A recent article in Quartz with the headline “<img loading="lazy" decoding="async" class="alignright size-medium wp-image-6586" src="https://blog-api.23andme.org/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="23andMe_Logo_blog" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />in genetics research, and biomedical research in general. 
It’s also an opportunity to address mischaracterizations of our science within the article, and motivations ascribed to our research that are just plain wrong.  We’ve raised these issues with Quartz and feel strongly enough to share our thoughts more publicly to hopefully steer the discussion in an informative and worthwhile direction, since it is a conversation that should be had by the broader scientific community. 


Genetics research has a diversity problem. This is widely recognized, but when you see the data it’s staggering. For example, a <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708540/#R2">2011 article</a> cited data showing that only 4 percent (!) of all genome-wide association studies had been conducted using samples of non-European descent.
<h6>The Implications</h6>
There are very real repercussions when research is limited to just one group. The seriousness of this situation was <a href="https://www.nytimes.com/2016/08/18/science/genetic-tests-for-a-heart-disorder-mistakenly-find-blacks-at-risk.html?_r=0">demonstrated in a recent study</a> showing that due to biased research, African Americans are more likely than whites to mistakenly be told that they carry a mutation putting them at risk for the heart condition known as hypertrophic cardiomyopathy, when in fact they do not.
This type of mistake has serious emotional and medical implications.
The lack of diversity in genetics research is reflective of the general lack of diversity in all aspects of health research. There are lots of reasons – historical, cultural, political. For good overviews we suggest reading this piece from <a href="http://www.newsweek.com/2015/10/30/racial-discrimination-modern-medicine-384961.html">Newsweek</a> and this article from <a href="http://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1001918">Oh, et al.</a> These authors eloquently and forcefully explain the situation.


What does this have to do with 23andMe?

<h6>23andMe&#8217;s Reference Data</h6>

Though we do conduct our own research and are increasingly able to provide reports based on our own published studies, for the most part 23andMe is dependent on peer-reviewed scientific research published by others to fuel the reports in our product. Lack of diversity in what is studied by the research community at large therefore impacts the results we are able to provide to customers. 
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-24211" src="https://blog-api.23andme.org/wp-content/uploads/2016/08/Ancestry-Comp-Home-300x190.png" alt="Ancestry Comp Home" width="300" height="190" /> 
When it comes to our Ancestry Composition feature (which tells people the proportion of their DNA that comes from each of 31 populations), the results we provide to customers are derived by comparing their DNA to what are known as “reference datasets”.
We use publicly available data from academic initiatives that have specifically sought to characterize large swaths of the human genetic diversity of our planet: the <a href="http://www.zoology.ubc.ca/~bio336/Bio336/readings/Li2008.pdf">Human Genome Diversity Project (HGDP)</a>, <a href="http://www.sanger.ac.uk/resources/downloads/human/hapmap3.html">HapMap3</a> and the <a href="http://www.1000genomes.org/">1000 Genomes Project</a>.
We augment this public data with information provided by a small percentage of our customers whose data meet our rigorous standards for being included in a reference dataset.

<h6>Is Bigger Better?</h6>

The author of the Quartz article focused in on the numbers of people in our most granular population references. She specifically questioned how we can claim to provide accurate results about her ancestry (she identifies as Korean, but her 23andMe results indicated Japanese and Chinese ancestry, as well as Korean) when there are data for “only” 76 Koreans in our reference data set. It’s an understandable worry – so much of what we hear about these days in science is the power of “big data”.  
Bigger must be better, right? Not necessarily.
For Ancestry Composition, high accuracy can often be obtained with relatively modest sample sizes. Size matters more when it comes to granularity, not accuracy.
We’ve done a comprehensive evaluation of our algorithm and reference datasets, and are confident in the accuracy of the results we report for customers with Korean or any other ancestry.
If you want to get into the nitty gritty you can check out this <a href="https://www.23andme.org/ancestry_composition_guide/">white paper</a> (in which we describe the multiple steps that go into producing accurate results and the metrics demonstrating how well our algorithm works), this <a href="https://blog.23andme.org/ancestry/23andmes-newest-feature-explores-your-ancestry/">blog post</a> or this <a href="https://blog-api.23andme.org/wp-content/uploads/2012/11/20121027_ancestry_painting_methods_poster.pdf">scientific poster</a>.
<h6>Granularity</h6>
The gist is that we only go as granular as we can for a given confidence threshold. Customers can adjust their results from a 90 percent confidence level (“Conservative”) down to 50 percent (“Speculative”). If we say that a section of DNA is most likely Japanese or Chinese or Korean at one of our higher confidence thresholds, we stand behind it.  If we weren’t sure that we could make the distinction, we’d go up a level and say that that DNA reflected “East Asian” ancestry.
The information would not be incorrect, simply less specific.
While the impact of adding more Korean individuals (or individuals of any of the groups we currently have represented in our reference datasets) is likely to be small in terms of improving the accuracy of our Ancestry Composition results, it could help us add more granularity to our results – i.e., groups of people from more specifically defined geographical areas. That way, for example, we might be able to distinguish between Cameroonian and Ghanaian ancestry, instead of lumping ancestry from these different locations under the label “West African.”


The author of the Quartz article correctly points out that we do have a lot of data and granularity for Europe (providing, for example, separate French &amp; German and British &amp; Irish groupings), but not for the rest of the world. She implies that this is driven by a lack of effort or concern on our part. The truth is that we have a great deal of customer data to enhance the public data available for Europeans because the vast majority of our customers have European ancestry, and several thousand of them are eligible to contribute to our reference dataset. This is not because of a “commercially driven ethnic bias,” and we have for several years been making in-roads to improve the diversity in our research and reference data.
This is where we come back to where we began – this is not just a 23andMe issue but an issue with diversity in genetics research in general.

<h6>23andMe&#8217;s Diversity Efforts</h6>

There’s only so much we can do as a single company, but we are trying. We funded the genotyping of the HGDP samples, data which are publicly available. <a href="https://www.23andme.org/roots-study/">Our Roots into the Future</a> project enrolled 10,000 African Americans in our research program, and our <a href="https://blog.23andme.org/23andme-research/23andmes-african-ancestry-project/">African Ancestry Project </a>helped contribute to our West African reference dataset. We recently collaborated to obtain data from for over 400 representatives of populations in the Democratic Republic of Congo. One of our researchers was <a href="https://blog.23andme.org/news/announcements/23andme-scientists-improving-diversity-in-genetic-research/">awarded NIH funding</a> to develop new methods for uncovering genetic variants associated with disease, especially in those with non-European ancestry. There are additional programs in the works, and we look forward to sharing more as we can.


We’re also always looking for more publicly available data that we can use to improve our product and inform our research. But it’s not as simple as just pulling studies for a given group or purchasing reference data.  There are important scientific and ethical considerations that must be attended to when collecting population data and 23andMe is not willing to compromise our standards in the interest of appearing more diverse.


We can always do better. We want people – researchers, customers, journalists – to keep holding us accountable and pushing us to lead the way in consumer genetics and genetics research. But accusing us of racial bias and shoddy science is unfair. It reduces an important conversation to clickbait.


Please share your comments here but don&#8217;t limit it to our blog – discuss your ideas, raise awareness and spread the word that the lack of research diversity is a real problem. We want people to have informed opinions and conversations on this topic since the impact of genetics research will only continue to grow.

23andMe Blog

23andMe Blog Team

The Real Issue: Diversity in Genetics Research

From the beginning, 23andMe has published research findings in peer-reviewed scientific journals. Publishing is <img loading="lazy" decoding="async" class="alignright size-medium wp-image-24284" src="https://blog-api.23andme.org/wp-content/uploads/2016/09/Microscope-Icon-192x300.jpg" alt="microscope-icon" width="192" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/09/Microscope-Icon-192x300.jpg 192w, https://blogcms.23andme.com/wp-content/uploads/2016/09/Microscope-Icon.jpg 456w" sizes="auto, (max-width: 192px) 100vw, 192px" />the most important way for scientists to share results and advance the understanding of science. It’s also a fundamental tradition of the scientific process: Expose your work to the scrutiny of other scientists, and make your findings publicly available to inform future studies.
But for non-scientists reading popular science articles in newspapers and blogs, the process and purpose of publishing in a peer-reviewed journal isn’t always clear. In this blog post, 23andMe scientists explain what makes scientific publishing unique and important. We also cover how 23andMe&#8217;s findings make it from the inside of our database to the front page of your morning paper.
<h6>
 
The publication process 
</h6>
A wide variety of scientific discoveries make their way from our database to your inbox through the same process:
<ol>
<li>Make a discovery! 23andMe scientists use data from our research participants to find genetic associations with traits or diseases, or to learn about ancestry.<img loading="lazy" decoding="async" class="alignright wp-image-24280" src="https://blog-api.23andme.org/wp-content/uploads/2016/09/Investigate-Image.jpg" alt="investigate-image" width="200" height="168" /></li>
<li>Describe the discovery in a manuscript. Scientific manuscripts are written in very technical language. They usually follow a strict format. They begin with a short summary and an introduction, followed by details about the methods used, a description of the results produced, and a discussion of what those findings might mean.</li>
<li>Submit the manuscript to a peer-reviewed journal. 23andMe has published in numerous scientific journals including <a href="https://www.nature.com/ng/index.html">Nature Genetics</a>, <a href="https://www.nature.com/ncomms/">Nature Communications</a>, and <a href="http://journals.plos.org/plosgenetics/">PLoS Genetics</a>. (Our preference is either to use “open access” journals that do not require payment for readers to access articles, or to pay extra to make our articles freely available.)</li>
<li>Revise the manuscript through the peer-review process. In response to suggestions and criticism from independent scientific experts, or peer reviewers, scientists at 23andMe revise and improve the report of their findings.</li>
<li>Publish the findings. Manuscripts are only accepted and published if the peer reviewers and journal editor decide that the findings are valid and important.</li>
<li>Spread the word. We share 23andMe publications through press releases, news articles, blog posts, and emails to 23andMe users. We also list our publications on our website.</li>
</ol>
<h6>Why does 23andMe publish scientific studies?</h6>
<ol>
<li>To give back to 23andMe research participants. “Returning something to customers who participate in research is the top reason (we publish),&#8221; says Joanna <img loading="lazy" decoding="async" class="alignright wp-image-24279" src="https://blog-api.23andme.org/wp-content/uploads/2016/09/Email-Icon.jpg" alt="email-icon" width="200" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/09/Email-Icon.jpg 168w, https://blogcms.23andme.com/wp-content/uploads/2016/09/Email-Icon-150x150.jpg 150w" sizes="auto, (max-width: 200px) 100vw, 200px" />Mountain, the senior director of research at 23andMe. We make an effort to publish our findings in publicly available journals. That way our work can be read for free by our users and by scientists worldwide. It’s important for us to show our research participants how and when their contributions lead to discoveries.</li>
<li>To establish the credibility of 23andMe research. We also publish to maintain our reputation in the scientific community. “In science, you have to be able to explain what you did and show the outcomes so that other scientists can understand, evaluate, and replicate your results. It&#8217;s only by doing that that other scientists will trust you,” said Joyce Tung, vice president of research at 23andMe. 23andMe has very high scientific standards for the information we share with our users. We hold our own research to the same high standards. We are proud of the studies we have published, and we encourage feedback from the scientific community that could help us to be even better.</li>
<li>To help advance science and medicine. In order for our research to help people, we need to put our discoveries out there. “I think (publishing) is important to our customers because they want their contributions to help others,” says Joyce Tung. Every paper we publish has the potential to inspire the next discovery and push science forward.</li>
</ol>
23andMe users are our partners in research: each scientific study we publish is possible because of the research questions answered by 23andMe users. Every answer 23andMe users contribute has the potential to lead to another discovery.
Click here to see all the scientific studies published by 23andMe, on topics ranging from cancer to ancestry. 
 
This post was written by Sarah Laskey and Jessie Inchauspe.

Why We Publish

After she retired from teaching theater at a Florida college, Julia Gagne’s life took on its own unexpected dramatic arc.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-24256" src="https://blog-api.23andme.org/wp-content/uploads/2016/08/Julia-Doug-300x300.jpg" alt="Julia &#038; Doug" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/08/Julia-Doug-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Julia-Doug-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Julia-Doug-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Julia-Doug-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Julia-Doug-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Julia-Doug-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Julia-Doug-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Julia-Doug-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Julia-Doug.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Although she’d been adopted at birth more than 65 years ago, Julia hadn’t spent much time searching for her biological family. When she tested with 23andMe a few years ago, it was more to simply learn a little about her ancestry.
She was a little curious about what else she might learn, but she didn’t expect it would change her life.
She understands how all that sounds overly theatrical – she’s directed enough plays to know – but this plot twist is real.
“It sounds dramatic,” Julia said, “Because it is dramatic.”

<h6>Her Early Search</h6>
Julia was raised in a loving family. She didn’t really pine for her biological family, but in the early 1980s she did get some records from the state of Michigan about her adoption. There was nothing in the records that would help her identify her birth mother, but Julia learned her mother’s age, what she did for a living and her level of education. That and a few other facts were all she found. She filed those papers away for a few decades and went on with her life. Then a few years ago, Julia signed up for 23andMe.


“The results were interesting,” she said.


She didn’t find any close relatives, at least not at first. And then about a year ago she got a close relative match, someone listed as a first cousin. For Julia, who had never met or known any biological relative, finding a first cousin was a big deal. She was taken aback.
“What?” she thought.
<h6>Her First Connection</h6>
So using 23andMe she sent the man a message, explained who she was, where she was born and when. And, of course, she told him that she’d been adopted. Then she waited.
“A few weeks later, I received a message that would change my life,” Julia said.


She’d actually been out with a friend, getting ready to go into a movie, when she noticed she’d gotten an email. She opened it up and read.


“I think you are my aunt. I think your mother was Beatrice,” her newfound nephew said. “I think you have a half brother who is alive, and a half sister who has passed on. But let&#8217;s figure it out.”


And there was more.
“He gave me a phone number, and told me my brother was waiting for me to call,” Julia said.
<h6>
 Much in Common</h6>

Of course, she called.
On the other end of the line was her brother, Douglass Fiero, also a retired college professor, although he taught literature, not theater.
The connection was immediate. Doug hadn’t known of Julia’s existence, but the timing of her birth suddenly made sense.
A few years older than Julia, Doug remembered a time when he was nine and his sister six and they spent two months sleeping in the kitchen of his father’s small apartment. His parents had been divorced, and his mother who’d been raising him and his sister, had left the children with their father for a time. That’s when Julia was born.
On the phone so many years later, Julia and Doug spent a lot of time trying to get to know each other. He told her about her half sister, who’d passed away, about his sons and his work. But most of all Doug wanted Julia to know about their mother.


“Probably the most intelligent person I’ve ever known,” he said.

<h6>Their Mother</h6>

Julia saw a little of herself, but also some of the same traits that so distinguished her own adoptive mother. Both her mother who raised her and her biological mother attended college in Kalamazoo. And both women ran businesses and raised kids on their own at a time when that wasn’t common.


“The main thing I wanted to do when we first talked was to tell (Julia) about our mother,” Doug said. “She is really important. Someone, who along with my wife, is the most significant person in my life. I was really excited to share that with (Julia). It’s been a wonderful and startling thing to be able to do that.”
Julia eventually visited Doug and his wife in New Jersey. They shared their own histories, and the coincidences in their lives: Julia’s love of theater had been sparked by a summer stock theater, uncannily the same theater to which their biological mom took Doug and his sister when they were children; moreover, Julia spent all of her career and Doug spent the major portions of his career teaching at the university level.
For Julia it’s the kind of drama that would be hard to make up, and she’s still a little shocked that after so many decades she’s pieced together the story of her birth.
“My birth mother had told no one of my existence,” she said “Without the DNA analysis at 23andMe, I would never have found any members of my birth family. No adoption registry would have provided answers ever. I am very grateful, incredibly surprised and delighted by this turn of events. It is still somewhat incredible to me that this could happen after more than six decades of life. Amazing.”

Drama in the Family

As a wedding planner, Wendy Wojcik pays close attention to even the smallest of details, yet in her own life she always ignored one big one – the identity of her biological father.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-24251" src="https://blog-api.23andme.org/wp-content/uploads/2016/08/Wendy-W-Quote-300x300.jpg" alt="Wendy W Quote" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/08/Wendy-W-Quote-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Wendy-W-Quote-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Wendy-W-Quote-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Wendy-W-Quote-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Wendy-W-Quote-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Wendy-W-Quote-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Wendy-W-Quote-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Wendy-W-Quote-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Wendy-W-Quote.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />


That all changed recently. Upon reaching her 50th birthday and mourning the loss of her mother, Wendy realized she wanted to know who her father was, what he may have passed on to her, and what it might mean for her now.
“When I turned 50, I wanted to know those details,” she said. “Then I got 23andMe as a gift, and I’ve learned so much. It’s been the gift that keeps on giving. All of this stems out of doing 23andMe.” 

<h6>Different Dads</h6>

What she learned changed her, her two sisters and her brother. Wendy and her siblings grew up in the Pacific Northwest knowing that their dad wasn’t their biological father. Their mom was always pretty frank about it, letting them know that they each had different fathers, but never telling them who those men were.


“We all look different,” said Wendy.

Their mom, who’d been a nurse, shared a few details of her rough years when as a teenager she had her kids, but it wasn&#8217;t much. The details were a few names that meant very little, as well as some dates and cities, but it wasn’t enough to identify their fathers. And over time, Wendy and her siblings just stopped asking. They didn’t want to hurt anyone’s feelings. And, according to Wendy, they were fine with not knowing, or at least they thought they were.
“When you don’t know, it’s always in the back of your head, but we’d tried to forget about it,” she said.

<h6>Turning 50</h6>

And in a way Wendy, her two sisters and her brother did forget about it. But then two things happened – Wendy turned 50; and her mother died. Suddenly Wendy felt she had permission to start her search.
In early 2016, a friend gave Wendy a 23andMe kit as a gift. Wendy sent her sample back to the lab and waited. Her results came in and that’s when things started happening, really fast. She connected right away with someone who was listed as a close cousin.
“I recognized the last name,” said Wendy. “It was one of the last names of the men my mom dated when I was young.”


She thought that   it was more than just a coincidence, and her cousin must be related to the man her mother once dated and that he, “must be my dad.”

<h6>A Big Surprise</h6>

Her other surprise was that her younger sister Elena was not her half sister, as she’d been lead to believe, but her full sister. They share the same biological father.
Through her cousin found on 23andMe, Wendy and her sister were able to find the man they believed was their biological father. He was still alive, so they reached out and he immediately wanted to meet. They eventually were able to confirm he was their father, their mother’s former high school boyfriend.
Wendy immediately realized how much this search and information could help the rest of her family.


“It was so fast and as soon as I found my father, I said, ‘we’re all going to get a kit, and we’re all going to find out who our fathers were,’” Wendy said.

<h6>Narrowing Down the Possibilities</h6>

One by one over a few months, Wendy’s other sister, Tamara, and her brother Paul, tested with 23andMe. They each found cousins who were able to help them in their search. One of their cousins, well-versed in using genetic genealogy, helped Wendy quickly sort through matches and identify the most likely candidates.
And they used the bits of information they had from their mother like dates, names, and cities to narrow the search.
And then they found who they had been looking for. Wendy’s oldest sister’s biological father turned out to be a former race car driver, and their brother’s father was their mom’s former square dancing teacher. They were all still alive and Wendy and her siblings, who range in age from 49 to 55, each got to meet their fathers. They all welcomed the news.  Wendy and her siblings got a chance to meet their extended families and other half siblings for the first time.


“The best part about this is that even though our mom is gone, we’re gaining a whole new family, some of whom were even looking for us and all seem happy to know us,” Wendy said. “It’s kind of cool that even though we lost a parent we gained a new one.”

Our Three Fathers

Your genetics, whether your partner suffers from chronic pain and the environment you share with your partner, all contribute to your <img loading="lazy" decoding="async" class="alignright size-medium wp-image-24219" src="https://blog-api.23andme.org/wp-content/uploads/2016/08/DNA-strand-129x300.jpg" alt="10192015_Icons_Set1_Working.ai" width="129" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/08/DNA-strand-129x300.jpg 129w, https://blogcms.23andme.com/wp-content/uploads/2016/08/DNA-strand-442x1024.jpg 442w, https://blogcms.23andme.com/wp-content/uploads/2016/08/DNA-strand-380x880.jpg 380w, https://blogcms.23andme.com/wp-content/uploads/2016/08/DNA-strand.jpg 500w" sizes="auto, (max-width: 129px) 100vw, 129px" />own risk for having the condition, according to a new study into the complex mix of environmental and genetic factors that influence both the risk for chronic pain and for depression.


Scientists at the University of Edinburgh also <a href="http://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1002090">found</a> that the two conditions share some of the same environmental and genetic associations.


&#8220;We hope our research will encourage people to think about the relationship between chronic pain and depression and whether physical and mental illnesses are as separate as some believe,&#8221; study author Andrew McIntosh said in a University of Edinburgh news release.

<h6>Separate Studies</h6>

Published in PLOS Medicine, the study relied on data from Generation Scotland, a Scottish Family Health History study, as well as data from the <a href="http://www.ukbiobank.ac.uk/about-biobank-uk/">UK Biobank</a>.
In a separate study, researchers from 23andMe, Massachusetts General Hospital and Pfizer conducted genome wide association studies using data from 23andMe customers, who consented to participate in research.
They found that chronic pain could arise through the combined effect of many genetic factors. They also found that the risk for chronic pain is heightened if there is also a genetic risk for depression.


All of this is of interest because health researchers have seen that chronic pain and depression often go hand-in-hand.
<h6>A Link With Depression</h6>
While some of the links between the two conditions are quite evident – for example, dealing with a painful and debilitating injury can take a toll on even the most resilient individuals and their partners. But independent of those issues this study found that other factors are also at play.


“Chronic pain is caused by an accumulation of many small genetic effects and is associated with some of the same genetic and environmental risk factors that confer risk of depression,” according to the researchers, adding that “both genetic factors and chronic pain in a partner or spouse contribute to the risk of chronic pain for an individual.”


By identifying those shared contributions, researchers said they hoped it would help in the search for new approaches for treating depression and chronic pain.
The study can be found in the <a href="http://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1002090" target="_blank" rel="noopener noreferrer">PLoS Genetics.</a>

Genetics found to influence risk of chronic pain and depression

With summer upon us many are hitting the beach or pool and taking in some rays. Of course we&#8217;re also slathering <img loading="lazy" decoding="async" class="alignright size-medium wp-image-24157" src="https://blog-api.23andme.org/wp-content/uploads/2016/07/Sun-262x300.jpg" alt="Sun" width="262" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/07/Sun-262x300.jpg 262w, https://blogcms.23andme.com/wp-content/uploads/2016/07/Sun.jpg 508w" sizes="auto, (max-width: 262px) 100vw, 262px" />on sunscreen, since with sun exposure comes risk for skin cancer.


In the largest-to-date study of the most common form of skin cancer, basal cell carcinoma,  researchers at Stanford University School of Medicine identified 31 genetic associations for the disease, 14 of which were identified for the first time.

<h6>Types of Skin Cancer</h6>

Skin cancer is the most common type of cancer and there are three main types – basal cell carcinoma, squamous cell carcinoma, and melanoma, all named after the affected cell types. Basal cell carcinoma, the most common, affects more than <a href="http://www.skincancer.org/skin-cancer-information/basal-cell-carcinoma">four million people</a> annually in the United States alone – and although it can be disfiguring 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> annually and leads to about nine thousand deaths each in year in the United States. Melanoma is extremely rare, but it is also deadly.

<h5>Basal Cell Study</h5>
The new basal cell study follows <a href="https://blog.23andme.org/23andme-research/new-genetic-associations-found-for-one-of-the-most-common-skin-cancers/">another recent study</a> by the same group at Stanford that focused on squamous cell carcinoma. Both studies were carried out in a similar two stage fashion. In collaboration with 23andMe, scientists first conducted a large genome-wide association study using 23andMe customers who consented to participate in research and had reported having either basal cell carcinoma or squamous cell carcinoma. Then, a confirmatory genome-wide association study was performed using data from a different cohort of research participants, either from the Nurses’ Health Study or the Health Professionals Follow-Up Study.


Roughly 17,000 cases and nearly 290,000 controls were included in the new basal cell study. The researchers confirmed 17 previously reported genetic associations and identified 14 novel susceptibility regions. Some of the genetic associations are with genes or gene regions thought to regulate skin cells. Other regions are involved in maintaining telomeres – the ends of chromosomes that either become too long or too short in many cancers – regulating the immune system, and tumor progression.
<h6>Other Factors</h6>
The 31 genetic associations identified in this study are estimated to explain almost 11 percent of the familial relative risk for basal cell carcinoma.
Interestingly, many of the regions associated with basal cell carcinoma appeared to exert a bigger effect in younger individuals, which suggested that environmental factors for basal cell carcinoma might become more influential with age. When the scientists tested for interactions between the genetic markers and UV exposure, hair color, number of sunburns, and tanning ability, they found a significant interaction between a genetic marker in a gene called LPP and hair color, specifically light brown and dark brown/black hair groups.
This finding suggests that the LPP marker is exerting a bigger effect on risk for basal cell carcinoma in people with brown or black hair.
Overall, the new basal cell carcinoma study expands our knowledge of the genetic factors that contribute to the most common form of skin cancer. Understanding what drives cancer, both the genetic and environmental factors, and the combination of the two, will ultimately help researchers predict who is at risk, make diagnoses quicker, and develop more precise treatments.


The study appeared in the journal <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992160/" target="_blank" rel="noopener noreferrer">Nature Communications.</a>

New genetic variants found to influence risk of most common skin cancer

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Maria felt conflicted.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-24234" src="https://blog-api.23andme.org/wp-content/uploads/2016/08/Maria-quote-300x300.jpg" alt="Maria quote" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/08/Maria-quote-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Maria-quote-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Maria-quote-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Maria-quote-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Maria-quote-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Maria-quote-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Maria-quote-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Maria-quote-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2016/08/Maria-quote.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />


Here she was celebrating her parents’ 63rd wedding anniversary, and the last thing she wanted to do was upset her elderly mother. But on the flipside she had to ask her.
Maria now knew her mother’s secret, a secret that brought up many questions, serious questions. Maria wanted to know why her mother hid her true origins. Maria wanted to ask those questions and so many more, and her mother was the only one who could answer them.


“So I said to myself: ‘If she mentions the necklace, I’m going to say something,’” said Maria, a mother of young twins who lives with her husband in New Jersey.

<h6>A Mother&#8217;s Secret</h6>

Her parents had come back to New Jersey for their anniversary celebration. The couple met in New York City at a high school dance. Maria’s mom was 18 when she married her father. The couple raised four kids together, part of a large extended Italian family. But that large family was all on Maria’s dad’s side of the family. She knew nothing about her mom’s family.


“My mom’s story was that she was adopted and her parents died and she had no siblings,” Maria said.
Her mother told her kids very little about her biological family except to say there was a rumor that they were Italians who’d immigrated through Argentina to the United States.
Yet after testing with 23andMe and seeing her results, Maria discovered that her mother’s story just didn’t add up. Maria was only half Italian, and almost 20 percent African.


“When I saw it at first I was like ‘wait a second!’” Maria said.
She thought it was wrong.
When she told her sisters and brother they were in denial.
“Mom can’t be black?” they said.


Or could she?
<h6>Hidden African Ancestry</h6>
Both Maria’s sister and brother tested and they too had close to the same percentage African ancestry. So after that initial shock, Maria started to dig a little deeper, connect with cousins found through 23andMe, and that’s how she pieced together her mother’s family story.<img loading="lazy" decoding="async" class="alignright wp-image-24235 size-medium" src="https://blog-api.23andme.org/wp-content/uploads/2016/08/IMG_4769-e1471282681353-300x213.jpg" alt="IMG_4769" width="300" height="213" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/08/IMG_4769-e1471282681353-300x213.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/08/IMG_4769-e1471282681353.jpg 723w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The family’s story is surprising, but finding “hidden African ancestry” is much more common than many know. While most African Americans are aware that they have “white” ancestry – a vestige of the ugly history of slavery – fewer “white” Americans know that they may have “hidden African ancestry” in their families. This too is a legacy of slavery and segregation in America. For those families with hidden ancestry, it means that at some point in history someone in their family likely “passed” for white.
Each story is unique but commonly this was to escape the consequences of racism directed at African Americans that limited job and education opportunities.
For Maria learning this about her mother, didn’t so much change her identity as it changed how she looked at her family.
“It’s strange,” Maria said. “I grew up thinking I was one way and actually I’m not who I thought I was.”

<h6>Identity</h6>

Maria wanted to know why had her mother kept this secret for so long, but before she asked her questions she wanted to be sure, so she dug a little deeper. And then that day at church she said a prayer. She told herself that if her mother asked about the necklace she’d take it as a sign that it was OK to ask her mother.
As they left the church her mother noticed the necklace telling her daughter how much she liked it. Maria took it as a sign to start asking questions.
“It’s your sister’s necklace,” Maria told her mom.”


Her mother, who had always told her children that she’d been an only child, was stunned.


“’My sister? What do you mean my sister?’” Maria’s mother said.

<h6>The Great Migration</h6>

Maria told her mom whom it had come from and that she had not just found her mother’s sister but connected with a brother and a few more aunts.
Maria had learned that her mother wasn’t of Italian origin, nor was her biological family originally from Argentina, as she’d once told her kids. Her mother was born in Illinois. Her parents were African Americans from Mississippi, and her mother had had at least 19 siblings. Her mother’s family had moved from the Mississippi to Chicago for job opportunities, part of the wave of African Americans to move north in what is called the “<a href="https://www.npr.org/templates/story/story.php?storyId=129827444">Great Migration</a>.”


Maria had learned that at some point her mother and three of her siblings, who could pass for white, moved to New York City. Maria’s mom was 15 at the time. The four siblings used a Latino sounding last name. Over the years they either lost ties or cut off contact with the rest of the family back in Illinois and Chicago. Maria’s mom soon met the man, who would be her husband at a school dance. When they got married it caused another rift in the family. After the marriage, Maria’s mother lost contact with her three siblings in New York.
Maria learned about this from relatives she found through 23andMe. One of the connections she made was with cousins in California who were the children of her mother’s brother.
<h6>Siblings Connect After Decades Apart</h6>
After making the connection Maria told her mom and together they traveled together to visit her mother’s 96 year-old brother. The two hadn’t seen each other in 64 years. Maria was also able to find two of her mother’s sisters who were still alive. She talks to them weekly and recently traveled to Chicago to meet one of them and her newly found cousins in person. These connections have given Maria a chance to see family photos of her grandparents, her mother as a young woman, as well as aunts and uncles she never knew she had.


“It’s fascinating and crazy,” Maria said. “I never knew these people existed and now it&#8217;s like I&#8217;ve known them my whole life.&#8221;


As for learning about her and her family’s African American ancestry, Maria said it didn’t really change how she thought about herself. It did change how she thought of her family, and the power of being connected to all these family members she never knew before.


“To me it’s an amazing story of a family’s racial divide, but with a very happy ending,” she said.

Bridging A Family’s Racial Divide

A little farmyard dust might the difference in bolstering against asthma and allergies, <img loading="lazy" decoding="async" class="alignright wp-image-1282 size-medium" src="http://35.88.189.111/wp-content/uploads/2008/09/amish-300x223.jpg" alt="" width="300" height="223" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/09/amish-300x223.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2008/09/amish.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />according to a study published in the<a href="http://www.nejm.org/doi/full/10.1056/NEJMoa1508749#t=articleDiscussion"> New England Journal of Medicine.</a>
Although the study was very small, it lends some additional evidence to the so-called “<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841828/">hygiene hypothesis</a>.” That theory suggests that the surge in allergies and asthma among modern children may have something to do with the increasingly sanitized environments in which they live.
It’s important to note, however, that the development of asthma and allergies is complicated. It involves many factors both environmental and<a href="https://blog.23andme.org/23andme-research/new-genetic-associations-found-for-allergies-and-asthma/"> genetic</a>. Asthma and allergies, which are strongly linked to each other, are among the most common diseases in the industrialized world.
<h6>Genes and Environment</h6>
23andMe has done several studies looking specifically at the<a href="http://www.jacionline.org/article/S0091-6749%2813%2901643-6/abstract"> genetic associations</a> around allergies and asthma. But researchers have spent several years trying to unravel the cause of the surge in these conditions. This is just the latest study that has pointed to the hyper-clean environment among modern societies that might offer some explanation.
A<a href="https://www.ncbi.nlm.nih.gov/pubmed/26339029"> similar study</a> done last year, by researchers in Belgium, looked at allergies among children who grew up on European dairy farms.
This new study, done by researchers at the University of Chicago, focused on differences in asthma and allergy rates among the Amish and Hutterite farming families. Although the two Christian sects are similar in their isolation and ethnicities, their farming practices are distinct. The Hutterites embrace modern agricultural technics. The Amish decidedly old-school with most everything done by hand and plows pulled by animals.
“Our study in a small number of children was sufficient to show significant differences in the prevalence of asthma and in immune profiles,&#8221; the researchers said in the paper. &#8220;(This) suggesting that very strong environmental factors must account for these differences.”
<h6>Dust</h6>
The “very strong environmental” differences referred to in the study was the high level of bacteria in the dust in Amish family environs. The researchers looked at both the content of that dust – even taking samples and exposing mice to the dust – and they also looked at blood samples from children in both groups.
What they found was evidence that the constant low-grade exposure to microbes in the dust, appeared to boost the Amish children immune response. Those children had higher levels neutrophils, a type of white blood cell involved in the body’s innate immune response. They also showed signs of other proteins involved in the body’s inflammatory response.
Some of these findings may help research into treatments or other therapies for asthma and allergies.

Dirt Don’t Hurt

A research study spearheaded by 23andMe has uncovered new genetic associations for a group of rare<img loading="lazy" decoding="async" class="alignright size-medium wp-image-3114" src="https://blog-api.23andme.org/wp-content/uploads/2009/03/bloodcells-300x222.jpg" alt="bloodcells" width="300" height="222" /> blood cancers offering insights into these sometimes fatal conditions.


Published in the journal <a href="http://www.bloodjournal.org/content/early/2016/06/30/blood-2015-06-652941?sso-checked=true">Blood</a> earlier this summer, the research identified variants in seven genes associated with<a href="http://www.cancer.gov/types/myeloproliferative"> myeloprofliferative neoplasms</a>, or MPNs, a group of rare blood disorders that occur when bone marrow produces too many red or white blood cells, or platelets.  Most forms of MPN are cancerous and all types are rare, affecting fewer<a href="http://www.mpnresearchfoundation.org/Primary-Myelofibrosis#Prevalence_2"> than 100,000 people in the United States.</a>
“This work represents a significant addition to our understanding of the genetic predispositions for classic myeloproliferative neoplasms,” said David Hinds, lead author of the study and 23andMe Principal Scientist and Statistical Geneticist. “And these insights were fueled by the participation of members of our MPN Research Community.”

<h6>MPN Researchers</h6>

Working with some of the leading MPN researchers in the world  – <a href="http://hematology.stanford.edu/research/gotlib_resume.html">Jason Gotlib</a> and<a href="https://med.stanford.edu/profiles/james-zehnder"> James L. Zehnder</a> at Stanford, Ruben Mesa at the Mayo Clinic, and<a href="http://mcubed.umich.edu/users/mariehtn"> Marie Nguyen</a> at the University of Michigan – 23andMe launched a community to study the genetics of MPN in 2011. The goal was to enroll 1,000 people with MPN into the research community, but within a year more than 1,700 people had joined and consented to participate in research.
The study identified new genetic associations with MPNs that are inherited, germline mutations, which means that you were born with them. The study included data from more than 250,000 23andMe customers who consented to research, 726 of whom had some form of MPN and another 497 of whom are carriers of the V617F mutation (see below).
The scientists found variants on or near seven genes – TERT, SH2B3, TET2, ATM, CHEK2, PINT, and GFI1B – associated with MPN.  These associations may also help in learning more about the underlying biology of the disease, for instance variants in the TERT gene are associated with certain kinds of tumors and increased red blood cell counts. The ATM gene is involved in controlling the rate at which cells grow and divide, and scientists believe that the TET2 gene is important in the production of blood cells from stem cells.
The study also found that variants in those genes are also associated with the JAK2 V617F somatic mutation – a mutation that occurs after birth – that has previously been associated with developing MPNs.
<h6>Inherited v. Somatic Mutations</h6>
Nearly all people with the polycythemia vera form of MPN have this mutation while many of those with the other two forms of MPN – essential thrombocythemia and myelofibrosis – also have it.
What is also interesting about this study is that researchers were able to use inexpensive genotyping SNP arrays to detect not just inherited, germline mutations, but also the somatic V617F mutation. They were also able to detect the V617F mutation in individuals who had not reported having an MPN.
Both inherited and somatic mutations contribute to the development of MPN and something called “age-related clonal hematopoiesis,” which refers to a stem cell in the bone marrow making copy after copy of itself. Sometimes during the copying process the cell acquires a new somatic mutation. Researchers have found that in the development of different blood cells, these somatic mutations become more frequent as people age and can sometimes lead to blood cancer.


The researchers believe that custom SNP arrays, such as the one used by 23andMe, could also be used to look for additional somatic mutations linked to other blood disorders and cancers.


The study can be found in the journal <a href="http://www.bloodjournal.org/content/128/8/1121.long?sso-checked=true" target="_blank" rel="noopener noreferrer">Blood</a>.

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