23andMe Blog

23andMe Blog Team

23andMe Improves Ancestry Results for People with South American, Levantine, Sephardic, and Mizrahi Genetic Ancestry

This week, 23andMe released new reports on three of the most common types of cancer — <a href="https://www.cdc.gov/cancer/breast/basic_info/">breast cancer,</a> <a href="https://www.cdc.gov/cancer/prostate/basic_info/">prostate cancer</a>, and <a href="https://www.cdc.gov/cancer/colorectal/basic_info/what-is-colorectal-cancer.htm">colorectal cancer</a>.&nbsp;



The new reports use thousands of genetic variants associated with the disease to assess a person’s likelihood of an individual developing one of these cancers.



The reports are based on statistical models known as polygenic risk scores (PRS), developed by 23andMe through its proprietary research database. These new PRS reports were developed by 23andMe scientists and clinical experts using the company’s massive database of genetic and self-reported health information contributed by consented research participants.



<h2 class="wp-block-heading" id="h-the-new-cancer-prs-reports">The New Cancer PRS Reports</h2>



The new 23andMe PRS reports focus on some of the most common cancers for which genetics are often a factor, noting where some customers may have an increased likelihood of developing these conditions relative to the average. This is important because averages can mask significant differences – some people have a higher chance of developing cancer, and some have a slightly lower chance due to genetics and other factors. Significantly, healthy lifestyle habits can offset an increased genetic likelihood of developing these diseases, while routine screening can help with early detection.



Breast cancer affects, on average, one in eight females, while prostate cancer affects about one in eight males, and colorectal cancer impacts about one in 25 people.



For these reports, depending on the type of cancer and the member’s ancestry, up to 5-to-30 percent of our current <a href="https://www.23andme.com/membership/">23andMe+ Premium</a> and <a href="https://www.23andme.com/total-health/">23andMe+ Total Health</a> members will see an increased likelihood result.&nbsp;



It’s important to note that these three new cancer reports — <a href="https://you.23andme.com/reports/prs.breast_cancer/">Breast Cancer PRS Report</a>*, <a href="https://you.23andme.com/reports/prs.prostate_cancer/">Prostate Cancer PRS Report</a>*, and <a href="https://you.23andme.com/reports/prs.colorectal_cancer/">Colorectal Cancer PRS Report</a>* — augment or work in parallel with three existing Genetic Health Risk reports* that look at select variants associated with these types of cancers.&nbsp;



Although each report examines how a customer’s genetics can impact the chances of developing cancer, the reports differ in several ways. One way to look at them is to consider the different causes of cancer.



Cancer can be caused by rare genetic variants that have a significant impact on the risk of developing cancer. These highly impactful variants are part of our Genetic Health Risk reports. Other times, cancer can be influenced by thousands of common variants that each have a small effect on the likelihood of developing cancer. But a lot of small impact variants can make a big impact. 23andMe’s new PRS reports consider many common variants to report the likelihood of developing cancer. It’s these common genetic variants combined with lifestyle and environment that cause the majority of cancer.



23andMe’s existing Genetic Health Risk reports include the <a href="https://blog.23andme.com/articles/23andme-updates-brca1-2-report">BRCA1/BRCA2 (Selected Variants)</a>* report, the <a href="https://blog.23andme.com/articles/23andmes-new-hereditary-prostate-cancer-hoxb13-related-report">Hereditary Prostate Cancer (HOXB13-Related)</a>* report, and the <a href="https://blog.23andme.com/articles/23andmes-new-mutyh-report">MUTYH-Associated Polyposis (MAP)</a>* report. If a customer has an increased risk detected in one of those reports, they will not receive a result for the related PRS report.



<h2 class="wp-block-heading" id="h-a-caveat-regarding-the-new-colorectal-cancer-report">A Caveat Regarding the New Colorectal Cancer Report</h2>



The new colorectal cancer PRS report is only available for those of European and Latino/Hispanic descent, as there is not yet enough data to provide a result for those of other ethnicities &#8211; a historical issue with genetic research and polygenic scores at large. As the number of customers opting to participate in our research grows, we may be able to improve the model performance within these groups.&nbsp;



To help address this issue, 23andMe recently launched <a href="https://www.23andme.com/genetic-insights-into-colorectal-cancer-black-community/">Genetic Insights into Colorectal Cancer in the Black Community</a> study, which invites individuals with African ancestry and/or who identify as Black or African American to participate. In the U.S., Black and African Americans have an increased chance of developing and dying from colorectal cancer compared to many other ethnic groups. We hope to use the insights gained from this study to help more customers understand their chances of developing the disease. In the fall of 2023, we updated our BRCA1/BRCA2 (selected variants) report to include 44 variants and improve its coverage for people of non-European ancestry.&nbsp;



<h2 class="wp-block-heading" id="h-find-out-more-about-23andme-s-new-cancer-prs-nbsp">Find Out More About 23andMe’s New Cancer PRS&nbsp;</h2>



The hope is that these new PRS reports will help our customers become more informed, alerting them to an increased likelihood of developing cancer that they would not have known otherwise.



The three new PRS reports are available to <a href="https://www.23andme.com/membership/">23andMe+ Premium</a> members and <a href="https://www.23andme.com/total-health/">23andMe+ Total Health</a> members. Because these three new cancer reports cover similar conditions covered in three of our previously released sensitive reports—BRCA1/BRCA2 (Selected Variants), Hereditary Prostate Cancer (HOXB13-Related), and MUTYH-Associated Polyposis—we require customers to opt-in and view any tutorials associated with those sensitive reports in order to view their new cancer reports.&nbsp;



While the new reports do not include suggestions for clinical action and do not diagnose cancer, they do highlight healthy lifestyle habits, the importance of keeping up to date with screening, and what to discuss with your healthcare provider.



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



23andMe+ Premium members can find links to three new PRS reports on the new topic pages.



<ul class="wp-block-list">
<li><a href="https://you.23andme.com/health/condition/breast_cancer/">Breast Cancer </a>(only available for customers who self-reported their birth sex as female)</li>



<li><a href="https://you.23andme.com/health/condition/prostate_cancer/">Prostate Cancer </a>(only available for customers who self-reported their birth sex as male)</li>



<li><a href="https://you.23andme.com/health/condition/colorectal_cancer/">Colorectal Cancer&nbsp;</a></li>
</ul>



These new topic pages explain how the new cancer reports work with 23andMe’s existing Genetic Health Risk reports. In addition, the pages include information about the factors influencing the chances of developing one of these cancers and the importance of knowing your family health history.



These new topic pages will also be available to all 23andMe <a href="https://www.23andme.com/dna-health-ancestry/">Health + Ancestry customers</a> on the <a href="https://customercare.23andme.com/hc/en-us/articles/218392668-Upgrading-to-23andMe-s-Newest-Chip-Version">latest genotyping chip</a>, V5.&nbsp;



Find out all that 23andMe has to offer and <a href="https://www.23andme.com/compare-dna-tests/">compare our services here</a>.



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



<h2 class="wp-block-heading" id="h-disclaimer">Disclaimer</h2>



*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet FDA requirements for genetic health risks and PRS reports which are based on a statistical model that includes data and insights from 23andMe consented research participants, and have not been reviewed by the FDA. 



The 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 and reporting carrier status. 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. Each PRS report describes if a person has a certain likelihood of developing a condition, but does not describe a person’s overall likelihood. 



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. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child&#8217;s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. 



<h2 class="wp-block-heading" id="h-warnings-amp-limitations">Warnings &amp; Limitations: </h2>



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person&#8217;s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. 



The variants included in this report do not represent the majority of the BRCA1/BRCA2 variants in people of most ethnicities. The MUTYH-Associated Polyposis Genetic Health Risk Report is indicated for reporting the Y179C and G396D variants in the MUTYH gene and an increased risk for colorectal cancer. The two variants included in this report are most common in people of Northern European descent. The Hereditary Prostate Cancer (HOXB13-Related) Genetic Health Risk report is indicated for reporting the G84E variant in the HOXB13 gene. The report describes if a person has the G84E variant and if a male is at increased risk for prostate cancer. The variant included in this report is most common in people of European descent, especially in people of Northern European descent. 



These reports do 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. These reports are for over-the-counter use by adults, and provide genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action.&nbsp; For important information and limitations regarding genetic health risk reports, visit https://www.23andme.com/test-info.

An image of the three Cancer PRS reports displayed on a mobile phone.

23andMe Launches New Genetic Reports on Common Forms of Cancer

In time for Colon Cancer Awareness Month, 23andMe launched its <a href="https://www.23andme.com/genetic-insights-into-colorectal-cancer-black-community/">Genetic Insights into Colorectal Cancer in the Black Community</a> study this week that we hope will help improve the performance of genetic report models that could help alert those with a higher likelihood of developing colorectal cancer.



<h2 class="wp-block-heading" id="h-awareness">Awareness</h2>



March is Colon Cancer Awareness Month. Did you know that Colorectal cancer is one of the most common forms of cancer? It is also one of the leading cancer-related causes of death in the United States, according to the US Centers for Disease Control and Prevention. Its impact on people of color is particularly pernicious because they tend to be diagnosed in later stages of cancer and often receive lower-quality care. That plays a significant role in why 



Black and African American individuals are about 20 percent more likely to develop colorectal cancer and about 40 percent more likely to die from it, <a href="https://www.cancer.org/cancer/latest-news/colorectal-cancer-rates-higher-in-african-americans-rising-in-younger-people.html#:~:text=Risk%20is%20higher%20in%20African%20Americans&amp;text=African%20Americans%20are%20about%2020,it%20than%20most%20other%20groups.">according to the American Cancer Society</a>.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="252" src="http://35.88.189.111/wp-content/uploads/2024/02/Colorectal-Cancer-Image-300x252.png" alt="A graphic for the Colorectal Cancer Study" class="wp-image-32571" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/02/Colorectal-Cancer-Image-300x252.png 300w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Colorectal-Cancer-Image.png 596w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



Early detection makes treatment much more likely to succeed. This is why regular screening—through colonoscopy or stool-based tests—is so important. Knowing your genetic likelihood of developing the condition can raise awareness and motivation to take these vital screening steps.  



<h2 class="wp-block-heading" id="h-predictive-models">Predictive Models</h2>



Polygenic scores are a relatively new but powerful way to understand a person&#8217;s genetic likelihood for a condition. They combine the impact of hundreds or thousands of genetic variants to estimate a person&#8217;s chances. Individually, each of these variants only has a small effect on a person’s genetic likelihood, but that impact can grow when many variants are considered together. 



But the performance of these models — which rely on extensive genetic studies — tend to perform poorly for Black and African Americans, in part because of the lack of genetic research that includes data from non-European participants.



23andMe wants to improve how its polygenic score for colorectal cancer performs for Black and African American individuals and raise awareness about this form of cancer. That is the aim of this newly launched study.



<h2 class="wp-block-heading" id="h-what-is-colorectal-cancer">What is Colorectal Cancer?</h2>



Cancer occurs when abnormal cells divide and grow out of control. Colorectal cancer occurs in the colon or rectum, which are sections of the large intestine. This type of cancer usually starts as a growth called a polyp.&nbsp;



Most polyps are not cancerous, but some can turn cancerous over time. Left untreated, these cancer cells can spread beyond the colon or rectum through the blood and into the lymphatic system.&nbsp;



Like many forms of cancers, a complex mix of genetics, environment, aging, family history, and lifestyle influence whether someone develops colorectal cancer.&nbsp;



<h2 class="wp-block-heading" id="h-genes-and-environment">Genes and Environment</h2>



In a few types of colorectal cancer, such as <a href="https://www.cdc.gov/genomics/disease/colorectal_cancer/lynch.htm">Lynch syndrome</a>, <a href="https://rarediseases.info.nih.gov/diseases/6408/familial-adenomatous-polyposis">familial adenomatous polyposis (FAP)</a>, and <a href="https://blog.23andme.com/articles/23andmes-new-mutyh-report">MUTYH-associated polyposis</a>, genetics plays an outsized role. But diets that are low in fiber and fresh fruits and vegetables and high in fat and red and processed meats contribute to a higher risk for colorectal cancer, as does a lack of exercise, according to the Centers for Disease Control and Prevention. Things like eating a healthy diet, reducing alcohol consumption, not smoking, and maintaining a healthy weight can help lower one’s risk for the disease.



Current guidelines suggest starting regular screening for colorectal cancer at the age of 45 years. Still, certain risk factors, like a personal or family history of colorectal cancer or symptoms related to the disease, may call for earlier screening.&nbsp;



Although the majority of colorectal cancers are diagnosed in people over the age of 50 and the overall rate of colorectal cancers has declined in the last few decades, a <a href="https://acsjournals.onlinelibrary.wiley.com/doi/full/10.3322/caac.21772">recent study</a> by scientists with the American Cancer Society indicated that rates for those under the age of 55 have gone up. Colorectal cancer is now the leading cause of cancer death for men under 50.&nbsp;



Recognizing these trends and the disproportionate impact of colorectal cancer in the Black community, 23andMe scientists are recruiting Black and African Americans in the United States who have been diagnosed with colorectal cancer and are willing to participate in our research.&nbsp;



<h2 class="wp-block-heading" id="h-23andme-s-genetic-insights-into-colorectal-cancer-in-the-black-community-study">23andMe’s Genetic Insights into Colorectal Cancer in the Black Community Study</h2>



23andMe’s mission is to help all people access, understand, and benefit from the human genome. Several recent 23andMe initiatives have focused on conditions that affect many individuals but disproportionately affect individuals in the Black and African American communities. 



In 2022, we launched the Sickle Cell Carrier Status Awareness Program to help improve access to important information about sickle cell traits and diseases. That year, we also launched the Representation in Sarcoidosis Research Study, studying a rare inflammatory disease that affects the Black community at double the rate of individuals with European ancestry. We hope that with better representation, our products and research will benefit more people, especially when health inequities exist. One such condition is colorectal cancer.



<h2 class="wp-block-heading" id="h-a-new-study">A New Study</h2>



The newly launched <a href="https://www.23andme.com/genetic-insights-into-colorectal-cancer-black-community/">Genetic Insights into Colorectal Cancer in the Black Community</a> study will recruit Black and African American individuals in the United States who have been diagnosed with the disease. By increasing the amount of data on individuals from this community with colorectal cancer, we hope to be able to improve the polygenic score. This will strengthen our ability to inform Black and African Americans about how their genetics impact their chance of developing this form of cancer.&nbsp;



As part of this effort, 23andMe will reach out to individuals new to 23andMe. We will also connect with those currently participating in other research projects focused on the Black and African American community. The goal is to recruit Black and African American individuals who are 18 years or older, live in the United States, and have been diagnosed with colorectal cancer. If you would like additional information about how to participate in this research, you can learn more <a href="https://www.23andme.com/genetic-insights-into-colorectal-cancer-black-community/">here</a>.



If you have questions or want to contact us, email crc-study@23andme.com.

Studying Colorectal Cancer Within the Black Community

Miracles happen; ask Brooke and Chris Martin, who&#8217;ve experienced more than one.



The first came almost 24 years ago, when the couple, with the help of in vitro fertilization (IVF), were able to conceive after years of trying unsuccessfully. In October 2000, the couple welcomed healthy twin boys — Matthew and Christopher — into the world.&nbsp;



<h2 class="wp-block-heading" id="h-donation-and-then-a-prayer">Donation and then a Prayer</h2>



Knowing from their own experience how emotionally difficult infertility could be, Brooke and Chris donated embryos back to the fertility clinic instead of having the clinic discard them or donate them for scientific research. Brooke and Chris hoped the donation could help a couple who, like them, wanted children but couldn&#8217;t naturally have one.&nbsp;



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="263" height="300" src="http://35.88.189.111/wp-content/uploads/2024/02/Brooke-Portrait-263x300.png" alt="A portrait photo of Brooke Martin." class="wp-image-32554" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Portrait-263x300.png 263w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Portrait-768x878.png 768w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Portrait-896x1024.png 896w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Portrait-770x880.png 770w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Portrait-1033x1180.png 1033w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Portrait.png 1045w" sizes="auto, (max-width: 263px) 100vw, 263px" /><figcaption class="wp-element-caption">Brooke Martin</figcaption></figure>



&#8220;I thought it would be so awesome to help a couple who couldn&#8217;t conceive and to be able to give them the gift of a child,&#8221; Brooke said.



But this was a &#8220;blind&#8221; donation, meaning they wouldn&#8217;t learn anything about whether another couple used their embryos. They didn&#8217;t know anything about what happened to the embryos.



&#8220;I had always prayed that (the embryos) could help someone else,&#8221; Brooke said. &#8220;I&#8217;d hoped they&#8217;d end up in a loving home… but for 20 years, I&#8217;d wondered what happened to them.&#8221;&nbsp;



<h2 class="wp-block-heading" id="h-a-dna-connection">A DNA Connection</h2>



In 2021, another miracle, Brooke and Chris learned what happened to three of those embryos. 



Those three embryos they donated back to the fertility clinic gave another couple, Trey and Becky Monroe, the chance to be parents to triplets — Lauren, Thomas, and Peter.&nbsp;



That was a miracle for Trey and Becky. She wanted nothing more than to be a mom, Trey said. The children were a triple blessing. They also wondered a little about who had donated them.



When he and Becky asked their fertility doctor about the donor, the doctor &#8220;sort of chuckled,&#8221; Trey said, &#8220;(The doctor said) &#8216;they&#8217;re a lot like you two.'&#8221;



The couples were a lot alike. Along with sharing roots in Tennessee, Trey and Brooke work in mental health. They all have a solid Christian faith and a deep family connection. Then, there are the similarities between their children. You would expect some since they are biological siblings, so they look alike. But when Brooke first saw a photo of Thomas, it still made her gasp at how much she looked like her sons.



&#8220;There was no doubt that&#8217;s our kid,&#8221; Brooke said.



<h2 class="wp-block-heading" id="h-harmony">Harmony</h2>



But it wasn&#8217;t just how similar they all looked; there were also odd things like how Matt and Thomas walked with the same athletic swagger, and then there was Lauren and Chris&#8217;s interest in music and singing. 



A video of Lauren and Chris harmonizing as they sang a pitch-perfect rendition of the song &#8220;Speechless.&#8221; 



&#8220;We sound the same,&#8221; Lauren said. &#8220;It&#8217;s crazy.&#8221;



The clip of the two singing encapsulates both literally and figuratively how these strangers, who are also biological siblings, immediately fell into sync and harmonized as a family.



The story&#8217;s tragedy is that Becky didn&#8217;t live to see it. She died about a year before the two families made this connection.&nbsp;



However, the story of how they all found each other with the help of 23andMe has received regional and national media attention. For Brooke, it&#8217;s a story about faith and family, nature and nurture, and the good that comes from allowing another family to have a child. It&#8217;s also expanding how she thinks of family, she said.



These two families might not have joined had Trey and Becky&#8217;s son Thomas not asked for a 23andMe kit for his 18th birthday. There was a little history there. Just a few years before, his dad, Trey, who&#8217;d been adopted, used DNA testing to find his own biological family, ultimately meeting his siblings and birth mom. 



&#8220;For me, it was a positive experience,&#8221; said Trey. &#8220;I know it&#8217;s not always the case.&#8221;



Trey didn&#8217;t want to stand in the way of his kids having that same opportunity.



Thomas eagerly tested. He wasn&#8217;t necessarily looking to find family but was more interested in learning about his biological family background and whether there were any potential health issues he may have inherited. 



&#8220;I wondered if maybe we were something other than Scotch-Irish like my dad,&#8221; Thomas said. &#8220;We weren&#8217;t.&#8221;



While they did find some interesting things about their health, what popped out was a connection to a cousin named Tod — the first biological relative the triplets identified. Thomas reached out, explaining who he was. It was a lucky break because Tod was a family historian who&#8217;d extensively worked on the family&#8217;s genealogy. He is Brooke&#8217;s cousin, and they quickly made the connection.&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="1024" height="734" data-id="32558" src="http://35.88.189.111/wp-content/uploads/2024/02/Lauren-Twins-1024x734.jpg" alt="" class="wp-image-32558" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/02/Lauren-Twins-1024x734.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Lauren-Twins-300x215.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Lauren-Twins-768x551.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Lauren-Twins-880x631.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Lauren-Twins-1180x846.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Lauren-Twins.jpg 2048w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Brooke and her twin boys.</figcaption></figure>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="866" height="1024" data-id="32557" src="http://35.88.189.111/wp-content/uploads/2024/02/Becky-Triplets-866x1024.jpg" alt="" class="wp-image-32557" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/02/Becky-Triplets-866x1024.jpg 866w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Becky-Triplets-254x300.jpg 254w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Becky-Triplets-768x908.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Becky-Triplets-744x880.jpg 744w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Becky-Triplets-998x1180.jpg 998w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Becky-Triplets.jpg 1448w" sizes="auto, (max-width: 866px) 100vw, 866px" /><figcaption class="wp-element-caption">Becky Monroe with her triplets.</figcaption></figure>
</figure>



Soon, Thomas exchanged emails with Brooke and Chris, but he waited to tell them that it wasn&#8217;t just him, that he was one of three siblings. He was worried that the news that they were biological parents of triplets might be too overwhelming. When he eventually told them, they were more than overjoyed. Brooke said she was shaking with excitement, and more than that, she was smitten with the idea that now she didn&#8217;t just have sons but a daughter as well.



<h2 class="wp-block-heading" id="h-siblings-meet-for-the-first-time">Siblings Meet for the First Time</h2>



Brooke and Chris also needed to talk to Thomas&#8217;s dad, Trey. They wanted to stay within the bounds, especially since Becky (Trey’s wife and Thomas’ mom) had only passed the year before. 



Trey sent a note back to them that just made their bond stronger, saying:



&#8220;Thank you for the gift of my children. That&#8217;s all my wife ever wanted.&#8221;&nbsp;



Since then, the two families have built a deeper relationship. They&#8217;ve had chances to meet in person, even going to a large family reunion. Lauren said it&#8217;s been beneficial for her to establish a relationship with Brooke after losing her mother. She&#8217;s always felt a little outnumbered as the only girl in the family.



The two have become quite close.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="472" src="http://35.88.189.111/wp-content/uploads/2024/02/Brooke-Lauren-2-1024x472.jpg" alt="" class="wp-image-32551" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Lauren-2-1024x472.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Lauren-2-300x138.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Lauren-2-768x354.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Lauren-2-880x406.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Lauren-2-1180x544.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2024/02/Brooke-Lauren-2.jpg 2048w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /><figcaption class="wp-element-caption">Lauren with Brooke.</figcaption></figure>



The families have had a lot of time to bond and build relationships. Brooke hopes that their story might also encourage more of those with frozen embryos to donate them to other couples trying to conceive. She&#8217;s tracking the experience of connecting these two families on a Facebook page called &#8220;Love Multiplied,&#8221; she is almost finished writing a book about it all.  Who knows, there may be another chapter in this story; there were five other embryos that Brooke and Chris donated.



&#8220;I believe there are more out there,&#8221; Brooke said.

The Miracle of Connection

Editor&#8217;s Note: We first published this post on the heels of our collaboration with the University of California San Diego researchers. It offers some stark reminders that loneliness has a cost not just on our mental health but our physical health as well. A new report by the Centers for Disease Control reminded us of the growing number of people alone in the United States. It also reminded us of how serious a problem loneliness is for our health, as detrimental to our health as smoking. In light of that report and others looking at the rise in mental health issues among adults, we wanted to resurface this post from 2020.



Humans are social animals. We thrive through contact with other people, and the importance of that connection can be seen by what happens in its absence.



<figure class="wp-block-image aligncenter"><img loading="lazy" decoding="async" width="1254" height="836" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/iStock-1051207682.jpg" alt="Loneliness has an impact on health." class="wp-image-27918" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/iStock-1051207682.jpg 1254w, https://blogcms.23andme.com/wp-content/uploads/2020/01/iStock-1051207682-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/01/iStock-1051207682-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/01/iStock-1051207682-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/01/iStock-1051207682-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2020/01/iStock-1051207682-1180x787.jpg 1180w" sizes="auto, (max-width: 1254px) 100vw, 1254px" /></figure>



Several studies have shown the damaging impact loneliness has on human health. The adverse health effects of loneliness rival that of smoking and obesity, according to <a href="https://www.tandfonline.com/doi/full/10.1080/13607863.2019.1699022">recent studies done by scientists at UC San Diego</a>.







<h2 class="wp-block-heading" id="h-loneliness-a-growing-problem">Loneliness, A Growing Problem</h2>



Growing isolation and loneliness, particularly among the elderly, have prompted public health responses. Two years ago, the United Kingdom created the first national strategy to deal with the <a href="https://www.gov.uk/government/news/pm-launches-governments-first-loneliness-strategy">health consequences of isolation</a>. The National Academies of Sciences have begun to study the problem in the United States.&nbsp;



But beyond trying to combat social isolation, scientists are also researching for possible genetic predispositions toward loneliness. They also look at where those associations might overlap with risks for specific health outcomes.&nbsp;



<h2 class="wp-block-heading" id="h-genetics-also-plays-a-role">Genetics Also Plays a Role</h2>



Two recently completed studies offer compelling evidence of a genetic predisposition toward loneliness. Both studies, which included data from 23andMe and the UK Biobank, found shared genetic associations between loneliness and other conditions like cardiovascular disease, as well as psychiatric and metabolic disorders.



­­One study, led by researchers at the University of California at San Diego, found a clear association between loneliness and coronary artery disease, particularly among women. The study, published in <a href="https://academic.oup.com/hmg/article/28/22/3853/5568316">Human Molecular Genetics</a>, used data from more than half a million individuals. The researchers found 19 variants associated with a predisposition toward loneliness. Those variants were also associated with cardiovascular disease, as well as some psychiatric and metabolic disorders. Associations between major depressive disorder, loneliness, and heart disease have been described in <a href="https://www.sciencedirect.com/science/article/abs/pii/S104727971200292X">previous studies.&nbsp;</a> However, this study found that the associations are partly explained by genetics.



In another Vanderbilt University Medical Center study, researchers used electronic medical records and data from 23andMe, the UK Biobank, and others. That study looked at the connections between loneliness, major depressive disorder, and coronary artery disease. That study found that individuals with genetic risk for loneliness and major depressive disorder were more likely to have clinical diagnoses for coronary artery disease. This association was stronger in women than men, and the effect was specific to loneliness.



The studies come amid <a href="https://www.nia.nih.gov/news/social-isolation-loneliness-older-people-pose-health-risks">increased attention</a> to the genuine public health consequences of loneliness, particularly among older people. The researchers suggest that understanding conditions associated with loneliness could help develop ways to <a href="https://www.bostonglobe.com/metro/2020/01/20/researchers-health-officials-call-for-unified-approach-loneliness-and-social-isolation/0Jqne5IjuDL1f9fg84xJBL/story.html">address the issue</a>.



<h2 class="wp-block-heading" id="h-find-out-more">Find Out More</h2>



23andMe does not have a report on loneliness, but 23andMe+ members can learn about conditions associated with loneliness, such as their genetic predisposition toward <a href="https://you.23andme.com/reports/prs.depression/">Depression</a> and <a href="https://you.23andme.com/reports/prs.anxiety/">Anxiety</a>.



Current 23andMe Health + Ancestry Service customers on the current genotyping chip can receive this report and 35+ other reports by joining 23andMe+ from within their accounts.



 Not a 23andMe+ customer yet?<a href="https://www.23andme.com/compare-dna-tests/" target="_blank" rel="noreferrer noopener"> Learn more about what 23andMe has to offer here</a>.

The Genetics of Loneliness and its Impact on Health

The FDA cleared 23andMe <a href="https://www.23andme.com/therapeutics/">Therapeutics</a> to begin dosing patients with advanced solid tumors as part of a Phase I clinical trial for a new investigational cancer drug.&nbsp;



This clinical trial, to begin later this year, will be the Company&#8217;s second clinical trial for a cancer drug. The first, 23ME-00610, <a href="https://investors.23andme.com/news-releases/news-release-details/23andme-initiates-phase-1-clinical-trial-first-wholly-owned?_gl=1*6ipvci*_ga*MTQxMjAyNTMyNC4xNzA0OTE0NjI0*_ga_G330GF3ZFF*MTcwNjEzOTU1Mi41LjEuMTcwNjEzOTk4My4wLjAuMA..">begun in early 2022</a>, is now enrolling patients in the Phase 2a portion of its Phase 1/2a  clinical trial. 



<h2 class="wp-block-heading" id="h-the-new-investigational-cancer-treatment">The New Investigational Cancer Treatment</h2>



The new drug, 23ME-01473, or ‘1473, is designed to restore anti-tumor immunity by activating two types of immune cells — Natural Killer (NK) cells and T cells. It binds to ULBP6, a protein that binds to the immune-activating receptor NKG2D on NK and T cells.



&#8220;The team is excited to initiate our next immuno-oncology program, ‘1473, which is particularly interesting given its two mechanisms of action, which may synergize to enhance NK and T cell immunity against certain tumors,&#8221; said Jennifer Low, MD, Ph.D., Head of Therapeutics Development at 23andMe.



Typically, cells express ULBPs on their surface in response to a stressor such as an infection or cancer to signal to NKG2D on immune cells that there is an abnormality. However, some cancers shed ULBP6 from the cell surface, which acts as a decoy to evade immune cell recognition through NKG2D.



<h2 class="wp-block-heading" id="h-immune-activation">Immune Activation</h2>



By binding the shed ULBP6, immune activation through NKG2D activation may restore the immune cells&#8217; ability to recognize and fight cancer. 



Additionally, the fragment crystallizable (Fc) region of &#8216;1473 is designed to further promote cancer cell killing by immune cells, offering another mechanism for anti-tumor activity.



Part of 23andMe Therapeutics&#8217; mission is to create new treatments to address unmet needs. The hope is that ‘1473 could help cancer patients with tumors resistant to other therapies. Combining NK and T cell activation as part of this process could initiate a broader and deeper immune system response and delay tumor resistance, often seen with traditional checkpoint inhibitor treatments for these cancers.



As with other Phase 1 clinical trials, this one will assess safety and identify a safe and efficacious dose level and frequency for this newly developed drug in a small group of cancer patients.



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



Learn more about <a href="https://therapeutics.23andme.com/">23andMe Therapeutics</a>, its <a href="https://therapeutics.23andme.com/pipeline-programs/">pipeline, and programs</a> at the updated website <a href="https://therapeutics.23andme.com/about/">here</a>.

23andMe’s Second Clinical Trial of New Investigational Cancer Treatment

Emily&#8217;s deep curiosity drew her to try 23andMe, but she didn&#8217;t anticipate being floored by what she would learn.



&#8220;I was interested in the health information, of course,&#8221; said Emily, a mother of three who runs a small business and farm in Ohio with her husband. &#8220;But I guess the bigger part of why I tested is I&#8217;m just curious. I&#8217;m interested in history, genealogy, science, and the fun stuff that DNA can tell you. I didn&#8217;t expect this.&#8221;



Her results offered her a layer of information about her health and traits, and then something entirely unexpected expanded what she understood about herself and her family.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="769" height="1024" src="http://35.88.189.111/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-769x1024.jpeg" alt="" class="wp-image-32429" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-769x1024.jpeg 769w, https://blogcms.23andme.com/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-887x1180.jpeg 887w, https://blogcms.23andme.com/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-225x300.jpeg 225w, https://blogcms.23andme.com/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-768x1022.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-661x880.jpeg 661w, https://blogcms.23andme.com/wp-content/uploads/2023/12/583F2C4C-8CF4-4976-B279-C04DA30B16B7-scaled.jpeg 1923w" sizes="auto, (max-width: 769px) 100vw, 769px" /></figure>



She first focused on the health reports when she got her results in early 2023. Emily, who is in her 30s, was increasingly aware that prevention was a much better approach to her health than simply treating something after you&#8217;ve already gotten sick. She wanted to know if she had any genetic health risks for things like <a href="https://blog.23andme.com/articles/23andme-updates-brca1-2-report">breast and ovarian cancer</a>*, <a href="https://www.23andme.com/en-eu/topics/health-predispositions/hereditary-thrombophilia/">blood clots</a>*, or her likelihood for certain <a href="https://blog.23andme.com/articles/heart-health-2">heart </a>conditions that she should know about and try to prevent with the help of her doctor.&nbsp;



She learned instead that she had an increased genetic likelihood for type 2 diabetes. It surprised her because she&#8217;s active and in good shape. But while lifestyle and diet play a significant role in whether one develops type 2 diabetes, genetics is also a factor.



&#8220;It&#8217;s something for me to keep an eye on and take seriously,&#8221; said Emily, who is very health conscious. &#8220;That was probably the most valuable health information for me.&#8221;



<h2 class="wp-block-heading" id="h-a-dna-surprise">A DNA Surprise</h2>



After learning a bit more about her health, Emily turned to her ancestry reports. That was when her jaw hit the floor.



&#8220;I saw that I shared 25 percent of my DNA with someone I didn&#8217;t know,&#8221; Emily said.



Customers have the option of opting into the DNA Relatives feature. DNA Relatives connects customers to other 23andMe customers who have also opted in, from close relatives to more distant third or fourth cousins.



In Emily&#8217;s case, she and an unknown relative named Eric shared 25 percent of their DNA. The DNA Relative feature predicted Eric was her uncle. Emily is in her 30s, while Eric is in his 50s. She called her sister.&nbsp;



At first, she wondered if maybe her grandfather had had a child they never knew about, but quickly looking at a dropdown list of other relatives who share 25 percent, she saw that half-brother was one of them. That made more sense. Then, she read the information Eric shared in his profile. He had been adopted and didn&#8217;t know much about his birth parents, only that his mom was a teenager when he was born.&nbsp;



Emily wanted to understand the connection, so she sent Eric a message.&nbsp;



<h2 class="wp-block-heading" id="h-a-conversation-begins">A Conversation Begins</h2>



Eric responded quickly, and the two exchanged messages back and forth before getting on the phone to talk the next day. They quickly determined that Eric was Emily&#8217;s half-brother.



&#8220;I never dreamed I&#8217;d find a brother,&#8221; she said.



They quickly determined that perhaps when Emily&#8217;s dad was a 16-year-old high school student, he&#8217;d fathered a son he didn&#8217;t know about. Eric knew his birth mother&#8217;s name. Many years ago, he&#8217;d tried to contact her or her family, but her family turned him away.&nbsp;



He learned that she had passed away sometime after he&#8217;d reached out to her family. Emily wanted to see if her dad knew the name, so she found time to talk to her dad privately. She asked him if he remembered the woman&#8217;s name. He did. She told him about Eric. He was surprised but not as surprised as she thought he&#8217;d be. They then told Emily&#8217;s mom.&nbsp;



Emily&#8217;s dad then explained that he&#8217;d had a girlfriend for two years in high school. They were both very close. Her dad had had a rough couple of years after his mom had died when he was 12. He was kind of on his own, and at least from the outside, it might not have looked like he had a future. At some point, after he&#8217;d been in a bad car accident, his girlfriend&#8217;s father asked him what his intentions were toward his daughter. He&#8217;d told him he had strong feelings for her, but soon after that, the family moved. The relationship ended after that. Looking back, Emily said her father thinks that maybe his girlfriend&#8217;s parents whisked her away, fearing their daughter might marry someone with few prospects. It wasn&#8217;t long after that she had Eric and put him up for adoption.&nbsp;



<h2 class="wp-block-heading" id="h-building-family-nbsp">Building Family&nbsp;</h2>



While Emily wanted to be careful and sensitive during this process, she felt that her mom and dad were open to talking about it all and even to Eric.&nbsp;



At some point, after learning more about the back story, Emily got Eric on the phone.



After talking with everybody, Emily gave her dad some private time to talk to Eric and answer some of his questions.



&#8220;Hearing that they all appreciated how I handled it was important for me,&#8221; Emily said.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="225" height="300" src="http://35.88.189.111/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-225x300.jpeg" alt="" class="wp-image-32426" style="aspect-ratio:1;object-fit:cover" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-225x300.jpeg 225w, https://blogcms.23andme.com/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-887x1180.jpeg 887w, https://blogcms.23andme.com/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-768x1022.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-769x1024.jpeg 769w, https://blogcms.23andme.com/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-661x880.jpeg 661w, https://blogcms.23andme.com/wp-content/uploads/2023/12/85CE27C7-4200-4FAF-AD0C-39966BC81C05-scaled.jpeg 1923w" sizes="auto, (max-width: 225px) 100vw, 225px" /></figure>



Not too long after, they all met at a park and had coffee. Soon, they were talking regularly. Emily&#8217;s dad, who liked to write poems, sent a couple of letters to Eric with poems he&#8217;d written. It was something he&#8217;d done for a long time for his daughters. Now they talk almost every day. A few months in, Eric and his wife came over for a cookout to meet the extended family, cousins, aunts, and uncles.&nbsp;



&#8220;Everyone welcomed him right away,&#8221; Emily said. &#8220;It&#8217;s like family now.&#8221;



<h2 class="wp-block-heading" id="h-building-relationships">Building Relationships</h2>



But they are all still getting to know each other. Emily and her sister and relatives immediately noticed the resemblance. Eric does look like one of Emily&#8217;s uncles. Everyone said he was family once they saw his picture or him in person. 



But there are other things beyond appearances. Eric owns a print shop, and there&#8217;s an artistic bent in the family, Emily said. There are mannerisms and this enormous love of animals that they all share. Eric has several dogs. Emily owns a menagerie of animals on the farm and is especially fond of parrots. Over time, Eric started referring to their dad as Pop, which Emily and her sister&#8217;s children call their dad. It also happens to be how people once shortened their Slovak last name. It&#8217;s as if they were all meant to connect.



&#8220;There are familial similarities, personality, ways we interact, and things,&#8221; said Emily. &#8220;There hasn&#8217;t been any awkwardness.&#8221;



<h2 class="wp-block-heading" id="h-connecting-it-all">Connecting it all</h2>



Emily is most proud that what could have been difficult or potentially painful was the opposite. She understands that this kind of family surprise doesn&#8217;t always end well. It can mean different things to different people.



She points out that Eric, who didn&#8217;t have connections to their biological family, is learning things many of us take for granted.&nbsp;



&#8220;Our genetics say so much about us and our family,&#8221; said Emily. &#8220;I mean, for someone who is adopted, knowing this health stuff can be so important. How would an adoptee know if, say, their grandfather had a thyroid condition or their dad had diabetes?&#8221;



But then there are many seemingly little things, &#8220;breadcrumbs,&#8221; as Emily says, that suddenly resonate or give context to their lives—things like personality, interests, and even their Slovak heritage.



&#8220;For him, it&#8217;s probably more helpful than I can imagine,&#8221; she said.



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



<h2 class="wp-block-heading" id="h-disclaimer">Disclaimer</h2>



*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports that are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva to report and interpret genetic health risks and report carrier status. 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. Our carrier status reports can be used to determine carrier status but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child&#8217;s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk.&nbsp;



<h2 class="wp-block-heading" id="h-warnings-amp-limitations-nbsp">Warnings &amp; Limitations:&nbsp;</h2>



The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person&#8217;s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. 



This report does not represent most of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers. The absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. 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 and carrier status report, visit 23andme.com/test-info/

Using DNA to Explore Health and Family Connections

This week, researchers with the National Institutes of Health, in collaboration with 23andMe and about a dozen other groups, published the largest to-date genetic study of Parkinson&#8217;s disease. Notably, it is the first large-scale genetics study of Parkinson’s disease to include data from individuals from multiple ancestral populations.



Published in the journal <a href="https://www.nature.com/articles/s41588-023-01584-8.epdf?sharing_token=_D_bR6RYhWNv-TYITSaVttRgN0jAjWel9jnR3ZoTv0MXLm2Fcn84JM_K3Fp4sgRswhuaAdlB2YPeuqpzsoI4MNKvJ3ljhWd2AOqIu5CRZBmOYMtU0l3QuUcQvSvB9lDR9R0VTfDpb2CfE5JsA2S-EJ002gfivBBL_MR3GeWsgps%3D">Nature Genetics</a>, the study identified a dozen genetic loci not previously known to be associated with Parkinson&#8217;s. In addition, it confirmed 66 other known loci associated with this incurable neurodegenerative disease. It also found that some variants were associated with risk across all the populations studied.



<h2 class="wp-block-heading" id="h-the-importance-of-diversity-in-research">The Importance of Diversity in Research</h2>



This study is a reminder of the need to include more diverse populations in research, and it also highlights the potential for 23andMe to do just that. The study identified four novel gene regions associated with Parkinson&#8217;s that have different effects on different populations — in this case, people of European, East Asian, Latin American, and African ancestry.&nbsp;



However, even though this was a multi-ancestry study, there was far more data from people of European ancestry. In addition, the smaller numbers of people from non-European populations in the study meant that some of the ancestry-specific findings failed to reach statistical significance. According to the researchers, this highlights the need for more data from non-European populations to fully power this kind of research.



By including diverse populations in research, it ensures that scientists can identify population-specific genetic variations that may play a role in a disease like Parkinson&#8217;s. There is currently no other study cohort with the scale and diversity of 23andMe, which has millions of participants from diverse backgrounds who are both engaged and consented to participate in a wide variety of genetic research. However, even with the diversity of its dataset, 23andMe continues to focus on encouraging more people of non-European ancestry to participate not just in our research but the research of our collaborators.



<h2 class="wp-block-heading" id="h-23andme-parkinson-s-research">23andMe Parkinson&#8217;s Research</h2>



The study is one of many different projects 23andMe has engaged in since launching its Parkinson’s disease research program in 2009.&nbsp;



Just this week, in another collaboration between 23andMe and the NIH, researchers <a href="https://www.nature.com/articles/s41531-023-00608-8#Sec5">published a study</a> analyzing about 1,000 rare variants previously associated with Parkinson’s disease. Published in the journal <a href="https://www.nature.com/articles/s41531-023-00608-8#Sec5">Nature</a>, the paper included data from more than three million people that included about 30,000 individuals with Parkinson’s. The study was noteworthy not so much for identifying rare variants but for determining that many of these variants previously identified as associated with the disease may not in fact play a role in Parkinson’s afterall.  The study did however confirm the strong association between variants in the LRR2 and GBA1 genes and Parkinson’s.



23andMe scientists study many conditions and traits, but research into Parkinson&#8217;s disease is particularly important because of our long-term commitment to studying this condition, which affects <a href="https://www.parkinson.org/understanding-parkinsons/statistics">about a million people in the United States alone</a>.&nbsp;



Parkinson&#8217;s is the second most common neurodegenerative condition behind Alzheimer&#8217;s disease. Parkinson&#8217;s disease leads to a loss of nerve cells in the part of the brain that controls movement. As a result, there are a range of symptoms among those with the condition, and it also progresses differently within people. Symptoms include motor problems, such as tremors, stiffness of the muscles, and slow movements, as well as non-motor symptoms, such as problems with low blood pressure on standing, constipation, or sleep disturbances.



Our Parkinson&#8217;s disease research was one of the first disease-specific “deep dive” research projects 23andMe undertook, and it offered a model for other disease research. In the last 14 years, our Parkinson&#8217;s research efforts have reached several milestones, and that wouldn&#8217;t have been possible without our research participants or the vital assistance of our collaborators at <a href="https://www.michaeljfox.org/">The Michael J. Fox Foundation</a>.&nbsp;



We currently have more than 30,000 people with Parkinson&#8217;s disease who have consented to participate in our Parkinson&#8217;s research, and another 500,000 people without Parkinson&#8217;s disease who are also participating in our research efforts. Those participants have helped 23andMe scientists and our collaborators complete work leading to 30 published papers, including ten since 2020 alone. These studies have also identified almost 100 new genetic variants associated with Parkinson&#8217;s disease.&nbsp;



<h2 class="wp-block-heading" id="h-learning-from-lrrk2-nbsp">Learning from LRRK2&nbsp;</h2>



23andMe researchers are currently studying non-genetic traits that may help in diagnosing Parkinson&#8217;s disease earlier, as well as identifying <a href="https://www.biorxiv.org/content/10.1101/604033v1">putative causal risk factors</a> that influence the age of onset of the illness.&nbsp;



Our scientists are also learning more about how to characterize different types of Parkinson&#8217;s; for example, we are currently studying the LRRK2 G2019S founder mutation, which is the most common cause of “genetic” Parkinson&#8217;s. Our LRRK2 cohort is three times the size of the next largest research cohort of people with this condition. Known as the Parkinson&#8217;s Impact Project, or PIP, our researchers are learning a lot from this study.&nbsp;



For example, people with this LRRK2 variant tend to see a slower disease progression with fewer non-motor symptoms. They&#8217;re also much more likely to be of Ashkenazi Jewish descent, which relates to the history of the LRRK2 G2019S founder mutation history. It is thought to have originated from a Berber founder from North Africa more than 5,000 years ago, and later flowed into the Jewish community that eventually migrated into central Europe.&nbsp;



This study also highlights another aspect of our research. Differences in the symptoms suggest that different map areas of the brain may be less affected in LRRK2 Parkinson&#8217;s disease. This will help researchers distinguish the various subtypes of Parkinson&#8217;s disease.



For instance, individuals with the LRRK2 variant have lower rates of <a href="https://www.michaeljfox.org/news/ask-md-acting-out-dreams-and-parkinsons-disease">REM sleep behavior disorder</a>, or RBD. This symptom includes acting out of dreams during sleep. RBD is much more common in people with idiopathic Parkinson&#8217;s disease, or Parkinson&#8217;s that is caused by some unknown cause rather than by genetics. Loss of smell is also a symptom of Parkinson&#8217;s disease, but people with LRRK2 G2019S have lower rates of loss of smell. In addition, people with LRRK2-associated Parkinson&#8217;s have fewer cognition issues.&nbsp;&nbsp;



Data like this helps inform scientists about the disease and its progression, and can inform the prognosis. 23andMe scientists are working on ways to better identify people at risk of Parkinson&#8217;s and better understand how the disease may manifest and progress in those individuals.



<h2 class="wp-block-heading" id="h-ongoing-research">Ongoing Research</h2>



<a href="https://www.23andme.com/pd/">23andMe&#8217;s Parkinson&#8217;s disease research program</a> is unique in that it allows for continued engagement with participants. Scientists are better able to track changes and understand the progression of Parkinson&#8217;s. Having people who are engaged in this research over time also allows our scientists to nimbly add new dimensions to their investigations into this disease.&nbsp;



For example, one of our postdoctoral fellows, Keaton Stagaman, recently completed a small-scale pilot study in collaboration with The Michael J. Fox Foundation, looking at the <a href="https://blog.23andme.com/articles/parkinsons-disease-and-the-microbiome">gut and oral microbiomes of people with Parkinson&#8217;s</a>. It turned out to be the largest single study to test the relationship between the oral and gut microbiomes in Parkinson&#8217;s disease.&nbsp;



Another common symptom of Parkinson&#8217;s is intestinal problems, such as constipation. Over the last few years, much focus has been on the <a href="https://www.nccih.nih.gov/news/events/4-fast-facts-about-the-gutbrain-connection">gut-brain connection</a> and its relationship with disease. Our researchers wanted to understand whether the gut microbiome might play a vital role in the pathological onset of Parkinson&#8217;s disease. Our researchers are still digging through this data and plan to follow up with a much larger study later this year, including healthy controls.



We will eventually publish our research findings on this study and others, and share that information with our research participants. Finding better early-detection methods may be critical in modifying the impact of this neurodegenerative disease. Earlier intervention could help prevent the loss of neurons and stave off the worsening of symptoms, for instance. Understanding how Parkinson&#8217;s disease manifests and progresses among different people is also important.



None of this work would be possible without those individuals — both with Parkinson’s disease and those who do not have it — who’ve consented to participate in 23andMe research.



 Learn more about <a href="https://www.23andme.com/pd/">23andMe&#8217;s Parkinson&#8217;s disease research here</a>.

Large Study on Parkinson’s Disease Includes Understudied Populations

Analyses of large genotyped and phenotyped datasets can provide valuable information for therapeutic development and research. Many sizable genetic research data sets have been used for this purpose, such as the UK Biobank, the Million Veterans Project, and the NIH&#8217;s All of Us.



What is unique about 23andMe&#8217;s approach is that we have data at a scale that significantly exceeds many other entities. The size of our data increases our ability to detect disease associations with a given genotype and identify individuals with unique genomic composition for participation in additional research opportunities.



Early results from a <a href="https://blog.23andme.com/articles/searching-for-unique-genes">pilot project 23andMe launched this year</a> inspired us to look deeper into our Research Cohort at the gene MAP3K15, where previous research found a loss of function variant that protects people against developing type 2 diabetes.



If someone has a loss of function variant, for example, the MAP3K15 loss of function variant, and they are healthy, it tells scientists that turning off that gene could be safe. Knowing that a loss of function variant is not deleterious is incredibly important for drug development. Understanding this helps not just with target validation but with potentially de-risking and safety concerns around developing therapeutics that might turn off the expression of that gene.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="703" height="443" src="http://35.88.189.111/wp-content/uploads/2024/01/image.png" alt="" class="wp-image-32464" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/01/image.png 703w, https://blogcms.23andme.com/wp-content/uploads/2024/01/image-300x189.png 300w" sizes="auto, (max-width: 703px) 100vw, 703px" /></figure>



<h2 class="wp-block-heading" id="h-unique-insights-into-map3k15">Unique Insights into MAP3K15</h2>



Our researchers wanted to see if the size of the 23andMe database could enable additional insight into the metabolic role of MAP3K15 that might not have been discoverable in other datasets. The findings from this work was recently published on the <a href="https://www.medrxiv.org/content/10.1101/2024.01.09.24301012v1">preprint server MedRxiv</a>.



For this study we performed various genetic analyses for MAP3K15 to see what we could learn from the &gt;11 million consented customers in the 23andMe Research Cohort. In addition to confirming the protective effect for diabetes, analysis of our database resulted in several new insights for MAP3K15 loss of function (LoF):



<ol class="wp-block-list">
<li>MAP3K15 LoF is associated with an increased risk of high blood pressure&nbsp;</li>



<li>MAP3K15 LoF is associated with a decreased risk of high cholesterol</li>



<li>Among individuals determined to be at a high genetic risk for type 2 diabetes, those who also have MAP3K15 LoF show a potential 4.5-year delay in the median age of disease onset compared to non-carriers</li>
</ol>



<h2 class="wp-block-heading" id="h-genetics-driven-recruitment">Genetics-driven Recruitment</h2>



We wanted to know if we could establish a recruitment capability to obtain clinical laboratory evidence for the new MAP3K15 findings from genetic analyses of the 23andMe database. Because we have a very, very large number of people who have consented to participate in this additional level of research, we could readily identify potential research participants of interest with the protective MAP3K15 loss of function variant.



In this study, we were particularly interested in clinical lab values related to participant blood pressure and high cholesterol in individuals with or without a particular loss of function variant in MAP3K15. To obtain these lab values and biobank blood samples from consented participants, we set up a research protocol to recruit participants nationwide to answer survey questions and participate in a blood draw. This protocol was reviewed and approved by an Institutional Review Board (an independent ethical and regulatory review board) to ensure protection for the rights and welfare of our study participants.



Results from this pilot study enabled us to find evidence supporting our database findings, including elevated systolic blood pressure, reduced cholesterol levels, and lower LDL/HDL ratio in 23andMe participants with the protective variant compared to controls without the variant.



<div style="float: right; text-align: justified; width: 400px; background-color: #eee; padding: 15px; margin-left: 10px;">Research Opportunities Based on Your Unreported Genetics

The participants in this study represent a group of our research participants who&#8217;ve gone through an additional layer of consent.

For this research, our research participants have opted-in to being contacted by our researchers about research opportunities based on genetic information not included in their 23andMe reports.

These research opportunities might be related to specific conditions for which we do not yet have a report. Those who agree to participate and who are contacted for specific studies may only learn about the condition being studied but not the specific variant.

Like all our research, participants must opt in to be included, and those currently participating can change their minds and then opt out at any time.

Learn more <a href="https://therapeutics.23andme.com/collaborations/">here</a>.</div>



<h2 class="wp-block-heading" id="h-dna-driven-discoveries">DNA-Driven Discoveries</h2>



This recruitment capability opens a whole host of capabilities for researchers. Dubbed &#8220;The DNA-Driven Discoveries Study,&#8221; this genetics-driven recruitment approach could potentially inform drug target safety concerns, improve patient selection and efficacy in clinical trials while also helping to identify hard-to-find drug targets, rare genetic variants and even reveal more about the underlying biology of certain conditions.



&#8220;I&#8217;m not aware of any other entity out there with this capability and scale,&#8221; said Jen Brady, Ph.D., a senior scientist in 23andMe&#8217;s Therapeutics division who helped lead the study. &#8220;We&#8217;re leveraging the discovery power of what is the world&#8217;s largest re-contactable genetic database. 



Our (DNA-Driven Discoveries) study allows 23andMe scientists to recontact consented individuals based on genetic variants they may have but do not know about. Contacting these individuals based on their genetics is a key capability for 23andMe. It could help inform drug discovery efforts for 23andMe and our collaborators, improve how we create genetic research hypotheses, and help us build an internal deeply-phenotyped biobank.&#8221;



<h2 class="wp-block-heading" id="h-next-steps">Next Steps</h2>



We believe the ability to identify, recruit, and characterize research participants based on genetics unknown to them is a critical capability for 23andMe to inform drug development and genetics research.



Future studies using this method could enable similar recruitment and study designs for other conditions. They could also potentially help in clinical trials as we determine a drug’s efficacy and potential toxicity, modeling control and treatment arms. It may also help recruit family members, which could increase power for studying, especially rare variants that might run in families. We may also use this genetic-driven research to test the validity or interpretation of some self-reported data from research participants.&nbsp;



These <a href="https://therapeutics.23andme.com/our-platform/">DNA-driven discoveries</a> will improve our important work and may lead to important insights into the treatment and diagnosis of disease.&nbsp;



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