A large new study by a team of international researchers has identified shared genetic associations between irritable bowel syndrome and mental health conditions such as anxiety and depression.
The study, published in the journal <a href="https://www.nature.com/articles/s41588-021-00950-8">Nature</a>, used data from more than 50,000 people with irritable bowel syndrome (IBS) and found that its symptoms may be caused by the same biological processes that trigger anxiety, depression, and insomnia.
<h6>Shared Genetic Origin</h6>
While the <a href="https://www.cam.ac.uk/research/news/large-scale-genetic-study-reveals-new-clues-for-the-shared-origins-of-irritable-bowel-syndrome-and">study</a> highlights the interconnections between the brain and digestive health, the researchers said that the findings don’t mean that anxiety or mood disorders cause IBS, or that IBS causes <a href="http://35.88.189.111/articles/new-23andme-report-on-anxiety">anxiety</a> and mood disorders. Rather, that certain genes are involved in the progression of both conditions.
“Although IBS occurs more frequently in those who are prone to anxiety, we don’t believe that one causes the other,” said<a href="http://www.med.cam.ac.uk/parkes/"> Professor Miles Parkes</a> of the University of Cambridge, who was a co-senior investigator and consulting gastroenterologist on this research. “Our study shows these conditions have shared genetic origins, with the affected genes possibly leading to physical changes in brain or nerve cells that in turn cause symptoms in the brain and symptoms in the gut.”
Past studies have shown that anxiety and depression often go hand-in-hand with IBS, but this study showed that these associations are because of actual shared genetic processes and not because someone may become depressed or anxious because of having IBS.
<h6>Common Conditions</h6>
IBS and anxiety are both quite common. In the U.S. estimates are that about<a href="https://www.nimh.nih.gov/health/statistics/any-anxiety-disorder"> 20 percent of adults</a> experience an anxiety disorder, meaning their anxiety has caused mild to severe impairment of their day-to-day lives. It is estimated that<a href="https://www.nature.com/articles/s41575-020-0286-8?proof=t#:~:text=Introduction-,Irritable%20bowel%20syndrome%20(IBS)%20is%20one%20of%20the%20most%20common,in%2010%20people%20globally1."> worldwide about one in 10 people</a> are affected by IBS. Symptoms of IBS include abdominal pain, bloating or bowel dysfunction significant enough to interfere with day-to-day activity. The causes of IBS are not well understood. But it tends to run in families and is more common in people who are prone to anxiety and other mood disorders.
For this study, the team of researchers from 40 different institutions identified different loci in six genes associated with IBS. Loci in four of those genes were also associated with mood and anxiety disorders. The researchers first used data from both the UK Biobank and the<a href="http://www.bionut.ki.se/groups/mda/bellygenes/index.html"> Bellygenes Initiative</a> — a worldwide study looking at genetic links to IBS. All the data came primarily from people of European ancestry, and the researchers used data from another 400,000 individuals who do not have IBS as a control group. The team then replicated their findings using de-identified data from 23andMe customers who consented to participate in research, which included more than 200,000 individuals with IBS and another 1.3 million who do not have the condition. The study also found a strong genome-wide correlation between the risk of IBS, and the risk for anxiety, neuroticism, and depression. Although IBS symptoms affect the gut and bowels, the genes associated with increased risk for IBS are not expressed there. Instead, they appear to have a clearer role in the brain, and possibly the network of nerves that serve the gut.
One of the paper’s lead authors,<a href="https://www.bdi.ox.ac.uk/Team/chris-eijsbouts"> Chris Eijsbouts</a>, of the University of Oxford, said the new research could aid in the development of new treatments in the future for these conditions.
&#8220;Even genetic changes that have only subtle effects on IBS can provide clues about pathways to target therapeutically,” Eiisbouts said. “Unlike the individual genetic changes themselves, drugs targeting the pathways they tell us about may have a considerable impact on the condition, as we know from other disease areas.&#8221;
Find the study in Nature <a href="https://www.nature.com/articles/s41588-021-00950-8">here</a>.

23andMe Blog

23andMe Blog Team

New Genetic Study Finds Links Between Gut Issues with Anxiety

On Veterans’ Day this year, Jessica Dudley will think a lot about someone she’s never met. An Army Veteran she’d searched for her whole life.



“I’m very proud of him. I think he’s my hero,” she said. “Even though I never had the chance to know him. I feel very close to him. I feel his presence.”



<figure class="wp-block-image alignright"><img loading="lazy" decoding="async" width="225" height="300" src="http://35.88.189.111/wp-content/uploads/2021/11/image0-3-scaled-e1668737947434-225x300.jpeg" alt="" class="wp-image-29279" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/11/image0-3-scaled-e1668737947434-225x300.jpeg 225w, https://blogcms.23andme.com/wp-content/uploads/2021/11/image0-3-scaled-e1668737947434-768x1024.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/11/image0-3-scaled-e1668737947434-660x880.jpeg 660w, https://blogcms.23andme.com/wp-content/uploads/2021/11/image0-3-scaled-e1668737947434-885x1180.jpeg 885w" sizes="auto, (max-width: 225px) 100vw, 225px" /><figcaption class="wp-element-caption">Sgt. Lee Eugene Dudley</figcaption></figure>



<h2 class="wp-block-heading" id="h-a-man-she-never-knew">A Man She Never Knew</h2>



For almost 50 years, she searched for her father, a man she’d never known. She didn’t even have his name. Born in Cam Ranh Bay in 1972, Jessica had a Cambodian mother and a father who was a US soldier. Her mother only told her about him that he was white, had a brace on one of his knees, and his name was “Lee.” Her mom told Jessica that he’d wanted to take them to the United States, but Jessica’s mom didn’t want to go.



It wasn’t easy growing up in Vietnam as an Amerasian kid. Her mother sent her off to live with a distant relative in Trà Vinh, a city far to the south. On top of that, she went blind when she was very young, adding to all the things that set her apart from everyone else around her.



“I woke up one morning and could not see,” Jessica said. “It was after the war and being an Amerasian kid&#8230;no one really cared.”



<h2 class="wp-block-heading" id="h-coming-to-america">Coming to America</h2>



She made do. However, when Jessica turned 17, she immigrated to the United States alone and did not speak English. 



She ended up in New York City, where she was taken in for a short time by a foster care family while attending a school for the blind. What followed was a short-lived marriage and three kids. She worked, raised her children, and made a living as a massage therapist. But she never stopped searching for her father.



Then, a few years ago, her boyfriend gave her a gift, a 23andMe kit.



It took a while for Jessica to see how priceless his present had been.



“When my result came back, a woman named Lisa was predicted to be my first cousin,” Jessica said.



<h2 class="wp-block-heading" id="h-exploring-her-23andme-matches">Exploring her 23andMe Matches</h2>



Jessica sent her a message, and Lisa quickly sent her a message back.



“When I got Lisa’s message, it felt like someone had just given me a million dollars.”



<figure class="wp-block-image aligncenter"><img loading="lazy" decoding="async" width="640" height="480" src="http://35.88.189.111/wp-content/uploads/2021/11/Corrine-Lisas-twin-Jessica-Lisa-1-rotated-e1679007720908.jpeg" alt="" class="wp-image-29277" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/11/Corrine-Lisas-twin-Jessica-Lisa-1-rotated-e1679007720908.jpeg 640w, https://blogcms.23andme.com/wp-content/uploads/2021/11/Corrine-Lisas-twin-Jessica-Lisa-1-rotated-e1679007720908-300x225.jpeg 300w" sizes="auto, (max-width: 640px) 100vw, 640px" /><figcaption class="wp-element-caption">Lisa, center, with her twin cousins Corine on the left and Lisa on the right.</figcaption></figure>



She messaged Lisa sharing her story with her, asking if she was related to a man named “Lee.” Lisa thought she meant the last name of “Lee” and she didn’t know anyone in her family with that last name. She wished Jessica the best and their messages stopped there.



However, about a year later, Lisa reread Jessica’s message. It was clear they were closely related, and so she talked to her mom, telling her she didn’t know how to help since there was no one in the family with the name “Lee.” Her mom said they didn’t have anyone with that as a last name, but one of her uncles’ first names was Lee.



<h2 class="wp-block-heading" id="h-uncle-gene">Uncle Gene</h2>



Lisa had known her favorite uncle as Uncle Gene. She didn’t know his first name was “Lee Eugene.” Quickly she was back in communication with Jessica and shared photos of her uncle, the man who was Jessica’s biological father, Sgt. Major Lee Eugene Dudley died in 2005. Jessica has a computer program that can describe a photo, and she’d listen to the description of each photo her cousin Lisa shared of her dad that detailed the uniform, the close-cropped light brown hair, blue eyes, the square jaw, and the medals. He’d been so proud of that uniform that after he’d retired, he’d asked his niece if she’d mind him wearing his uniform to her wedding.



In turn, Jessica shared photos of herself with her newfound biological family, and immediately, they saw the resemblance between the cousins. Jessica looked so much like her father’s mother, and she shared the same slim, long-limbed build as her cousins. Lisa and her twin sister Corine are also Amerasian but half-Japanese. Jessica looks like their sister.



<figure class="wp-block-image alignright"><img decoding="async" src="http://35.88.189.111/wp-content/uploads/2021/11/Jessica-at-Sand-Hill-Cemetery-1-300x225.jpeg" alt="" class="wp-image-29276"/></figure>



<h2 class="wp-block-heading" id="h-getting-to-know-more-about-her-father">Getting to Know More About Her Father</h2>



More importantly, Jessica learned about her father. He had no other children. He’d served four combat tours of duty in Vietnam, as well as in the Dominican Republic and Grenada. He’d risen to the highest enlisted ranks as a sergeant major in the infantry and served in the 82nd Airborne. He’d been awarded a silver and bronze star with ‘V’ and oak leaf, a recognition for the medals received in combat for valor and heroism. He received a Purple Heart for being wounded in combat. He also had a meritorious service medal for his time in combat. Jessica’s mother had met him after he’d been shot in the leg, hence the brace. Duty and service were essential to him, and he told his family that he’d never married because he didn’t want to burden a wife with that kind of life. Even when he retired after 30 years of service, he taught ROTC first at a college in Oklahoma and then at a high school in North Carolina.



She was sad that he’d died before she could meet him, but learning all this about her father gave her a sense of pride and belonging. She changed her last name to “Dudley.” And even though it was during the pandemic, she drove from her home in Connecticut to Fort Bragg, North Carolina, where her father is buried. She found his gravestone and ran her fingers over the inscription, name, rank, and birth and death dates. She placed flowers there and at the grave of one of her friends, a fellow soldier with whom he served. She opened a bottle of his favorite cognac and poured a bit on each grave.



“I’d waited so long to find him, so the least I could do was go to his grave,” Jessica said. “I’m very proud of my father even though I didn’t ever meet him.”



Jessica has met her cousins and plans to move to the West Coast to be closer to them.



“I feel so complete,” she said. “I feel I’m home. I feel like I belong.”

A photo of Jessica at Sand Hill Cemetery touching her birth father's gravestone.

A Veterans’ Day Story From 23andMe

Editor&#8217;s note: A previous version of this blog post had an error in the HLA table, which has been corrected in this version.
By Janie Shelton, Ph.D., and Daniella Coker, MPH*
As part of 23andMe’s ongoing study into COVID-19, our scientists have recently looked at how people <a href="https://blog.23andme.com/23andme-research/covid-19-vaccine-reactions/">react differently to different vaccines</a>, noting that those who previously had COVID-19, as well as women and younger people reacted the strongest to the vaccine.
Following up on that data, we also wanted to better understand whether genetics could help explain those differences and whether that could help us better understand the virus. We found that some variants in a complex of genes involved in immune response are associated with being more likely to have a strong reaction to the vaccine and some make it less likely.

<h6>Participating in COVID-19 Research</h6>
Before we go into details it’s important to note that this kind of study is possible because millions of individuals have already been vaccinated. Among them are a large number of 23andMe customers who have consented to participate in research. That has allowed our scientists to quickly explore how genetics plays a role in both the <a href="https://www.nature.com/articles/s41588-021-00854-7">susceptibility and severity of COVID-19</a>. We’ve also looked at other aspects of the pandemic like its impact on <a href="https://blog.23andme.com/23andme-research/covid-impact-on-sleep/">sleep</a>, <a href="https://blog.23andme.com/23andme-research/stepping-back-up-amid-covid-19/">physical activity</a>, and how it has <a href="https://blog.23andme.com/23andme-research/impact-disparities-of-covid-19/">hit some communities harder than others</a>. In this latest study, we looked at the factors associated with “reactogenicity”, or how noticeable a person’s response was to the vaccine. Some reported feeling nothing at all while others reported feeling very ill. This gave our scientists the data needed to study whether genetics could explain those differences.
To do that we conducted a genome-wide association study looking at these different responses to the vaccine between those who described feeling “Not at all sick” to those who felt “Extremely sick.”
<h6>Genetic Associations</h6>
We found a strong association between variations in the HLA genes — the human leukocyte antigen complex which is involved in regulating immune response. These genes encode for a number of proteins that make up the major-histocompatibility complex, which is on the frontline of your immune system&#8217;s infection recognition system. These results show that variations in the HLA complex are related to the degree to which one feels ill after vaccination.
First, it’s helpful to understand a bit about how vaccines work. These vaccines teach your immune system to recognize and respond to the virus that causes COVID-19. The mRNA vaccines (e.g. Pfizer/BioNTech &amp; Moderna) introduce genetic instructions to make a harmless protein that is unique to the virus. The other most common vaccine in circulation is the Johnson &amp; Johnson/Jansen vaccine, which uses a viral vector encoding the spike protein. In all three of these vaccines, your immune system develops a response to the spike protein of SARS-CoV-2, so your immune system can recognize the virus faster if you become exposed and eliminate it before you become severely ill.
<h6>Immune Response</h6>
Given how the vaccines work, why would we expect the HLA to be involved? The primary function of HLA molecules is to present foreign antigens on the cell surface in order to elicit an immune response. As such, the HLA plays a key role in presenting the proteins derived from the vaccine to the immune system.
But why do some people feel very sick from their COVID-19 vaccine, and others don’t feel sick at all?
Our findings suggest that prior history of COVID-19, younger age, female sex, and the type of HLA alleles you carry are strong predictors. Note that in the below table effect sizes below 1.0 decrease the likelihood of a reaction to the vaccine and the ones above 1.0 increase the likelihood (all reported effect sizes are statistically significant after correction for multiple tests).

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1008" height="368" src="https://blogcms.23andme.com/wp-content/uploads/2021/12/HLA-Alleles-React.jpg" alt="" class="wp-image-29352" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/12/HLA-Alleles-React.jpg 1008w, https://blogcms.23andme.com/wp-content/uploads/2021/12/HLA-Alleles-React-300x110.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/12/HLA-Alleles-React-768x280.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/12/HLA-Alleles-React-880x321.jpg 880w" sizes="auto, (max-width: 1008px) 100vw, 1008px" /></figure>
 
<h6>Long-haulers</h6>
Other studies have also found variation among populations for other alleles within the HLA that are associated with the severity of COVID-19. So for example, <a href="https://onlinelibrary.wiley.com/doi/full/10.1111/tan.14284">a recent study</a> by researchers at the Translational and Clinical Research Institute within Newcastle University found that an allele protective against severe COVID-19 symptoms in the HLA gene, at HLA-DRB1*04:01, was found at much higher frequency in people of Northwestern European ancestry. (Other studies have also found a genetic link to susceptibility to <a href="https://blog.23andme.com/articles/study-on-pneumonia">pneumonia</a>, also linked to genes associated with immune response.)
23andMe’s data on genetic associations related to different reactions to the vaccine offers other clues about the complexity of COVID-19. It is part of our on-going work to better understand the virus and the best approaches to fight it. Along with the workaround how genetic differences in immune response and blood type may play a role, our researchers are studying the long-term effects of the virus. We hope to look at so-called COVID-19 long-haulers to determine whether genetics can also explain why some individuals suffer health effects from the virus for weeks, months, and longer.
For more, you can go to our COVID-19 Information Center <a href="https://you.23andme.com/covid19-study/">here</a>.
<hr>
*The 23andMe COVID-19 research team includes: Adam Auton, Adrian Chubb, Alison Fitch, Alison Kung, Amanda Altman, Andy Kill, Anjali Shastri, Antony Symons, Catherine Weldon, Chelsea Ye, Jason Tan, Jeff Pollard, Jey McCreight, Jess Bielenberg, John Matthews, Johnny Lee, Lindsey Tran, Maya Lowe, Michelle Agee, Monica Royce, Nate Tang, Pooja Gandhi, Raffaello d’Amore, Ruth Tennen, Scott Dvorak, Scott Hadly, Stella Aslibekyan, Sungmin Park, Taylor Morrow, Teresa Filshtein Sonmez, Trung Le, and Yiwen Zheng.

A logo for 23andMe's COVID-19 Research Study

Janie Shelton

The Genetics of Reactions to COVID-19 Vaccines

We’re excited to share our refreshed <a href="https://www.23andme.com/about/consent/">Research Consent document</a> that governs how 23andMe conducts Research. Although we have not changed our research program or how we use participants&#8217; data, we reorganized the content of the Research Consent and greatly simplified the language. We made these updates for two reasons:
<h6>To be in compliance with updated research regulations: <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/04/cropped-23ANDME-LOGO.jpg" alt="" class="alignright wp-image-28236 size-medium" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/04/cropped-23ANDME-LOGO.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/04/cropped-23ANDME-LOGO.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2020/04/cropped-23ANDME-LOGO.jpg 270w, https://blogcms.23andme.com/wp-content/uploads/2020/04/cropped-23ANDME-LOGO.jpg 192w, https://blogcms.23andme.com/wp-content/uploads/2020/04/cropped-23ANDME-LOGO.jpg 180w, https://blogcms.23andme.com/wp-content/uploads/2020/04/cropped-23ANDME-LOGO.jpg 32w, https://blogcms.23andme.com/wp-content/uploads/2020/04/cropped-23ANDME-LOGO.jpg 512w" sizes="auto, (max-width: 300px) 100vw, 300px" /></h6>
Our revisions align with updates to a federal regulation known as the Common Rule, which governs how human subjects research is conducted in the United States. The updated Common Rule aims to make consents more clear and easier to read, and to better help people make decisions about research participation. Our revised Research Consent is in compliance with the current version of the Common Rule.
<h6>To respond to customer feedback:</h6>
We recently asked our customers for feedback on our Research Consent. Based on their feedback we made the following changes:
<ol>
<li aria-level="1">We shortened the Key Information Summary at the top of the document.</li>
<li aria-level="1">We highlighted topics most important to our customers in the Key Information Summary&nbsp;</li>
<li aria-level="1">We simplified the language throughout the Research Consent.&nbsp;</li>
<li aria-level="1">We added detailed information about how participant data contributes to 23andMe Research.</li>
</ol>
If you look at the new consent, you may notice the updated Key Information Summary, the more concise and simple language, and the real-world examples of research discoveries made possible by participants who shared their information. We believe that the new version will enable our customers to more easily find information that may help them decide whether or not to participate in 23andMe Research.
We hope you see these changes as improvements and can find within the document the answers to your questions about 23andMe Research.
If you have questions about these revisions you can contact the 23andMe Research Team at <a href="mailto:hpa@23andMe.com">hpa@23andMe.com</a>.

Updates to Improve our Research Consent

Scientists with 23andMe and Google have collaborated to develop an imputation reference panel using 23andMe’s <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/">African American Sequencing Project </a>to help expand diversity in genetic health research. This new reference panel enables researchers to more accurately identify associations between genetic variants and traits or health conditions within Black Americans and other non-European populations.
&#8220;This work will help address disparities in genetic research, as researchers outside of 23andMe will be able to use this data to inform their studies,&#8221; said Jared O&#8217;Connell, a 23andMe senior scientist and lead author for the paper. 
<h6>Expanding Analysis</h6>
All participating individuals were contacted and specifically consented to sharing their sequencing data via <a href="https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001798.v2.p2">dbGaP</a> with qualified researchers.
An imputation reference panel consists of genome-wide variation discovered through whole-genome sequencing in a set of individuals. Researchers often use such reference panels to perform genotype imputation. Unlike whole-genome sequencing, genotyping microarrays look at hundreds of thousands of sites that are known to vary between individuals, not the entire genome. Hence, there are hundreds of millions of such sites that are not assayed by microarrays. 
Genotype imputation is the process of inferring genotypes at many of these missing sites. Much like a code breaker filling in missing letters in a message, scientists — using algorithms and data from a whole-genome sequenced reference panel — can predict, or impute, the missing letters of genetic data. This allows large-scale genetic studies to expand the number of genetic variants that can be analyzed. But currently, most publicly available reference panels only include people of European ancestry, which limits their applicability to other populations.
<h6>A Reference Panel for Research</h6>
In this effort, described in <a href="https://www.nature.com/articles/s42003-021-02777-9">“A population-specific reference panel for improved genotype imputation in African Americans”</a> published this month, the teams built an imputation reference panel with high levels of African ancestry. It is the first peer-reviewed publication derived from 23andMe’s <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/">African American Sequencing Project. </a> The panel includes genetic sequence data from more than 2,000 volunteers residing in the US, who identified as Black. With their consent, 23andMe created a reference dataset for research that consists of a de-identified reference panel and associated raw sequencing data. By including more individuals with non-European ancestry within the panel, imputation in non-Europeans is improved. For comparison, the commonly-used <a href="http://www.haplotype-reference-consortium.org/">Haplotype Reference Consortium</a> panel consists of 27,166 individuals which are predominantly of European descent. There is a subset of 2,001 individuals in that panel included from <a href="https://www.internationalgenome.org/">the 1000 Genomes Project</a>, and just 661 of these have substantial African ancestry.
&#8220;This biased reference panel composition generally leads to substantially poorer imputation quality for non-Europeans than for Europeans,&#8221; according to <a href="https://www.nature.com/articles/s42003-021-02777-9">the paper</a>. 
<h6>DeepVariant</h6>
Additionally, the team leveraged Google&#8217;s state-of-the-art variant caller, <a href="https://github.com/google/deepvariant">DeepVariant.</a> This allowed the researchers to further improve both the accuracy and richness of genetic variation in the reference panel. DeepVariant was compared with two versions of the popular GATK caller. It was shown to have a more accurate single sample calling performance as well as generate better performing imputation panels. Extensive comparisons of genotype refinement and phasing software were also conducted to establish a useful pipeline for creating imputation panels with DeepVariant. 
&#8220;The best practices for creating imputation panels we outline here are broadly applicable for improving imputation quality in non-European populations,&#8221; said senior author and Google staff software engineer Cory McLean.
This reference dataset was uploaded to the National Institute of Health&#8217;s dbGaP. It has already helped researchers studying conditions such as lymphoma, neurodegenerative disease, and cardiovascular disease. The reference dataset is also available to other qualified and vetted genetic scientists. It is meant to help expand research in Black Americans and other populations.
The team also published a blog post about the research <a href="https://healthcommunity.nature.com/posts/a-new-resource-for-african-american-genetics">here</a>.

Helping Expand Diversity in Genetic Health Research

By Anne Greb, MS, CGC, 23andMe Lead, Medical Education
For Genetic Counselor Awareness Day this year, we want to celebrate the important role genetic counselors play in healthcare, but we also want to educate people about how genetic counselors can help them sort through their test results and family health history in making important medical decisions.
<div id="attachment_26688" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26688" src="https://blog-api.23andme.com/wp-content/uploads/2018/11/Anne-Greb-300x259.jpg" alt="" class="wp-image-26688 size-medium" width="300" height="259" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/11/Anne-Greb-300x259.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/11/Anne-Greb.jpg 629w" sizes="auto, (max-width: 300px) 100vw, 300px" />Anne Greb, MS, CGC, 23andMe Lead, Medical Education</div>
A future in which genetic and genomic health information is part of clinical care is around the corner, offering hope for more personalized medicine and disease prevention. It will be genetic counselors who help us get there. 
<h6>What We Do</h6>
The simplest description of what we do (I’m a genetic counselor) is to help people assess risk in making critical decisions about their health. These could be decisions about such things as cancer treatment, or pregnancy, or rare disease interventions. While genetics is part of the equation, it’s by no means the only thing a genetic counselor considers. We are often involved before a genetic test is done. Even helping a person decide whether testing is right for them. Often a genetic counselor is needed right at a critical decision point in a person’s life. A genetic counselor has the training and understanding to meet the gravity of those moments. 
Unfortunately, there are too few genetic counselors to meet this growing demand. Over the next decade that demand is only going to get bigger. A recent estimate projects the field is going to grow by <a href="https://www.bls.gov/ooh/healthcare/genetic-counselors.htm">more than 25 percent,</a> according to the Bureau of Labor Statistics. 
<h6>What&#8217;s to Come</h6>
In many ways, this big increase in demand is what we anticipated long ago with the mapping of the human genome. Now more than ever genetic discoveries and new technologies are being used to diagnose rare diseases, or help tailor pharmaceutical approaches to treatment, or identify disease risk. On top of that, the widespread use of direct-to-consumer genetic testing has encouraged more and more people to learn about their own genetic predispositions, prompting discussions with their healthcare providers. 
While we await current efforts to build the ranks of genetic counselors, it’s these healthcare providers who are left to discuss genetic issues with patients. Right now, a lack of knowledge and training for those providers is often an obstacle, so providing genetic education and resources specifically for medical professionals is vital to help ensure that genetics becomes a part of clinical care.
<h6>Medical Education</h6>
That’s part of my role as a genetic counselor and lead of medical education at 23andMe both within the company, but also externally. I’m often engaging with other healthcare professionals to figure out the best way to incorporate genetics into clinical care. 
I’m not alone. Indeed, in a recent National Society of Genetic Counselors Professional Status <a href="https://www.nsgc.org/Portals/0/Docs/Policy/PSS%20Executive%20Summary%202020%20FINAL%2005-03-20.pdf">Survey</a>, 45 percent of genetic counselors reported that education and training played a significant role in their job-related activities. While education is by no means the only thing we do as genetic counselors, it’s an important part of the work. And as a genetic counselor at 23andMe, I can see how this surge in direct-to-consumer genetic testing presents a teachable moment. We know from studies that about 30 percent of direct-to-consumer genetic testing customers ask their healthcare providers about their results.<a id="f1" href="#a1">[1]</a>,<a id="f2" href="#a2">[2]</a> This offers those providers an opportunity to engage with their patients in important discussions, and use these moments to update and discuss family health information. Primary care providers who often have long-standing relationships with patients may be best positioned to offer support when patients discover unexpected findings as a result of one of these tests, and they can refer them to genetic counselors to help navigate the next steps.
So in recognition of Genetic Counselor Awareness Day this year, let&#8217;s consider the work that genetic counselors do to support not just consumers of direct-to-consumer genetic testing, but healthcare providers as well. 
<h6 class="footnotes">References:</h6>
<footer class="footnotes"><code style="display: none;"> </code><code style="display: none;"> </code> <a id="f1" href="#a1">[1]</a> van der Wouden CH, et al. <a href="https://www.genomes2people.org/wp-content/uploads/2016/02/Van-Der-Wouden-et-al-2016.pdf">&#8220;Consumer Perceptions of Interactions With Primary Care Providers&#8221; </a> Ann Intern Med (2016)
<footer class="footnotes"></footer>
<footer class="footnotes"></footer>
</footer>
<footer class="footnotes"><code style="display: none;"></code> <a id="f2" href="#a2">[2] </a> Vassey JL, et al. <a href="https://www.science.org/doi/abs/10.1126/scitranslmed.aaa2401">&#8220;How to know when physicians are ready for genomic medicine&#8221;</a> Science Translational Medicine (2015) </footer>

Genetic Counselor Awareness Day, A Perspective

In genetics, pedigrees are essential for many more reasons than you might think.
It is not just about creating family trees or seeing how family members are related. Pedigrees are also helpful for studying diseases and understanding broader questions about family structure and how people marry and migrate. They can also be used to discover facts about long-dead ancestors, such as their phenotypic traits and where they came from.
<h2>A New Method Called Bonsai</h2>
Researchers at 23andMe recently created a new method for inferring large human pedigrees. The American Journal of Human Genetics published this new method, dubbed Bonsai, which uses a new algorithm to build very large pedigrees. These new methods can quickly and efficiently assemble small pedigrees into a larger family tree that shows degrees of separation between individuals.
<div id="attachment_29249" style="width: 1034px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-29249" class="wp-image-29249 size-large" src="http://35.88.189.111/wp-content/uploads/2021/10/F1.large_-1024x434.jpg" alt="An illustration of some of what goes into the Bonsai method for creating very large human pedigrees." width="1024" height="434" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-1024x434.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-300x127.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-768x325.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-880x373.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_-1180x500.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/10/F1.large_.jpg 1280w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />An illustration of some of what goes into the Bonsai method for creating very large human pedigrees.</div>
These pedigrees can also help in studying the link between genetics and disease. Pedigrees can be helpful, especially when a disease is rare. In Genome-Wide Association Studies — a common method for discovering the genetic factors related to a common phenotype or disease — scientists must thin their sample to remove close relatives. Or they must leverage known relationships to increase the number of subjects that can be included, thus the statistical power for detecting associations. If full pedigrees are known, it opens the door for using a broader range of statistical methods. This, in turn, can be used to detect disease association and discover so-called de novo mutations that occurred for the first time in a family member.
<h2>Bridging Gaps</h2>
The ability to construct extensive pedigrees is also helpful for genealogy. In particular, the ability to use genetic data to infer pedigrees can help
<div id="attachment_29247" style="width: 228px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-29247" class="wp-image-29247 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-218x300.jpg" alt="" width="218" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-218x300.jpg 218w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-768x1056.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-745x1024.jpg 745w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-640x880.jpg 640w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-858x1180.jpg 858w, https://blogcms.23andme.com/wp-content/uploads/2021/10/Ethan-Jewett3385-scaled.jpg 1862w" sizes="auto, (max-width: 218px) 100vw, 218px" />Ethan Jewett, Ph.D., a 23andMe population geneticist.</div>
bridge gaps in historical records and help detect places where the records may be inaccurate. Using the reverse rules of Mendelian inheritance makes it possible to assign present-day alleles to the ancestors from whom they came, thus revealing the genotypes carried by long-dead ancestors. When these alleles are associated with phenotypes or ancestry from a particular population, it&#8217;s possible to make educated guesses about the physical traits of ancestors. One could use the same method to find out where they came from.
23andMe’s new Bonsai method improves existing methods for building extensive pedigrees and opens up other possibilities, said Ethan Jewett, Ph. D., a 23andMe population geneticist working on probabilistic methods and lead author of the paper.
“Big pedigrees make it possible to explore questions about family structure,&#8221; Ethan said. &#8220;For instance, how common a certain type of relationship is in a given population, like double cousins.”
<h2>Large Pedigrees</h2>
Pedigrees inferred from DNA allow researchers to examine other issues. They could help determine how often a self-reported pedigree agrees with an inferred pedigree. In other words, they can tell us how well people know their family trees. The paper found several instances of self-reported family trees with at least one misidentified relationship.
There are other larger population-level insights researchers can learn from these large pedigrees. For example, the method allows researchers to determine the ancestry composition of the average pedigree in the United States, traced back several generations. Another example of the process could help answer questions like how often people have kids with people outside of their cultural or ancestral group. This work can also help improve our understanding of the age distributions for different types of relationships, such as parent-child, or grandparent-grandchild, or first cousins. That ultimately can help in 23andMe’s ability to predict relationships. Understanding those relationships can also offer insights into human history and disease.
This new method improves the efficiency and accuracy of building large and complex human pedigrees.
You can read more about the method <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(21)00349-9">here</a>.

A New Method for Creating Large Human Pedigrees

23andMe has been included in another “Best” list, this one for its leadership. 
In Inc. magazine’s first annual Best-Led Companies list, 23andMe was included after being evaluated on a 12-point measure of management excellence. The company was one of 250 on <a href="https://www.inc.com/best-led-companies/2021">the list</a> that honors both public and private U.S. companies with revenues that range from $50 million to $2 billion. In total the companies employ more than 35 million people or about one in four workers in the US. 
“This inaugural list of companies represents the remarkable mid-sized companies, both public and private, often founder-led, that are at the vanguard of reinventing American business,” says Scott Omelianuk, editor-in-chief of Inc. magazine. “With their leadership, all business will benefit from an exciting, competitive future full of possibilities.”
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-1024x576.jpg" alt="" class="aligncenter wp-image-29267 size-large" width="1024" height="576" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-1024x576.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1-1180x664.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/11/IncBestLedCompanies_SocialImage1.jpg 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
To be considered for the list, each company had to fill out an application answering questions about its performance, executive team, and leadership. Applicants were then analyzed via an algorithm that identified the very best companies according to their leadership teams’ superlative accomplishments in four key areas: performance and value creation; market penetration and customer engagement; talent; and leadership team.
To see the complete list, go <a href="https://www.inc.com/best-led-companies/2021">here</a>.
The honorees will be featured in the November issue of Inc. magazine, which is available online at<a href="https://www.inc.com/magazine"> https://www.inc.com/magazine</a> and will be on newsstands beginning November 9, 2021.
 
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23andMe Named in Inc.’s First-Annual Best-Led Companies

This week 23andMe made Fast Company’s first annual list of “Brands that Matter,” an award honoring companies and nonprofits with a mission or ideals that have had a cultural impact and are relevant and authentic.
This new award singles out <a href="https://www.fastcompany.com/brands-that-matter/2021">95 organizations </a>that, like 23andMe, have inspired people and given them compelling reasons to care about innovation, or social issues, cultural issues, the environment, or their fellow humans. Among those on the list are not just massive multinational conglomerates, but also small companies and nonprofits. All of them have forged an emotional or meaningful connection with people. All were judged on their relevancy, cultural impact, ingenuity, and business innovation. 
“Fast Company is excited to highlight companies and organizations that have built brands with deep meaning and connections to the customers they serve,” said Stephanie Mehta, editor-in-chief of Fast Company. “At a time when consumers are holding companies to very high standards, businesses have much to learn from these brands that have garnered respect and trust.”<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-1024x538.jpg" alt="" class="aligncenter wp-image-29242 size-large" width="1024" height="538" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-1024x538.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-300x158.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-768x403.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-880x462.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free-1180x620.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/10/BTM_Facebook_Shared-Image_Free.jpg 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
<h6>Lead with Science</h6>
It’s that trust that is probably most important to 23andMe’s brand, said Tracy Keim, Vice President of Consumer Marketing and Brand at 23andMe. 
“It started with Anne Wojcicki, (23andMe’s CEO and Co-Founder),” Tracy said. “She co-founded 23andMe to help people — to be a brand that made a difference in people’s lives — we were a brand born out of purpose, not profit.” 
23andMe is also a brand driven by science. And Fast Company pointed to two of our more recent very large scientific initiatives in singling out 23andMe for this award. 
The first was a study using genetics to look at the human impact of the <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(20)30200-7">transatlantic slave trade</a>, as part of the largest study to date of people with African ancestry in the Americas. The second is an ongoing study on the genetics associated with differences among people in <a href="https://you.23andme.com/covid19-study/">susceptibility to and severity from COVID-19</a> that involved more than a million research participants. Several findings from that study have already been published or shared, and our researchers are currently investigating the genetics of COVID-19 “long-haulers.”
“It’s exciting to see this list of brands making a difference,” said Tracy. “We’re all interested in solutions through action, not just advertising. One of 23andMe’s core values is to ‘lead with science.’ DNA data can tell us so much about problems we confront today and in the future — whether it’s studying COVID-19 or our fraught racial history, or important health issues — our team of researchers have big hearts and open minds and go where the science leads them.”
<h6>Mission Driven</h6>
It’s been almost two decades since the mapping of the human genome, the most significant scientific breakthrough of our generation. 23andMe works to bring the power of genetic science to everyone. As a brand, 23andMe has always been mission-driven, focused on helping people access, understand, and benefit from the human genome. We created an industry offering people direct access to their genetic information, as well as an opportunity to participate in research if they choose. We share our research findings and ensure that those who participate in research know we’ve done it through solid science and innovation, but also with whimsy and a human touch. 
You can find a complete list of winners<a href="http://www.fastcompany.com/brands-that-matter/2021"> here</a>.
23andMe will be featured along with the other honorees in the November issue of Fast Company magazine, which is available online<a href="http://www.fastcompany.com/brands-that-matter/2021"> now</a> and will be on newsstands beginning November 2, 2021.
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