<div id="attachment_23961" style="width: 250px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23961" class="wp-image-23961 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-240x300.jpg" alt="esteban-gonzalez-burchard" width="240" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-240x300.jpg 240w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-768x960.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-819x1024.jpg 819w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-704x880.jpg 704w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-944x1180.jpg 944w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard.jpg 1157w" sizes="auto, (max-width: 240px) 100vw, 240px" />Genetic Ancestry Matters in Precision Medicine Webinar: 1/19/2017 11 am &#8211; 12 pm PT To register go here.</div>
It&#8217;s long been known that disease risk is different among different ethnic groups, and so too is the effectiveness of certain treatments, but we still don’t know exactly why that is.


UCSF medical researcher Esteban Burchard, MD, MPH, has focused his work on solving this puzzle and focusing more genetic research on under-represented Latino and African American communities to achieve that.


For example, his lab is working to identify the risk factors that predispose Latino and African American children and teens to higher risks for asthma. His team is exploring how these new genetic discoveries could lead to improved treatments for the condition.
In a webinar intended for healthcare professionals, educators and academic researchers, Dr. Burchard, will discuss the role of ancestry in advancing socially responsible scientific research to precision medicine in the clinic.

23andMe Blog

23andMe Blog Team

Genetic Ancestry Matters in Precision Medicine

Just before we kick off another year of blogging, it’s worth taking a moment to look back and single out what for us were some of the big stories, breakthroughs or findings in genetics from last year. 
Here is our top five.<img loading="lazy" decoding="async" class="alignright wp-image-4565 size-full" src="http://35.88.189.111/wp-content/uploads/2009/09/iStock_000004751590XSmall.jpg" alt="" width="300" height="199" />
<h6>Diversity</h6>
For a very long time, medical research in general has focused largely on people of European ancestry and that is even<a href="https://www.nature.com/news/genomics-is-failing-on-diversity-1.20759"> more apparent with genetic research</a>. Less than five percent of genetic research on disease includes people of African ancestry. In fact most genetic research is focused on people of European ancestry, meaning that we risk missing key scientific discoveries that could benefit people of all ancestries. Last year 23andMe launched two separate efforts meant to help alleviate some of these disparities. Both are NIH-funded studies but they approach the diversity issue in different ways.
Kasia Bryc, a senior scientist and population geneticist at 23andMe, is leading one of the studies that will use<a href="https://blog.23andme.com/news/announcements/23andme-scientists-improving-diversity-in-genetic-research/"> admixture mapping</a> to identify genetic variants associated with disease in under-represented populations. This leverages 23andMe’s existing database, which includes a large number of African Americans and Latinos who have mixed ancestry. The second study is the African American African American Sequencing Project that is being lead by Adam Auton, a 23andMe senior scientist and statistical geneticist. This project will help address health research disparities by creating a genetic resource for health research in African Americans that could improve the understanding of diseases in minority populations.
Gene Editing, Again
This is the third year in a row we’ve singled out the innovative technique for specific bits of DNA, called CRISPR. It is a simple and quick way of snipping out deleterious sections of DNA and stitching in “corrected” sections. This offers huge potential for treating diseases or other deleterious conditions. It has already been used to treat<a href="https://www.nature.com/nature/journal/v539/n7629/full/nature20134.html"> sickle cell anemia</a> and<a href="https://www.nature.com/news/chinese-scientists-to-pioneer-first-human-crispr-trial-1.20302"> lung cancer</a>. But CRISP also presents some serious ethical issues about tampering with human DNA, and there are other issues.
For instance, researchers working on treating HIV found that the virus could quickly develop mutations that resist editing. The findings by researchers at McGill University in Montreal were<a href="https://www.nature.com/news/hiv-overcomes-crispr-gene-editing-attack-1.19712"> published back in April.</a> It illustrates the complexity of creating gene therapies with CRISPR. But even with this kind of hurdle, the promise of this technology makes it likely we’ll be hearing more about CRISPR this year.
<img loading="lazy" decoding="async" class="alignright wp-image-22305 size-medium" src="http://35.88.189.111/wp-content/uploads/2015/03/teardrop-300x234.jpg" alt="" width="300" height="234" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-300x234.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-768x600.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-1024x800.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-880x687.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2015/03/teardrop-1180x921.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
<h6>Not Depressing</h6>
Past efforts to study genetics of major depressive disorder all came up short until last year. It turns out that size matters when it comes to the study of depression. Past efforts were limited by numbers. However a “mega analysis” of data from more than 400,000 people  found 17 genetic variants in 15 different genetic regions associated with major depressive disorder.
<a href="https://www.washingtonpost.com/news/to-your-health/wp/2016/08/01/large-dna-study-using-23andme-data-finds-15-sites-linked-to-depression/?utm_term=.a6c976af27d5"> The study</a>, by scientists from Pfizer, Massachusetts General Hospital and 23andMe identified genes associated with depression and schizophrenia. The study also illustrates the<a href="http://jamanetwork.com/journals/jama/article-abstract/2595522"> power of big data</a>. While identifying genes associated with the condition is useful to better understand the disease and its causes. It also gives researchers studying the biology of the disease clearer paths to follow, but much work is still needed.
<h6>Love and Science </h6>
Our year started with the<a href="https://blog.23andme.com/23andme-research/love-and-science/"> moving story</a> of the married couple, Eric Minikel and Sonia Vallabh.  Together they switched careers to become medical researchers and focus all their energy on the study and treatment for prion disease. It is a rare but devastating and fatal genetic condition. It hits the nervous system, impairs brain function, and causes other neurodegenerative symptoms. It typically manifests itself around the age of 50.
Sonia’s mother died of the disease at 52. Sonia inherited the genetic mutation that puts her at a very high risk for the disease. The couple formed a<a href="http://www.prionalliance.org/"> non-profit</a> focused on the disease. They’ve incorporated data from 23andMe in<a href="http://stm.sciencemag.org/content/8/322/322ra9.full"> their work</a> and their story has been featured in both the<a href="http://www.theatlantic.com/health/archive/2015/02/insomnia-that-kills/384841/"> Atlantic</a> and the<a href="https://www.newyorker.com/books/page-turner/a-prion-love-story"> New Yorker</a>.
<h6>The Election</h6>
The ascendance of Trump to the U.S. presidency leaves open a lot of questions about the future of government funded research in the US. Not just that even the<a href="http://www.sciencemag.org/news/2016/12/waiting-science-adviser"> role of science</a> in setting policy is up in the air. Also unknown is whether the new administration will keep Francis Collins, as director of the NIH. At the helm of the agency since 2009, Collins has helped push the<a href="https://www.nih.gov/research-training/allofus-research-program"> Precision Medicine Initiative</a>, now called “All of Us.” He has deftly navigated the political waters of Washington, but<a href="https://www.statnews.com/2016/12/13/trump-collins-eisen/"> some</a> have publicly pushed for his replacement. Whether he stays or goes, it’s still unknown what if any science initiatives the new administration will champion.

Our Top Five from 2016

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.com/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.com/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.com/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.com/ancestry/23andmes-newest-feature-explores-your-ancestry/">blog post</a> or this <a href="https://blog-api.23andme.com/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.com/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.com/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.com/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.

The Real Issue: Diversity in Genetics Research

In a wonderful interview he did with comedian W. Kamau Bell, actor and producer Levar Burton explained the significance of the current reboot of the series<img loading="lazy" decoding="async" class="alignright size-medium wp-image-23977" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-300x300.png" alt="04012016_ancestryQuote_long" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-1024x1024.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2016/05/04012016_ancestryQuote_long.png 1080w" sizes="auto, (max-width: 300px) 100vw, 300px" />


“Whether you feel like it has any relevance or meaning to you, the real truth is that it does,”<a href="http://www.motherjones.com/media/2016/04/history-roots-2016-remake-levar-burton-kamau-bell" target="_blank" rel="noopener noreferrer"> Burton said featured in the magazine Mother Jones.</a> “If you are part of the fabric of America, this is your story, too.”


That was, in part, what appealed to viewers so much when the original mini-series premiered almost 40 years ago. Roots drew in more than 100 million viewers at the time and garnered nine Emmy awards. Burton, then 19, starred as the young Kunta Kinte, both he and the series became a generational touchstone for many people, particularly African Americans.



Based on a novel by<a href="http://www.goodreads.com/book/show/546018.Roots"> Alex Haley</a>, the series tells a personal story of tracing Haley’s family history being torn from Africa, through the awful Middle Passage, and ultimately bondage in America. And driving that story all along was Haley’s own quest to learn about himself, his family and where his ancestors came from.
In an article in Reader’s Digest in the 1970s, Haley said that yearning is universal.


“In all of us there is a hunger, narrow and deep, to know our heritage to know who we are and where we have come from,” Haley said. “Without this enriching knowledge, there is a hollow yearning. No matter what our attainments in life, there is a vacuum, an emptiness and a most disquieting loneliness.”


Many Americans are interested in their ancestors and their own cultural origins, but for African Americans, that question can be particularly hard to answer. Slavery severed their connections to Africa and the rich diversity of cultures there. Haley’s book offered African Americans a roadmap of sorts for tracing their own family stories and it reminded Americans of their own country’s history.
The advent of genetic testing has offered many African Americans a window into their ancestry that they couldn’t see any other way.
For Burton, who tested with<a href="https://www.23andme.com/roots/"> 23andMe</a>, testing was eye opening, and it’s offered others a goldmine of information that just wasn’t available before.
&#8220;I&#8217;ve always felt there was a piece of me missing,&#8221; <a href="https://www.colorlines.com/articles/see-levar-burton-malachi-kirby-learn-about-their-roots" target="_blank" rel="noopener noreferrer">Burton said.</a> “I’m sure a lot of black people in this country have that same feeling… that who I am did not just begin here; that I’m part of a lineage that goes back much further than that… and to have the proof in my hand&#8230;it’s powerful.”
See Burton and the actor Malachi Kirby, who plays Kunta Kinte in the new version of Roots, talk about using 23andMe to explore their ancestry.
 
<iframe loading="lazy" width="640" height="360" src="https://www.youtube.com/embed/y_gJ9inlFG0" frameborder="0" allowfullscreen="allowfullscreen"></iframe>

Roots Revisited

<div id="attachment_23961" style="width: 250px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23961" class="wp-image-23961 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-240x300.jpg" alt="esteban-gonzalez-burchard" width="240" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-240x300.jpg 240w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-768x960.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-819x1024.jpg 819w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-704x880.jpg 704w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard-944x1180.jpg 944w, https://blogcms.23andme.com/wp-content/uploads/2016/05/esteban-gonzalez-burchard.jpg 1157w" sizes="auto, (max-width: 240px) 100vw, 240px" />Esteban G. Burchard, MD, MPH</div>
Asthma can start with simple tightness in the chest, but end in an epic battle to breathe.
So whether you are black or white, Asian or Latino, an asthma attack can be frightening, especially if you are a kid.
But who you are, or more accurately what your ancestry is, does matter in what scientists can say about the triggers, causes and biology of the disease.
There has been a lot of research that’s been done on asthma, and we know a lot about the condition. But the vast majority of that research has been done only on people of European ancestry, and in many cases it offers little insights for people of other ethnicities.
Some estimates show that<a href="https://www.nature.com/nature/journal/v475/n7355/full/475163a.html"> more than 90 percent</a> of the research into the genetics underlying disease is on individuals of European descent alone.
That’s a problem for everybody, according to the University of California at San Francisco Professor<a href="http://profiles.ucsf.edu/esteban.burchard"> Esteban Burchard</a>, an MD, MPH.


“Almost all the genetic studies of asthma have been done using white patients only, but you can’t assume these results will apply to other ethnic groups,” said Esteban, who directs the Genes-environments &amp; Admixture in Latino Americans Study and the Study of African Americans, Asthma, Genes &amp; Environments at University of California San Francisco.
He also serves as an expert on research disparities for President Obama’s Precision Medicine Initiative.
<div id="attachment_23960" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-23960" class="wp-image-23960 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2016/05/Asthma-prevalence-300x172.jpg" alt="Asthma prevalence" width="300" height="172" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/05/Asthma-prevalence-300x172.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2016/05/Asthma-prevalence.jpg 752w" sizes="auto, (max-width: 300px) 100vw, 300px" />Asthma prevalence among children of different ancestry.</div>
A long-time friend of 23andMe who previously served as an advisor in the company’s effort to recruit more African Americans called “Roots into the Future,” Esteban said that the lack of diversity in research leaves non-Europeans behind in the genetics revolution and it leaves huge gaps in scientists’ understanding of disease.
There are efforts to change that.
Recently 23andMe received<a href="https://blog.23andme.com/news/announcements/23andme-scientists-improving-diversity-in-genetic-research/"> a National Institutes of Health grant</a> for a project that uses admixture mapping as a way to aid gaining better insight into health research for underrepresented communities. While this doesn’t involve recruiting, it could help leverage 23andMe’s diverse collection of customers who have consented to research.
The need for these kinds of approaches to improve diversity in research are very apparent. Asthma is a case in point. It is the most common chronic disease among all children, but it hits African American and Puerto Rican kids at almost twice the rate of all other children. About 18 percent of Puerto Rican children have asthma, while about 15 percent of African American kids do.
Addressing this head on, Esteban recently lead a team that completed the largest single study of the genetic and environmental causes of<a href="http://link.springer.com/article/10.1007%2Fs00251-016-0914-1"> asthma in African American children</a>. The study suggests that only a tiny fraction of known genetic risk factors for the disease that have been discovered in other research actually apply to African Americans.


“This paper is an important first step towards truly understanding the biology of asthma in African Americans,” Esteban said.


The paper also reinforces the importance of gathering more research data on people of all ancestries to improve the insights that can be gained through genetic research.
The study included data from more than 1,200 African Americans, about 800 of whom have asthma, to look for genetic variants associated with the disease. The researchers looked at genetic variants known to be associated with asthma in people of European ancestry. They found that 95 percent of the variants that increase risk for asthma in Europeans didn’t appear to increase risk for African Americans. And for the first time they identified genetic variants associated with higher risk for asthma in African American children. Those variants were in or near genes that are also associated with obesity and inflammation, which could help researchers as they investigate the biology of the disease.
For Esteban this clearly shows the value of the research the team is doing by focusing on people of color.


“We want to understand why some minority communities have higher rates of disease and how they may respond differently to treatment,” he said. “But the risk factors we identify in these understudied populations can also point the way to new biology, which can be important for everyone.”

Asthma in African American Children

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

The pace of discovery in genetics is such that every few months a new finding has the potential to change something fundamental about our understanding of the science. To keep up, we here at 23andMe take a moment to look back and list the top genetic findings of the year.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" alt="23andMe_Logo_blog" class="alignright size-medium wp-image-6586" 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" />
&#8211; Ebola DNA 
As health workers heroically raced to try and stop the outbreak of Ebola in West Africa, <a href="https://www.newyorker.com/magazine/2014/10/27/ebola-wars" target="_blank" rel="noopener noreferrer">a core group of scientists</a> at Broad Institute began sequencing the virus in real time. They wanted to understand how it mutates, whether there are strains that are more deadly than others and why some individuals may be more resistant to the virus than others. In one of the team’s first studies, they were able to <a href="http://www.sciencemag.org/content/345/6202/1369" target="_blank" rel="noopener noreferrer">trace the start of the outbreak</a> in Sierra Leone to a funeral in May of 2014. But as a testament to the dangers many of these health workers face, five of the co-authors on the study – who worked in Sierra Leone – contracted Ebola and died.
&#8211; Noninvasive Prenatal DNA Testing 
A new kind of DNA test allows for the screening of prenatal abnormalities without the kind of invasive procedures needed in the past. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/iStock_000014838144XSmall-300x199.jpg" alt="new born baby" class="alignright size-medium wp-image-11065" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/02/iStock_000014838144XSmall-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/02/iStock_000014838144XSmall.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />. The test allows doctors to <a href="http://well.blogs.nytimes.com/2014/02/26/new-dna-test-better-at-predicting-some-disorders-in-babies-study-finds/" target="_blank" rel="noopener noreferrer">obtain fetal DNA</a> by taking a small blood sample from the mother and then screening for chromosomal disorders.
&#8211; $1,000 Genome? 
Much has been made about the quest for the <a href="https://www.nature.com/news/is-the-1-000-genome-for-real-1.14530" target="_blank" rel="noopener noreferrer">$1,000 genome</a> and its potential for revolutionizing medicine and research. <a href="http://www.utsandiego.com/news/2014/dec/01/san-diego-innovation-scientist-edico-illumina/" target="_blank" rel="noopener noreferrer">Illumina announced</a> that they have developed a machine – the HiSeq X ten – that, at volume, can reach that price point. Since the first human genome was sequenced a little more than a decade ago, the cost of sequencing has plummeted to less than one-one hundred-thousandth of its original price. But as the price of sequencing has dropped, the utility of that information has risen. Cost soon will no longer be a barrier for getting tested.
&#8211; Emergency Sequencing 
A boy is rushed to the hospital critically ill, but no one can quite figure out what is wrong with him. His case published in the <a href="https://dx.doi.org/10.1056/NEJMoa1401268" target="_blank" rel="noopener noreferrer">New England Journal of Medicine</a> and reported on in the <a href="https://www.nytimes.com/2014/06/05/health/in-first-quick-dna-test-diagnoses-a-boys-illness.html" target="_blank" rel="noopener noreferrer">The New York Times</a>, illustrates the power of next-generation sequencing to quickly identify a pathogen and help direct treatment. Suffering from a fever, headache, stomach pain and swelling of the brain, the 14 year-old’s condition got so bad that he was put into a medically induced coma. After weeks of trying treat and diagnose him, doctors finally decided to sequence the boy’s cerebrospinal fluid and compare it to a sequencing data from the <a href="https://www.ncbi.nlm.nih.gov/" target="_blank" rel="noopener noreferrer">National Center for Biotechnology Information</a>. Within a few hours using doctors were able to pinpoint a likely cause of the infection, the bacteria Leptospira, that brought him close to death.This allowed doctors to identify proper treatment and bring him back from the brink.
&#8211; King Richard’s Bones<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/12/richardiiiportrait.jpg" alt="richardiiiportrait" class="alignright size-full wp-image-21981" width="200" height="269" /> 
The story around the identification of <a href="https://blog.23andme.com/news/king-richards-bones/" target="_blank" rel="noopener noreferrer">King Richard III’s bones</a> found under a municipal parking lot in Leicester, England offers a rare opportunity to look at what we know about a historical figure, <a href="https://www.nature.com/ncomms/2014/141202/ncomms6631/full/ncomms6631.html" target="_blank" rel="noopener noreferrer">use DNA</a> from that individual, and then compare it with the DNA from living relatives –as well as what’s in the history books and even classic literature – to piece together a more complete version of history.
&#8211; Genetic Diversity 
Three studies over the past year have expanded what we know about people with ancestry from <a href="https://www.nature.com/nature/journal/vaop/ncurrent/full/nature13997.html" target="_blank" rel="noopener noreferrer">Africa</a>, <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0102645" target="_blank" rel="noopener noreferrer">south Asia</a> and <a href="http://www.sciencemag.org/content/344/6189/1280" target="_blank" rel="noopener noreferrer">Mexico</a>, and remind us that more needs to be done to improve the diversity of genetic studies, which in turn is critical for improving medical research for everyone.
&#8211; Eurogenes 
Studies early this year by scientists at Harvard and at the Max Planck Institute in Germany, added more to what we know about human evolution by tracing modern Europeans to <a href="https://www.nature.com/nature/journal/v513/n7518/full/nature13673.html" target="_blank" rel="noopener noreferrer">three distinct ancient populations</a>. Led by geneticist David Reich, the study used DNA extracted from ancient bones and compared the sequences to sequences from modern humans.
&#8211; More Ancient DNA<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2014/03/Image12-300x209.jpg" alt="Max Planck Forscher Prof. Dr.Svante PÃ¤Ã¤bo entschlÃ¼sselt Neandertaler-Genom" class="alignright size-medium wp-image-20651" width="300" height="209" /> 
Svante PÃ¤Ã¤bo and his team at the <a href="http://www.mpg.de/eva-en?section=eb-evb-g" target="_blank" rel="noopener noreferrer">Max Planck Institute for Evolutionary Anthropology</a> in Leipzig, Germany went back farther than anyone before in sequencing a <a href="https://www.nature.com/nature/journal/v514/n7523/full/nature13810.html" target="_blank" rel="noopener noreferrer">45,000 year-old leg bone</a> found on a riverbank in Siberia. PÃ¤Ã¤bo and his team were the first to decode the Neanderthal genome a few years back, and they have left us all to marvel as the ability to obtain a quality DNA sequence from ancient bones. But beyond that achievement, the sequence also gives us more detail about how modern humans evolved and interbred with their early human cousins, such as Neanderthals and <a href="http://www.theatlantic.com/technology/archive/2014/08/the-other-neanderthal/375916/" target="_blank" rel="noopener noreferrer">Denisovans</a>. From previous work, we knew that humans and Neanderthals interbred, but this sequence allowed scientists to pinpoint <a href="https://www.nytimes.com/2014/10/23/science/research-humans-interbred-with-neanderthals.html?ref=science&#038;_r=0" target="_blank" rel="noopener noreferrer">when the interbreeding occurred</a>.
&#8211; Protective Flaw 
Researchers lead by a team from Massachusetts General Hospital and the Broad Institute, found that a genetic variant in the gene NPC1L1 that not only lowers the levels of “bad” LDL cholesterol but also significantly <a href="http://www.bostonglobe.com/lifestyle/health-wellness/2014/11/12/flawed-gene-protects-against-heart-disease/itUCUgFWJEPdHR3fRqTReJ/story.html" target="_blank" rel="noopener noreferrer">cuts the risk for heart disease</a>. The finding published in the <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa1405386" target="_blank" rel="noopener noreferrer">New England Journal of Medicine</a>, is interesting for another reason. By pooling large sets of genetic data, researchers can find people with rare genetic variations that are protective against certain conditions. This in turn can help researchers more effectively identify the biological underpinnings for those conditions as well as target more effective treatments.
&#8211; Written in Our DNA 
Not wanting to toot our own horn, we didn’t single out all the papers 23andMe researchers published. It’s an impressive

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list, not just for how much work our scientists have done, but for the breadth of our research. We also posted a strong showing at this year’s meeting of the American Society of Human Genetics. And we can’t let the year go by without mentioning a paper published this month in <a href="http://www.cell.com/ajhg/home" target="_blank" rel="noopener noreferrer">American Journal of Human Genetics</a>. 23andMe population geneticist Kasia Bryc created a first-of-its-kind <a href="https://blog.23andme.com/23andme-research/history-written-in-our-dna/" target="_blank" rel="noopener noreferrer">genetic portrait of the United States</a>. The study offers a detailed look at how the ancestry make-up of self-identified African Americans, Latinos and European Americans differs by region and these differences reflect some of the distinctive socio-political history in different parts of the United States.
&nbsp;

Top Genetic Findings of 2014

<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

By Angela Liu and Shirley Wu



Nearly one in six men in the United States develops prostate cancer. This sobering statistic has spurred tremendous advances in research over the years, such that prostate cancer is now one of the most treatable and survivable cancers.



But there is still much we don’t know about prostate cancer and the factors leading to its development. These factors include non-genetic factors such as diet and lifestyle but also include genetic factors &#8212; variants of DNA that differ between individuals and are associated with susceptibility to the disease.



With new ways of probing the human genome, our knowledge of the genetic factors contributing to the risk of prostate cancer is growing. Researchers have identified dozens of genetic associations over the last five years related to prostate cancer. But is the current pace of research enough?







<h2 class="wp-block-heading" id="h-uneven-rates-of-prostate-cancer">Uneven Rates of Prostate Cancer</h2>



We would say no. Consider this: <a href="http://www.cancer.gov/cancertopics/factsheet/disparities/cancer-health-disparities#9" target="_blank" rel="noopener">rates of prostate cancer</a> in African American men are 1.5 to 3 times higher than for men with non-African ancestry, and African Americans have a two-fold higher mortality rate from the disease compared to European Americans. Non-genetic factors surely play a role in these differences, and chances are that genetic factors contribute, too. However, nearly all of the genetic research in prostate cancer has been in populations of European descent. Our knowledge of prostate cancer genetics in African ancestry individuals specifically &#8212; a group especially affected by the disease &#8212; is progressing much too slowly.



The few studies on African Americans have mostly been unable to confirm genetic associations identified in European populations, suggesting that different genetic factors influence risk in these two groups.



<h2 class="wp-block-heading" id="h-research-in-non-european-populations">Research in Non-European Populations</h2>



A large study published recently in PLoS Genetics showed systematically that genetic risk variants identified in Europeans are not representative of African Americans. Looking at more than 10,000 African American men, these researchers found that only half of the European risk variants were associated with prostate cancer in their study group. Even when the same region of the genome was associated with prostate cancer in both populations, the exact location or variant often differed.



As the PLoS study illustrates, findings from one population can’t simply be applied to other populations, emphasizing the need for more research in different populations.



<a href="https://www.nature.com/ng/journal/v43/n6/full/ng.839.html" target="_blank" rel="noopener">A recent study</a> published in Nature Genetics, identifying a new risk variant associated with prostate cancer in African Americans, is an essential step in the right direction, but even more studies are needed. The incredibly high rate of prostate cancer in African American men illustrates how crucial it is to deepen our understanding of prostate cancer, specifically in African Americans. Changing research generally to focus on more diverse groups has the potential to improve how we treat and prevent disease in all populations.



<h2 class="wp-block-heading" id="h-diversity-in-research">Diversity in Research</h2>



At 23andMe, we recognize that some of the biggest impacts in healthcare will come from changing how research is done. We recognize areas where traditional research models are failing and are committed to engaging patients, scientists, and everyday consumers to make a difference.



23andMe’s innovative research platform has already transformed research in &nbsp;Parkinson’s disease, and it can do the same to accelerate research in diverse populations. Keep looking for upcoming projects from 23andMe that focus on research where it is needed most!

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