adaptations that have evolved in populations living in areas where malaria is a common threat. &nbsp; New research, published recently in the<a href="https://dx.doi.org/10.1073/pnas.0912496107" target="_blank" rel="noopener"> Proceedings of the National Academy of Sciences</a>, suggests that just as malaria has put evolutionary pressure on humans, humans are causing genetic changes in malaria parasites.
Probably the most well known human genetic adaptation to malaria is the mutation in the hemoglobin gene that causes sickle cell anemia. &nbsp; When this DNA change is present in only one of a person&#8217;s two copies of the gene, the person is protected against infection with the P. falciparum type of malaria. &nbsp; Other people are protected from a different parasite, P. vivax, by virtue of a variation in the DARC gene. &nbsp; Two copies of this variation prevent a person&#8217;s red blood cells from expressing a protein called the Duffy antigen that is believed to be key for P. vivax invasion of the cells.
In Madagascar, however, it seems that the P. vivax malaria parasite may have evolved a way to infect red blood cells that does not depend on the Duffy antigen. &nbsp; If this research is substantiated by further studies, it could have important implications for vaccine development.
Blood from 661 school children from eight different study sites was analyzed for the Duffy antigen and evidence of P. vivax infection. &nbsp; Seventy-two percent of the children were Duffy-negative. &nbsp; Of these Duffy-negative kids, 8.8% showed evidence of P. vivax infection. &nbsp; A separate analysis of 183 people with symptoms of malaria showed that 17 were Duffy-negative. &nbsp; Although some of these people harbored multiple species of malaria parasites, nine had only P. vivax in their systems. &nbsp; Together these results show that Duffy-negative people are susceptible to P. vivax malaria. &nbsp; The authors point out, however, that Duffy-negative people were still less likely to experience P. vivax infection or symptoms than their peers, suggesting that invasion of their blood cells by the parasite may be somewhat impaired.
The researchers think that because people from populations that are predominantly Duffy-positive have moved into Madagascar over the past two millennia, the P. vivax parasites have had enough people in which to multiply and survive that they&#8217;ve had time to evolve new mechanisms of infection that allow them to get around the problem of Duffy-negativity.
More research will be needed to verify the findings of this study, but if these results are replicated, it will mean that researchers working to develop a vaccine against P. vivax will need to rethink their strategy.
Much of the work so far has focused on <a href="https://dx.doi.org/10.1186/1475-2875-7-S1-S9" target="_blank" rel="noopener">triggering an immune response</a> to the malaria parasite protein known to exploit the Duffy antigen for access to red blood cells. &nbsp; The idea is that if a person makes antibodies that block this protein, the end result will be the same as for people who are Duffy-negative–the parasite will be unable to infect red blood cells. &nbsp; But the authors of the current study suggest that if P. vivax can in fact utilize multiple pathways for invasion of human red blood cells, vaccine researchers should be aiming to immunize people against multiple proteins so as to cut off all avenues of infection.

Malaria Parasite May Have Found Way To Thwart Protective Genetic Variation

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6209" title="6Denisova_cave" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/6Denisova_cave.jpg" alt="" width="346" height="517" />Denisova cave from the outside. / Bence Viola. 
DNA isolated from a tiny bone fragment from the finger of a being that walked the earth between 30,000 and 50,000 years ago has possibly added a new branch to the human family tree.
<h6>denisovan</h6>
The piece of bone was found in the Denisova Cave in the Altai Mountains, Russia.   Thanks to the preserving effects of the area&#8217;s relatively chilly temperatures, researchers from the Max Planck Institute for Evolutionary Anthropology were able to recover mitochondrial DNA (mtDNA) suitable for sequencing.
Their results, published online today in the journal <a href="https://dx.doi.org/10.1038/nature08976" target="_blank" rel="noopener">Nature</a>, show that compared to present-day humans, mtDNA from the so-called &#8220;Denisova <a href="http://archaeology.about.com/od/hterms/g/hominin.htm" target="_blank" rel="noopener">hominin</a>&#8221; contains twice as many differences as do mtDNAs from Neanderthals.
<h6>Another Human Cousin</h6>
From this the researchers conclude that the Denisova hominin was a member of a previously unknown species of human ancestor.   Further analysis allowed them to estimate that the most recent common maternal ancestor shared by all three species lived about one million years ago.
&#8220;Their discovery is remarkable not just for the insight it gives into the human past.   For the first time a hominin has been described, not from the morphology of its fossilized bones, but from the sequence of its DNA,&#8221; wrote Terence A. Brow, in a News &amp; Views article that accompanied the Nature study.
There is evidence that both Neanderthals and anatomically modern humans were in the area of the Denisova cave at around the same time as the individual whose mtDNA was sequenced in the current study. This suggests that each wave of hominins that moved out of Africa and into Eurasia did not replace the last.   Instead, multiple lineages coexisted for long periods of time.
More work will be needed to definitively determine the relationship of the Denisova hominin to Neanderthals and modern humans.   Ongoing research is attempting to isolate nuclear DNA for further comparisons and to look for evidence of interbreeding.
<h6>Update 3/29/10</h6>
There&#8217;s quite a bit of discussion about whether or not the Denisova hominin really is a distinct species. A good place to learn more about the debate is Carl Zimmer&#8217;s blog The Loom.   <a href="http://theatavism.blogspot.com/2010/03/does-forty-thousand-year-old-finger.html" target="_blank" rel="noopener">The Atavism</a> also has a post about this topic.
<ul>
<li>Read more about this story at ScienceNews.</li>
<li>More from the Blog on ancient DNA:
<ul>
<li><a href="../2010/02/10/researchers-use-snp-analysis-to-paint-picture-of-an-ancient-human/" target="_blank" rel="bookmark noopener">Researchers Use SNP Analysis to Paint Picture of an Ancient Human</a></li>
<li><a href="../2009/02/12/researchers-announce-draft-version-of-complete-neanderthal-genome/" target="_blank" rel="bookmark noopener">Researchers Announce Draft Version of Complete Neanderthal Genome</a></li>
<li><a href="../2009/07/22/novel-techniques-suggest-neanderthal-populations-dwindled-in-the-face-of-expanding-humans/" target="_blank" rel="bookmark noopener">Novel Techniques Suggest Neanderthal Populations Dwindled in the Face of Expanding Humans</a></li>
</ul>
</li>
</ul>

Ancient DNA of An Extinct Human Ancestor

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6195" title="iStock_000001799352XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/iStock_000001799352XSmall.jpg" alt="" width="338" height="224" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/03/iStock_000001799352XSmall.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2010/03/iStock_000001799352XSmall-300x199.jpg 300w" sizes="auto, (max-width: 338px) 100vw, 338px" />
From rich brown to almost translucent white, human skin colors span a remarkable spectrum.
The evolutionary story of how we came to be such a varied species skin color-wise began around 40,000 years ago when the human groups that had left Africa and spread out along the southern coast of Asia began to move north.
When people lived near the equator, greater concentrations of the pigment <a href="https://en.wikipedia.org/wiki/Melanin" target="_blank" rel="noopener">melanin</a> in their skin, hair and eyes acted as a natural sunblock to protect them from high levels of cancer-causing ultraviolet radiation. But melanin also reduces the body&#8217;s production of vitamin D, which is stimulated by ultraviolet radiation. At higher latitudes, where vitamin D deficiency is more of a survival issue than skin cancer, genetic changes that reduced melanin production were favored by natural selection.
Although the overall theory of how non-African populations came to lose some of their color is pretty well accepted, there is still a lot to learn about the details.   
Much of the research has focused on European populations.   Now a new study, published recently in the journal <a href="https://dx.doi.org/10.1371/journal.pgen.1000867" target="_blank" rel="noopener">PLoS Genetics</a>, has identified a DNA variant involved in pigmentation that is specific to East Asian populations.
Scientists led by Esteban Parra of the University of Toronto focused their search for determinants of different shades of East Asian skin color on 10 SNPs in five genes already known to be involved in pigmentation.   They analyzed the DNA of 122 people with East Asian ancestry living in Canada, and combined the genetic information with quantitative measurements of skin color.
The scientists found a variant associated with a 1.3 melanin unit reduction in skin pigmentation.
Although this is a small difference (variations associated with pigmentation identified in other populations have had effects of around 3 melanin units per copy), the researchers calculate that this SNP accounts for 9% of the variation in skin color seen in the study population.
The researchers replicated their finding of an association of with skin pigmentation in a group of 207 Han Chinese people living in China, although the effect of the variation, and the percent of the variability in skin color explained, was somewhat smaller.
Genetic evidence has previously suggested that the transition from melanin-rich to melanin-poor skin took place independently in the groups that would eventually become the populations we now call European and East Asian.   The current study further supports this idea of &#8220;convergent evolution.&#8221;   is in OCA2, a gene that has also been associated with pigmentation in European populations.
The variations associated with lighter skin in Europeans are not found in East Asians, however, and the C version of has not been found in Europeans.
Further research in diverse groups will be needed to understand exactly how human pigmentation has evolved around the world, and when in our history these changes took place.

Genetics of Skin Color Differences in East Asians

<img loading="lazy" decoding="async" class="alignright size-full wp-image-1496" title="ribbon" src="https://blog-api.23andme.com/wp-content/uploads/2008/10/ribbon.jpg" alt="" width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/10/ribbon.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2008/10/ribbon-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
A paper published in the New England Journal of Medicine (NEJM) this week, entitled &#8220;<a href="http://content.nejm.org/cgi/content/short/362/11/986" target="_blank" rel="noopener">Performance of Common Genetic Variants in Breast-Cancer Risk Models</a>,&#8221; has led several media outlets to declare that common genetic variants have nothing to add when it comes to predicting breast cancer risk.   Here we&#8217;ll explain how the results of this study have been misinterpreted.
Researchers from the National Cancer Institute and other institutions looked at data from 5,590 women with breast cancer and 5,998 women without the disease.   These women, all between 50 and 79 years old, had participated in one of five studies, four in the United States and one in Poland.   Since it&#8217;s known already which women have or have had breast cancer, and which have not, the researchers were able to use their data, both genetic and non-genetic, to test the predictive power of different types of risk calculations.
The study tested five different models.   The &#8220;demographic model&#8221; considered only age, year of entry into the study and which study the woman was originally part of.   The &#8220;nongenetic model&#8221; added in several variables that are part of the so-called &#8220;Gail model,&#8221; which is the standard model used in clinical practice today to counsel women about their risk.   These variables were the number of first-degree relatives with a diagnosis of breast cancer, age at menarche, age at first live birth, and number of previous breast biopsies.   Two models used the demographic information plus genetic information for 10 SNPs (they differed in details of how the genetic risk score was calculated).   Finally, the &#8220;inclusive model&#8221; combined demographics, the Gail model and the genetic information.
The genetic models and the nongenetic model performed about the same, with genetics doing just a little bit better.   Perhaps not surprisingly, the best model was the one that used the most information.   With the inclusive model, which is based on genetic and non-genetic information, there was a net 12% improvement in risk classification over the nongenetic model for women with breast cancer.
So, SNPs did add something.   The improvement in prediction seen when SNPs are added to the nongenetic model is about the same as the improvement seen when the Gail model information is added to the simplistic demographic model.   Discounting the benefit of adding SNP information to the Gail model implicitly discounts the utility of the Gail model itself.   Peter Devilee and Matti A. Rookus made this very point in a <a href="http://content.nejm.org/cgi/content/short/362/11/1043" target="_blank" rel="noopener">NEJM editorial</a> that accompanied the study.
It&#8217;s also important to remember that the study of common variations and their effect on common diseases like breast cancer is a relatively young science.   Many more variants are bound to be discovered, and these will only help further refine risk predictions.
It&#8217;s true that there is a cost associated with collecting a person&#8217;s genetic information, while collecting the information needed for the Gail model is essentially free.   (In fact, a risk calculator based on the Gail model is available at the <a href="http://www.cancer.gov/bcrisktool/" target="_blank" rel="noopener">National Cancer Institute website</a>.) But for those people who do have their genetic information in hand, the current study shows that it can improve the estimation of their risk for breast cancer.   It should be remembered, too, that not everyone is fortunate enough to have access to their family medical history. Adoptees, for example, cannot get an accurate picture of their breast cancer risk from the Gail model.   For such women, the ability to use their own genetics to help assess their risk for breast cancer is an option that should not be dismissed.
Ultimately, it&#8217;s not about genetics vs. non-genetics &#8212; it&#8217;s about getting accurate estimates of risk to help doctors catch cancers early on, when they&#8217;re easiest to beat. Researchers should welcome any tool that can help them move closer to keeping more women healthy.   Giving up on genetics this early on in the game would be a real disservice.
Note: A similar study can be found in <a href="http://precedings.nature.com/documents/4295/version/1" target="_blank" rel="noopener">Nature Precedings</a>.   The results are consistent with the NEJM study regarding the improvement in risk prediction when SNP information is added to the Gail model.   This work also shows that the improvement is larger for women at intermediate risk who are more likely to be reclassified.   Senior author David Hinds was at Perlegen Sciences when this paper was written and is currently an employee of 23andMe, Inc.

Confusion Over Utility of Common Genetic Variations in Breast Cancer Risk Prediction

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Spring is about to, well, spring.   And for many of us, that means breaking out the Benadryl ® and the tissues as pollen fills the air and our allergies kick in.
Allergies are part of the daily lives for <a href="http://www.aafa.org/display.cfm?id=9&amp;sub=30" target="_blank" rel="noopener noreferrer">one out of four Americans</a>, making allergies more common than heart disease, cancer and diabetes combined.   For many people, allergies involve only symptoms that are a nuisance, like sneezing or itchy eyes.  But for some, contact with certain substances can lead to life-threatening anaphylactic shock.   To study this mysterious and growing problem, we&#8217;ve released our first allergy survey.
Allergies occur when your body reacts to a normally harmless substance, called an allergen, like it&#8217;s a dangerous invader.   Your immune system produces IgE antibodies that recognize the allergen and trigger the release of histamines.   While histamines normally help protect your body against infections, they can cause allergy symptoms when released inappropriately.   This is why many allergy medications are called &#8220;anti-histamines&#8221;.
The biological process of how symptoms occur after the release of histamines is relatively well-understood, but the question of why the immune systems of people with allergies react to otherwise inoffensive substances like pollen or peanuts remains.   There is a growing body of evidence that supports the &#8220;hygiene hypothesis.&#8221;   This <a href="https://www.ncbi.nlm.nih.gov/pubmed/18650915" target="_blank" rel="noopener noreferrer">theory</a> says that our immune systems need early exposure to parasites like roundworms and tapeworms to mature properly.   Without such exposure the risk of developing allergies is increased.   This fits with the observation that allergies are more common and generally on the rise in industrialized countries where parasite infections are far less common than in the developing world.
It is also clear, however, that genetics play a large role in whether you develop allergies.   Having a family history of allergy puts you at much higher risk for also having an allergy, although it may not be the same type. For example, a family history of asthma, which is a type of allergic disease in most cases, puts you at <a href="https://www.cdc.gov/healthyyouth/foodallergies/" target="_blank" rel="noopener noreferrer">higher risk for a food allergy</a>. While a few <a href="https://www.ncbi.nlm.nih.gov/pubmed/18301422" target="_blank" rel="noopener noreferrer">genes</a> have been shown to be associated with allergy, the genetic picture is far from complete.   If by learning more about the genetics of allergy we could help predict which children may be more likely to develop a dangerous food allergy for example, precautionary measures could be taken.   In addition, we may discover better ways to treat different allergies.
At best, allergies are annoying.   At worst, they&#8217;re deadly.   You can help us take the first steps to understanding the genetics of allergy by completing our new allergy survey.   In the meantime, I&#8217;ll be investing in Kleenex!

23andMe Allergy Survey: Nothing to Sneeze At

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2057" title="DNA Strand" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall.jpg" alt="" width="351" height="263" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall-300x225.jpg 300w" sizes="auto, (max-width: 351px) 100vw, 351px" />
Today the National Institutes of Health (NIH) announced its plans to create a public database in which genetic test providers will voluntarily deposit information about their services that can then be searched by researchers, consumers, health care providers, and others. The aim of this Genetic Testing Registry, which is expected to be launched in early 2011, is to enhance access to information about the availability, validity, and usefulness of genetic tests.
&#8220;The need for this database reflects how far we have come in the last 10 years,&#8221; said NIH Director Francis S. Collins, M.D., Ph.D., in a <a href="http://www.nih.gov/news/health/mar2010/od-18.htm" target="_blank" rel="noopener">press release</a>. &#8220;The registry will help consumers and health care providers determine the best options for genetic testing, which is becoming more and more common and accessible.&#8221;
&#8220;We welcome the news of the Genetic Testing Registry,&#8221; said 23andMe co-founder Anne Wojcicki in response to the announcement. &nbsp; &#8220;23andMe has always been committed to providing individuals with the information they need to make the most of their own genetic information. &nbsp; We look forward to working with the NIH on this project.&#8221;
More information about the Genetic Testing Registry is available from the National Center for Biotechnology Information<a href="https://www.ncbi.nlm.nih.gov/gtr/" target="_blank" rel="noopener"> here</a>. &nbsp; Comments and questions can be submitted from this page. &nbsp; There is also a list of background reading materials.
Francis Collins has done several interviews in the past few weeks where he has discussed the role of genetics in health care, now and in the future. A quick video interview with the Washington Post can be seen here. &nbsp; An hour long interview he did on the Diane Rehm show is available <a href="http://thedianerehmshow.org/shows/2010-03-04/national-institutes-health-director-dr-francis-collins" target="_blank" rel="noopener">here</a>.

NIH to Create Public Database of Genetic Tests

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2335" title="bloodcells" src="https://blog-api.23andme.com/wp-content/uploads/2008/12/bloodcells.jpg" alt="" width="351" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/12/bloodcells.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2008/12/bloodcells-300x223.jpg 300w" sizes="auto, (max-width: 351px) 100vw, 351px" />
Today at the American College of Cardiology conference in Atlanta, researchers from the Mayo Clinic and Medco Health Solutions, Inc., presented results showing that using genetic testing to guide dosing of the commonly used blood thinner warfarin reduces hospitalizations.
Overall there were 31% fewer hospitalizations within six months of beginning warfarin therapy in those who received genetic testing compared to those who didn&#8217;t. A 28% drop in hospitalizations due specifically to bleeding or blood clots was seen.
&#8220;Warfarin represents an excellent example of how to take the modern science of genetic testing and apply it to making an older drug more effective and safer to use,&#8221; said Dr. Robert S. Epstein, lead author of the study and Medco&#8217;s chief medical officer and president of the Medco Research Institute, in a press release.  &#8220;These results show that we can greatly reduce hospitalizations, and their significant costs, by making genetic testing routine early in a patient&#8217;s therapy with warfarin.&#8221;
Although a variety of factors influence a patient&#8217;s ideal dose of warfarin, variations in the CYP2C9 and VKORC1 genes play an important part.   The FDA has mandated that information about these variants be included in the labeling information of the medication since 2007.   In February of this year they <a href="https://blog.23andme.com/2010/02/04/fda-updates-label-on-commonly-used-blood-thinner-to-include-dosing-recommendations-based-on-genetics/" target="_blank" rel="noopener noreferrer">updated the drug&#8217;s label</a> to include specific dosage recommendations.
Genetic testing before administration of warfarin, however, is not mandatory.   There has been significant disagreement over whether or not health outcomes are actually impacted when genetic information is available to physicians.   In fact, the Centers for Medicare and Medicaid Services, the federal agency that makes decisions about what Medicare, Medicaid and the Children’s Health Insurance Program will cover, decided last year that there was not sufficient evidence to justify covering genetic testing before warfarin administration for Medicare beneficiaries.  It will be interesting to see if the new study, which will soon be published in the Journal of the American College of Cardiology, will change this stance.
<a href="http://www.theheart.org/article/1058617.do" target="_blank" rel="noopener noreferrer">theheart.org</a> has more on this story, including comments from researchers critical of the research.   The PowerPoint slides used in the researchers&#8217; presentation are also available for download. (Free registration required)

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