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<td><img loading="lazy" decoding="async" class="alignleft size-thumbnail wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg" alt="" width="150" height="150" srcset="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-300x300.jpg 300w, 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" /></td>
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by Uta Francke, M.D.
The European Society of Human Genetics (ESHG) has issued a policy statement on direct-to-consumer (DTC) genetic testing for health-related purposes. Published in the Society&#8217;s journal, the European Journal of Human Genetics, <a href="https://www.ncbi.nlm.nih.gov/pubmed/20736974" target="_blank" rel="noopener">the statement</a> addresses a multitude of issues and proposes regulations. Given that 23andMe Services are available to citizens of most European countries, I was interested to check out how current 23andMe policies and practices measure up to the recommendations of the ESHG statement.  I am a human geneticist, born in Germany, but not a member of the ESHG. I am a professor of Genetics and Pediatrics at Stanford University, and have served as a consultant to 23andMe for three years. In this statement, the ESHG agrees that individuals have a right to access their own genetic information, and for many, but not all, recommendations 23andMe appears to be in full compliance.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">DTC advertising of genetic testing should be “accurate and transparent, not misleading, not overstating, and include information about limitations, risks and benefits of the tests”.</div>
All 23andMe advertising that I have seen conforms to these guidelines. In the document “<a href="https://www.23andme.com/about/tos/" target="_blank" rel="noopener">Terms of Service</a>” (TOS) that 23andMe customers sign, the risks and considerations regarding the services are clearly spelled out. Before signing up for the services customers are urged to consider that genetic information is irrevocable, that customers may obtain information that is unexpected and may evoke strong emotional responses or may have social, legal or economic implications.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">A medical professional should be involved before the test is taken to ensure there is sufficient information about the purpose and appropriateness of testing, its possibilities and limitations as well as the clinical significance, and to ensure that the individual understands these limitations.</div>
23andMe has written statements extensively addressing these issues but does not provide individual pre-test counseling. If they wish, customers could consult with independent genetic counselors before getting their data, or before signing up.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">For post-test counseling, an appropriately trained person needs to help the individual understand the medical facts of the disorder and relevance of the test results.</div>
Interestingly, ESHG recommends that this healthcare professional be independent of the testing company: ”A conflict of interest may arise when the healthcare professionals involved in the counseling are employed by or linked to the companies selling the tests. In this case impartial health advice might be compromised.” This recommendation is in agreement with 23andMe’s practice of advising customers not to change their health behaviors based on the genetic information alone but to discuss it with a physician or other health provider. Also in agreement with the ESHG policy statement, 23andMe does not employ genetic counselors. Instead, genetic counseling is offered for those clients who desire it by referring them to an independent group of genetic counselors (<a href="http://www.informeddna.com" target="_blank" rel="noopener">Informed Medical Decisions</a>) trained specifically in 23andMe&#8217;s services.
In the United States, various professional organizations and government agencies are debating regulation of the genetic testing industry. As Statements, Perspectives and Opinion pieces are published in medical and scientific journals, readers should consider the biases and affiliations of the authors that might reveal potential conflicts of interest. For example, organizations like ESHG, the American Society of Human Genetics (ASHG), and the American College of Medical Genetics (ACMG) were created to represent the interests of their professional membership, similar to the American Medical Associations (AMA) for physicians. Any claims to act in the public interest by protecting people from potentially damaging genetic information may reflect a fear of the new consumer-driven healthcare system that, as in the case of DTC genetic testing, may circumvent the professional establishment. Insisting on individual professional counseling in the pre-testing and post-testing phase can be interpreted as an attempt to ensure continued involvement of board-certified genetics professionals.   In this context, I reveal that I am an American Board of Medical Genetics certified clinical and molecular geneticist and a member of the ASHG and the ACMG.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">ESHG states that individual medical supervision falls into the realm of primary care providers and calls for genetics training of these providers and improved genetic education of the public.</div>
As readers of this blog are well aware, the 23andMe website offers many tools for genetic education to the public free of charge. In addition, I hope that 23andMe will extend efforts to educate the primary health care community.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">ESHG stresses the importance of ensuring the high quality of genetic testing services. This includes requiring that well-trained and appropriately certified personnel do tests in accredited laboratories, and that clinical validity and clinical utility have been established for tests offered.</div>
23andMe meets the first requirement by using a CLIA certified laboratory (National Genetics Institute) to perform the tests. Thus, there is little doubt about the analytical validity of the genotyping, i.e., results reported are greater than 99% accurate. 23andMe critically evaluates the literature and only reports results of tests with clinical validity, meaning that the reported associations between SNP and disease exceed statistical significance cut-off and have been replicated by independent studies.
While proof of clinical utility is a worthwhile goal for genetic tests, the rapid rate of new discoveries in genetic marker-disease associations outpaces the ability of the medical research community to provide evidence for beneficial clinical outcomes of these tests in a timely fashion. While insisting that clinical utility be an essential criterion for deciding to offer a test directly to the public, the ESHG has taken the position that “tests for which the clinical utility is unproven but seems likely should be performed in the context of the healthcare system and be subject to adequate post-marketing surveillance.”   In my opinion, allowing research to go forward is a wise decision; insisting on experimental evidence of clinical utility for each test would grind progress to a halt.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">The ESHG expresses concern about the adequacy of consent processes for companies that perform research on the biological samples and information obtained from their customers.</div>
Alleviating such concerns, 23andMe has created a separate community of customers willing to participate in research, <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">23andWe</a>. This research project is IRB-approved and uses a separate <a href="https://www.23andme.com/about/consent/" target="_blank" rel="noopener">consent form</a> stating clearly the conditions for participating, and options to participants, on issues such as risks, benefits, privacy, commercialization and property rights. In addition, 23andMe is transparent about its use of customer data outside of peer-reviewed research, such as for product improvement. It seems to me that in its research activities, 23andMe is in full compliance with the ESHG recommendations.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">The ESHG, as are other professional organizations, is strongly opposed to genetic testing of minors unless the test result will be relevant to clinical diagnosis or management of the child.</div>
In contrast, 23andMe leaves the decision to the parents who can submit samples from children less than 18 years old and who control access to their children’s genotyping data. Parents may decide to share some or all of the information with their children. Once they reach the age of 18 years, young customers have the choice to withdraw from participating and have their account closed. I can imagine that teenagers learning about genetics in high school and at university will benefit from the opportunity to examine their own data on genetic traits; it will make learning more fun and relevant.
<div style="background-color: #f0f0f0; padding: 10px; margin-bottom: 10px; margin-top: 10px;">The ESHG statement refers to other European Union documents that advocate for government action to protect citizens from harm.</div>
When contemplating whether genetic information may be dangerous to individuals, one needs to consider access to all medical information. After many years of fighting for this right, patients now have access to their medical records within the established healthcare system. In a system with complete electronic medical records like the one I belong to (Palo Alto Medical Foundation), my doctor orders laboratory tests and I receive e-mail notification as soon as test results are available. I can then access the new test results directly. The website displays the statement “If you have questions or concerns regarding your test results, contact the provider who ordered the test.” Thus, in contrast to the professional organizations that insist on direct involvement of medical genetics specialists in the post-testing phase, in my healthcare system it is not mandatory that a physician be inserted between the test results and the patient. I am able to directly access any and all test results, including my APOE genotype, and I like it this way.
As governmental agencies and professional society committees in this country are drafting regulations and guidelines, I hope they will view the activities of DTC genetic testing companies in the larger framework of consumer-driven changes in the health care delivery systems.
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<img loading="lazy" decoding="async" class="alignleft size-thumbnail wp-image-7282" style="margin-right: 10px;" title="francke" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/francke-130x150.jpg" alt="" width="91" height="105" />
Uta Francke is a professor of genetics and pediatrics at Stanford University. Her research has ranged from human and mouse chromosome identification and gene mapping to the discovery of genes involved in heritable disorders, studies of their functions and of disease-causing mechanisms.  She is also a consulting member of 23andMe&#8217;s <a href="https://www.23andme.com/about/editorial/" target="_blank" rel="noopener">Editorial Advisory Board</a>.
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Uta Francke

Guidelines From Professional Human Genetics Societies and 23andMe Policies

Genetic testing for ancestry is not a concept that most people encounter outside of popular TV shows and so when you hear about services such as 23andMe’s, you might be wondering what exactly it is you’re getting. Even after you’ve signed up and have your data back, you might not know where to start exploring or how to make sense of the wealth of information you’ve just received. Since many people are unfamiliar with genetics and 23andMe offers several unique features, we’ll be presenting a series of posts to help both current customers and the curious reader to understand what you can (and can’t) learn from genetics and from 23andMe in particular.
This first post is part of the “Ancestry at 23andMe” series and is an introduction to the types of information we can tell you about your ancestry. (There will also be a “Health at 23andMe” series to cover the features found in the Health portion of our service.) It may be a review for some, but should help orient those new to genetics or 23andMe (for an even more basic primer, check out our videos in  <a href="https://www.23andme.com/gen101/" target="_blank" rel="noopener noreferrer">Genetics 101</a>). Read on, and let us know if you have a question you would like to see featured in future articles on the 23andMe blog!  
<h6>Ancestry at 23andMe: What Can You Learn?</h6>
<img loading="lazy" decoding="async" class="size-medium wp-image-7225" title="family-tree-labeled" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/family-tree-labeled-300x225.png" alt="" width="300" height="225" /> 
People who have contributed to your DNA.
Using DNA to <a href="https://www.23andme.com/topics/ancestry/family-tree/">uncover clues about your ancestry</a> is a tantalizing prospect for many people. Adoptees and people with diverse ethnic backgrounds may be especially interested in finding out more about where they came from. But even those who have relatively thorough knowledge about their family’s roots may be curious about the more obscure branches of their family tree or the deeper ancestry that connects them to all humans on this planet. Fortunately, DNA acts as a biological record that can reveal many of the pieces of story that is us.
With 23andMe’s genetic testing services, individuals can see what their DNA says about where in the world their ancestors came from, what populations they might be a part of, and who else in the world shares that DNA with them.
<h6>Types of DNA</h6>
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<td style="text-align: right;">Who contributed this DNA if you are&#8230;</td>
<td style="text-align: center;">Female</td>
<td style="text-align: center;">Male</td>
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<td style="text-align: left; font-size: 13px;">Autosomal DNA is found in the 22 pairs of non-sex chromosomes passed down to us equally from our mothers and fathers, one of each pair from each parent. This is about 96% of the DNA that makes you you.</td>
<td><img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-7188" style="margin: 8px;" title="female_auto" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/female_auto1-300x225.png" alt="" width="200" height="150" /></td>
<td><img loading="lazy" decoding="async" class="size-medium wp-image-7194 aligncenter" style="margin: 8px;" title="male_auto" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/male_auto1-300x225.png" alt="" width="200" height="150" /></td>
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<td style="text-align: left; font-size: 13px;">The X chromosome is one of the larger chromosomes and contains a large number of essential genes. Women have two copies, one each from mother and father; men have just one copy, inherited from their mother (except in rare genetic conditions).</td>
<td><img decoding="async" class="size-medium wp-image-7192 aligncenter" style="margin: 8px;" title="female_x" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/female_x1-300x225.png" alt="" height="150" /></td>
<td><img decoding="async" class="aligncenter size-medium wp-image-7198" style="margin: 8px;" title="male_x" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/male_x1-300x225.png" alt="" height="150" /></td>
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<td style="font-size: 13px;">The Y chromosome is what makes someone male. Men have one of these, passed down from their father.</td>
<td style="text-align: center;">N/A</td>
<td><img decoding="async" class="size-medium wp-image-7200 aligncenter" style="margin: 8px;" title="male_y" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/male_y1-300x225.png" alt="" height="150" /></td>
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<td style="font-size: 13px;">All of us also have mitochondrial DNA (mtDNA), found in the chemical factories &#8212; the mitochondria &#8212; inside each of our cells that convert the food we eat into energy for our bodies. mtDNA is always passed down from mother to child.</td>
<td><img decoding="async" class="size-medium wp-image-7190 aligncenter" style="margin: 8px;" title="female_mt" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/female_mt1-300x225.png" alt="" height="150" /></td>
<td><img decoding="async" class="size-medium wp-image-7196 aligncenter" style="margin: 8px;" title="male_mt" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/male_mt1-300x225.png" alt="" height="150" /></td>
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Each type of DNA has unique properties that are informative for ancestry. Because your mitochondrial DNA comes all in one piece from your mother &#8212; and she received it from her mother, and so on &#8212; we can say pretty definitively where that piece of your DNA came from. In fact, scientists can map all mtDNA onto a family tree of sorts, tracing back to a “mitochondrial Eve”, the common female ancestor that gave rise to all variations of mtDNA around today.
This mapping is possible because DNA isn’t always copied perfectly when it’s passed from parent to child. With each successive generation, the changes spread and become the background from which new changes arise, serving both to distinguish different maternal lineages from each other and to connect lineages to each other at some point in genealogical time. So one thing that 23andMe can tell you is where that piece of DNA &#8212; from your mother’s mother’s mother’s ancestors &#8212; is from. (23andMe customers can see this information in the <a href="https://www.23andme.com/you/haplogroup/maternal/">Maternal Line</a> feature of their account.)
Similarly, because the Y chromosome is passed down exclusively from father to son, we can use it to trace the ancestry of a small part of your DNA if you are male. The same principle of DNA variation spreading and building up through generations allows scientists to construct a tree for all the paternal lineages and allows 23andMe to map a man’s Y chromosome DNA to a particular branch in that tree. (Male 23andMe customers can see this information in the <a href="https://www.23andme.com/you/haplogroup/paternal/">Paternal Line</a> feature of their account.)
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<img loading="lazy" decoding="async" class="alignleft wp-image-7265 size-full" style="margin-top: 15px; margin-right: 10px;" title="dna-pie-labeled" src="http://35.88.189.111/wp-content/uploads/2010/09/dna-pie-labeled.png" alt="" width="151" height="102" />
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-7216" style="margin-right: 10px; margin-top: 10px;" title="ancestry_tree" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/ancestry_tree.png" alt="" width="140" height="105" />
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-7217" style="margin-right: 10px; margin-top: 10px; margin-bottom: 15px;" title="global-origins" src="https://blog-api.23andme.com/wp-content/uploads/2010/09/global-origins.png" alt="" width="140" height="100" />
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<td>Your maternal &#8212; and for some, paternal &#8212; line gives you an interesting piece of your DNA history, but it is a very small part. Your autosomal and X chromosome DNA make up almost 99% of all your DNA, and is passed down from both parents (except for the X chromosome in males, which comes only from the mother). This means that the DNA can be used to infer more distant relatedness between individuals on any branch of their family tree &#8212; 4th cousins, for example, who share common great-great-great-grandparents &#8212; based on the percentage of DNA shared. Thousands of people are already making connections with distant relatives through 23andMe’s database. (23andMe customers can explore our <a href="https://www.23andme.com/you/relfinder/">DNA Relatives</a> (Relative Finder) and  <del>Ancestry Finder</del>  Countries of Ancestry features which use these principles.)
More generally, we can compare your autosomal DNA to that of different populations around the world and show you which groups of people you are most similar to genetically. This can be done at a very high level with broad ethnic groups or global populations, or at a finer-grained level with more specific populations, such as Han Chinese or Norwegian. (23andMe customers can see these using the <del>Ancestry Painting</del>  Ancestry  Composition  <del>Global Similarity</del> and <del>Global Similarity: Advanced</del> <a href="https://www.23andme.com/you/labs/global_similarity_map/">Global Similarity  Map</a>  features.)</td>
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Unlike maternal and paternal line analysis, autosomal and X chromosome DNA analysis cannot tell us much definitively past a certain number of generations. Because each pair of chromosomes recombines, or mixes, before being passed down from parent to child, the size of possible shared segments gets successively smaller with each generation. Too small, and it’s no longer possible to tell whether the segment truly came from a shared common ancestor, or if it’s identical simply by chance. The information we can infer, however, is much more versatile. And although scientific methods using autosomal and X chromosome DNA are not as firmly established or plentiful as those used for mtDNA and Y chromosome analyses, this should change as more research accumulates.
The cool part is that all of these features we&#8217;ve just mentioned are just the tip of the iceberg. One thing that separates 23andMe’s services from most other genetic ancestry services is that we use data about hundreds of thousands of variants in the human genome &#8212; places where a single DNA letter can vary between individuals, called single nucleotide polymorphisms, or SNPs (“snips”). This offers greater resolution and versatility than more traditional methods, allowing us to provide a unique and constantly evolving set of tools for exploring your ancestry.
In the <a href="https://blog.23andme.com/2010/09/29/ancestry-at-23andme-introducing-sheridan/">next post in this series</a>, we illustrate 23andMe’s ancestry features in more detail by following some (fictional, but based on real) customers as they explore their 23andMe data.
<h6 style="background-color: #ffc; padding: 10px;">Summary of 23andMe features mentioned in this post:</h6>
<div style="background-color: #ffc; padding: 10px;"><a href="https://www.23andme.com/you/haplogroup/maternal/">Maternal Line</a> &#8211; Uses mitochondrial DNA passed down from your mother to trace the origins of your mother&#8217;s mother&#8217;s mother&#8217;s ancestors.</div>
<div style="background-color: #ffc; padding: 10px;"><a href="https://www.23andme.com/you/haplogroup/paternal/">Paternal Line</a> &#8211; (Possible for men only) Uses Y chromosome DNA passed down to sons from their fathers to trace the origins of their father&#8217;s father&#8217;s father&#8217;s ancestors.</div>
<div style="background-color: #ffc; padding: 10px;"><a href="https://www.23andme.com/you/relfinder/">DNA Relatives</a> (Relative Finder) and  Countries of Ancestry &#8211; Uses autosomal DNA passed down from both parents to connect you to other 23andMe users who may be related to you.</div>
<div style="background-color: #ffc; padding: 10px;">Ancestry Composition  and <a href="https://www.23andme.com/you/labs/global_similarity_map/">Global Similarity Map</a>  &#8211; Uses autosomal DNA passed down from both parents to place your DNA in the broader context of populations, continents, and regions of the world.</div>
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Other posts in this series:
<a href="https://blog.23andme.com/2010/09/29/ancestry-at-23andme-introducing-sheridan/">Introducing Sheridan</a> &#8211; We meet Sheridan and she learns about her maternal haplogroups.
<a href="https://blog.23andme.com/2010/10/08/ancestry-at-23andme-sheridans-global-origins/">Sheridan&#8217;s Global Origins</a> &#8211; Sheridan compares herself and her friends to various populations around the world.
<a href="https://blog.23andme.com/2010/10/15/ancestry-at-23andme-sheridans-got-relatives/">Sheridan&#8217;s Got Relatives</a> &#8211; Sheridan responds to a fifth cousin and discovers a predicted second cousin in the 23andMe database.
<a href="https://blog.23andme.com/2010/10/22/ancestry-at-23andme-finding-connections/">Finding Connections</a> &#8211; Sheridan and Brian bond over their fourth cousin connection.
<a href="https://blog.23andme.com/2010/10/29/ancestry-at-23andme-old-roots-and-new-horizons/">Old Roots and New Horizons</a> &#8211; Sheridan and Brian put together the pieces to sketch out their shared family tree.
</div>

23andMe Blog

23andMe Blog Team

Ancestry at 23andMe: What Can You Learn?

<img loading="lazy" decoding="async" class="alignright size-full wp-image-7140" title="iStock_000006212593XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall.jpg" alt="" width="308" height="307" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall.jpg 347w, https://blogcms.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/08/iStock_000006212593XSmall-271x271.jpg 271w" sizes="auto, (max-width: 308px) 100vw, 308px" />
Endometriosis, one of the most common gynecological conditions, occurs when tissue from the lining of the uterus implants elsewhere in the body–most commonly the fallopian tubes, the ovaries or the pelvis.
<h2>What is Endometriosis?</h2>
This tissue responds to hormonal cycles by thickening, breaking down and bleeding each month. The blood can become trapped, irritating surrounding tissue and leading to cysts and scars.
Because relatives of women with endometriosis are about seven times more likely to be affected themselves, there is thought to be a strong genetic component to the condition.
<h2>Common Genetic Variants</h2>
Japanese researchers recently identified a common genetic variant that appears to be associated with increased risk of developing endometriosis. 
This finding, published in the journal <a href="https://dx.doi.org/10.1038/ng.612" target="_blank" rel="noopener noreferrer">Nature Genetics</a>, may shed light on the underlying biology of this condition that affects an estimated 2-10% of women of reproductive age, and could perhaps one day facilitate new methods of prevention or treatment.
Satoko Uno and colleagues analyzed the DNA of a total of 1,423 women with endometriosis and 1,318 controls, all from Japan.   At first the researchers did not find any SNPs that had statistically significant associations with the condition.   However, when they took the 100 strongest associations and followed them up in an additional 484 women with endometriosis and 3,974 controls, they found evidence for association for one SNP located in the CDKN2BAS gene, which regulates genes known to be involved in cell division, including CDKN2A.   Based on previous research, the scientists suggest that regulation of CDKN2A might be critical for controlling cell growth in endometrial tissue.

Genetic Variation Associated with Endometriosis in Asian Women Identified

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3542" title="kidneys" src="https://blog-api.23andme.com/wp-content/uploads/2009/05/kidneys.jpg" alt="" width="278" height="206" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/05/kidneys.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/05/kidneys-300x223.jpg 300w" sizes="auto, (max-width: 278px) 100vw, 278px" />
Chronic kidney disease (CKD), characterized by the gradual loss of the kidneys’ filtering ability, currently affects about 10-13% of adults in the United States.   Patients suffering from the most severe form of the condition, end-stage renal disease, require dialysis or a kidney transplant to survive.
Rare mutations that cause <a href="https://www.23andme.com/topics/carrier/polycystic-kidney-disease" data-wplink-edit="true">kidney disease</a> have been identified, but finding common variations that impact susceptibility to CKD has been difficult.   Research published in 2009 showed that a variation in the gene that encodes the most common protein in urine could increase risk for CKD.   Now new research, published recently in the journal <a href="https://dx.doi.org/10.1371/journal.pgen.1001039" target="_blank" rel="noopener noreferrer">PLoS Genetics</a>, replicates this finding and shows that the variant may act by influencing how the kidneys adapt to age-related risk factors for kidney disease.
The new results, obtained by analyzing DNA from several thousand Icelandic and Dutch individuals, upheld the previous finding that each copy of the more common A version of in the UMOD gene, which encodes the Tamm-Horsfall protein, is associated with about 25% higher odds of CKD.
To further assess the effects of , the researchers turned their attention to measurements of <a href="http://www.nlm.nih.gov/medlineplus/ency/article/003475.htm" target="_blank" rel="noopener noreferrer">serum creatinine concentration (SCr)</a>, an indicator of kidney function.   Higher SCr is associated with decreased filtering ability in the kidney.   They found that in the Icelandic sample,  the variant affects SCr levels in an age-dependent manner.   Before age 50, this variant doesn&#8217;t have much of an affect.   But thereafter each copy of a A is associated with higher SCr every year, especially around age 70.   The effect of was intensified in people with hypertension compared to those without a diagnosis of high blood pressure, as well as in those with type 2 diabetes compared to those without.
Based on their results, the researchers speculate that affects the vulnerability of the kidney to damage as a person ages.
&#8220;The common diseases happen at the interface between genes and the environment, and this study offers a clear and medically useful example of this dynamic in action.   This SNP is now a validated risk factor for kidney disease, but we have also shown it can be even more meaningful if looked at in the context of age and broader health history,&#8221; said the study&#8217;s senior author, Kari Stefansson, in a <a href="http://www.prnewswire.com/news-releases/decode-shows-how-genetic-risk-of-kidney-disease-frames-response-to-environmental-risk-over-time-99579559.html" target="_blank" rel="noopener noreferrer">press release</a>.

New Research Sheds More Light on Role of Genetic Variant in Chronic Kidney Disease

<img loading="lazy" decoding="async" class="alignright wp-image-5157 size-medium" title="migraine" src="http://35.88.189.111/wp-content/uploads/2009/10/migraine-300x214.jpg" alt="" width="300" height="214" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-300x214.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine.jpg 435w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Headaches are a pain &#8212; literally. But while most people see them as a temporary nuisance, many others find them extremely debilitating. For the 8% of men and 17% of women who suffer from migraine headaches, these long, recurring episodes can include more than just throbbing pain: vomiting, chills, sensitivity to light or sound, or trouble concentrating are just a few of the possible symptoms. Some people experience a set of symptoms prior to their migraine attacks known as “aura” but for others the attacks come without warning.
Because the condition is complex and manifests differently in each person, the biological causes of migraine have been difficult to determine. New research, however, is implicating common genetic variants which may help to elucidate the biological underpinnings of the disease.
In a study published this week in <a href="https://dx.doi.org/10.1038/ng.652" target="_blank" rel="noopener">Nature Genetics</a>, a team of scientists from the International Headache Genetics Consortium (IHGC)  identified a genetic variant associated with migraine susceptibility. The researchers compared almost 6,000 migraine sufferers to more than 50,000 people who did not suffer from migraines, all of European ancestry, and found that the less common variant was associated with about 1.2 times higher odds of migraine headache.
Although the SNP is not located within any known genes, it is found in a region of the genome that contains genes involved in the regulation of a neurotransmitter called glutamate. When the IHGC team looked at the nearby genes, they observed that was significantly correlated with the expression levels of MTDH. MTDH regulates another gene that encodes a protein that transports glutamate in the brain. Previous research has suggested that an imbalance in glutamate levels may contribute to the development of migraines, in addition to other neurological disorders, but the exact mechanisms are still unknown. More studies are needed to confirm and elaborate on the IHGC’s findings.

Researchers Link Migraine Susceptibility to Genes Involved in Glutamate Regulation

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-7164" title="dnablocks(iStock)" src="https://blog-api.23andme.com/wp-content/uploads/2010/08/dnablocksiStock-300x197.jpg" alt="" width="300" height="197" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/08/dnablocksiStock-300x197.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/08/dnablocksiStock.jpg 427w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Having been a genetics educator for over two decades, I was excited to learn in May that Berkeley’s incoming freshman class would have an opportunity to discover whether they have an AA, AG, or GG at a specific site near the LCT gene, along with similar information for the ALDH2 and MTHFR genes. &nbsp; Time and again I have seen students, friends and relatives pale at the mention of genetics concepts, until they get their own data and are instead forthcoming with questions and eager to learn. So the idea of university students learning about genetics through a small set of personal genetic data seemed an excellent one. The data would provide an opportunity for discussion of a broad range of topics, from genetics to concepts of race to the ethical issues surrounding medical genetics. And the organizers had thought long and hard about the project, developing, for instance, an <a href="http://webcast.berkeley.edu/media/common/media/one_off/pa_20100708_ls_h264fs.mov" target="_blank" rel="noopener noreferrer">online video consent form</a>.
Last week I was deeply disappointed to learn that the course organizers, in response to a decision by the California Department of Public Health, will not be providing students with their personal genetic data. Instead, they will provide aggregate data — summaries of how many students have each of these “genotypes” (for instance, AA, AG, or GG). &nbsp; I understand the importance of making sure that students’ privacy is protected, and that students are adequately informed before obtaining their data. And I think the topic of whether the CDPH decision makes sense is a question worthy of further discussion. &nbsp; But today I will focus on a different, related topic, because, after a brief period of disappointment over this decision, I began to think more constructively. From an educator’s perspective, there are still valuable genetics lessons to be learned via this initiative, even if students don’t gain access to their personal genetic data.
In fact, were I coordinating the project, even if there were an opportunity to provide students with personal data, I would refrain from giving students immediate access. &nbsp; Indeed, I would wait to provide access to aggregate data as well. &nbsp; I would start by inviting students to make an educated guess regarding their genotype for each of the genetic markers in the LCT, ALDH2, and MTHFR genes. &nbsp; Presumably the CDPH doesn’t have jurisdiction over students guessing their genotype, even though a guessing exercise would lead to far less accurate personal data than genotyping would. &nbsp; So how would students guess their genotype? &nbsp; Let’s take each of the markers one-by-one.
Lactose tolerance (LCT gene): A genotype of GG at one particular position near the LCT gene can lead a person to have trouble digesting the lactose in cow’s milk. &nbsp; Given that Berkeley students can drink milk legally, making a guess regarding their genotype (AA, AG, GG) for this marker is more straightforward than for the other two genes. They can base their guess regarding their “lactose tolerance” genotype on their own experience drinking milk, and the experiences of their family members. &nbsp; If, for example, they don’t digest milk well, and neither of their parents drinks milk comfortably, they might guess that their own genotype is GG. &nbsp; If only one parent has enjoyed drinking milk as an adult, their initial guess might be AG. And if everyone in their family drinks gallons of milk, their best guess would be AA. &nbsp; Next, I would provide them with frequencies of each of the LCT variants (A and G) in a number of populations. &nbsp; Such data are <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234910/table/TB2/">readily available</a>. &nbsp; Students would be invited to put these two sets of data (personal experience, family history and population frequencies) together and guess their genotype, recording it for themselves and submitting it (anonymously) to a course instructor.
Alcohol metabolism (ALDH2 gene): A genotype of AA at one particular position in the ALDH2 gene can lead a person to have trouble tolerating alcohol so that they experience what is called <a href="https://www.23andme.com/topics/wellness/alcohol-flush-reaction">“alcohol flush”</a> and other discomforts. The steps for guessing one’s genotype are similar to those for LCT, except that most Berkeley freshman cannot drink alcohol legally in California. Therefore their guess regarding this marker will need to be based on information from parents or other older relatives. &nbsp; Students could find out if their relatives ever “flushed” after drinking alcohol. &nbsp; If two parents said yes, then the student might guess that they have the AA genotype for this locus. If the flushing is moderate, the student might guess that they are most likely to have the AG genotype. Next, I would provide them with frequencies of each of the ALDH2 variants (A and G) in a number of populations. As for LCT, students would be invited to put these two sets of data (family history and population frequencies) together and guess their genotype, recording it for themselves and submitting it (anonymously) to a course instructor.
Folic acid requirement (MTHFR gene): A genotype at one particular position in the <a href="http://circ.ahajournals.org/cgi/content/full/111/19/e289" target="_blank" rel="noopener noreferrer">MTHFR gene</a> can influence a person’s requirement for folic acid (found in, for instance, leafy green vegetables). Here most students would have little personal experience or family history to help them out. &nbsp; So they would need to rely on the population frequencies. &nbsp; They might even use a random number generator to help them make an educated guess. &nbsp; If one parent were affiliated with one population and the other parent with a second population, the student would use the relevant population frequencies of the two populations. &nbsp; As before, they would record their genotype guess for themselves and submit it to their instructor.
During this “guessing” process students could discuss how comfortable they are sharing the information with one another. &nbsp; Would they be comfortable making the information public? Do they see any differences between sharing their guesses and sharing their actual genotype data (were they to have access to it)? &nbsp; They might also discuss the implications of the different frequencies in the different populations. &nbsp; Is any variant at 100% in any population and 0% in another so that ethnicity predicts genotype? &nbsp; Are their stereotypes around the phenotypes of alcohol flush and lactose tolerance? What about the health implications of the information?
Once the students have submitted their guesses for all three markers, instructors would tabulate and report back the aggregate data. &nbsp; If students have also submitted information regarding their sex and ethnicity, data could be summarized within those categories. &nbsp; At this point it would be time to reveal the actual aggregate data to the students. &nbsp; The big questions would be: &nbsp; How close are the students’ guesses (in aggregate) to the actual data? &nbsp; Are they close for all three markers? If not close, what are the possible explanations? &nbsp; Lack of true correlation between genotype and the trait? &nbsp; Incorrect published estimates of variant frequencies? &nbsp; Laboratory error? Incorrect calculations by the students when they made their educated guesses? What else might be going on?
Under the current plan, this comparison of the summary of educated guesses and the summary of actual data would be the final chapter of the genetics component of the course. &nbsp; But maybe next year would be different. &nbsp; Maybe this year’s freshman class at Berkeley would pave the way for future classes to have one more small but highly significant step: &nbsp; comparing their individual educated guesses with their actual personal genotype data. &nbsp;The personal data would provide opportunities for several powerful lessons. &nbsp; For instance, a number of students would discover that they have variants that are often reported as being found only in ethnic groups other than their own, revealing the fallacy of equating race or ethnicity with biology.
Having been through the preparatory lessons and exercises, interested students would be prepared to gain access to their personal genetic information. And thousands of individuals would be better prepared to consider the genetic information that will be broadly available in the near future.

Lessons at Berkeley: Genetics and Beyond

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3624" title="liver" src="https://blog-api.23andme.com/wp-content/uploads/2009/05/liver.jpg" alt="" width="309" height="229" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/05/liver.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/05/liver-300x223.jpg 300w" sizes="auto, (max-width: 309px) 100vw, 309px" />
Hepatocellular Carcinoma (HCC) is the <a href="http://www.cancer.gov/cancertopics/pdq/screening/hepatocellular/HealthProfessional/allpages" target="_blank" rel="noopener noreferrer">fourth most common cancer</a> in the world.  More than half a million new cases of this form of <a href="http://www.mayoclinic.com/health/liver-cancer/DS00399" target="_blank" rel="noopener noreferrer">liver cancer</a> are reported each year.   Excessive alcohol consumption and obesity have long been linked to HCC, but the main cause of the disease is chronic <a href="http://www.mayoclinic.com/health/hepatitis-b/DS00398" target="_blank" rel="noopener noreferrer">hepatitis B virus</a> (HBV) infection.  Not everyone chronically infected with the virus, however, develops HCC.
To investigate whether genetic factors play a part in whether an HBV-infected person will go on to develop HCC, researchers analyzed the DNA of several groups of people with Chinese ancestry, as it is known that in China 80% of cases of HCC are linked to chronic HBV infection.  Their results, published online this week in the journal <a href="https://dx.doi.org/10.1038/ng.638" target="_blank" rel="noopener noreferrer">Nature Genetics</a>, show a strong link to a genetic variation on chromosome 1.
The sample of chronic HBV carriers used to identify the association consisted of 355 people with HCC and 360 without HCC.  An additional 1,962 individuals with HCC, 1,430 control subjects, and 159 families, were also studied to confirm the results.   Researchers found a genetic association for the condition.
The researchers also explored differences in the effect of on HCC rates among HBV carriers of different genders and ages.  They found that was more strongly associated with HCC in virus-infected males than females.   The variants were found near several genes: KIF1B, UBE4B and PGD.  Multiple lines of evidence suggest that one or more of these genes are plausible candidates for HCC susceptibility.  Changes in the region of the genome where they are found are commonly seen in many different cancers, including HCC.  The KIF1B gene has been shown to be important in preventing some types of tumors, and mutations in this gene are associated with several types of cancer.  UBE4B and PGD encode proteins involved in vital cellular processes that often go awry in cancer development.

Researchers Identify Genetic Variant That May Affect Liver Cancer Risk in Those Chronically Infected with Hepatitis B Virus

This week, Mary Carmichael of Newsweek is exploring the world of direct-to-consumer (DTC) genetic testing and deciding whether or not she&#8217;d like to find out about her own DNA information.
<img loading="lazy" decoding="async" class="aligncenter wp-image-6586 size-full" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="350" height="349" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w, 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-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w" sizes="auto, (max-width: 350px) 100vw, 350px" />
23andMe was asked to contribute a short piece on what you can–and can&#8217;t–learn from services such as ours. We were more than happy to help, as it is our firm belief that education is a critical first step toward our goal of meaningful integration of genetic information into clinical care. Below is an expanded version of <a href="http://www.newsweek.com/2010/08/03/dna-dilemma-day-two-what-can-i-learn-from-at-home-dna-tests.html" target="_blank" rel="noopener">what we wrote</a>.
If you&#8217;d like to join the conversation, leave a comment over at Newsweek, or <a href="https://twitter.com/mary_carmichael" target="_blank" rel="noopener">follow Mary on Twitter</a> and let her know what you think.
<h6>Get the Right Drug at the Right Dose</h6>
What we can tell you: Genetics can impact whether you&#8217;ll need more or less of a medication compared to most people, or whether you might be at increased risk for serious side effects.
For example, the blood thinner warfarin (Coumadin ®) can help prevent blood clots, but it can also cause excessive bleeding in people whose sensitivity to this drug is increased by two genetic variations covered by 23andMe. There are also genetic effects on clopidogrel (Plavix ®) efficacy.   Normally this drug helps prevent heart attacks by keeping blood cells from sticking together. But a genetic variation that interferes with the drug&#8217;s metabolism prevents some people from getting the full effect, putting them at increased risk for cardiovascular events.
What we can&#8217;t do: DTC genetic testing can&#8217;t replace your doctor when it comes to making decisions about how best to treat you.   There are many factors other than genetics that need to be taken into consideration.   No one should stop taking a medication or change their dosage without a doctor&#8217;s supervision.
<h6>The Future: Mutations that Could Impact Your Children</h6>
What you&#8217;ll learn: If two people are carriers of certain disease-causing mutations, each child they have together will have a 25% chance of being born with the disease.  Knowing a child has a chance of being born with one of these diseases can facilitate early intervention and improve outcomes.
One in 29 people of European descent carries a mutation that can cause cystic fibrosis.   Approximately one in five Ashkenazi Jews carries a mutation associated with a severe disease that could result in the early death of a child, such as Tay-Sachs, Canavan disease or Niemann-Pick disease type A. Sickle cell anemia occurs in about one out of 625 African Americans and one out of 1,000 Hispanic Americans.
23andMe tests for mutations associated with these and many other inherited conditions.
But remember: For almost every inherited condition, there are many, many known mutations.   Some of these are more frequent than others, and the chance of having certain mutations often varies by ethnicity.   All screening tests necessarily cover only a subset of the possible mutations for each disease.   Because of this, these tests can tell you that there is a chance that a child will be affected, but if no mutations are detected you don’t know that a child absolutely won’t be affected.   The presence of undetected mutations in each parent could still lead to a child being born with the disease.
<h6>Common Diseases — the Future of Genetics</h6>
What we know: Common DNA variations found within all of us have been linked to increased risk for things like diabetes, cancer and autoimmune conditions.Learning your genetic risk for these conditions allows you and your doctor to focus on what matters most for you.
What&#8217;s left to figure out: The genetic variations identified to date explain only a small part of a person&#8217;s risk for each disease.   Unknown genetic factors, as well as environment, are also important.   Additionally, because most research is conducted in populations with European ancestry, people from ethnic minorities get limited information from DTC genetic testing.
Through its research, 23andMe is working to improve the information that all people can get from their DNA data.   Our 23andWe surveys allow everyone to contribute to work aimed at understanding some of the most basic facets of our biology, and have already resulted in the <a href="https://blog.23andme.com/2010/06/24/plos-genetics-23andme/" target="_blank" rel="noopener">publication of a report in a peer-reviewed scientific journal</a>.   Our Parkinson&#8217;s disease and sarcoma communities are bringing people from around the world together in a participant-driven effort to make real strides in our understanding of these diseases.
We are also partnering with several groups in order to increase the diversity in our database and, in turn, the number of results we will be able to provide to all people, regardless of their ancestry.
<h6>The Fun Stuff</h6>
Some of the information hidden in your DNA is just plain cool!
Physical Traits: Is your earwax wet or dry?   Never thought about it?   Well, you will once you learn about how just one little letter in your DNA can make all the difference.   Your eye color, hair curliness, whether your sneeze upon entering bright light, and the ability to smell asparagus in your urine (ewwwwww!) are also all influenced by genetic factors.
Ancestry: Locked within your genetic code are both the story of your ancestors and the information you need to fill in your family tree.
Ancient Migrations: With state-of-the-art tools 23andMe traces maternal ancestry back tens of thousands of years with a small piece of DNA passed down from mother to child. Males can uncover their paternal ancestry through the Y chromosome that is passed down from father to son.
Global Origins: By comparing your DNA to reference populations from around the world, 23andMe can give you clues as to where each piece of your genome originated and which populations you are most similar to.
Find Relatives You Never Knew You Had: 23andMe&#8217;s Relative Finder lets you find all the other 23andMe members who match your DNA. You can browse and make contact anonymously.   Most people find over 100 &#8220;cousins,&#8221; though this varies based on ancestry.   People who have mainly European roots may find several hundred relatives. If you have Ashkenazi Jewish ancestry, you might find well over a thousand.

What DTC Genetic Testing Can–and Can’t–Tell You

As we posted here on the Blog yesterday, the Subcommittee on Oversight and Investigations of the House of Representatives Committee on Energy and Commerce held a hearing on “Direct-To-Consumer Genetic Testing and the Consequences to the Public Health.”
Central to this hearing was an investigation by the Government Accountability Office (GAO) into 15 DTC genetic testing companies.
The GAO refused to discuss its concerns or its report with 23andMe, and now that the report is public and we have had a chance to review it, we are troubled and find the report is deeply flawed. We note that while such an exercise as conducted by GAO has the potential to raise questions, it does not provide the answers that a more rigorous scientific study would provide.   This report raises questions, but leads to few conclusions because of its unscientific nature.   The GAO itself recognizes this, writing, &#8220;It is important to emphasize that we did not conduct a rigorous scientific study.…&#8221;
[The report is accessible from the <a href="https://energycommerce.house.gov/index.php?option=com_content&#038;view=article&#038;id=2083:hearing-on-direct-to-consumer-genetic-testing-and-the-consequences-to-the-public-health&#038;catid=133:subcommittee-on-oversight-and-investigations&#038;Itemid=73" target="_blank" rel="noopener">Committee&#8217;s website</a> (Click on PDF for &#8220;Testimony of Gregory Kutz.&#8221;   Gregory Kutz is Managing Director, Forensic Audits and Special Investigations, Government Accountability Office).]
 
We are confident in our service&#8217;s accuracy and reliability. It is widely accepted that the technology we are using is sound.   We understand that GAO did not find any problem with the underlying data that we provide — the As, Cs, Ts and Gs.   What is at question is whether or not one part of the information about that data that we provide is of value, and we believe strongly that it is.
The GAO report focused only on disease risk probabilities.   It did not focus on ancestry or the trait reports we offer.   It also failed to address that we also provide information about carrier status for single gene diseases such as cystic fibrosis and Tay-Sachs disease, as well as the fact that we provide information about a customer&#8217;s likely response to certain prescription medications that have been shown in clinical trials to have differing effects and side effects depending on a person&#8217;s genetic make-up.   This suggests that GAO found no problems with these parts of our service.
Carrier status and drug response information are clearly useful. In fact, Dr. James Evans, the Director of Adult Genetics Services at the University of North Carolina and the Editor-in-Chief of Genetics in Medicine, admitted during the Congressional hearing that drug response information would be of great interest to him as a physician.   (He was specifically referring to results pertaining to a patient&#8217;s sensitivity to the anti-viral medication abacavir.)   It should be noted that during the hearing it was not clear that Dr. Evans had been the primary consultant to GAO regarding the scientific and medical relevance of the results provided by DTC genetics testing companies.
The remarks made by<a href="https://blog.23andme.com/2010/07/20/23andme-at-fdacdrh-public-meeting-on-oversight-of-laboratory-developed-tests-ldts/" target="_blank" rel="noopener"> 23andMe Co-Founder Anne Wojcicki and General Counsel Ashley Gould</a> at the FDA public meeting on July 20, 2010 about laboratory developed tests demonstrate the importance of the work we are doing and our commitment to ensuring that members of the public are provided unfettered access to their DNA information in a responsible manner.   We embrace the ideas that the FDA offered today about stepping in to provide a regulatory framework and help set scientific and transparency standards across the industry.   We look forward to helping with this process.
Read on for discussion of some of the problems with the GAO report.
One of the most unfortunate parts of the GAO report is that it unfairly lumps together reputable and well known companies such as 23andMe with un-named companies making verifiably untrue endorsement claims, spurious scientific claims, and also selling potentially fraudulent supplements in addition to genetic testing services. Some of the most troubling of these interactions between the GAO and genetic testing companies can be found in a table on pages 15-16 of the GAO report, and in a Youtube video the Office has posted.
It must be noted however, that although the companies are not identified in the video or the report, at the hearing it was revealed that 23andMe is Company 1.   Other than saying that we believe customers should consult with their physician or other healthcare professional when they have questions about their data, 23andMe/Company 1 is not implicated in any wrongdoing.
GAO seems to believe that directing consumers with questions about their genetic information to their health care professionals (a stance we continue to stand behind) is &#8220;misleading&#8221; because of a pronouncement by the Department of Health and Human Services&#8217; Secretary&#8217;s Advisory Committee on Genetics, Health and Society that physicians &#8220;cannot keep up with the pace of genetic tests and are not adequately prepared to use test information to treat patients appropriately.&#8221;
It is important to note that most instances of wrongdoing highlighted by GAO come from the 11 still unidentified companies they investigated. (Companies 2-4 were identified as DecodeMe, Pathway Genomics and Navigenics, respectively.)
The rest of the GAO report revolved around five main points (beginning on page 4 of the document):
(1) &#8220;each donor’s factual profile received disease risk predictions that varied across all four companies, indicating that identical DNA can yield contradictory results depending solely on the company it was sent to for analysis&#8221; 
It is well known that different DTC genetic testing companies provide different estimates of risk.   A report published in the scientific journal Nature in 2009 (<a href="https://www.nature.com/nature/journal/v461/n7265/full/461724a.html" target="_blank" rel="noopener">Ng, et al.</a>) described this situation, and 23andme, along with Navigenics, responded in an open letter that was <a href="https://blog.23andme.com/2009/11/18/23andme-navigenics-open-letter-to-nature/" target="_blank" rel="noopener">published on our blog, The Blog.</a>
There are valid scientific reasons for different estimates from different companies, such as: companies employ slightly different statistical models for making risk estimates; companies establish different criteria for the inclusion of associations in their reports; new associations are being discovered at a faster rate than companies’ development cycles; companies may test for an imperfectly overlapping set of genetic variants for reasons including the ability of different genotyping technologies to assay certain variants.
We agree with the idea that consumers should be able to compare the risk predictions they might receive from different test providers. This is an issue that deserves serious attention and one that we believe can be solved by the implementation of broad standards throughout the industry.   We have approached both the NIH and FDA for assistance in this matter (see this <a href="https://blog.23andme.com/2010/07/06/23andme-letter-to-heads-of-fda-and-nih/" target="_blank" rel="noopener">letter sent to the heads of both agencies and posted on our blog, The Blog</a>).   Instead of constructively adding to these efforts, GAO has instead implied that because results differ between companies, they are simply wrong.   Their report fails to provide all relevant information, and perpetuates the misunderstandings of genetics in particular and science in general that 23andMe has since the very beginning been dedicated to changing.
It should be noted that the problem of different risk predictions from different sources is not unique to the direct-to-consumer genetic testing industry.   Take for example, these two tools (<a href="http://www.reynoldsriskscore.org/" target="_blank" rel="noopener">here</a> and <a href="http://hp2010.nhlbihin.net/atpiii/calculator.asp" target="_blank" rel="noopener">here</a>) available to the public to calculate risk for cardiovascular disease.   Both are clinically valid, yet they give different answers.   It should be noted that development of both of these two tools was at least partially funded by the federal government.
2) &#8220;these risk predictions often conflicted with the donors’ factual illnesses and family medical histories&#8221;
As an example of this the GAO points to one of their &#8220;donors&#8221; who has a family history of heart disease but is told by some DTC genetic testing companies that he has average risk for heart disease based on genetics alone.
As the average risk of heart disease is about 21% for males, it is unsurprising that an individual would have a family history of heart disease but also be at average risk based on genetics alone.
The GAO admits that risks are probabilistic by definition and that therefore there is no expectation that there would always be complete alignment between predicted risk and reality.   But they then go on to quote an expert that &#8220;noted that the discrepancies between actual health and the predications made by these companies also serve to illustrate the lack of robustness of such predictive tests.&#8221;   This is a criticism that could be said of any risk prediction, including those currently made based on measurements such as cholesterol.   It is well accepted that not everyone with high cholesterol has a heart attack, and not all heart attacks happen in people with high cholesterol. Yet, cholesterol measurements are taken and used in clinical practice every day.
3) &#8220;none of the companies could provide the donors who submitted fictitious African American and Asian profiles with complete test results for their ethnicity but did not explicitly disclose this limitation prior to purchase&#8221;
Unfortunately, because of where and how biomedical research is funded, there are comparatively few studies looking for genetic associations in populations that form a minority in the countries where much of the latest research takes place. In other words, most of the associations have only been confirmed in populations of European ancestry.   An FAQ on our website explains this situation and lays out how it can result in fewer results for people with African American or Asian ethnicity.   In addition, our Terms of Service explain the limitations of genetic research, especially with regard to ethnic minorities, and note that a free demo version of our service is available for people to examine exactly what they will be getting if they choose to purchase.
23andMe actively looks for associations that have been repeated in populations other than the original study population, but we can only report data published by the scientific community at large. Unfortunately, most studies, both publicly and privately funded, do not include sufficient numbers of people from minority populations to meet the strict standards we have put in place to ensure that the information we provide through our Personal Genome Service is of high quality.
One of the strengths of 23andMe is our research platform, which we believe will be instrumental in bringing more diversity to the populations that can be completely served by DTC genetic testing.   We are actively seeking to initiate a large study of African American individuals that will seek to replicate genetic associations already known in European populations (or show that these associations do not hold).   As our database grows, we will be able to conduct studies in even more populations.
It should also be noted that the inability to accurately provide information for racial minorities is not a problem unique to the DTC genetic testing industry.   The <a href="http://www.cancer.gov/bcrisktool/" target="_blank" rel="noopener">Gail breast cancer risk estimator provided by the National Cancer Institute</a> has the following disclaimer:
&#8220;Assessments for Hispanic women are subject to greater uncertainty than those for white and African American women. Researchers are conducting additional studies, including studies with minority populations, to gather more data and to increase the accuracy of the tool for women in these populations.&#8221;
4) &#8220;one company provided donors with reports that showed conflicting predictions for the same DNA and profile, but did not explain how to interpret these different results&#8221;
This criticism specifically targets 23andMe and has to do with the fact that we provide both Established Research Reports and Preliminary Research Reports.   The distinction between the two is that Established reports are supported by multiple, large, peer-reviewed studies, whereas markers included in Preliminary reports have not yet gained enough scientific consensus to be included in the Established reports.
Very often there will be some markers for a particular disease that have reached &#8220;Established&#8221; status, while some have not.   In these cases there can be two reports (one Established, and one Preliminary) for the same condition.   This allows us to provide customers with a fuller picture of the scientific research, while at the same time indicating differing levels of confidence in different markers. 
The apparently conflicting predictions of an Established report and a Preliminary report are not inconsistent.   Consider smoking, weight and your risk of heart disease. Your weight might suggest a low risk for heart disease, while your smoking habits may suggest otherwise.   This example is analogous to cases of conflicting predictions in the GAO report, which rely on different genetic markers: one genetic variation may suggest an increased risk while another may suggest otherwise.
The GAO report does not reflect the great pains we have made on our website to make clear the differences between Established and Preliminary Research Reports.   We are, however, always looking for ways to improve our service, and we will take the feedback from GAO on this matter into consideration and look for even more ways to increase customer understanding.
5) &#8220;follow-up consultations offered by three of the companies provided only general information and not the expert advice the companies promised to provide&#8221;
This criticism does not apply to 23andMe because we do not have in-house genetic counselors.   We therefore can&#8217;t comment on the quality of the information provided by the &#8220;experts&#8221; the GAO had consultations with.
23andMe has always felt strongly that customers with questions about their data should consult with independent health care professionals so as to receive unbiased advice.   We provide a list of resources in every report directing customers to the National Association of Genetic Counselors, which maintains a website that can help people find local health professionals trained in genetics.
23andMe is also collaborating with Informed Medical Decisions, Inc., to give customers direct access to board-certified genetic counselors that have been specifically trained to guide them through their 23andMe results.   By design these counselors are independent of 23andMe, giving customers the opportunity to get unbiased information from a trained medical professional.
In conclusion, 23andMe is extremely disappointed that we did not have the opportunity to address all of these concerns at the Congressional hearing, or sooner, due to our lack of access to the report.   These are serious issues that deserve serious and thoughtful discussion.   Standards are needed in the genetic testing industry.   We have been working towards these since the inception of our company, and we were pleased to hear FDA say that they are interested in developing a new type of regulatory framework that can deal with the many special aspects of direct-to-consumer genetic testing while still providing consumers with the protections they need and deserve.   23andMe is meeting with the FDA today and looks forward to fruitful discussion.

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