<img loading="lazy" decoding="async" class="alignright size-full wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="237" height="236" 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: 237px) 100vw, 237px" />
At 23andMe, our goal is to give people the best information possible about their personal genetic data.   We believe that this goal is shared by all genetic testing providers.
You may be aware that different personal genetic testing companies, while providing completely accurate test results, may provide differing risk estimates for some diseases and conditions.   While there are valid scientific reasons for such different estimates, they might nevertheless cause confusion for some consumers and physicians.
23andMe has sent a letter to Dr. Margaret Hamburg, Commissioner of the Food and Drug Administration, and Dr. Francis Collins, Director of the National Institutes of Health, asking for their respective agencies&#8217; help in developing broadly applicable standards and guidelines to achieve consensus regarding how to provide information on genetic test results and risk estimates.   The contents of this letter are reprinted below (links to the referenced article and blog post are provided here instead of attachments):
June 24, 2010
Dr. Margaret Hamburg 
Commissioner of Food and Drugs 
Food and Drug Administration 
10903 New Hampshire Ave 
Silver Spring, MD 20993-0002
Dr. Francis Collins 
Director 
National Institutes of Health 
9000 Rockville Pike 
Bethesda, Maryland 20892
Dear Drs. Hamburg and Collins,
We are writing to ask your assistance in resolving an issue of concern to 23andMe and, likely, all genetic testing companies, whether they report their results to physicians or to consumers.   As you are aware, though results from 23andMe and other genetic testing companies are typically consistent, there have been reports of inconsistencies (Ng et al. 2009).   We believe that it is important to emphasize that different genetic testing companies can report inconsistent results even when based on tests with proven analytical validity.   The reasons for this may include: 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.
Although inconsistent results may have a scientifically valid basis, we recognize that they may be confusing to physicians and consumers.   However, we, as an individual company, cannot address this issue alone.   Therefore, we are writing to ask your two agencies to engage with us on this issue, to work towards solutions that can be broadly applied.   We offer the following ideas as a starting point for discussion.   An organization or group of organizations could develop:
<ul style="padding-left: 30px;">
<li>guidelines for acceptable analytical validity;</li>
</ul>
<ul style="padding-left: 30px;">
<li>standards for the positive and negative predictive value of all tests;</li>
</ul>
<ul style="padding-left: 30px;">
<li>“best practices” for companies, for instance necessitating transparency in reporting the positive and negative predictive values of their tests, so that results could be readily compared across companies.</li>
</ul>
We note that any framework developed for genetic testing companies must consider the multiple high throughput technologies on the horizon, including genome, exome and transcriptome sequencing.   For this reason, the set of ideas we present above does not include having an organization define a specific set of markers as an acceptable genetic test.
The issue of inconsistent results was one of several discussed in an <a href="https://www.nature.com/nature/journal/v461/n7265/full/461724a.html" target="_blank" rel="noopener">Opinion piece</a> by Pauline C. Ng, Sarah S. Murray, Samuel Levy and J. Craig Venter that appeared in the October 8, 2009 issue of Nature.   A joint response from 23andMe and Navigenics submitted to Nature but not published by Nature was posted on our web site on November 19, 2009.   We have attached <a href="https://blog.23andme.com/articles/23andme-navigenics-open-letter-to-nature" target="_blank" rel="noopener">our open letter to Nature, and a response from one of the authors for your consideration</a>.
Our goal is to provide the best possible information to consumers and health care practitioners.   We would appreciate the opportunity to work with you towards this goal and, more broadly, to promote innovation in personalized medicine.   We will follow up with a call to your offices.
Sincerely yours, 
Ashley Gould 
on behalf of Anne Wojcicki

23andMe Blog

23andMe Blog Team

23andMe Letter to Heads of FDA and NIH

<a href="http://www.nlm.nih.gov/medlineplus/ency/article/001450.htm" target="_blank" rel="noopener">Alopecia areata</a> is a form of hair loss many people are unfamiliar with, although the condition affects more than five million people in the United States. &nbsp; Unlike male (or, more rarely, female) pattern baldness, which is thought to be caused by hormones, alopecia areata results from an autoimmune attack on hair follicles. &nbsp; It can lead to the loss of hair on the scalp and elsewhere on the body. &nbsp; Men and women are affected equally.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-3837" title="DNA code analysis" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/atcg.jpg" alt="" width="343" height="227" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/06/atcg.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2009/06/atcg-300x199.jpg 300w" sizes="auto, (max-width: 343px) 100vw, 343px" />
As is the case for most autoimmune diseases, whether or not a person is affected by alopecia areata is at least partially determined by genetics. &nbsp; But finding the genes responsible for the condition has so far not been very successful. &nbsp; The first genome-wide association study of alopecia areata, however, has yielded a bumper crop of genetic variants associated with the condition. &nbsp; These results, published online today in the journal <a href="https://dx.doi.org/10.1038/nature09114" target="_blank" rel="noopener">Nature</a>, not only shed light on biology behind alopecia areata, but may also guide the development of new treatments.
&#8220;This research is very exciting as alopecia areata affects a huge number of people worldwide, and there are very few treatments for it –resulting in an enormous unmet medical need,&#8221; said Vicki Kalabokes, president and CEO of the National Alopecia Areata Foundation, in a statement.
A team of researchers led by Angela Christiano of Columbia University analyzed the DNA of 1,054 people with alopecia areata and 3,278 controls, all of European ancestry. &nbsp; They found 16 blocks of variation that showed significant association with risk for the condition. &nbsp; Some of the variations the researchers found were, not surprisingly given the autoimmune nature of alopecia areata, in genes involved in the immune system. &nbsp; But others were in genes turned on in the hair follicles themselves.
One of the hair follicle genes identified in the study was ULBP3. &nbsp; This gene encodes a protein that signals to the immune system that a cell is under stress or in danger and should be destroyed for the good of the rest of the body. &nbsp; When the researchers looked at hair follicles under a microscope, they found that follicles from people with alopecia areata had higher than normal levels of ULBP3. &nbsp; They also found that many of the immune cells attacking the follicles expressed NKG2D, the receptor that recognizes and binds to the protein.
More research will be needed to confirm these findings, but Christiano&#8217;s team suggests that in genetically susceptible individuals, increased ULBP3 acts as the initiating factor for the autoimmune response seen in alopecia areata. &nbsp; If this is true, it could open up new avenues of treatment.
Because the symptoms of alopecia areata resemble those of psoriasis, another autoimmune disorder, doctors have tried treating the hair loss condition with the same treatments used for psoriasis. &nbsp; But they have seen little success. &nbsp; This new study shows why — very few of the genes involved in alopecia areata are also linked to psoriasis, suggesting that the diseases don&#8217;t share much similarity at the molecular level.
Many of the alopecia areata genes, however, have been linked to other autoimmune diseases, including <a href="http://www.innovations-report.com/html/reports/medicine_health/report-30261.html" target="_blank" rel="noopener">type 1 diabetes</a>, <a href="http://www.fhcrc.org/about/pubs/center_news/2003/sep4/sart1.html" target="_blank" rel="noopener">rheumatoid arthritis</a> and celiac disease. &nbsp; All of these diseases have also been connected to immune cells expressing the NKG2D receptor. &nbsp; In a statement, Christiano explained that since drugs targeting this receptor are already <a href="http://www.faqs.org/patents/app/20100056764" target="_blank" rel="noopener">in development</a> for these other autoimmune disease, researchers may soon be able to test these same medicines in clinical trials for alopecia areata.
&#8220;Finally, we have the possibility of developing drugs that specifically target the mechanism behind the disease,&#8221; said Christiano.

Genetic Variations Associated with Autoimmune Form of Hair Loss, Alopecia Areata

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3440" title="Abstract DNA" src="https://blog-api.23andme.com/wp-content/uploads/2009/04/istock_000002166527xsmall.jpg" alt="" width="310" height="226" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/04/istock_000002166527xsmall.jpg 406w, https://blogcms.23andme.com/wp-content/uploads/2009/04/istock_000002166527xsmall-300x219.jpg 300w" sizes="auto, (max-width: 310px) 100vw, 310px" />
British researchers have identified four new genetic variants that may influence a male&#8217;s risk for testicular cancer.   These results, published recently in the journal <a href="https://dx.doi.org/10.1038/ng.607" target="_blank" rel="noopener noreferrer">Nature Genetics</a>, along with variations in <a href="https://blog.23andme.com/articles/snpwatch-genetic-variations-that-may-affect-testicular-cancer-risk-identified/" target="_blank" rel="noopener noreferrer">three genetic regions previously identified by the same group, </a> are beginning to shed some light on the biological mechanisms underpinning testicular cancer.
Testicular cancer is the most common type of cancer in men age 15 to 35, and it is on the rise.   About 8,000 men in the United States are diagnosed each year.   This is about double what was seen in the 1970s.   The speed of this increase <a href="https://blog.23andme.com/articles/environment-not-genes-key-to-increasing-disease-rates/" target="_blank" rel="noopener noreferrer">suggests that environmental factors are at work</a>, but researchers know that genes have a substantial influence on the disease too — testicular cancer is one of the most heritable types of cancer.   The risk of testicular cancer is increased 8-10 fold for brothers and 4-6 fold for fathers of patients.
Clare Turnbull and colleagues analyzed the DNA of 979 men with testicular cancer and 4,947 controls, all of European descent.   Many of these men were included in the group&#8217;s previous study.   The four SNPs most strongly associated with testicular cancer were then followed up in an additional sample of 664 cases and 3,456 controls, where evidence of association was also found.

Two of the newly identified SNPs, lie in region of the genome previously associated with multiple cancers, including lung cancer, glioma, bladder cancer, cervical cancer, prostate cancer, basal cell carcinoma and melanoma. The third SNP identified by the researchers, , is located near a gene that encodes a factor that turns on the telomerase enzyme.   Telomerase helps maintain the length of the protective caps on the ends of chromosomes called telomeres.
Finally, the researchers found a link between in the DMRT1 gene with testicular cancer.   This gene is known to be involved in testicular development.   In mice, loss of this gene is associated with testicular cancer.
The researchers calculated that the four variants they identified in this study account for 4% of the risk to brothers and 6% of the risk to sons of men with testicular cancer.   Taking into account the variants they previously identified, Turnbull et al. say that 11% and 16% of the risk is explained, respectively.
All of the SNPs now associated with testicular cancer are in genes that fall into three main biological pathways, all plausible candidates for involvement in testicular cancer.   Further research into these variants and the genes in which they are found will hopefully uncover the mechanisms of cancer predisposition.   Additionally, further research may also reveal more genetic variants associated with risk for testicular cancer.

Four More DNA Variations Linked to Testicular Cancer

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6693" title="Fireworks" src="https://blog-api.23andme.com/wp-content/uploads/2010/06/iStock_000006677641XSmall.jpg" alt="" width="332" height="361" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/06/iStock_000006677641XSmall.jpg 332w, https://blogcms.23andme.com/wp-content/uploads/2010/06/iStock_000006677641XSmall-276x300.jpg 276w" sizes="auto, (max-width: 332px) 100vw, 332px" />
23andMe is proud to announce the first publication out of 23andWe, our novel participant-driven research program.
Our results, which encompass replications of previous findings and newly discovered associations, appear online today in PLoS Genetics.
<a href="https://www.23andme.com/research/" target="_blank" rel="noopener">23andWe</a> is a web-based research framework designed to simultaneously facilitate the rapid recruitment of participants to many studies, thus reducing the time and money needed to make new discoveries.
&#8220;This paper announces and validates a revolutionary way of conducting scientific research,” said our President and Co-Founder, Anne Wojcicki.   “In this paper, we confirm that self-reported data from our customers has the potential to yield data of comparable quality to data gathered using traditional research methods.  We are excited about moving scientific research forward faster.&#8221;
(Check out &#8220;Sergey&#8217;s Search&#8221; in the current issue of Wired to learn how this approach is allowing us to validate genetic associations in a fraction of the time traditionally needed.   And check out this <a href="https://blog.23andme.com/articles/23andme-and-a-new-paradigm-for-research" target="_blank" rel="noopener">recent Blog post</a> to read about some of our other 23andWe successes.)
Over 9,000 people contributed data to our study of 22 separate traits. Novel SNP associations were revealed for hair curl, asparagus anosmia (the inability to detect the scent of specific asparagus metabolites in urine), the photic sneeze reflex (the tendency to sneeze when entering bright light), and freckling.
Previously identified genetic associations between nine genes and certain pigmentation-related traits (hair color, eye color, and freckling) were replicated.
23andMe chose to publish its results in PLoS Genetics because of the journal&#8217;s open-access policy. This policy allows anyone–including 23andMe customers who contributed to the research–to freely access the study. Customers will also see the results incorporated into the reports available in their online accounts.

23andMe Validates New Research Paradigm

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="305" height="305" 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: 305px) 100vw, 305px" />
Today, 23andMe is pleased to announce that we have received institutional review board (IRB) approval for our research protocol and an accompanying revised Consent Document.   This approval reaffirms that all 23andMe research efforts intended for publication protect the interests of our customers.   Our absolute commitment to privacy has not changed.
An IRB is an independent panel charged with ensuring that every step of a study’s protocol follows federal guidelines on research protections for human subjects.   IRB approval is required when individuals directly interact with researchers and/or individual, identifying information is made visible to researchers or third parties.
Because the 23andMe protocol excludes individual identifying information (e.g. name, email address, user ID, Password, payment information, etc.) and our analysts do not interact directly with customers during data collection, our research technically does not require IRB review.   This would be true even if the federal government funded our work.
While IRB approval is not required, we sought IRB approval for our research protocols and customer consent language to ensure that our work is in line with scientific research best practices.   This has taken some time because 23andMe&#8217;s innovative new model of research was not originally anticipated by traditional IRB guidelines.
So what has changed?
The new IRB-approved consent process lets customers use our service and access their own data, regardless of whether or not they want to be part of research that will be published in a peer-reviewed scientific journal.   Previously, customers opted into this research by purchasing our service, then completing and submitting surveys.   Now, however, customers must explicitly choose to allow their genetic and survey data (in an aggregated and de-identified form, as always) to be used in published research.
What hasn&#8217;t changed:<ins cite="mailto:Erin%20Cline" datetime="2010-06-18T15:11"><ins cite="mailto:Erin%20Cline"></ins></ins>
23andMe remains committed to furthering personalized medicine.   As such, we use data from all customers (including those who have not consented to be part of published studies) for company research aimed at making new discoveries and developing new features and products.   This research is not intended for publication and is sometimes undertaken in association with our partners.   We believe consumer-driven research will lead to significant findings that will benefit us all in the future.
Visit the 23andMe website to read the full <a href="https://www.23andme.com/about/consent/" target="_blank" rel="noopener noreferrer">Consent Document</a>, as well as updated versions of the <a href="https://www.23andme.com/about/tos/" target="_blank" rel="noopener noreferrer">Terms of Service</a> and <a href="https://www.23andme.com/about/privacy/" target="_blank" rel="noopener noreferrer">Privacy Statement</a>.

23andMe Improves Research Consent Process

As highlighted in Thomas Goetz&#8217;s new Wired article &#8220;Sergey&#8217;s Search,&#8221; 23andMe&#8217;s innovative web-based research platform is pushing <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson&#8217;s disease research</a> ahead at an unprecedented pace.   With our database clocking in at 50,000 genotyped customers–a number that grows daily–we&#8217;re poised to make exciting discoveries in many other areas.
As long as we are tooting our own horn, here are some other numbers we&#8217;d like to shout from the rooftops:
<ul>
<li>40 research surveys in progress</li>
</ul>
<ul>
<li>29,000 customers participating in research…so far</li>
</ul>
<ul>
<li>9 MILLION research questions answered</li>
</ul>
<ul>
<li>650+ genome-wide association studies being run in parallel</li>
</ul>
<ul>
<li>100s of genetic associations found — both replications and novel discoveries</li>
</ul>

23andMe and a New Paradigm for Research

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-6638" title="freckles_moles" src="https://blog-api.23andme.com/wp-content/uploads/2010/06/freckles_moles-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/06/freckles_moles-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/06/freckles_moles.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Melanoma is a rare but deadly form of skin cancer. Known risk factors include pale skin, large numbers of moles (also known as nevi), and prolonged sun exposure. Nevus count has a strong genetic component and researchers have already identified some genetic variants that influence the trait. In a new study published in <a href="http://www.cell.com/AJHG/abstract/S0002-9297(10)00265-X">American Journal of Human Genetics</a>, an international team of scientists led by David Duffy and Grant Montgomery reports a genetic variant newly associated with nevus count and melanoma risk, but with an interesting twist.
When Duffy’s team examined data from about 2,000 adolescents of European ancestry living in Australia, they found that each copy of a T at variant was associated with a significant increase in numbers of “flat” nevi (the most common type of nevus). When they looked at data from the parents of the adolescents, however, they saw no such effect. In fact, the data suggested that the C version of — not the T version — was associated with higher nevus counts in older people. Comparing these results with data from thousands of individuals from the UK confirmed the differing age-dependent effects of .
To investigate whether also influences risk for melanoma, the researchers analyzed data from approximately 3,500 individuals with melanoma and over 5,000 healthy individuals, all of European ancestry. The C version of was associated with 1.15 times higher odds of disease, but when they restricted the analysis based on the location of the melanoma, the association was only significant for melanomas on the trunk (main torso). Each copy of a C led to about 1.3 times higher odds of truncal melanoma.
The mechanisms connecting to melanoma risk are not yet fully understood. While the T version of has been associated with traits typically considered risk factors for melanoma (pale skin, dark hair, and freckling), this study suggests that the T version actually protects against the disease. The observation of age-dependent effects on nevus counts adds more wrinkles to the story. Duffy and his colleagues posit that individuals with a T at are more likely to develop large numbers of moles early in life, but that these moles tend to disappear with age. More research will be needed to determine the relationship between age-dependent patterns of nevus counts and melanoma risk.

Genetic Variant Contributing to Melanoma Risk has Different Effects on Mole Count Depending on Age

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3410" title="istock_000002436798xsmall" src="https://blog-api.23andme.com/wp-content/uploads/2009/04/istock_000002436798xsmall.jpg" alt="" width="279" height="185" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/04/istock_000002436798xsmall.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2009/04/istock_000002436798xsmall-300x199.jpg 300w" sizes="auto, (max-width: 279px) 100vw, 279px" />
The Genetic Information Nondiscrimination Act, or GINA, is U.S. federal legislation that protects Americans from discrimination (in health insurance and employment decisions) on the basis of genetic information. GINA was signed into law by President George W. Bush on May 21, 2008.
The <a href="http://www.geneticalliance.org/" target="_blank" rel="noopener">Genetic Alliance</a>, the Genetics and Public Policy Center at the Johns Hopkins University, and the National Coalition for Health Professional Education in Genetics have created an online resource to help people better understand the protections GINA provides.   This information is available in English and Spanish at <a href="http://www.ginahelp.org" target="_blank" rel="noopener">www.GINAhelp.org</a>.

Understanding GINA

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="222" height="221" 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: 222px) 100vw, 222px" />
We recently determined that a number of new 23andMe customer samples were incorrectly processed by our contracted lab. We want to clarify what happened with the sample errors, how it happened and what we&#8217;re doing to prevent it from happening again. Providing each and every one of our customers with accurate data is 23andMe&#8217;s number one priority, and we fully realize the gravity of this incident.
After a full investigation from our contracted laboratory and independent confirmation by 23andMe, we have found that the processing mistake was caused by human error and the incorrect placement of a single 96-well plate used in processing samples.
We are uploading the correct data to impacted customers today, after again independently verifying the new results.
Both our contracted laboratory and 23andMe are adding new procedures to prevent this from happening again. &nbsp; Our contracted laboratory has adjusted the mounting process for these 96-well plates and this new adjustment physically prevents any incorrect manual placement of the plates used at this step of processing. &nbsp; As an additional safeguard, 23andMe will collect data regarding sex for all new customers prior to laboratory processing so an additional quality check can be conducted prior to uploading data.
We are committed to continually improving the quality of our processes. &nbsp;We hope this clarifies what has happened and how we intend to prevent this from happening in the future.

Latest Posts — Page 174