October is<a href="http://www.who.int/cancer/events/breast_cancer_month/en/"> Breast Cancer Awareness Month</a>, a time to draw attention and support for the importance of early detection and treatment of this disease. As part of Breast Cancer Awareness Month, we are sharing a few of our customers’ stories about how they learned of their own genetic risk for breast and ovarian cancer.** 
<a href="https://www.youtube.com/watch?v=_miP-j9ElwE">Jill</a>, <a href="https://www.youtube.com/watch?v=LJ82eiR_ZcU">Hilary</a>, and <a href="https://www.youtube.com/watch?v=msBITuIygtw&#038;t=25s">Ann</a> ended up learning about a risk for which they were unaware.* To learn more about BRCA1 and BRCA2, and variants in those genes that carry a higher risk for certain cancers, please visit our website<a href="https://www.23andme.com/brca/"> here</a>.
<h5>Jill</h5>
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<h5>Hilary</h5>
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<h5>Ann</h5>
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 **This content is intended for U.S. and Canada audiences only.**
 
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks, including the 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants). Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. The test is not intended to diagnose any disease and does not describe a person&#8217;s overall risk of developing any type of cancer. It is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatments. Warnings &amp; Limitations: The 23andMe PGS Genetic Health RIsk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action.

23andMe Blog

23andMe Blog Team

Breast Cancer Awareness Month

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.
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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.”
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It was a shock for Ann Mellinger too. 
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Ann, a CEO, and mother in New York didn’t have information about her biological father’s family health history. 

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“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.”
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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. 
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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>

A Major Milestone in Consumer Health Empowerment

It’s been a perennial problem –biomedical research that largely leaves behind<img loading="lazy" decoding="async" class="alignright size-full wp-image-9756" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/diversityiStockBlog.jpg" alt="diversity(iStockBlog)" width="300" height="199" /> women and people with non-European ancestry.


A newly <a href="http://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1001918">published study</a> by researchers at the University of California San Francisco found that despite efforts to recruit in under represented communities in the United States there continues to be huge disparity in research among African Americans, Latinos and Asians. (In a separate but related issue there is also <a href="https://www.nature.com/news/racial-bias-continues-to-haunt-nih-grants-1.18807">a huge disparity</a> in research grants awarded to minority scientists.)


There are many reasons for the lack of diversity – historical, cultural, economic and social – but whatever the reason the dearth in research among non-European populations undercuts the effectiveness of the science and the effectiveness of certain treatments.


We know that a person’s gender and ancestry plays a role in their risks for certain conditions. For instance the risk for type-2 diabetes and prostate cancer is much <a href="http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0032840">higher in African American men</a>, but there is not yet enough research that includes African Americans in enough numbers to offer to fully understand why that is.
You can see similar problems in research around the risk for breast cancer in women of different ancestry. We know a lot about the risks among women of European ancestry because of research, but less about the risks among African American women.


In the hopes of improving our own research, 23andMe launched <a href="https://www.23andme.com/roots/">“Roots into the Future,”</a> specifically to recruit 10,000 African Americans interested in participating in research.
That effort has helped 23andMe improve the diversity of our own research cohorts. It has also improved the kind of results we can report back to customers.
23andMe has succeeded in attracting a diverse group of customers who want to participate in research, but we could do more.

Needed Diversity in Research

Two new studies done by researchers in France and the United States connect the dots between the number of moles women have and their risk for developing breast cancer.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/06/Mole-300x300.jpg" alt="Mole" class="alignright size-medium wp-image-21125" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/06/Mole-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2014/06/Mole-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2014/06/Mole-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2014/06/Mole-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2014/06/Mole-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2014/06/Mole.jpg 693w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Published last week in PLOS Medicine, the large studies, both found a connection. One study was done by researchers at <a href="http://www.plosmedicine.org/article/info:doi/10.1371/journal.pmed.1001660" target="_blank" rel="noopener noreferrer">France’s Université Paris Sud.</a>  The other was conducted by scientists at <a href="http://www.plosmedicine.org/article/info%3Adoi%2F10.1371%2Fjournal.pmed.1001659#abstract1" target="_blank" rel="noopener noreferrer">Brigham Women’s Hospital and Harvard Medical School</a> – 
<h6>The Two Studies</h6>
The French study – which used a cohort of about 89,000 women teachers studied over 18 years – found that premenopausal women with “many” moles were 34 percent more likely to develop breast cancer than those with none.
The US study – which includes a cohort of about 74,000 women nurses studied over 20 years – found that women with 15 or more moles were 35 percent more likely to develop breast cancer than those women without moles.
That corresponds to about an 8 percent risk of developing breast cancer for those women without moles and an 11 percent risk for those with 15 or more moles.
<h6>23andMe Researchers Take a Look</h6>
In another illustration of the power of 23andMe’s database our researchers were able to very quickly look at our own data to see if we could find the same association between the number of moles and risk for breast cancer. We did. As with the two recent studies, our data also showed that the more moles a woman had, the higher their risk for breast cancer.&#8221;
So why look at moles when studying breast cancer?
<h6>A Possible Connection with Moles</h6>
Moles are typically associated with the risk for <a href="https://blog.23andme.com/23andme-research/snpwatch/snpwatch-genetic-variant-contributing-to-melanoma-risk-has-different-effects-on-mole-count-depending-on-age/" target="_blank" rel="noopener noreferrer">skin cancer</a>, but researchers decided to look at their possible connection to breast cancer because the production of moles is associated with higher levels of estrogen and progesterone.
Those two hormones may also be associated with the development of breast cancer. Several studies have found a hormonal influence on whether women develop breast cancer. And, as the editors of the study noted, women who don’t have children or have the late in life, are at “a higher breast cancer risk than women who have several children when they are young because pregnancy alters sex hormone levels.”
So researchers thought that the number of moles may help be a predictor for breast cancer risk. The data seem to indicate that is true.
Both studies are illustrative of the power of being able to look at seemingly unrelated traits to learn more about the underlying biology of disease.

New Studies On Breast Cancer Risk

<img loading="lazy" decoding="async" class="aligncenter wp-image-18480 size-full" src="http://35.88.189.111/wp-content/uploads/2013/06/AA-Menarche--scaled.jpg" alt="" width="2560" height="1978" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/06/AA-Menarche--scaled.jpg 2560w, https://blogcms.23andme.com/wp-content/uploads/2013/06/AA-Menarche--300x232.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2013/06/AA-Menarche--768x593.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2013/06/AA-Menarche--1024x791.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2013/06/AA-Menarche--880x680.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2013/06/AA-Menarche--1180x912.jpg 1180w" sizes="auto, (max-width: 2560px) 100vw, 2560px" />By Anne Pinckard
The high rates of <a href="https://blog.23andme.com/ancestry/african-ancestry-and-risk-for-type-2-diabetes/">type 2 diabetes</a> in some minority communities as well as the rates for <a href="https://blog.23andme.com/23andme-research/ethnicity-matters-in-research-a-case-study-in-prostate-cancer/">prostate cancer</a> among African American men are a good illustration of how a person’s risk for a disease can depend on ancestry.
The problem is scientists haven’t done enough research in minority communities to be able to learn just how much of a role ancestry plays in the development of those and other diseases. While some of the differences in risk may be due to environment and lifestyle, it’s a good bet that genetics also plays a role.
A recent study highlights why it’s so important to conduct ancestry-specific research, and why research findings are difficult to apply across different ethnicities. In this case, scientists were investigating the genetic influences of breast cancer in African-American women.
Most of the genetic factors linked to breast cancer were discovered among women of European and Asian ancestry. But African American women not only have higher rates of breast cancer, but they are 40 percent more likely to die from the disease than women of European ancestry. African-American women also tend to be diagnosed at a younger age and are more likely to experience the more aggressive types of the disease. While there may be many factors involved in these differences, including access to early screening and quality care, understanding the role genetics may play in these differences is also important.
The study, titled <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0058350">“Evaluating Genome-Wide Association Study-Identified Breast Cancer Risk Variants in African-American Women” </a>  and published by the peer-reviewed journal <a href="http://www.plosone.org/">PLOS One</a>, claims to be the first to examine all the known breast cancer genetic markers in African-American women. The international team of scientists looked at 67 genetic variants associated with breast cancer in women of Asian and European ancestry. This is the first study to investigate how relevant these variants are in African-American women, say the researchers. To find out, they tested the DNA of about 1200 African-American women diagnosed with breast cancer and 2,000 African-American women who served as a control group.
What researchers found was that only about 10 percent of the genetic markers associated with breast cancer in women of Asian and European ancestry were found to have significant associations with breast cancer in African American women. In that group of genetic markers associated with breast cancer among African American women, researchers found one that is linked to one of the more aggressive types of breast cancer – known as estrogen receptor (ER)-negative breast cancer. This type of breast cancer is also much more prevalent among African American women.
The findings also mean, of course, that 90 percent of the markers associated with breast cancer in European-and Asian-American women aren’t necessarily linked to the disease in African-American women. This conclusion is consistent with results from previous studies.
But the new study underscores the complexity of applying previous research to a specific population, and the need for more large-scale studies on African-American women.

More Diversity Needed in Genetic Research

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

Top Genetic Findings of 2012

As far as disease names go, cancer appears to be pretty simple. Breast cancer is a cancer of the breast, and prostate cancer is a cancer of the prostate.
Although this naming system describes where cancer starts out, it doesn’t tell us much about where cancer will spread, which drugs (if any) will work, if the patient will have a bad reaction to therapy, or whether the patient is likely to survive cancer.
<h2>Going Deeper</h2>
To understand these questions, we need to drill deeper and analyze the molecular barcode of both the cancer and the host.
Understanding the molecular profile of a cancer cell can help physicians understand which drugs will be effective in treating the cancer.
The underlying code for what the cancer “shows” to the rest of the body and how it will behave in the body depends on the DNA inside the cancer cells. And what’s becoming evident is that cancer is much more complicated than we used to think.
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Changes in DNA Underlie Cancer 
Cancer develops when normal cells in the body grow and reproduce uncontrollably because of “mistakes” in the DNA code. DNA (a copy of which is contained in each cell) contains finely tuned instructions for cell growth and production, but as cells copy and pass on this DNA they sometimes make mistakes. These mistakes are technically called “mutations” and cause the DNA to be slightly different from the original.
<img loading="lazy" decoding="async" class="alignright wp-image-14832 size-medium" title="Somatic mutation" src="http://35.88.189.111/wp-content/uploads/2012/08/Somatic-mutation-300x149.png" alt="" width="300" height="149" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/08/Somatic-mutation-300x149.png 300w, https://blogcms.23andme.com/wp-content/uploads/2012/08/Somatic-mutation-768x381.png 768w, https://blogcms.23andme.com/wp-content/uploads/2012/08/Somatic-mutation.png 807w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The mutations that make cells grow too much and thereby cause cancer arise in the course of a person’s lifetime (as opposed to being a change in the DNA that the person is born with) and are called “somatic” mutations.
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<h2>Subtypes</h2>
Under each cancer umbrella, there are actually many different rare diseases. Take breast cancer as an example. By most accounts there are four<a href="http://ww5.komen.org/BreastCancer/SubtypesofBreastCancer.html"> established subtypes</a>, defined based on how the cancer “looks”, both as you would view it under a microscope and on the molecular level.
For instance, a “HER2+” cancer displays the “Human Epidermal Growth Factor Receptor 2” (HER2) molecule on its surface but doesn’t display the estrogen receptor (ER) or progesterone receptor (PR), molecules that catch certain hormones as they pass by.
Cancers overexpressing HER2 can be treated with specific drugs targeting the HER2 molecule. But if breast cancer is triple negative, meaning it doesn’t display any of these three receptors (HER, ER, or PR), then drugs that target these molecules won’t be effective against the cancer.
<h2>Genetics Informed Clinical Trials</h2>
The DNA that someone is born with differs in various places from person to person (so-called “germline” variation) and can also impact the course of treatment.
Most clinical trials performed today do not incorporate genetic testing into the trial&#8217;s design. When they discover that some trial participants react poorly while others are super responders, they look to data points such as age, other diseases the patient is suffering from, or medications he or she is taking. But the explanation may lie deep down in the DNA &#8212; subtle differences in the barcode might be enough for some trial participants to develop an adverse reaction while other people taking the drug derive benefit without harm.
Scientists are now learning more about different cancers by characterizing the mutations driving the tumor and a person&#8217;s unique variants that he or she was born with. The course of cancer depends on both the signature of the tumor, something that stems from you but takes on its own life, and you – the host – a necessary participant in the fight against cancer.

breast cancer — Page 2