A look by researchers of 23andMe’s internal data from customers who consented to participate in research reveals that some gut health issues affect females differently than males and that these conditions have a bigger impact on people of some ethnicities than others.
The insights come from 23andMe internal data regarding two relatively common gut health conditions, irritable bowel syndrome (IBS) and diverticulitis. The findings confirmed what we already know about common gut health issues and their importance in overall health. It also highlights that genetics plays a big role in the likelihood of developing one of these conditions. 
The data shows that the prevalence of these conditions is more common within some ethnicities. Beyond that, certain genetic variants can increase an individual’s risk compared to others of the same ethnicity. Noting the role that ethnicity and genetics play would be important considerations in assessing an individual’s likelihood of developing either IBS or diverticulitis.
This snapshot of 23andMe data from customers who consented to participate in research looks at just two of the<a href="https://www.niddk.nih.gov/health-information/health-statistics/digestive-diseases"> many digestive conditions</a> related to gut health, but they are two conditions that impact millions of people worldwide. 
<h6>The 23andMe Data on IBS</h6>
In the case of IBS, estimates are that it impacts<a href="https://aboutibs.org/what-is-ibs/facts-about-ibs/"> between 25 and 45 million people</a> in the US alone, and it impacts females at a much higher rate. Symptoms often include abdominal pain, cramping, bloating, and changes in bowel function, including diarrhea, constipation, or both.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30700" src="http://35.88.189.111/wp-content/uploads/2022/11/ibs-by-age-and-sex.png" alt="" width="550" height="662" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/ibs-by-age-and-sex.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/11/ibs-by-age-and-sex-249x300.png 249w" sizes="auto, (max-width: 550px) 100vw, 550px" />
A study published in <a href="https://www.nature.com/articles/s41588-021-00950-8">Nature</a> in late 2021 found that IBS symptoms may be caused by the same biological processes that trigger anxiety, depression, and insomnia. It’s not that IBS causes anxiety or mood disorders but that certain genes are involved in the progression of these conditions. Several studies also indicate that these conditions impact females more than males.
According to data from 23andMe, females are about two and a half times more likely to develop the condition than males. (See figure that compares males and females with IBS by age.) While it’s well documented that<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175559/"> sex can impact the likelihood</a> of an individual’s likelihood of developing IBS, far less is known about the role genetics play in this common condition.
Perhaps even more than sex differences, ethnicity and genetics impacts the likelihood of developing IBS. According to new modeling done by 23andMe scientists, both genetics and ethnicity have a big impact on the likelihood of an individual being diagnosed with IBS. In some cases, they present a much bigger risk than previously published non-genetic factors.
In looking at ethnicity, people with largely Latino or largely European ancestry have the highest likelihood of developing IBS compared to those of other ethnicities. For example, people with mostly European ancestry are almost three times more likely to develop IBS than those of mostly East Asian ancestry. 
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30702" src="http://35.88.189.111/wp-content/uploads/2022/11/prevelance-of-ibs-by-ethnicity.png" alt="" width="550" height="452" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/prevelance-of-ibs-by-ethnicity.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/11/prevelance-of-ibs-by-ethnicity-300x247.png 300w" sizes="auto, (max-width: 550px) 100vw, 550px" />
<h6>Statistical Modeling</h6>
When researchers stratified the data and looked at individuals with a higher genetic likelihood of developing IBS — based on statistical modeling that used more than 12,000 genetic markers associated with IBS — compared to those with the least likelihood, the differences were stark. 
For example, people with predominantly Latino ancestry who also were in the highest genetic likelihood* category for IBS are four and a half times more likely to be diagnosed with IBS than Latinos with the lowest genetic likelihood.** If you look at people with primarily European ancestry who are also in that higher genetic likelihood category,* they were more than three and a half times more likely to be diagnosed with IBS than people of European ancestry at the lowest genetic likelihood.**
Why is this distinction important?  
Because it shows the outsized impact that genetic factors play on the likelihood of IBS. If you were to graph the polygenic risk for IBS, you’d see a bell curve distribution. Most people would have an average risk or be in the middle of that curve. But at the ends of this curve would be those with the least risk and the most risk.
For those with the highest genetic likelihood* — in the top five percent — the odds that they may develop IBS are quite high when compared to those at the lowest likelihood.** That information on their genetics could be very important for them and their provider in managing their health.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30703" src="http://35.88.189.111/wp-content/uploads/2022/11/odds-of-developing-ibs-among-those-at-highest-genetic-risk.png" alt="" width="550" height="764" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/odds-of-developing-ibs-among-those-at-highest-genetic-risk.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/11/odds-of-developing-ibs-among-those-at-highest-genetic-risk-216x300.png 216w" sizes="auto, (max-width: 550px) 100vw, 550px" />
<h6>23andMe Data on Diverticulitis </h6>
23andMe’s data on diverticulitis confirms some of what we already know but also offers up a few surprises.
As with IBS, both ethnicity and genetics play an important role in the likelihood of developing diverticulitis. While it is relatively common, many people don’t know much about diverticulitis.
It occurs in the intestinal tract, where weak sections of the intestines lead to small bulges or pouches that become inflamed. These pouches, most often found in the large intestine (also called the colon), are called “diverticula.” They are common, especially as we age, but do not cause problems.
It’s estimated that more than half of people in the United States over 60 have diverticula and most likely never have any issues. But fewer than five percent of those individuals will develop inflammation in these pouches, a condition called “diverticulitis,” according to the<a href="https://www.niddk.nih.gov/health-information/digestive-diseases/diverticulosis-diverticulitis/definition-facts"> National Institutes of Health.</a> This can lead to symptoms such as abdominal pain, vomiting, fever, constipation, or diarrhea. More serious complications, such as blockages or perforations, can lead to hospitalization.
<h6>Diverticulitis and Ethnicity</h6>
While females were more likely to have been diagnosed with diverticulitis, the difference between males and females was less profound than that for IBS. And in the case of diverticulitis, the likelihood of developing the condition increases considerably as people age, according to the data.
People of European ancestry had the highest prevalence for diverticulitis and those of South Asian ancestry the lowest among individuals we studied.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30713" src="http://35.88.189.111/wp-content/uploads/2022/09/prevalence-of-diverticulitis-by-age-and-sex.png" alt="" width="550" height="662" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/prevalence-of-diverticulitis-by-age-and-sex.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/09/prevalence-of-diverticulitis-by-age-and-sex-249x300.png 249w" sizes="auto, (max-width: 550px) 100vw, 550px" />
Looking at genetic likelihood of developing the condition, 23andMe data indicates that people with North African ancestry and Western Asian ancestry (Arabs, Kurds, Persians, and people from Anatolia for example) with the highest genetic risk* for being diagnosed with diverticulitis are about seven times more likely to be diagnosed with diverticulitis than those with the lowest genetic risk.**  
People of mostly European ancestry with the highest genetic risk* are five and a half times more likely to be diagnosed with diverticulitis based on their genetics than those with the lowest genetic risk.** People with mostly East or Southeast Asian ancestry who are at the highest genetic risk* for diverticulitis are five times more likely to be diagnosed with diverticulitis than those with the lowest genetic risk.**
<h6>Wrapping Up</h6>
This snapshot of 23andMe data on two gut health conditions reveals something many haven’t fully understood. It&#8217;s not just that genetics plays an important role in risk, but a person&#8217;s genetics together with their ethnicity matter. 
*Highest risk category: 5% of a given ethnicity, for example, Latino, with the highest genetic risk of being diagnosed with a condition
**Lowest risk category: 5% of a given ethnicity with the lowest genetic risk of being diagnosed with a condition.

23andMe Blog

23andMe Blog Team

Some Data to Digest About Gut Health

An interest in genetics, a passion for patient care, and a graduate school epiphany put Amy Curry Sturm on the road to 23andMe, where she recently assumed the newly created role of Director of Population Health Genomics.



&nbsp;We caught up with Amy to learn more about her career path, her plans, and why the phrase “no dead ends” has become her new favorite mantra.



The following is an edited excerpt of our conversation.



<h6 class="wp-block-heading" id="h-what-inspired-you-to-pursue-a-career-in-genetics-and-genomics">WHAT INSPIRED YOU TO PURSUE A CAREER IN GENETICS AND GENOMICS?</h6>



I was inspired from a very early age to go into a career where I could dedicate myself to keeping people healthy and preventing disease.



My background as an undergraduate was pre-med because I was very interested in medicine and disease prevention, but I also knew I never wanted to be a doctor.



I then went through a Ph.D. program in pathology, thinking I’d go into some area of research to prevent disease.&nbsp;



But I realized that I didn’t want to be working at a bench in a laboratory; I wanted to work more directly with patients and deliver amazing scientific discoveries directly to them.



<figure class="wp-block-image size-larger"><img loading="lazy" decoding="async" width="880" height="587" src="http://35.88.189.111/wp-content/uploads/2022/08/Amy-in-Australia-880x587.jpeg" alt="Amy in Australia" class="wp-image-30057" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-880x587.jpeg 880w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-300x200.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-768x512.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-1024x683.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-1180x786.jpeg 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia.jpeg 2048w" sizes="auto, (max-width: 880px) 100vw, 880px" /><figcaption>A quick stop on the southwestern coast of Australia before presenting at the Australian Society of Human Genetics and Genetic Counselors Meeting.</figcaption></figure>



Luckily, I found genetic counseling —a very young profession in the 1990s — and pursued my graduate degree in genetic counseling.



With that degree, I’ve been able to dedicate my career to using genetic information to prevent disease. And that’s what drives me, trying to utilize all that information to keep people healthy from a very young age. So I’m excited to do that now at 23andMe!



<h6 class="wp-block-heading" id="h-what-are-you-focused-on-at-23andme">What are you focused on at 23andMe?</h6>



My role at 23andMe is Director of Population Health Genomics. I sit within the product organization, but I plan and hope to work across a lot of different areas within 23andMe.



My role involves working with the product team to look for ways to bring 23andMe&#8217;s vision and commitment to integrating genetic information into clinical care for patients.&nbsp;



One thing I really love that I keep hearing the product and design teams say is that there are “no dead-ends.”&nbsp;



That’s become a mantra as we build everything out. We want to truly give our customers no dead-ends;&nbsp; we want them to have the next steps they need to take action based on their genetic information to keep them as healthy as possible.



<h6 class="wp-block-heading" id="h-how-does-your-new-role-differ-from-your-past-roles-and-responsibilities">How does your new role differ from your past roles and responsibilities?</h6>



It’s extremely different from anything I’ve ever done.&nbsp; This is my first time working for a&nbsp; genetics company. My past experience has been working for major healthcare institutions.



I started as a genetic counselor in 2002, so over the past 20 years, I’ve worked at a large children’s hospital, a large university medical center (Ohio State), and then a large integrated healthcare system (Geisinger).&nbsp;



<figure class="wp-block-gallery has-nested-images columns-default is-cropped wp-block-gallery-1 is-layout-flex wp-block-gallery-is-layout-flex">
<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="685" height="919" data-id="30054" src="http://35.88.189.111/wp-content/uploads/2022/08/Sturm-Family-Summer-2022-e1661968656481.jpeg" alt="Sturm Familly Photo" class="wp-image-30054" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Sturm-Family-Summer-2022-e1661968656481.jpeg 685w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Sturm-Family-Summer-2022-e1661968656481-224x300.jpeg 224w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Sturm-Family-Summer-2022-e1661968656481-656x880.jpeg 656w" sizes="auto, (max-width: 685px) 100vw, 685px" /><figcaption> Serendipitous color coordination called for a family photo! Amy with her husband Jeff, son Jack, and daughter Stella. </figcaption></figure>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1365" height="1827" data-id="30053" src="http://35.88.189.111/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485.jpeg" alt="Amy Halloween" class="wp-image-30053" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485.jpeg 1365w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-224x300.jpeg 224w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-768x1028.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-765x1024.jpeg 765w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-657x880.jpeg 657w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-882x1180.jpeg 882w" sizes="auto, (max-width: 1365px) 100vw, 1365px" /><figcaption>Amy and her husband dressed up for their Halloween Party. Amy went as her childhood favorite, Mary Poppins.</figcaption></figure>
</figure>



I’ve always worked within that healthcare space. I’ve had multiple different roles within those settings, ranging from taking care of patients and families directly as a clinical genetics counselor to leading large research initiatives and developing new programs from the ground up.



But I have always been industry-curious and interested in working within this space for a company like 23andMe.



It’s very different from anything I’ve ever experienced in my career, which is exciting! I love innovating and feeling like I’m in a cutting-edge space; I love building things from the ground up. So that motivated me to make the leap and finally enter an industry setting.&nbsp;



<h6 class="wp-block-heading" id="h-what-are-you-most-excited-to-work-on-as-you-look-to-the-future-1">WHAT ARE YOU MOST EXCITED TO WORK ON AS YOU LOOK TO THE FUTURE?</h6>



I’m extremely excited to have the opportunity to help build the future delivery of new product offerings from 23andMe.



I’m thrilled to help build a path for individuals on their health journey. They can come to 23andMe, get their DNA insights, and learn personalized, preventive, proactive recommendations for their health and actions they and their families can take. We can provide the next steps on that journey and can also now deliver telehealth services via Lemonaid Health, now part of the 23andMe family.&nbsp;



The goal is to bring genetics into the primary care setting to deliver more personalized care. That goal is front and center – it’s what excites me to wake up and get to work every day!

Amy Curry Sturm on Harnessing the Power of Genetic Information

By Brianne Kirkpatrick, MS, LCGC



In the fall of 2021, 23andMe announced its acquisition of Lemonaid Health, an online service that includes clinicians with unique knowledge and training in genetics-informed care.&nbsp;The latest news to come from this development is a new service, which will offer genetic report consultations for 23andMe Health + Ancestry customers, including 23andMe+ members.



As a genetic counselor working in the ancestry and at-home testing space, you might imagine I had a lot of questions about this! So I spoke with <a href="https://blog.23andme.com/education/genetic-counselor-awareness/">Anne Greb, Director, Clinical Genetics and Education</a>, to learn more.



<figure class="wp-block-image aligncenter"><img loading="lazy" decoding="async" width="629" height="543" src="http://35.88.189.111/wp-content/uploads/2018/11/Anne-Greb.jpg" alt="" class="wp-image-26688" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/11/Anne-Greb.jpg 629w, https://blogcms.23andme.com/wp-content/uploads/2018/11/Anne-Greb-300x259.jpg 300w" sizes="auto, (max-width: 629px) 100vw, 629px" /><figcaption class="wp-element-caption">Anne Greb, MS, CGC, 23andMe Lead, Medical Education</figcaption></figure>



<h6 class="wp-block-heading" id="h-virtual-consultation">Virtual Consultation</h6>



The first question I had for Anne was about the nature of a consultation with a Lemonaid Health provider in connection with this new service. Would it be the same as genetic counseling? I learned that while it would not replace genetic counseling, there are certain aspects of a virtual consultation with a provider from Lemonaid Health that overlaps with the work of licensed and certified genetic counselors. 



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="512" height="268" src="http://35.88.189.111/wp-content/uploads/2022/04/Linkedinfacebook-lemonaid.jpeg" alt="" class="wp-image-29712" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/04/Linkedinfacebook-lemonaid.jpeg 512w, https://blogcms.23andme.com/wp-content/uploads/2022/04/Linkedinfacebook-lemonaid-300x157.jpeg 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



As part of the genetic report consult service, Lemonaid Health primary care providers will offer consultations to help customers understand the role genes play in their health, within the context of their health history and overall risks. A Lemonaid Health clinician might review family health history information, for example, as it relates to the genetic testing or condition the customer brought forward as their main concern. This means asking questions about family health history based on the reason for the consultation and identifying red flags which may indicate an increased risk for a genetic condition in the family. When an increased risk is suspected, a three-generation pedigree will be taken, including information about relatives at the level of grandparent, aunt, uncle, cousin, parent, sibling, and children. This extra information can be incredibly important in identifying certain risks known to have a genetic component, such as certain types of cancer and cardiovascular disease.



<h6 class="wp-block-heading" id="h-genetics-101">Genetics 101</h6>



Anne explained that consultations center on discussing basic genetic concepts related to genetic disease and inheritance–for example, whether a condition is recessive or dominant and what that may mean for family members. Addressing other immediate concerns of the customer, such as genetic privacy protections, risks to other family members, and recommended next-steps are other key pieces to the consultation. The Lemonaid Health provider will also discuss options for additional genetic testing, which is an important piece of taking action in diagnosis, treatment, and prevention of many chronic diseases.&nbsp;



I also learned that state of residence would not be an issue. Lemonaid Health has providers licensed to practice in all 50 U.S. states. And this led to another question: can any person who has tested at 23andMe have this? Right now, the providers are prepared to address the first three genetic health risk reports mentioned earlier with eligible patients, and the plan is to expand that list over time.



Customers with questions about certain reports will see a banner (or link) in their dashboard informing them of the new service and what it offers. Starting with a few genetic health risk reports (<a href="https://blog.23andme.com/lemonaid-health/unlock-genetic-health-info/">MUTYH-Associated Polyposis, BRCA1/BRCA2 (Selected Variants), and Familial Hypercholesterolemia</a>)*, the list of conditions and reports customers can discuss with a <a href="https://blog.23andme.com/lemonaid-health/unlock-genetic-health-info/">Lemonaid Health</a> provider will grow over time.



<h6 class="wp-block-heading" id="h-training">Training</h6>



Since becoming a part of the 23andMe family, Lemonaid Health clinicians have participated in additional training around genetic information and how to factor this into patient care and disease prevention. Their training started with the conditions associated with the first three reports (<a href="https://blog.23andme.com/lemonaid-health/unlock-genetic-health-info/">hereditary breast and ovarian cancer, familial hypercholesterolemia, and MUTYH-associated polyposis</a>) and continues with ongoing education. This type of education for health care providers will help genetics become more integrated into preventative care.



Scheduling with a Lemonaid Health provider takes an extra step to set up and is a self-pay service. Choice is always an important aspect for anyone who has a genetic test. I asked Anne what value she sees from the Lemonaid Health consultations.&nbsp;



“As genetic counselors, we highly value the ability to find, process, and understand health information and to use that information to make healthcare decisions,” she explained. “It’s important to appreciate that everyone has a different learning style and therefore approaches navigating health information in different ways.“&nbsp;&nbsp;&nbsp;



Customers who want to seek out more information about their three (3) genetic health risk reports might choose to schedule a consultation with a Lemonaid Health provider, or they might instead take a different route, such as exploring online learning materials already available at 23andMe. One example is the educational page on the BRCA1 and BRCA2 genes, <a href="https://www.23andme.com/brca/">Do You Speak BRCA?</a> Customers can also explore the various sections of their genetic health risk report, which include information about the condition, gene, and variants tested, links out to research underlying the report, and answer frequently asked questions.&nbsp;



When the opportunities for understanding genetic results expand, barriers drop to accessing and making use of the information gained from genetic testing. The combined services of Lemonaid Health and 23andMe give 23andMe customers another way to take the next step when it comes to using genetic information in their lives and health care. That is a situation in which everyone benefits.



Brianne Kirkpatrick is a genetic counselor and DNA consultant. She is the founder of<a href="https://www.watersheddna.com/"> Watershed DNA</a> and the author of the book DNA Guide for Adoptees. An alumnus of Indiana University and Northwestern University, Brianne is a member of the National Society of Genetic Counselors, American Board of Genetic Counseling, American Counseling Association, and International Society of Genetic Genealogy. She lives in Crozet, Virginia with her husband and their three children.



<hr class="wp-block-separator has-alpha-channel-opacity"/>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is&nbsp; not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. Warnings &amp; Limitations: The 23andMe PGS Genetic Health RIsk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer.&nbsp; The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding each genetic health risk report click <a href="https://www.23andme.com/test-info/">here</a>.&nbsp;

More on Genetic Report Consults with Lemonaid Health

Listening to those with a rare disease, a common refrain is that they often feel isolated, unheard, and alone.
But they’re not alone.&nbsp;&nbsp;
<h6>Much to Learn</h6>
While each rare disease is by definition uncommon — affecting fewer than 200,000 people — there are more than 7,000 known rare diseases. There are more than 300 million people worldwide who have a rare disease. Yet because these rare diseases are unique and affect small groups of people, the conditions are difficult to study.&nbsp;
Disease research can sometimes be a numbers game, and research into rare diseases is often stymied as scientists struggle to gather enough individuals with the condition who are able to participate in their research. While we know that about 70 percent of rare diseases are genetic, there is so much we don’t know about these conditions. Only about 5 percent of all rare diseases have approved treatments.&nbsp;&nbsp;
<h6>Potential for Insight</h6>
23andMe hopes to change that. Part of our mission as a company is to focus our therapeutics efforts on conditions with unmet needs and to maximize our chances of discovering novel genetic insights to help in that search.&nbsp;
In the last few years, our researchers have discovered how powerful our unique research platform is for making important discoveries about these rare conditions. People with rare diseases are not limited by geography, and can easily participate in research if they choose, while our scientists can leverage online tools and data on a massive scale, to study a broad range of conditions.
“We have the potential of making genetic findings for several rare diseases for which there currently is very little known,” said John Matthews, Ph.D., M.D., and the Senior Clinical Development Fellow on 23andMe’s Therapeutics team.
<h6>23andMe’s Rare Disease Research Study</h6>
23andMe’s Rare Disease Research Study will start with a handful of rare diseases, recruiting individuals to participate in innovative genetic research around —<a href="https://www.23andme.com/systemic-sclerosis-study/"> systemic sclerosis</a> (a study we first started in 2021), ANCA-associated vasculitis, pemphigus vulgaris, and dermatomyositis.&nbsp;
<ul>
<li style="font-weight: 400;" aria-level="1">Systemic sclerosis causes the hardening of the body’s connective tissue.</li>
<li style="font-weight: 400;" aria-level="1">ANCA-associated vasculitis (AAV) is actually a group of autoimmune diseases that are characterized by inflammation of small vessels.&nbsp;</li>
<li style="font-weight: 400;" aria-level="1">Pemphigus vulgaris is an autoimmune disorder that involves blistering and erosion of the skin as well as the mucous membranes.</li>
<li style="font-weight: 400;" aria-level="1">Dermatomyositis is an inflammatory disease marked by muscle weakness and a distinctive skin rash.</li>
</ul>
In addition to these four conditions, 23andMe will expand another existing rare disease study on <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">&nbsp;idiopathic pulmonary fibrosis</a>, which causes irreparable scarring of the lungs that progressively worsens lung function. The study now will broaden to include other types of lung fibrosis as part of this program.&nbsp;
The hope is that this work will lead to discoveries and insights into possible new treatments. We plan to slowly expand the number of conditions we study in the coming months.
In typical rare disease research, scientists have relied on very small cohorts of perhaps a few dozen individuals or studied members of the same family who all might share a rare condition. But that makes it very difficult to gain new insight into genetic variants that were previously unknown to be associated with these rare conditions.
<h6>A Revelation</h6>
In what at the time was believed to be the largest genetic study of rare diseases, 23andMe published research in 2021 explaining how the company is uniquely positioned to<a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/"> study rare diseases.</a>&nbsp;
Using data from more than 1.6 million research participants, including 19,000 who reported a rare disease diagnosis, 23andMe scientists conduct genome-wide association studies on 33 different rare diseases. The 23andMe study is the first Genome-Wide Association Study (GWAS) ever done for a few of these rare conditions. The study identified new genetic associations for each. The research was a revelation. Finding these associations offers scientists a deeper understanding of the biological pathways for the conditions and offers the possibility for identifying potential treatments.
“It was a surprise for us when we were able to find genetic associations in studies of rare diseases with only tens of affected individuals,” said 23andMe senior scientist in statistical genetics, Suyash Shringarpure, Ph.D., who worked on the study. “Another surprise was finding that common genetic variants show association with rare disease risk. Previously, it has been found that rare genetic variants cause rare diseases, so this was unexpected.”
You can learn more about 23andMe’s Rare Disease Study by following the links to the disease-specific landing pages below:
<ul>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/systemic-sclerosis/">Systemic sclerosis</a>&nbsp;</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/anca-associated-vasculitis/">ANCA-associated vasculitis</a>&nbsp;</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/pemphigus-vulgaris/">Pemphigus vulgaris</a></li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/dermatomyositis/">Dermatomyositis</a></li>
</ul>
<h6></h6>

23andMe Launches Rare Diseases Study

This August’s record-setting heat waves serve as a reminder to pay special attention to sun and heat exposure.
Many of us already understand that sun exposure can increase one’s risk for certain types of <a href="https://blog.23andme.com/health-traits/new-23andme-report-on-skin-cancer/">skin cancer</a> like melanoma and basal and squamous cell carcinomas. But beyond skin cancer, increased UV radiation and heat can also exacerbate several other health conditions. Learning more about some of these conditions and your genetic likelihood of developing them can help you better protect yourself this summer.
<h6>A Resurgence of Rosacea</h6>
Rosacea is a chronic skin condition that often causes redness, flushing, or visible blood vessels around the nose and cheeks. Symptoms come and go in response to environmental triggers.
<a href="https://www.aad.org/public/diseases/rosacea/triggers/prevent#:~:text=Think%20sun%20protection,30%20or%20higher%20every%20day.">Sun exposure</a> is a common cause of rosacea flare-ups, particularly in the summer. However, basic protection measures – like avoiding midday sun, wearing a hat, and applying a gentle, mineral-based sunscreen – can help lessen symptoms.  
It also helps to be aware of your genetics. Rosacea is likely due to a<a href="https://blog.23andme.com/health-traits/new-report-rosacea/"> confluence of factors</a>, including genetics and inflammation caused by an overactive immune system.
23andMe researchers, in collaboration with academic and industry partners, identified <a href="https://blog.23andme.com/23andme-research/the-genetics-of-rosacea/">two genetic variants</a> associated with rosacea among people of European descent and unearthed <a href="https://blog.23andme.com/23andme-research/new-genetic-associations-for-rosacea-found/">seven gene regions</a> related to rosacea symptom severity.
Current research aims to better understand the condition and identify therapies that can help treat symptoms.
<h6>Weathering Lupus Flare-Ups</h6>
The summer sun can also spell trouble for people with lupus. This chronic autoimmune condition occurs when the body’s immune system attacks its own tissues and organs. The resulting inflammation can affect joints, skin, and various organs. 
Many people with lupus experience photosensitivity and flare-ups after UV exposure. A <a href="https://blog.23andme.com/23andme-research/new-insights-from-lupus-research/">four-year study</a> by 23andMe and Pfizer of 6,000 individuals with lupus found that 67 percent of participants reported skin reactions after sun exposure. 
Dermatologists <a href="https://www.lupus.org/resources/uv-exposure-what-you-need-to-know">recommend</a> a suite of lifestyle modifications that include wearing sunscreen, shading or tinting the windows of your car, and even choosing lightbulbs with lower irradiance.
<h6>Staying Safe this Summer</h6>
Too much UV exposure and too much heat can leave their mark, but with a little knowledge and preparation, you can maximize the last few weeks of the season.

Here Comes the Sun!

Although he’s a doctor, Paulo didn’t use 23andMe to learn about his health. He used the services to learn more about where he came from.
 “I didn’t know my biological father so I wondered about my ancestry on my father’s side,” said the hematologist, who is in his 40s.
It wasn’t that Paulo was uninterested in 23andMe’s health offering, he just didn’t expect anything. He knew 23andMe offered health reports and he’d even had a discussion with colleagues about genetic testing in general. The conversation revolved around whether he’d still be interested if it turned out that he had a risk for a condition for which there was no treatment.
“I thought about it before I (used 23andMe), and I’d want to know,” Paulo said. “Because (knowing) would allow me to prepare. But my situation with this result is totally different.”
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Paulo used 23andMe while he was in the United States for an extended period of time for a medical conference. When he opened up his reports a few weeks later he learned that he had an increased risk of developing a little-known condition that, if left undiagnosed and untreated, could lead to congestive heart failure. It was stunning, he said. For some, this might have generated angst, but for Paulo, it was the opposite. The knowledge felt empowering.
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Editor’s Note: We’ve talked to hundreds of people about what they did ‘after the click,’ after they opened up a report and learned about an unknown risk for breast cancer, or lung and liver disease, or cardiac and neurological issues. <o:p></o:p>
The response isn’t one of fear but empowerment.  <o:p></o:p>
Suddenly they and their doctor have information they can use to follow-up on a risk in order to prevent or treat a serious illness. And this is too often for risks they wouldn’t have known of otherwise. <o:p></o:p>
Here is the another in an occasional series about customers who were empowered to take action after learning of a serious health risk through 23andMe. <o:p></o:p>
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“The difference is I could do something about it,” he said. 
Like most doctors, Paulo would much prefer if, instead of treating someone for an illness, he could help prevent them from getting sick in the first place. But to do that you have to know of a risk beforehand. That knowledge would give you and your doctor the chance to take steps that could prevent an illness or mitigate a sickness before it ever develops. That’s the ideal. But it rarely happens that way. The healthcare system is very good at treating an illness but, as yet, not so good at preventing one.
That’s what made Paulo’s result so empowering and turned his story into one about prevention.
After clicking on his 23andMe Hereditary Amyloidosis (TTR-Related) Genetic Health Risk report,* Paulo learned he had the V122I variant.
It’s associated with an increased risk of developing something called TTR-related hereditary amyloidosis. The condition is characterized by a build-up of a protein called transthyretin (TTR) in various organs in the body, including the heart. It&#8217;s notoriously difficult to diagnose and often goes undetected. Left untreated it can lead to congestive heart failure and other symptoms. People with this variant typically do not begin to show symptoms until after the age of 60, and the risk increases with age: One study found that among men over 70 with this variant, the rate of heart failure was 70 percent.
Paulo knew that he should take this information seriously.
After getting his result, he talked to his doctor, who diagnosed his condition after confirmatory testing. He also did some research, learning more about the condition and current treatments, and even looking into clinical trials. In the last few years, new medicines have been developed to treat TTR-related hereditary amyloidosis, and they are widely available and effective. The earlier the diagnosis, the more effective the treatment.
“Now I take the medicine,” he said. “I have an exam each year, and this can help me prevent a very serious condition. It doesn’t get better than that.”
But the outcome isn’t so straightforward for most of those with the variant. Many who carry the variant are unaware of it, just as Paulo had been prior to testing with 23andMe. Most have never even heard of the condition, which is particularly prevalent within the African American and Latino communities (Paulo is Brazilian, and has a mix of African, Indigenous American, and European ancestry). Some stats indicate that up to four percent of African American and one percent of Latinx individuals are at an increased risk for congestive heart failure because they have the variant.
Indeed, about 10 percent of African Americans over the age of 60 with congestive heart failure carry the variant. A recent <a href="https://www.mdpi.com/2075-4426/11/1/49/htm">small study</a> by researchers at Mount Sinai found that genetic testing could help both patients and their doctors treat and prevent TTR-related hereditary amyloidosis. The study identified individuals with the variant through genetic screening (not through 23andMe) within a research cohort in New York City.
A little more than half of those identified as carriers of the V122I variant were African American, and a little under half were Latino. Although none had been diagnosed with TTR-related hereditary amyloidosis, many had early indicators of the condition. None of the participants knew of any family history of TTR-related hereditary amyloidosis. In other words, it’s likely that without testing many would never have learned of their risk.
But one of the biggest takeaways of the study is that, like in Paulo’s case, upon learning they had this pathogenic variant, a majority took action, visiting a cardiologist within eight months. This has given them the opportunity to get earlier treatment for a condition that is under-recognized yet treatable. Early diagnosis is critical, and there are new therapies for it. Getting this information to these individuals early was potentially life-saving.
At least that’s what Paulo believes about his experience using 23andMe.
“In my case, I didn’t have to wait until I had heart problems,” he said. “I can do treatment to prevent it.”
After his condition was confirmed through confirmatory testing, Paulo’s mother tested but she did not have the variant, indicating that he likely inherited the risk variant from his birth father. He is still looking for his birth father, but now in part, he wants to find him to alert him that he may carry the variant that puts him at risk. Maybe his father doesn’t know it and the information could help him too.
“Maybe I can help my dad, whoever he is.”
<hr />
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is  not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. The TTR-related hereditary amyloidosis genetic health risk report is indicated for reporting of V122I, V30M, and T60A variants in the TTR gene and describes if a person has variants associated with an increased risk of developing TTR-related hereditary amyloidosis.  The majority of the variants included in this report have been most studied in people of African Americans, West African, Portuguese, Northern Swedish, Japanese, Irish, and British descent.

After the Click, Paulo Protects His Heart

This week, we released a new report (powered by 23andMe Research) on Fibromyalgia for 23andMe+ Premium members.
Fibromyalgia is characterized by chronic pain and tenderness throughout the body. That pain can be intermittent and move to different parts of the body. Fibromyalgia symptoms can also include fatigue, problems sleeping, and difficulty concentrating.
Because of the pain, discomfort, and chronic nature of the condition, people with fibromyalgia often experience depression and anxiety as they cope with their symptoms.
<h6><img loading="lazy" decoding="async" class="aligncenter wp-image-29987 size-large" src="http://35.88.189.111/wp-content/uploads/2022/08/Fibromyalgia-1200x628-1-1024x536.png" alt="" width="1024" height="536" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Fibromyalgia-1200x628-1-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Fibromyalgia-1200x628-1-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Fibromyalgia-1200x628-1-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Fibromyalgia-1200x628-1-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Fibromyalgia-1200x628-1-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Fibromyalgia-1200x628-1.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />Understanding Fibromyalgia</h6>
The causes of fibromyalgia are not well understood, but genetics and other factors influence how likely an individual is to develop the condition.
 Researchers believe people with fibromyalgia have higher pain sensitivity. That may reflect differences in the nervous system for these individuals, especially in the brain and spinal cord.
While the exact causes are not understood, certain non-genetic factors are associated with a higher likelihood of developing the condition. A family history of the condition also increases the odds of developing it. It’s also associated with other health conditions, like depression, viral infection, arthritis, and lupus. Stress or trauma also is associated with higher chances of developing fibromyalgia.
 While the condition can affect people of any age, it tends to develop in middle age. It’s estimated that as many as five million people in the U.S. live with fibromyalgia, according to the Centers for Disease Control. Women are more likely to be diagnosed with fibromyalgia, but it’s also believed that the condition is under-diagnosed, especially in men.
<h6>A New Report</h6>
Our new report is powered by data from people who have consented to participate in 23andMe research and uses machine learning techniques to estimate an individual’s likelihood of developing fibromyalgia.
 This estimate is made using a statistical model that includes 13,040 genetic markers and information on an individual’s ethnicity and birth sex. In this <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf">white paper</a>, you can learn more about the science and methodology behind our new report. 
<h6>Managing and Treating Fibromyalgia</h6>
Although it’s not life-threatening, fibromyalgia can make day-to-day life difficult.
Beyond the symptoms already described like chronic pain and fatigue, people with the condition also may deal with headaches, migraines, irritable bowel syndrome, or even a painful bladder.
Often those with the condition benefit from counseling or participate in support groups as part of a broader effort to manage their fibromyalgia.
In addition, many experts agree that lifestyle habits may help manage symptoms and improve the quality of life for those with fibromyalgia. Regular exercise, good sleep and sleep habits, and stress-reduction or mindfulness techniques have been shown to help manage symptoms.
<h6>Learn More</h6>
23andMe’s new Fibromyalgia report (powered by 23andMe Research) is available to all 23andMe+ Premium members. To view your report, go<a href="https://you.23andme.com/reports/prs.fibromyalgia/"> here</a>.
Not a 23andMe+ Premium member? To become a 23andMe+ Premium member, or to find out more go<a href="https://www.23andme.com/membership/"> here</a>.

New 23andMe+ Premium Report on Fibromyalgia

23andMe’s latest Ancestry Composition update includes three new populations in China, increasing resolution for v5 customers with ancestry from the world’s most populous country. 
With more than 30 detailed ancestry regions in China and 19 in Taiwan, 23andMe was already the best DNA test for people with Chinese ancestry, but there was room for improvement. 
“I had some specific regional matches in China and Taiwan, but my ancestry breakdown — my pie chart — just said 100 percent Chinese, which was a little disappointing since China has much more diversity than that,” said Alison Kung, 23andMe’s Director of Product Management, whose family hails from Taiwan.
Now, with 23andMe’s latest Ancestry Composition update introducing three new populations in China, Alison’s ancestry percentages have been broken down into a combination of ancestries. In her updated report, most of Alison’s Chinese ancestry has been inferred to be from Southern China, with smaller percentages from elsewhere in China.
<div id="attachment_29967" style="width: 1034px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-29967" class="size-large wp-image-29967" src="http://35.88.189.111/wp-content/uploads/2022/08/China-by-regional-Pop-Map-1024x714.png" alt="The five Ancestry Composition population regions within China." width="1024" height="714" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/China-by-regional-Pop-Map-1024x714.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/08/China-by-regional-Pop-Map-300x209.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/08/China-by-regional-Pop-Map-768x535.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/China-by-regional-Pop-Map-880x613.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/08/China-by-regional-Pop-Map-1180x823.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/08/China-by-regional-Pop-Map.png 1370w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />This map indicates the five Ancestry Composition populations within China, including three new, primarily Han Chinese populations. In the upper left corner, Xinjiang Uygur Autonomous Region is hashed with both green and red to reflect the fact that individuals from this region can have genetic ancestry resembling either Central Asian populations or Northern Chinese &amp; Tibetan populations.  </div>
“I&#8217;m excited I can finally understand how my genetic makeup is broken up between the regions of China, since I was unfamiliar with my family history before they were in Taiwan,” explained Alison.
<a href="https://you.23andme.com/reports/ancestry_composition/">View your updated Ancestry Composition report</a>
Note: Customers with no East Asian ancestry may also see small changes to their Ancestry Composition percentages. Common questions about this update can be found at the end of this article.
<h6>What’s new?</h6>
New populations
In previous versions of Ancestry Composition, there were three populations representing almost all of China’s diverse ancestry: “Chinese” represented the majority Han Chinese population; &#8220;Central Asian&#8221; represented the Uyghur population of western China; and “Chinese Dai” represented the larger Tai ethnolinguistic group that currently lives in parts of China, Burma, Laos, Vietnam, and Thailand. Most Chinese Dai live in southern and western Yunnan Province and are genetically more similar to their Vietnamese neighbors than they are to the Han Chinese. 
With this latest update, the “Chinese” reference population was replaced by three more specific populations: <a href="https://you.23andme.com/reports/ancestry_composition/north_chinese/">Northern Chinese &amp; Tibetan</a>, <a href="https://you.23andme.com/reports/ancestry_composition/south_chinese/">Southern Chinese &amp; Taiwanese</a>, and <a href="https://you.23andme.com/reports/ancestry_composition/southernmost_chinese/">South Chinese</a>.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="332" src="https://blogcms.23andme.com/wp-content/uploads/2022/08/Tree-of-Different-Chinese-Ancestry-Regions-1024x332.png" alt="" class="wp-image-29968" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Tree-of-Different-Chinese-Ancestry-Regions-1024x332.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Tree-of-Different-Chinese-Ancestry-Regions-300x97.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Tree-of-Different-Chinese-Ancestry-Regions-768x249.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Tree-of-Different-Chinese-Ancestry-Regions-880x285.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Tree-of-Different-Chinese-Ancestry-Regions-1180x383.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Tree-of-Different-Chinese-Ancestry-Regions.png 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
New stories
Our team of product scientists and content writers have curated a selection of vignettes about the genetic histories, cultures, and attractions unique to the three new populations. Find these new stories on the <a href="https://you.23andme.com/reports/ancestry_composition/north_chinese/">Northern Chinese &amp; Tibetan</a>, <a href="https://you.23andme.com/reports/ancestry_composition/south_chinese/">Southern Chinese &amp; Taiwanese</a>, and <a href="https://you.23andme.com/reports/ancestry_composition/southernmost_chinese/">South Chinese</a> population pages. 
 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="474" src="https://blogcms.23andme.com/wp-content/uploads/2022/08/Cultural-Dive-Image-1024x474.png" alt="" class="wp-image-29969" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Cultural-Dive-Image-1024x474.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Cultural-Dive-Image-300x139.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Cultural-Dive-Image-768x355.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Cultural-Dive-Image-880x407.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Cultural-Dive-Image-1180x546.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Cultural-Dive-Image.png 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="511" src="https://blogcms.23andme.com/wp-content/uploads/2022/08/Bejing-Image-1024x511.png" alt="" class="wp-image-29971" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Bejing-Image-1024x511.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Bejing-Image-300x150.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Bejing-Image-768x384.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Bejing-Image-880x439.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Bejing-Image-1180x589.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Bejing-Image.png 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6>The scientific details</h6>
A gradient of genetic diversity
More than 90 percent of people in China identify as Han Chinese, but nested within that Han identity are many layers of regional variation. For example, separating the northern Han from the southern Han are vaguely defined, but often deeply felt, geographical, cultural, historical, and linguistic differences. To what extent does their DNA reflect those distinctions?
China’s population history, including extensive migration, complicates the goal of identifying distinct genetic groups in China. A recent <a href="https://www.cell.com/cell/fulltext/S0092-8674(18)31032-8#%20">study</a>, led by a group at BGI-Shenzhen in Guangdong, China, analyzed the population structure of self-described Han Chinese in China. The authors found a gradient of genetic similarity, but they were also able to identify three distinct genetic groups of Han Chinese, color-coded by region in the paper’s supplemental figure 3, shown below. 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="522" src="https://blogcms.23andme.com/wp-content/uploads/2022/08/AC-Graph-1024x522.png" alt="" class="wp-image-29970" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/AC-Graph-1024x522.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/08/AC-Graph-300x153.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/08/AC-Graph-768x392.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/AC-Graph-880x449.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/08/AC-Graph-1180x602.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/08/AC-Graph.png 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
These results are very similar to those identified by 23andMe’s analysis of customers who report recent ancestry from specific regions of China. While most of the individuals in our analysis may identify as Han, we did not limit the analysis to customers who identified this way. 
<a href="https://you.23andme.com/reports/ancestry_composition/">View your updated Ancestry Composition report</a>
<h6>Discover more with 23andMe</h6>
With more than 2,000 geographic regions, mitochondrial and Y-chromosome haplogroups, <a href="https://you.23andme.com/reports/ancestry_composition_hd/?assessment_id=ancestry_composition_hd.achd_admixture_dating">Ancestry Timeline</a>, <a href="https://you.23andme.com/tools/relatives/dna/">advanced DNA comparison</a>, <a href="https://you.23andme.com/family/relatives/">DNA Relatives</a>, and a <a href="https://you.23andme.com/family/tree/">genetic Family Tree</a>, 23andMe offers more specificity, more interactivity, and more to explore. 23andMe&#8217;s Ancestry Composition improves over time as 23andMe adds new populations and regions, offering customers a chance to see more granularity in their results.
23andMe customers can go to their <a href="https://you.23andme.com/ancestry/">Ancestry Overview</a> to start exploring. 
Not yet a customer? Find out more about 23andMe’s ancestry offerings <a href="https://www.23andme.com/dna-ancestry/">here</a>.

<h6>Common Questions</h6>
1) How did you identify these populations? 
To begin building our reference panel, we selected research-consented 23andMe customers who indicated in their Family Origins survey that all four of their grandparents were born in the same Chinese province. 
Next, we identified groups of individuals who share higher levels of DNA with each other than they do with others in the analysis. These genetic groups became our reference groups for this feature. We compare customers&#8217; DNA to the DNA of individuals within these reference groups.
2) Can customers who tested on earlier genotyping chips see this update?
Customers who tested on older versions of the genotyping chip will need to upgrade to the latest genotyping chip to receive updated results. To find your genotyping chip version, go to your 23andMe profile <a href="https://you.23andme.com/user/">settings</a>, and scroll to the bottom of the personal information section to where it says “Genotyping chip versions.” Customers on our latest chip will see “version 5.” <a href="https://you.23andme.com/chip-upgrade/">Learn more</a> about chip upgrades. This latest Ancestry Composition update includes three new populations in China and is available to customers who tested with 23andMe using the v5 chip (i.e., those genotyped on our latest genotyping chip, called “v5”). All v5 customers’ Ancestry Composition results will be recalculated as part of this update, including customers without East Asian ancestry. Customers without East Asian ancestry should not expect to see significant changes to their ancestry percentages. 23andMe’s latest Ancestry Composition update includes three new populations in China, increasing resolution for v5 customers with ancestry from the world’s most populous country.
3) What does “Northern Chinese AND Tibetan” ancestry mean? Does this mean I have ancestry from both populations listed in the population name? 
This reference population includes individuals whose grandparents were born in Tibet, as well as individuals whose grandparents were born in one of China’s northern provinces. If you have some “Northern Chinese &amp; Tibetan” ancestry in your Ancestry Composition results, this does not necessarily mean you have ancestry from both of these regions, though it is possible. Instead, it could mean that you have ancestry from just one of these regions. You may see more detail in your results that can help shed light on your geographic ancestry — specific provinces to which we were able to trace your ancestry. 
4) My results used to say “East Asian &amp; Indigenous American,” but they no longer do. What changed? 
With this update, Indigenous American ancestry is no longer grouped with East Asian ancestry. What does this mean? Previously, people with either East Asian or Indigenous American ancestry would see those ancestries grouped together under an umbrella category called “East Asian &amp; Indigenous American.” These ancestries were grouped together in our Ancestry Composition algorithm to accommodate shared ancestry that resulted from the migrations into the Americas from Asia that began around 23,000 years ago. 
However, Indigenous American ancestry is almost always distinguishable from East Asian ancestry and, following recent algorithm improvements reducing the amount of nonspecific ancestry in customers’ results, we’ve separated Indigenous American ancestry into its own category.  While this change better reflects how these populations think about their ancestry today, customers who previously had some “Broadly East Asian &amp; Indigenous American” ancestry may now see some or all of that ancestry identified as “unassigned” by the Ancestry Composition algorithm. Customers with Broadly East Asian &amp; Indigenous American ancestry typically had less than 0.5% of this ancestry. 
<a href="https://www.23andme.com/ancestry-composition-guide/">Read more</a> about how the Ancestry Composition algorithm works.
5) If I have ancestry from an ethnic minority in China, will I also have updated results? 
You will still receive updated results, but our algorithms are not granular enough to distinguish these minority populations at this time. It’s likely that the large majority of individuals in the reference populations identify as Han Chinese, but ethnic minorities in China were not excluded in this analysis.
6) I don’t have Chinese ancestry. Will my results change with this update? 
It’s possible customers with no Chinese ancestry will see small changes to their Ancestry Composition results. All customers who tested on version 5 of the genotyping chip will be recalculated with this update, though many customers’ percentages may remain the same.

23andMe Increases Resolution of Chinese Ancestry Inference

A new genetic study identified five regions in the human genome associated with susceptibility to pneumonia, a leading cause of death worldwide.
Published in the journal<a href="https://www.nature.com/articles/s41467-022-31473-3"> Nature Communications</a>, the study also found a surprising link between the risk of pneumonia and psychiatric conditions, such as schizophrenia, bipolar disorder, and major depression.
There are several types of pneumonia, but the most common involve bacterial or viral infection in the lungs. The condition can be deadly for those most physically vulnerable, particularly the elderly and young children. Many of those hospitalized for COVID-19 also end up having to be treated for pneumonia.
<h2>Five Genetic Regions</h2>
This study was led by researchers at the University of Newcastle in Australia. It included data from over half a million individuals and is believed to be the largest genomic study of pneumonia ever done. The research included data from 23andMe customers who consented to participate in research and data from the<a href="https://www.finngen.fi/en"> FinnGen</a> consortium.
The researchers identified five genetic regions associated with pneumonia. Some previously identified associations within human leukocyte antigen (HLA) genes were among those. 
The HLA genes are the hundreds of genes on chromosome 6 that regulate the body’s immune system. The HLA gene also regulates the response to invading pathogens like viruses and bacteria. 
<h2>Role of Inflammation</h2>
The team also found three new associations in genes related to inflammation and immunity and another new association in the gene MUC5AC. The gene is in a cluster of genes that regulate the production of mucin proteins in the body. Mucin proteins make up mucus, the substance that lubricates and protects the lining of the airways, digestive tract, and reproductive system. The up-regulation of MUC5AC may exacerbate pneumonia by inducing inflammation in the airways.
According to the researchers, the link between the genetic risk for pneumonia and psychiatric conditions may be related to inflammation.
“I think it&#8217;s surprising, but in some ways, it’s not, as there are thought to be inflammatory risks for mental illness,”<a href="https://www.newcastle.edu.au/newsroom/featured/pneumonia-risk-signals-potential-for-precision-medicine"> said Murray Cairns,</a> one of the paper’s co-authors and a principal investigator at the University of Newcastle’s HMRI Precision Medicine Research Program. “(Inflammation) is a well-known risk factor for psychiatric illness, so it&#8217;s potentially a risk shared between those disorders.”
The researchers acknowledge that much more must be done to understand the link between pneumonia and mental illness. However, in the paper, they hypothesize that the connection may be related to HLA genes and either their overreaction, inflammation, or inadequate response to an infection.
Understanding the role of this link with inflammation and the genetic associations for pneumonia could help researchers look for new treatments.
Find the complete study in the journal<a href="https://www.nature.com/articles/s41467-022-31473-3"> Nature Communications.</a>

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