Large scale genetic and non-genetic data plus machine learning, used to provide personalized portraits of how genes and lifestyle impact weight<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25105" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-report-300x297.jpg" alt="" width="300" height="297" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-report-300x297.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-report-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-report-768x760.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-report-1024x1013.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-report-880x871.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-report.jpg 1154w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Have you ever wondered if it&#8217;s your genes keeping you from fitting into your jeans?
<h6> Not Just Genes</h6>
You&#8217;re not alone, and plenty of research shows that the genetic cards we are dealt at birth play an important role not just in our weight but in how much our bodies respond to diet and exercise. Our weight is determined by a complex combination of lifestyle, environment, and genes. 
 Armed with a collection of data from over 600,000 research participants, 23andMe scientists used machine learning techniques to estimate BMI based on genetics. Key results from these analyses also showed that lifestyle factors such as diet and exercise may affect weight. That affect is also dependent on a person’s genetic makeup.
<h6> What is the Genetic Weight Report</h6>
This research resulted in a new, first-of-its kind Genetic Weight report. It incorporates both genetics and lifestyle and calculates a person’s  genetic predisposition to weigh more or less than average. The report also provides insight into which lifestyle factors might make the biggest difference for a person’s own weight. 
 This report breaks new ground because it&#8217;s the first time that 23andMe scientists have been able to leverage our internal research data. This is an immense amount of information generously contributed by research participants for a health-related report. It is based on over 300 variants found to be associated with weight in 23andMe&#8217;s own database. It also customizes results based on age, sex, and ancestry.
<h6> Gene-by-Environment</h6>
23andMe scientists have also incorporated important in-house findings about lifestyle and genetics. These so-called &#8220;gene-by-environment interactions&#8221; are based on data contributed by over 45,000 research participants. 
 Each personalized report provides a ranked list of lifestyle factors found to be associated with the biggest weight differences. This is based on each person&#8217;s genetic result. In other words, this information shows how people&#8217;s specific genetics may influence their own responses to not only exercise and certain food choices, but also to factors like sleep and stress. This could help customers prioritize their own choices for maintaining a healthy weight. 
 The Genetic Weight report marks a first step towards the kind of personally tailored <a href="https://www.23andme.com/dna-health-ancestry">wellness reports.</a>  Future reports will build on the insights found through creating a machine-learning model. These type of AI models leverages the massive amount of data from customers who consent to participate in research. 
 For more on the science behind this report see our <a href="https://permalinks.23andme.com/pdf/23_17-GeneticWeight_Feb2017.pdf">white paper</a>. 
 <img loading="lazy" decoding="async" class="alignright size-large wp-image-25104" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-2-625x1024.jpg" alt="" width="625" height="1024" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-2-625x1024.jpg 625w, https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-2-183x300.jpg 183w, https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-2-537x880.jpg 537w, https://blogcms.23andme.com/wp-content/uploads/2017/03/Genetic-Weight-2.jpg 708w" sizes="auto, (max-width: 625px) 100vw, 625px" />

23andMe Blog

23andMe Blog Team

23andMe Releases First-of-its Kind Genetic Weight Report

A warm glass of milk and the right genes may be the secret to a <img loading="lazy" decoding="async" class="alignright wp-image-17852 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2013/04/Empty-Bed-284x300.jpg" alt="Empty Bed" width="284" height="300" />settled <a href="https://www.23andme.com/topics/wellness/deep-sleep">deep sleep</a>, and better health.


Your genetics are among many factors — like your age, diet and environment —  that influence your ability to get a good night’s rest. And, in turn, shut eye plays an important role in your health.


The amount of sleep you get is associated with a whole assortment of other characteristics such as life satisfaction, BMI and even <a href="https://www.ncbi.nlm.nih.gov/pubmed/23144701">telomere length</a>.  Telomeres are DNA segments at the end of our chromosomes — some have compared them to the ends of a shoe lace. As our telomeres shorten, it hampers the ability of our cells to replicate and repair themselves.
The book, Telomere Effect — by the Nobel Prize winner  Elizabeth Blackburn, who discovered  telomerase and the role telomeres have in the aging process  — looks at habits and lifestyle that impact telomere length.

The average American gets just under seven hours of sleep, and in general when we don’t get enough — less than seven hours — it’s not just our health that suffers. Lack of sleep is associated with higher blood pressure, as well as increased risks for diabetes and depression.
23andMe has two reports that explore how your genetics may be influencing your ability to drift off into deep sleep, and how likely you are to move about while you slumber.


Sleep is actually broken into a number of stages or cycles, many of us have heard about REM sleep the sleep cycle characterized by rapid eye movement when our most vivid dreams occur.
Less well known is the Deep Sleep stage just before REM sleep, also sometimes referred to as “slow-wave sleep” or “Delta Sleep.”
This stage is considered the deepest part of the sleep cycle and is characterized by a pattern of brain activity called delta waves. The strength of delta waves reflects how deeply a person sleeps — oddly scientists use the term “sleep intensity” when talking about deep sleep. Several studies have found that a genetic variant on the ADA gene, which produces the enzyme adenosine, influences how deeply people sleep.
Throughout the sleep stages many of us move involuntary. Known as periodic limb movement, on average a person might have 10 of these an hour. <a href="https://www.23andme.com/topics/wellness/sleep-movement/">23andMe’s Sleep Movement</a> report looks at how your genetics may influence whether you move more or less than average during sleep. The report is based on several studies that point to variants in the BTBD9 gene on chromosome 6, which creates the protein BTB.
While not much is known about this protein, it appears to influence not just sleep and movement but also our sense of touch and how we metabolize iron.
Whether you’re a light sleeper, a deep sleeper or a restless sleeper, getting enough rest is important for your health.

Sleepy Time

Women today often make decisions about their fertility largely based on age, but <img loading="lazy" decoding="async" class="alignright size-medium wp-image-25068" src="https://blog-api.23andme.com/wp-content/uploads/2017/02/02082017_Fertility-ig_ad_1-300x300.jpg" alt="02082017_Fertility-ig_ad_1" width="300" height="300" />research has shown that environment, lifestyle, and genomics can also impact a woman’s ability to conceive.


A new <a href="https://www.23andme.com/fertility/">Fertility Research Community</a> launched by the next-generation women’s health company Celmatix, and 23andMe, will use genetic and other data to uncover more on what impacts a woman’s ability to conceive.


“This ambitious initiative will bring us closer to enabling any woman, who may want to have a child one day, to better understand how decisions about lifestyle, diet, and when to start building a family may impact her ability to have as many children as she wants given her underlying genetics,” said Celmatix founder and CEO, Dr. Piraye Yurttas Beim.

As any mother can attest, every pregnancy is different. Some women conceive right away, but for many others it isn’t so simple. According to the Centers for Disease Control and Prevention, one in eight women trying to conceive will have trouble getting pregnant, and currently, doctors have limited tools to help.


The aim of the Fertility Research Community is to uncover findings that can help both women trying to conceive and their doctors. This research community will enlist participation from 4,500 women between the ages of 18-and-45 who have recently had a baby, who are pregnant, or are trying to conceive. Then, over an 18-month period, scientists will look not just at genetic data from those participants, but also track clinical information, environmental data, details about diet, and lifestyle choices. Feeding that data into their research model, the scientists will also look at outcomes, tracking the success or failure of women trying to conceive.


It’s a study that leverages strengths from both companies — <a href="https://celmatix.com/">Celmatix</a>, empowering women with data and genomic insights to make proactive decisions around their fertility; And 23andMe, which pioneered the kind of big-data genetic research that enlists and engages people to participate. In this case, both companies are reaching out to mothers and would-be mothers to become involved, and pointing out that their participation now could help other women who want to start a family in the future.


“Many women experience fertility challenges, which can be devastating,” said Emily Drabant Conley, PhD, vice president of business development for 23andMe.  “We believe this study has the potential to impact their lives and help them in their journey. And what we learn could also help other women, early on, as they to plan to start families of their own. What we discover by leveraging this data could help inform all women managing their fertility potential.”


To learn more details about our fertility study, go to our <a href="https://www.23andme.com/fertility/">study information page</a>.

Fertility Study Launches

In what researchers believe is the largest genome-wide association study ever done on the shared genetics of allergy and autoimmune diseases, scientists have identified genetic variants that <img loading="lazy" decoding="async" class="alignright wp-image-23374 size-medium" src="http://35.88.189.111/wp-content/uploads/2015/12/Research-Icon-285x300.jpeg" alt="" width="285" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/12/Research-Icon-285x300.jpeg 285w, https://blogcms.23andme.com/wp-content/uploads/2015/12/Research-Icon.jpeg 673w" sizes="auto, (max-width: 285px) 100vw, 285px" />influence risk for both conditions.
“To our knowledge, no previous study has had sufficient statistical power to systematically explore commonalities in the genetic architecture between allergy and autoimmunity,” wrote the study’s lead authors Hans Bisgaard and Klaus Bonnelykke, of the University of Copenhagen and the Copenhagen University Hospital.
<h6>Genetic Variants Identified</h6>
In total scientists from more than two dozen institutions, including 23andMe, participated in this research.
The findings, published in the <a href="https://www.sciencedirect.com/science/article/pii/S0091674917302075">Journal of Allergy and Clinical Immunology</a>, come at a time when scientists are trying to explain a surge in the prevalence of both allergy and autoimmune diseases in recent decades.
The study identified 29 genetic variants associated with both allergy (to cats, dust-mites, and or pollen, or an allergic sensitization) and one of 16 different autoimmune diseases such as Crohn’s disease, multiple sclerosis and inflammatory bowel disease. In addition to finding genetic associations between these conditions, the findings may help untangle the complex relationship between allergy and autoimmunity.
<h6>Shared Biological Pathways</h6>
The study also allowed researchers to more clearly see the shared biological pathways and genetic mechanisms for allergies and autoimmune diseases. For example, many of the shared genetic variants are in or near genes associated with the immune response, regulation of T cells — the white blood cells that are essential for immunity — and regulation of cellular function.
“Our study thereby provides further understanding of the complex genetic relationship between allergy and autoimmune diseases,” authors said.
The researchers also found that while a little under half of the genetic factors increased the risk for both allergies and autoimmune disease, the remainder of the variants had opposing effects on the two conditions — raising the risk in one, while decreasing the risk in the other. The latter finding may be helpful in predicting how treating the causes of certain conditions could increase the risk of others.
<h6>Very Large Dataset</h6>
The researchers used aggregated non-identifying data from several different studies in a meta-analysis that in total had data from 62,330 people, including more than 40,000 customers from 23andMe who consented to participate in research. This very large dataset allowed researchers to efficiently see if associations for 290 genetic loci previously identified to influence the risk for more than a dozen autoimmune diseases also influence allergy risk.
According to the researchers, looking at the common genetic architecture of these conditions may also help shed more light on the environmental influences that may be contributing to the increase in the prevalence of allergies and autoimmune disease in recent times. Separate research has shown how these conditions share some of the same environmental risk factors; so, for instance, a child born through Caesarian section is at a higher risk for both allergies and autoimmune diseases. This may have to do with a change in the exposure a newborn has to microbes, which might in turn change their immune response.
<h6>Theories</h6>
There are <a href="https://www.forbes.com/sites/quora/2017/01/30/are-allergies-a-sign-of-a-weak-immune-system/#7a959e2638a3">several different theories</a> about why this may happen.
For example some research has looked at the <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1448690/">“hygiene hypothesis,”</a> which posits that the cleanliness of modern society is compromising our microbiome and the good bacteria that live in and on our bodies, and in turn harming our bodies’ immune response.
This is also not the first time 23andMe has been involved in new allergy research. A study done by 23andMe 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 — was the largest genome-wide association study at the time conducted on common allergies and found <a href="https://blog.23andme.com/23andme-research/new-genetic-associations-found-for-allergies-and-asthma/">new genetic associations for asthma and allergies</a>.
The findings in this latest study, made possible in part by 23andMe customers who consented to research, offer new insight into the shared biology of autoimmune disease and allergies, and in turn give scientists an opportunity to focus on the role of the immune response, T cell regulation, and cell function in these interrelated conditions.

New Research on the Shared Genetics of Autoimmune Disease and Allergies

New research by scientists at<a href="https://med.stanford.edu/"> Stanford University School of Medicine</a> and 23andMe sheds more light on the genetics of melanoma, the deadliest form of skin cancer.<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-6638" src="https://blog-api.23andme.com/wp-content/uploads/2010/06/freckles_moles-200x200.jpg" alt="freckles_moles" width="200" height="200" />


Published today in the journal <a href="http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&#038;page=article&#038;op=view&#038;path%5b%5d=15230">Oncotarget</a>, this genome wide association study quickly replicated 21 genetic variants associated with melanoma that were identified from seven other studies. In addition to replicating those variants, the study found one novel variant near a gene region known as BASP1 which could be protective against melanoma. The researchers found that in individuals with this form of cancer, the expression of BASP1 was suppressed, conferring an almost two-fold increased risk.


“This implicates a potential tumor-suppressive role for BASP1 in melanoma,” the researchers said.
Taken together the findings confirm an association between melanoma and genes involved with pigmentation, tumor suppression, the maintenance of telomere length, the formation of moles, as well as DNA repair.
Skin cancer is the most common form of cancer. There are three main types — basal cell carcinoma, squamous cell carcinoma, and melanoma. Basal cell carcinoma is the most common of the three and affects more than<a href="http://www.skincancer.org/skin-cancer-information/basal-cell-carcinoma"> four million people</a> annually in the United States. It is rarely life threatening. Squamous cell carcinoma affects more than<a href="http://www.skincancer.org/skin-cancer-information/squamous-cell-carcinoma"> one million people</a>.  While melanoma is the rarest of the three — accounting for only about one percent of all skin cancers — it leads to the majority of skin cancer deaths each year.
This research on melanoma follows fast on the heels of two other skin cancer studies completed last year by the same group of scientists,  one of which was the largest–to-date on the most common form of skin cancer, basal cell carcinoma. All of these studies used data contributed by 23andMe customers who consented to participate in research.
In<a href="https://www.nature.com/articles/ncomms12510"> that study</a> researchers identified 31 genetic variants associated with that form of skin cancer. Fourteen of those variants were new associations.
The scientists also conducted<a href="https://www.nature.com/articles/ncomms12048"> a study</a> that looked at cutaneous squamous cell cancer, which was one of the first genome-wide association studies ever done on that form of skin cancer. They found 11 genetic variants associated with cutaneous squamous cell cancer — four of those have never been seen before.
In each of these studies the researchers used a similar two-stage process, one for discovery and the other to confirm the findings. The scientists first conducted a large genome-wide association study using data from 23andMe customers who consented to participate in research. This included both individuals who reported having the type of cancer being studied, as well as others without the condition who were used as controls. In the second state, a confirmatory genome-wide association study was performed using data from another source.
In the case of the study on <a href="http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&#038;page=article&#038;op=view&#038;path%5b%5d=15230">melanoma</a>, the researchers used more than 290,000 23andMe customers who consented to research. More than 4,800 of those reported that they’d been diagnosed with melanoma. In the second stage of the study, the confirmatory stage, the researchers used data from a group of more than 2,000 patients involved in a study done by MD Anderson Cancer Center, more than half had melanoma.
Beyond the findings from this study on melanoma, the researchers singled out the power of 23andMe’s research model.
“This two-stage (genome wide association study) validates the use of consumer self-reported data as a platform for discovery of new cancer-related genes,” the researchers said.


The paper appears in the journal <a href="http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&#038;page=article&#038;op=view&#038;path%5b%5d=15230">Oncotarget</a>.

New genetic variant found to influence skin cancer risk

It’s probably worth starting Chris and Colleen’s Valentine’s Day story with a disclaimer — your results may differ.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25256" src="https://blog-api.23andme.com/wp-content/uploads/2017/02/Nerds-Image-300x225.jpg" alt="" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/02/Nerds-Image-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/02/Nerds-Image.jpg 480w" sizes="auto, (max-width: 300px) 100vw, 300px" />


Chris started dating Colleen a few years back. On their first date Chris, an MD and PhD who worked at a lab at Seattle’s Saint Louis Children’s Hospital, brought up his 23andMe results. He mentioned his inability to smell asparagus in his urine and his higher than normal amount of Neanderthal DNA. 
“The fact that this did not immediately scare her off was a good sign,” he said.


Colleen, who also worked at the hospital, thought it was a little strange but she went with it.
A few months later, as Valentine’s Day neared, Chris wanting to break out of the typical chocolate and roses routine, got Colleen a 23andMe kit.
&#8220;I even included a card saying how this was a gift of knowledge of her past, present and future,” he said.
Thinking it was “terribly romantic.”
Colleen thought:
“This is the oddest thing I’ve ever gotten. I’m dating a total nerd &#8230; and I&#8217;m OK with that.”


The two are now happily married, living in Seattle, and have a baby girl.
She&#8217;s not old enough to do her her own 23andMe test, at least not yet, Chris said.
Check out their story:
<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/96BwMXKbatc" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

Love Test

The future of health care revolves around data, and lots of it.<img loading="lazy" decoding="async" class="alignright wp-image-25257 size-full" src="https://blog-api.23andme.com/wp-content/uploads/2017/02/mike-snyder_web300.jpeg" alt="" width="300" height="401" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/02/mike-snyder_web300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/02/mike-snyder_web300-224x300.jpeg 224w" sizes="auto, (max-width: 300px) 100vw, 300px" />


Perhaps no one knows more about the potential of “Big Data” to revolutionize medical treatment than<a href="https://med.stanford.edu/profiles/michael-snyder"> Michael Snyder</a>, the director of Stanford’s Center of Genomics and Personalized Medicine. Snyder plans to share some of his wisdom during a webinar on February 28th hosted by 23andMe titled “Big Data and Human Health.”


Using himself as a test case, Snyder has brought his own personal experience to finding the right data and integrating it properly into clinical practice. He helped create something called the integrative personal genomics profile,<a href="http://snyderome.stanford.edu/"> known as iPOP</a>, which generated billions of data points about him that he used to help diagnose his own risk for type 2 diabetes. But finding a clinical approach to effectively using this data is a challenge.


Snyder, who also recently completed the book Genomic &amp; Personalized Medicine: What Everyone Needs to Know (see sidebar), is both practical and hopeful for the potential of big data to transform medicine.
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
Genomics &amp; Personalized Medicine
Similar to how efficiently information is packed into your DNA, Michael Snyder has packed an enormous amount of information into his short book “Genomics &amp; Personalized Medicine.”
Meant to be a quick guide that broadly covers the basics, Snyder has created a very easy to understand overview that boils down complex science and complicated issues in an easy to read book.
Using a question and answer format that’s easy to navigate the book is broken down into 22 chapters with each chapter condensing explanations of DNA basics to cancer genetics to ethics and data security. The answers on these topics are clear and concise, boiling down into a few pages or even a few paragraphs what are sometimes very complicated issues.
This make for a book that could be used as a very effective quick reference guide for both the layperson or medical professional. The book also works well for those interested in getting started on learning the basics on genetics and personalized medicine.
Give it a read.
</div>
“Big Data information can be used to manage one’s health prior to the onset of disease,” he writes in his book. “This has the potential to shift medicine from a reactive practice of treating symptoms and diseases, to one where disease risk is predicted and managed prior to onset, or is at least diagnosed early.”


During the webinar, “Big Data and Human Health,” Snyder will cover some of the kinds of useful data that can now be collected on a person — from biosensors, to genetic data to data from electronic health records — and how best to use this information can be integrated into managing a person’s health.


To register or to find out more about the webinar go here. 
Register now to receive a copy of Dr. Snyder’s book, Genomics &amp; Personalized Medicine: What Everyone Needs to Know.  The first 100 healthcare professionals/clinicians to register will receive a copy.* The webinar is intended for clinicians and other healthcare professionals, but it is open to educators, researchers, students and lifelong learners.

<div style="float: center; text-align: justified; width: 640px; background-color: ##effae7; padding: 15px; margin-left: 10px;">*The first 100 health care professionals who register for the webinar will be eligible to receive a book. Books will be distributed via US mail following the live event. Limit one (1) book per registrant. By providing your email address upon registration and electing to receive a book, you grant 23andMe, Inc. the right to contact you to obtain your US ship-to address for the book. You may opt out of receiving the book at any time before it is shipped by sending an email to this address: medical@23andme.com. or if you fail to provide a ship-to address within thirty (30) days following 23andMe&#8217;s delivery of the email. Entries generated by a script, macro or other automated means will be disqualified. Registrants may submit one (1) entry per person – multiple entries will not be accepted and only the first entry submitted will be eligible. Anyone found using multiple accounts to submit the same entry will automatically be disqualified. This offer is valid exclusively for webinar registrants who are health care professionals with a valid US license and are based in the United States.</div>

Big Data and Human Health

February is Black History Month offering us another opportunity to talk about diversity in genetic research and why it’s important for all of us.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25259" src="https://blog-api.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-300x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-1024x1024.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2017/01/05242016_ig_ad_3.jpg 1080w" sizes="auto, (max-width: 300px) 100vw, 300px" />
23andMe’s mission has always been to help people access, understand, and benefit from the human genome. Everyone should gain from the scientific insights we learn through research. That means people of all ethnicities. But that hasn’t happened because research — not just 23andMe research — but all biomedical and genetic research has been hampered by a lack of diversity.


A recently article published in the journal <a href="https://www.nature.com/news/genomics-is-failing-on-diversity-1.20759">Nature</a> found that less than three percent of the genome wide association studies published involve people of African Ancestry. And it’s not just African Americans who are being left out. More than 80 percent of biomedical research is focused on people of European ancestry.
There are very real repercussions when research is limited to just one group.
For example, a lack of diversity in research could lead to misdiagnosis. A <a href="https://www.wsj.com/articles/study-warns-of-misdiagnosis-in-genetic-testing-1471453590">recent study</a> by researchers at Harvard looked specifically at how a gene mutation was misclassified among African American patients indicating that they were at risk for a serious heart condition called hypertrophic cardiomyopathy when in fact they were not. Basically the researchers found that the variants or mutations that caused a heightened risk in patients of European ancestry were not risky for those of African or other non-European ancestry.
By studying Europeans alone, we blind ourselves to discoveries that could be found in other populations that frankly could help all people.
So what can we do about it?
A lot, it turns out.
23andMe recognized early on that we needed to do more. In 2011 early in our company’s history, we launched something called the <a href="https://blog.23andme.com/news/announcements/roots-into-the-future/">“Roots Into the Future Project,”</a> enrolling  10,000 African Americans in a study meant to bring better understanding of the connection between DNA and diseases most relevant to African Americans. We have since added another 10,000 to the study. And we’ve steadily added additional efforts to improve diversity.
In November 2013 we kicked off our African Ancestry Project, which recruited people with four grandparents from Sub-Saharan Africa to improve our knowledge of African genetic diversity. Late last year we launched an even more ambitious initiative called the <a href="https://www.23andme.com/africa-project/">African Genetics Project</a>, that enrolls individuals from 16 different African countries. The purpose is not just to help people with African ancestry uncover their African roots, but it could also help yield new insights into the TransAtlantic slave trade.
We know that the Africans enslaved in the Americas were not a monolithic group but individuals from different cultures with different languages who were forced together into slavery. We hope this study will help our researchers identify direct connections between locations in Africa and the Americas.
This isn’t the first time that we’ve looked at our data to gain insights that go beyond just health research. A little over two years ago our researchers published the first <a href="https://blog.23andme.com/23andme-research/dna-usa-2/">genetic portrait of the United States</a>, illustrating the complex mix of African, Native American, Latino and European ancestry across the country and giving new insight into our social and political history.
Beyond that work, we’re also looking at how to leverage data we already have.
In early 2016, 23andMe received an NIH grant to improve how we study disease in African American and Latino populations. Both of these populations are “admixed,” meaning they have a mix of African, European and Native ancestry. By using something called mapping by admixture linkage disequilibrium, or admixed mapping, we believe we can identify disease causing genetic variants for conditions that are more prevalent among African Americans, such as high blood pressure, Type 2 diabetes and Asthma.


Then late in 2016, 23andMe launched the African Sequencing Project, which also received funding from the NIH. This effort will help 23andMe create a new reference panel for African Americans that we could share with the broader scientific community. This would make it easier for all researchers to do important health research in the African American community.
Find out more about our efforts <a href="https://www.23andme.com/roots/#commitment">here</a>.

Black History Month Draws Attention to The Need for Diversity in Genetic Research

In the article <a href="https://www.nytimes.com/2017/01/11/magazine/neanderthals-were-people-too.html?_r=0">Neanderthals Were People Too</a>, Jon Mooallem describes an electric moment where he felt a visceral connection to our long lost human cousins.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25260" src="https://blog-api.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-212x300.jpg" alt="" width="212" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-212x300.jpg 212w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-768x1084.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-725x1024.jpg 725w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-623x880.jpg 623w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-836x1180.jpg 836w, https://blogcms.23andme.com/wp-content/uploads/2017/01/EGrhX_Flint-Nana-Kennis-Kennis-reconstructions-of-the-Gibraltar-12-skulls-Photo-S.Finlayson-scaled.jpg 1813w" sizes="auto, (max-width: 212px) 100vw, 212px" />
Watching a group of archeologist painstakingly excavate a small hearth in a cave in Gibraltar, Mooallen is suddenly struck by what he’s seeing. The bits of charcoal, the fire stained ground where embers are scattered and the smoke stained walls where the cinders from the fire had pushed up against the rock wall.


“Suddenly, it struck me — though it should have earlier — that what we were looking at were the remnants of a single event: a specific fire, on a specific night, made by specific Neanderthals. Maybe this won’t sound that profound, but it snapped that prehistoric abstraction into focus. This wasn’t just a “hearth,” I realized; it was a campfire.”


<h6>The Connection</h6>

He was looking at the remains of a fire that warmed these human cousins of ours on a night 50,000 years ago, and he felt connected.
Whether we feel it or not, most humans living today are connected to Neanderthals.
All non-Africans have between one and three percent Neanderthal DNA, a remnant of interbreeding as modern humans migrated out of Africa and met Neanderthals for the first time. And we likely carry remnants of other hominids in our DNA, such as the Denisovans.
Perhaps it’s that genetic connection that fuels our fascination with Neanderthal, or maybe it’s that what we learn is informing us all more about what it means to be human.
We know that we owe much to the Neanderthals. It’s likely that interbreeding with Neanderthals helped give humans an evolutionary advantage to adapt — beneficial immune response and blood clotting for instance — but it also left us with a subtle risk for certain diseases, according to <a href="http://www.sciencemag.org/news/2016/02/our-hidden-neandertal-dna-may-increase-risk-allergies-depression">research published early last year</a>.

<h6>The Neanderthal Advantage</h6>

Vanderbilt University&#8217;s John Anthony Capra, was the lead author of that study, which we previously wrote about in the <a href="https://blog.23andme.com/news/the-lasting-legacy-of-neanderthals/">blog</a>. Capra recently spoke with <a href="https://www.nytimes.com/2017/01/20/science/john-anthony-capra-neanderthals-dna-humans.html">The New York Times</a> about that research.
Over time humans <a href="https://blog.23andme.com/23andme-research/new-neanderthal-research/">purged</a> all but the last vestiges of Neanderthal DNA — but some of what remains, even some of what previously could have been beneficial, is deleterious, according to Capra.


“What we’ve been finding is that Neanderthal DNA has a subtle influence on risk for disease,” Capra said.


For the research, Capra and his team looked at electronic health records from 50,000 individuals and found associations with Neanderthal DNA and immune response, blood clotting, and depression.
These findings and others indicate that Neanderthals were much more like us than we previously thought.


“We tend to think of them as dumb and brutish,” Capra said. “There’s no reason to believe that. Maybe those of us of European heritage should be thinking, “Let’s improve their standing in the popular imagination. They’re our ancestors, too.’”

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