We wear pink ribbons. We walk or run for the cause. We have a month for awareness, and yet many women who have a higher risk variant in the BRCA1 or BRCA2 genes remain unaware of their heightened genetic risk for breast and ovarian cancer until a doctor diagnoses them with cancer.<a id="a1" href="#f1">[1]</a> 
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-250x300.jpg" alt="" class="alignright size-medium wp-image-22084" width="250" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-250x300.jpg 250w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-768x923.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-852x1024.jpg 852w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-732x880.jpg 732w, https://blogcms.23andme.com/wp-content/uploads/2015/01/Anne_Color_-Seated-982x1180.jpg 982w" sizes="auto, (max-width: 250px) 100vw, 250px" />
That’s a failure. 
This is not a radical indictment of the American healthcare system; it’s just a fact. We are very good at treating illnesses, but not at preventing them. 

<h6>BRCA</h6>
Under the current system, there are specific guidelines for BRCA screening that limit who has access to BRCA testing. Family history of cancer and Ashkenazi Jewish ancestry are the most common criteria for screening guidelines. However we have seen at 23andMe that many people do not know their family medical history or their ancestry. So, many people fall through the cracks in the current screening system leaving them unaware of their risk. <a id="a2" href="#f2">[2]</a>
It doesn’t have to be that way.
<h6>23andMe&#8217;s BRCA1/BRCA2 Report</h6>
Today, 23andMe received the first-ever FDA authorization for a direct-to-consumer genetic test for cancer risk for its BRCA1/BRCA2 (Selected Variants) report. The report covers three variants in the BRCA1 and BRCA2 genes associated with increased risk for breast, ovarian, and prostate cancer. These variants are most common in people of Ashkenazi Jewish descent.
Worrying about the many current 23andMe customers who have one of or more of these variants has caused me sleepless nights. We believe they have the right to know about this risk, if they choose. And it&#8217;s more than just women — men with one of the BRCA1 or BRCA2 variants we test for are at higher risk for male breast cancer, and may have a higher risk of certain other cancers as well. Men who find out they have one of the tested BRCA variants can also alert female relatives who might benefit from knowing about their potential genetic risk.
<h6>Opportunities for Prevention</h6>
Importantly, studies have found women falling through gaps in breast cancer screening. In her 2015 recommendation for broader screening, <a href="http://www.ascopost.com/issues/february-10-2015/dr-mary-claire-king-proposes-population-screening-in-all-young-women-for-brca-mutations/">geneticist Mary-Claire King, Ph.D., said</a>, “Every breast cancer patient we identify after she develops cancer clearly represents a missed opportunity for prevention.”
A <a href="http://www.pnas.org/cgi/doi/10.1073/pnas.1415979111">2014 study</a> led by Dr. King found that 50 percent of families that had a BRCA1 or BRCA2 mutations had no history of breast or ovarian cancer that would have triggered clinical attention. Similarly our own data shows that a significant number of 23andMe customers who have one of the selected BRCA mutations for which we test, would likely not meet traditional guidelines for screening because they reported being unaware of their ancestry or a family history of cancer. 
Those customers — carriers of the selected BRCA1/BRCA2 variants who reported no family history of cancer and no Jewish ancestry — would likely never know about their risk because they’d never be offered screening under traditional guidelines. It’s a small but significant number of people, and for those individuals, this information could have a profound impact in their lives.<a id="a3" href="#f3">[3]</a>
<h6><img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-300x300.png" alt="" class="alignright size-medium wp-image-26062" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-1024x1024.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2018/03/BRCA-Launch_1080x1080.png 1080w" sizes="auto, (max-width: 300px) 100vw, 300px" />Unexpected Findings</h6>
A few years ago, 23andMe studied how people react to<a href="https://peerj.com/articles/8/"> unexpected BRCA findings</a>.<a id="a4" href="#f4">[4]</a> Researchers found that the results didn’t induce anxiety, which was the concern of many. Instead, they sparked crucial conversations among families. These conversations, in turn, created what researchers call a “cascade effect.” These are benefits that extend beyond the person who tested. They extend to members of that person&#8217;s family. It gives each a warning of a potential risk not just for breast, but also ovarian as well as prostate cancer in men.
This was a small study, but since the paper was published a lot has happened. 23andMe had to suspend offering genetic health risk reports — including the BRCA1/BRCA2 report — to customers as we went through an FDA review of our ability accurately detect these variants. We also had to show to the FDA that we could report genetic health risk information to customers in a way that could be easily understood. We did that.
Let’s be clear. 23andMe’s new report, once it’s available, does not diagnose cancer and cannot rule out your chances of getting cancer. It doesn&#8217;t cover most of the thousands of BRCA1 and BRCA2 variants associated with increased cancer risk. There are also variants in other genes associated with hereditary cancer, or non-genetic factors such as environment and lifestyle. The report should not be used on its own to make medical decisions. Results should be confirmed with a healthcare provider in a clinical setting before taking any medical action. 
23andMe’s BRCA1/BRCA2 report is not going to be helpful for everyone, but it’s a step in the right direction. We already know of customers who benefited from this information.
<h6>Taking Action</h6>
I know some of these women. They are among the 23andMe customers who tested more than four years ago when we previously offered this report.
&nbsp;
Women like Hilary Hood, a photographer, and mother of three grown daughters, who was surprised to learn about her breast cancer risk after testing with 23andMe. 
“It didn’t occur to me that I was at risk because I didn’t have a mother or sister or aunt with it,” she said. “I didn’t understand the genetic component.”
&nbsp;
It was a shock for Ann Mellinger too. 
&nbsp;
Ann, a CEO, and mother in New York didn’t have information about her biological father’s family health history. 

&nbsp;
“Most people who test positive for the BRCA1 mutation have a family history of breast and ovarian cancer, but I was aware of no cases in our family,” she said. “Knowledge is power, and in my case, the information I gained could quite possibly have saved my life.”
&nbsp;
Now, more than four years later, with our third FDA authorization we can again offer a BRCA report to customers covering the selected BRCA1/BRCA2 variants. It’s the first time the Agency has authorized a direct-to-consumer genetic test for cancer risk without a prescription. 
&nbsp;
This is a major milestone for 23andMe. But more importantly, a significant step forward for consumers who want direct and affordable access to their health information. Over the last four years, it has kept me up at night knowing that we have customers with one of these risk variants but have been unable to tell them. I can sleep better knowing that soon, if our customers choose to, they can view this information. We know from our own data that this information can be incredibly meaningful for customers and, in some cases, could even save lives. 
<footer class="footnotes">References:</footer>
<footer class="footnotes">
<a id="f1" href="#a1">[1]</a><a href="https://jamanetwork.com/searchresults?author=Mary-Claire+King&amp;q=Mary-Claire+King" target="_blank" rel="noopener noreferrer">King, M</a> et al. (2014). &#8220;<a href="https://jamanetwork.com/journals/jama/fullarticle/1902783">Population-Based Screening for BRCA1 and BRCA2</a>&#8221; JAMA. 2014;312(11):1091-1092. doi:10.1001/jama.2014.12483 <a href=" https://jamanetwork.com/journals/jama/fullarticle/1902783"></a></footer>
<footer class="footnotes">
<a id="f2" href="#a2">[2]</a>Ibid.</footer>
<footer class="footnotes">
<a id="f3" href="#a3">[3]</a>Statistics come from internal data of 23andMe customers. 23andMe’s research team is working on a manuscript focusing on this data.</footer>
<footer class="footnotes">
<a id="f4" href="#a4">[4]</a><a href="https://peerj.com/articles/8/" target="_blank" rel="noopener noreferrer">Francke, U</a> et al. (2013). &#8220;<a href="https://jamanetwork.com/journals/jama/fullarticle/1902783">Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing</a>&#8221; PeerJ 2013. </footer>

23andMe Blog

23andMe Blog Team

A Major Milestone in Consumer Health Empowerment

This interview is part of an occasional series of profiles introducing you to the people behind 23andMe’s compelling research. Chao Tian is a statistical geneticist, who came to 23andMe after <img loading="lazy" decoding="async" class="alignright size-medium wp-image-20935" src="https://blog-api.23andme.com/wp-content/uploads/2014/05/Chaos-Photo-200x300.jpg" alt="Chao's Photo" width="200" height="300" />studying Genetics and Statistics at UC Davis and working for two other genetics startups in the Bay Area. At 23andMe, Chao studies the genetic factors that affect drug response, and she is also working on improving our genome-wide association studies.
“Genetics is important, and we need more data to make it useful.”
<h6>Why are you excited about genetics? 
</h6>
I’ve always thought genetics was a very interesting field, especially after the human genome sequence was completed. Being able to decode yourself is very cool, and if you can understand yourself at a molecular level, it will show us more about what humans are made of.
<h6>Tell us about one of your interesting research findings. 
</h6>
One of the most interesting things we’ve been looking at is medical records. We are comparing medical record data with 23andMe surveys, and so far have found the correspondence to be very high. People who fill out 23andMe surveys tend to provide very accurate responses, and that information corresponds highly enough to medical records that it could be statistically relevant for future studies.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Chao Tian, PhD Statistical Geneticist 
Education:BA Wuhan University, China 
PhD, Statistical Genetics, UC Davis 
Fun Fact:I write classical Chinese poetry. If I hadn’t chosen science, I would’ve pursued a literature degree.</div>
Last year I also presented a paper at <a href="https://blog.23andme.com/23andme-research/23andme-at-ashg/">ASHG</a> called, “<a href="https://blog-api.23andme.com/wp-content/uploads/2013/10/GWAS-for-Susceptibility-to-Infection.pdf">GWAS Identifies Classical HLA Alleles Associated with Susceptibility to Infectious Diseases</a>.” For that research, we studied 23 infectious diseases like chickenpox, shingles, strep throat and mumps etc. to find associated proteins and alleles. The results of the study could impact future vaccine design and disease preventions.
<h6>What interesting thing have you learned about yourself from being tested? 
</h6>
I’ve learned that we need more data. As an Asian person, I received different results from the 23andMe test than most of our European customers. As we get more data from our customers, we’ll be able to improve our results to reflect the diverse culture here in the US. I can just imagine the sheer value of having millions of phenotypes – especially across a diverse range of ethnicities. Once we have bigger sample sizes, we’ll be able to repeat a lot of the studies traditionally done on Europeans for people with diverse backgrounds.
<h6>Tell us about a recent breakthrough in genetics research that you think will have a big impact. </h6>

<a href="https://blog.23andme.com/health-traits/talking-about-breast-cancer-risk/">Angelina Jolie’s decision</a> to undergo a double mastectomy, due to her genetic risk of breast cancer and family history of the disease, brought a lot of attention to genetics. Currently available BRCA tests can now easily test for the rare variant mutations in the breast cancer gene with incredible accuracy. In the future we’ll be able to bring that level of accuracy into testing for other diseases, and that’s very important.
<h6>What&#8217;s one thing the average person should know about genetics? 
</h6>
Genetics is important. It can determine if you’re at high risk for certain conditions and enable you to take action to prevent that.

A Conversation With 23andMe Researcher Chao Tian

In honor of the <a href="http://traditions.cultural-china.com/features/horse/" target="_blank" rel="noopener noreferrer">Chinese New Year</a>, we’re taking one last look at the genetic milestones of 2013, with our 2013 year in review.
From a Supreme Court ruling on patenting genes, to Angelina Jolie’s bold revelations about her genetic risk for breast cancer, to the FDA ordering 23andMe to stop offering health results pending a regulatory review   – 2013, and the Year of The Snake was filled with notable news in genetics.
So take a look back at last year with us and prepare for another galloping year in the world of genetic science in this, the <a href="http://traditions.cultural-china.com/features/horse/" target="_blank" rel="noopener noreferrer">Year of The Horse.</a>
<img loading="lazy" decoding="async" class="alignnone size-full wp-image-20283" alt="012814_YearInReviewSocial" src="https://blog-api.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial.jpg" width="600" height="2173" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial.jpg 600w, https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial-83x300.jpg 83w, https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial-283x1024.jpg 283w, https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial-243x880.jpg 243w, https://blogcms.23andme.com/wp-content/uploads/2014/01/012814_YearInReviewSocial-326x1180.jpg 326w" sizes="auto, (max-width: 600px) 100vw, 600px" />

23andMe Looks Back One More Time

Each year at this time 23andMe puts together a list of the most interesting genetic findings of 2013. We’re doing that again but with a twist.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg" alt="top10ten" class="alignright size-medium wp-image-10750" width="266" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg 266w, https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten.jpg 306w" sizes="auto, (max-width: 266px) 100vw, 266px" />
We want to include in our list a few things that aren’t findings or discoveries, but clearly, these stories have had a huge impact on the field of genetics. The fact that these stories made such a big splash beyond the world of science and health reporting illustrates how important genetics has become for everyone.
As far as research goes, in the last year, we’ve seen the continued rapid pace of discovery in genetic sciences. These new findings have included research into the biology of disease, mental illness and new insights into our understanding of human evolution. Researchers here at 23andMe are also a part of this push to understand not just the human story, but the biology of disease and the role genetics plays in our lives.
So let’s take a quick look back at the last year and 23andMe’s list of the Top Ten Genetic Stories of 2013.
<h6> THE ANGELINA EFFECT<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2013/12/Angelina-image-196x300.jpg" alt="46th New York Film Festival &quot;Changeling&quot; Premiere - Inside Arrivals" class="alignright size-medium wp-image-20131" width="173" height="265" /></h6>
Angelina Jolie’s<a href="https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html"> revelation</a> that she underwent a double prophylactic mastectomy after learning she had a mutation in the BRCA1 gene, brought genetic screening into sharp focus for everyone. In making her difficult choice, she took into consideration her family history – her mother died of ovarian cancer (also associated with BRCA1 gene mutation) and her aunt also had breast cancer   – her ancestry and her age. Going public with her story also offered comfort to many women facing similar choices.
<h6>EWWW</h6>
It probably wasn’t what Walt Whitman<a href="http://www.daypoems.net/plainpoems/1900.html"> meant</a>, but indeed we all “contain multitudes.” Our bodies are host to literally trillions of microorganisms that make up the “human microbiome,” and those organisms play a very important but not fully understood role in our health. There is also a link between the make-up of that microbiome and the genetic variation of our immune systems, which is another thing we haven’t yet fully figured out. But even without fully understanding how these all interrelate, doctors have started to use these important microorganisms to treat illnesses. Early in the year, the New England Journal of Medicine published a study that followed 16 patients who were treated for a severe gut infection with a<a href="https://www.nature.com/news/faecal-transplants-succeed-in-clinical-trial-1.12227"> fecal transplant.</a> While it might be something you’d rather not talk about over dinner, the treatment of the Clostridium difficile infection worked in 15 of the 16 patients.
<h6>FIVE MENTAL ILLNESSES SHARE A COMMON GENETIC LINK</h6>
A<a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2812%2962129-1/fulltext"> study published in early 2013</a> found that five very distinct psychiatric disorders share an association with some variants in genes that control signaling in the brain. The large study looked at schizophrenia, bipolar disorder, autism, major depression and attention deficit hyperactivity disorder. Although these are very different conditions, the findings may help researchers better understand the underpinnings of these very different illnesses. Two of the four variants involve calcium channels, integral for signaling within the brain.
<h6 dir="ltr">NOTHING TO SNEEZE AT<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/allergy.jpg" alt="allergy" class="alignright size-full wp-image-6151" width="198" height="176" /></h6>
There’s an ongoing debate about the interplay between genetics and the environment in why there has been an apparent increase in the rate of allergies. There are many theories offered to explain this including the “<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841828/">hygiene hypothesis</a>,” which suggests that an increasingly sanitized environment inhibits the development of the immune system.  Another theory is that increased exposure to chemicals and pollutants are the culprits. The rate of <a href="http://www.jacionline.org/article/S0091-6749%2805%2901314-X/abstract">allergies</a> has more than<a href="https://www.cdc.gov/nchs/data/databriefs/db10.htm#howdoes"> doubled over the last decade</a>.   While this increase is pointing to environmental factors, genetics is an important component.
A study done by 23andMe scientists and researchers at the University of Bristol’s<a href="http://www.bristol.ac.uk/alspac/"> Avon Longitudinal Study of Parents and Children (ALSPAC)</a> in the UK found <a href="https://mediacenter.23andme.com/press-releases/allergies_2013">new genetic associations for asthma and allergies</a>. It was the largest genome-wide association study ever conducted on common allergies with data from more than 53,000 people. The study showed that there are also common genetic variants underlying allergies to cats, pollen and dust mites
<h6>HUMAN GENES CAN’T BE PATENTED</h6>
Not long after Angelina’s revelation, the Supreme Court unanimously decided to bar the patenting of human genes. The case involved Myriad Genetics, which has long held patents for breast and ovarian cancer screening. What’s not so clear from the Supreme Court’s decision is what sort of impact this decision will have on research and innovation. While several companies almost immediately jumped into BRCA testing, legal challenges by Myriad to   stop those efforts quickly followed, leaving more doubt about how this will all play out.
<h6>THE WAY BACK<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2013/05/neanderthal.jpg" alt="neanderthal" class="alignright size-full wp-image-18144" width="150" height="270" /></h6>
Scientists extracted DNA from a 400,000-year-old thigh bone found buried in a Spanish cave, known as<a href="https://www.nature.com/nature/journal/vaop/ncurrent/full/nature12788.html"> Sima de Los Huesos, or Pit of Bones.</a>  Apart from the big deal of extracting genetic material from a really, really old bone – the oldest human DNA recovered yet – the find also gives us more information about human evolution, namely that it’s not as linear as some have thought. The DNA in the bone resembled that of ancient humans known as Denisovan.
Because of the time frame and the location, many had thought the bones would be from Neanderthals. The Denisovan DNA was a bit of a head-scratcher. Previous finds placed Denisovans in Siberia and only at about 80,000 years ago. Clearly, this adds more nuances to the story of human evolution. We can also add more pieces to that understanding after another DNA find this year. DNA from the 24,000-year-old skeletal remains of a boy buried near Lake Baikal in Siberia, has also altered researchers&#8217; view of the migration patterns of early Europeans.
The DNA matched not just with Western Europeans but with Native Americans. This suggests that the earliest people to settle the Americas were<a href="http://www.sciencemag.org/content/342/6157/409.full"> a mix of both populations.</a> While previous research has suggested that Native Americans descended from people who migrated from Siberia, this overlap with early Europeans is new. It also suggests that during the last Ice Age, people from Europe had migrated farther east than previously thought.
<h6>ALZHEIMER’S SEQUENCE DATA – CHAPTER ONE</h6>
The more information we can collect from people with the disease, the better we can understand them. Researchers working on Alzheimer’s disease got a huge boost in their efforts this year after the first batch of genetic data was<a href="http://www.nih.gov/news/health/dec2013/nhgri-02.htm"> made available</a> as part of the<a href="https://www.niagads.org/adsp/"> Alzheimer&#8217;s Disease Sequencing Project</a>. The project, conducted by the National Institutes of Health, makes available full genome sequence data on 410 people with Alzheimer’s. The hope is that by offering this information to a wide range of researchers, it will open up the possibility of new discoveries.
<h6>SHARING DATA<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/atcg-200x200.jpg" alt="DNA code analysis" class="alignright size-thumbnail wp-image-3837" width="200" height="200" /></h6>
Hundreds of institutions worldwide are currently doing clinical and genetic research. If you could share that data and standardize how it is reported, you could make it that much more useful. That’s exactly what more than 70 medical, research and advocacy organizations did this year, the National Institutes of Health among them. They all agreed to set up a system<a href="https://www.broadinstitute.org/news/globalalliance"> to share genetic and clinical information</a>. By creating a database of genetic variation and health information, it would offer researchers, and doctors, a powerful resource for discovery.
Illustrating the power of shared data, using data from the Electronic Medical Records Genomics Network<a href="https://www.genome.gov/27540473"> (eMERGE</a>) for short – researchers have identified dozens of new variants linked to diseases ranging from skin cancer to anemia. The eMERGE data set allowed researchers to search by gene variant to find associated conditions. As the database grows it will allow researchers to discover connections between seemingly unrelated diseases and genetic variants.
The power of big datasets that include not just genetic information but also phenotypic information, is part of what 23andMe is all about. This year 23andMe researchers leverage our database and certain phenotypes to  functionally classify different genetic associations. our researchers presented some of our findings on this at the ASHG conference this year in Boston. Their findings show that on occasion, a single genetic variant will be associated with multiple different phenotypes. So for example, in autoimmune diseases, a single SNP influences multiple different diseases. Sometimes these shared associations are more surprising, such as the genetic association shared by both<a href="https://blog.23andme.com/health-traits/23andmes-latest-publication-shines-light-on-male-pattern-baldness-and-unexpected-associations-with-disease/"> Parkinson’s disease and baldness</a>. We’ve also found correlations between breast cancer and breast size, body mass index and food choice, and hair color and skin cancer.
<h6>MY, WHAT LONG TELOMERES YOU HAVE</h6>
Several papers this year indicate that genetic variants in telomere genes (such as TERT, TERC, POT1, etc.) not only influence the length of telomeres, which in turn is a good indicator of longevity, but those variants are also associated with certain cancers. Researchers in several different Genome-Wide Association Studies have found links to cancers such as multiple myeloma,<a href="https://www.ncbi.nlm.nih.gov/pubmed/23535731"> breast and ovarian cancer</a>, testicular cancer,<a href="https://www.ncbi.nlm.nih.gov/pubmed?cmd=retrieve&#038;list_uids=23143601&#038;dopt=citation"> lung cancer,</a> and chronic<a href="https://www.nature.com/ng/journal/v45/n5/full/ng.2584.html"> lymphocytic leukemia</a>.
<h6>23ANDME AND THE FDA</h6>
It’s not the kind of news we like, but there’s no way for us to do a roundup of the year&#8217;s big stories without mentioning that the FDA in December ordered 23andMe to stop offering new consumers access to their health-related genetic tests, while the company moves through the FDA’s regulatory review process. 23andMe remains committed to being a pioneer in the genetics revolution and has made its work with the FDA its top priority.
Making it all work will be good not just for the FDA and 23andMe, but for the future of the direct-to-consumer genetic testing industry. Individuals who want to understand their genetics will win too – that’s everyone’s goal. Here’s to 2014.

This Year’s Top Ten Genetic Findings of 2013

<img loading="lazy" decoding="async" class="alignright size-full wp-image-8490" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2011/02/mammogramblog.jpg" width="300" height="199">
<a href="https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?ref=health">Angelina Jolie’s revelation</a> in the New York Times today that she had a double mastectomy after learning about her genetic risk for breast cancer focused attention on the difficult dilemma faced by many women in similar circumstances.
Jolie said she decided to write about her case to help other women.
&#8220;I chose not to keep my story private because there are many women who do not know that they might be living under the shadow of cancer. It is my hope that they, too, will be able to get gene tested, and that if they have a high risk they, too, will know they have strong options,&#8221; she wrote.
The revelation has also prompted some of our customers to ask about what 23andMe reports concerning breast cancer.
First 23andMe’s test is not diagnostic. Our report on BRCA1 and BRCA2 looks at only three mutations in those two genes associated with breast cancer.
Finally, we inform customers that the absence of the mutations does not rule out the possibility that they may carry another cancer-causing variation in one of those genes.

Talking About Breast Cancer Risk

<img loading="lazy" decoding="async" class="aligncenter wp-image-16833 size-full" title="23andMe-Uta-007" src="http://35.88.189.111/wp-content/uploads/2012/11/23andMe-Uta-007.jpg" alt="" width="508" height="726" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/11/23andMe-Uta-007.jpg 508w, https://blogcms.23andme.com/wp-content/uploads/2012/11/23andMe-Uta-007-210x300.jpg 210w" sizes="auto, (max-width: 508px) 100vw, 508px" />
 
We know from scientific research that, in general, people don’t freak out about the results they get from personal genetic testing. When the results show an increased risk for serious illness, how do they react?
It turns out that even then, the news doesn’t trigger serious anxiety. Quite the contrary, the results, according to a new <a href="https://peerj.com/articles/8" target="_blank" rel="noopener noreferrer">23andMe study published today</a> in the online academic journal <a href="https://PeerJ.com" target="_blank" rel="noopener noreferrer">PeerJ</a> found these test results prompted people to take positive steps, including talking to their doctors and discussing the results with family members who could also be at risk.
Lead author of the study and 23andMe’s Senior Medical Director, <a href="https://blog.23andme.com/news/23andmes-uta-francke-lauded-by-ashg/" target="_blank" rel="noopener noreferrer">Dr. Uta Francke </a>said the research addresses one of the most urgent questions in the field of genetics, “namely the impact of receiving unexpected information about high genetic risk for a life threatening disease.”
In this case, the study looked at how people reacted when they learned for the first time that they carried a mutation in either the BRCA1 or BRCA2 gene that put them at higher risk for breast and ovarian cancer.
Five to ten percent of breast cancers occur in women with a genetic predisposition for the disease, usually due to mutations in either the BRCA1 or BRCA2 gene. The mutations at the center of this study are responsible for a substantial number of hereditary breast and ovarian cancers among women with Ashkenazi Jewish ancestry.
The study found that those who acquired the potentially life-saving information not only took appropriate actions on their own behalf, but also notified relatives who might share that risk. In what the study described as a “cascade effect,” these relatives were tested because they were related to someone who had one of the high risk mutations.
A number of relatives who were subsequently tested discovered they too had one of the high risk mutations.
The findings are important given that a frequent criticism of direct-to-consumer testing is based on the assumption that it causes either serious emotional distress or triggers deleterious actions on the part of consumers.
Individuals who learned they had the mutation said they did not suffer serious emotional distress, and did not take inappropriate actions.
The study authors suggested that broader screening of Ashkenazi Jewish women for these three BRCA mutations should be considered.”

Customer response to direct-access BRCA genetic testing

<img loading="lazy" decoding="async" class="alignright wp-image-16700 size-medium" title="23andMe-Brian-049" src="http://35.88.189.111/wp-content/uploads/2012/10/23andMe-Brian-049-210x300.jpeg" alt="" width="210" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/10/23andMe-Brian-049-210x300.jpeg 210w, https://blogcms.23andme.com/wp-content/uploads/2012/10/23andMe-Brian-049.jpeg 508w" sizes="auto, (max-width: 210px) 100vw, 210px" />
(Editor&#8217;s note: Here is a <a href="https://blog-api.23andme.com/wp-content/uploads/2012/11/Brian_Naughton_TruVar_ASHG2012poster.pptx-1.pdf" target="_blank" rel="noopener noreferrer">link</a> to Brian&#8217;s poster presented at ASHG.)
Rare events are hard to study, and this is especially true in genetics. Imagine you have a group of four people carrying a mutation and two of them are also afflicted with same medical condition.
<h6>Coincidence or correlation?</h6>
Well, this is a hard question to answer but it is exactly the sort of question that Brian Naughton, Founding Scientist at 23andMe, investigates with his current research.
Common genetic variants –  the sort of genetic variants reported in most of <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">23andMe disease risk reports</a> – only explain a small fraction of what scientists call disease <a href="https://blog.23andme.com/23andme-and-you/genetics-101/quiz-answers-heritability-demystified/" target="_blank" rel="noopener noreferrer">heritability</a>.  As genetic data becomes cheaper and more accessible, we are learning more about more rare mutations.  Researchers hope that these rare genetic factors will help explain the “missing heritability,” shedding light on why certain diseases run in families.
<h6>Meaning for Rare Variants</h6>
To assign meaning to these rare mutations, scientists have so far tried many approaches. One brute-force method is to scour the literature for any mention of a mutation and its biological implications.  This method, however, has its limitations.  Little to none may be recorded in the literature about extremely rare mutations. There are also reporting biases; for instance healthy individuals with rare mutations often don’t make it into the medical journals.  In addition, there are so many possible mutations that scouring the literature for each of them becomes intractable.
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Other scientists have turned to biochemistry to make predictions of a mutation’s impact.  Knowing how a specific genetic mutation – a DNA change – translates into changes in protein shape can go a long way towards predicting whether the changed protein will be functional or not.  However, prediction algorithms aren’t perfect and they are especially bad at predicting how relatively minor protein changes might have long term consequences.
<h6>A Different Approach</h6>
Rejecting these common approaches of addressing rare mutations, Brian has turned his attention to 23andMe’s large database, seizing on the power of large numbers.
With over 180,000 customers (many of whom have already filled out surveys about their medical history), 23andMe’s genetic database is the perfect playground for exploring the rare.  Brian can observe dozens of customers with very rare mutations that might not even occur once in a smaller database.
Brian has tested his new method on several mutations in the BRCA1 and BRCA2 genes.  Associations between breast cancer and certain mutations in these two genes have already been established (some of which are reported by 23andMe), and he aimed to replicate these associations using his new method in the 23andMe database. He will present his results for the first time to the scientific community next month at the <a href="http://www.ashg.org/" target="_blank" rel="noopener noreferrer">American Society of Human Genetics</a> (ASHG) conference in San Francisco, and he will not be alone.  Many other geneticists will also be addressing “missing heritability” and other genetic mysteries through the study of the rare and usual.  Understanding rare mutations is one of the next big frontiers of genetics, and 23andMe is proud to participate in the exploration of this new scientific territory.

Investigating the Rare

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BRCA1 and BRCA2 (BRCA1/2) mutations account for most (though not all) cases of inherited breast cancer in women. These mutations are also associated with an increased risk for ovarian cancer.
In men, BRCA1/2 mutations increase the risk for breast cancer and may also increase prostate cancer risk.
<h6>Other Risks</h6>
Research has indicated there may also be an increased risk of melanoma and pancreatic cancer in people with BRCA1/2 mutations.
Although BRCA1/2 mutations significantly increase the risk of cancer, having one of these mutations doesn’t mean a person actually has cancer or will necessarily ever get the disease. But new research from scientists at the National Cancer Institute and the National Human Genome Research Institute, published online this week in the journal <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0004812" target="_blank" rel="noopener noreferrer">PLoS ONE</a>, suggests that those BRCA1/2 carriers who do escape cancer may still be at risk of a shorter than average lifespan.
In a study of almost 5,300 people with Ashkenazi Jewish ancestry researchers found that, on average, both men and women who carry BRCA1/2 mutations die younger &#8212; even when cancer deaths are excluded from the analysis.
<h6>Males and Females</h6>
Among women free of melanoma, breast, ovarian and pancreatic cancer, BRCA1/2 mutation carriers died 5.8 years earlier (age 75.0 vs. 80.5) than those women without the mutations. In men, after excluding cases of melanoma, prostate and pancreatic cancer, BRCA1/2 mutation carriers died about 3.7 years earlier than those without the mutations (71.0 years old vs. 74.7).
“Theoretically, these mutations may either be associated with a small increase in risk of a variety of different diseases, or they may be associated with moderate increase in risk of a few major diseases,” the authors write.
They note that the current study is unable to make this distinction because it did not collect information on non-cancer related causes of death.
The researchers analyzed the effects of only the three BRCA mutations that are most common in Ashkenazi Jewish people: 185delAG in BRCA1, 5382insC in BRCA1, and 6174delT in BRCA2.   The mutations account for 80-90% of hereditary breast and ovarian cancer in this ethnic group.   But there are hundreds of other BRCA1/2 mutations that have been associated with cancer, and the authors caution that further studies taking these other BRCA1/2 mutations into account and using study subjects from diverse groups will be needed to confirm their results.
The authors conclude that understanding the effects of BRCA1/2 mutations on non-cancer related deaths could eventually help scientists understand how the mutations affect cancer risk and may even facilitate efforts aimed at finding new ways of preventing disease in BRCA1/2 mutation carriers.

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