23andMe and the non-profit Sickle Cell 101 have joined forces to expand our efforts in raising<a href="https://www.23andme.com/sickle-cell-awareness-program/"> awareness about people’s sickle cell carrier status</a>.



<h6 class="wp-block-heading" id="h-the-sickle-cell-awareness-program">The Sickle Cell Awareness Program</h6>



We are launching this program just as we commemorate Sickle Cell Awareness Month in September. The project will include offering the 23andMe Health + Ancestry Service for free to a limited number of individuals.* In addition, participants will have access to<a href="https://www.sc101.org/sicklecelltrait/"> Sickle Cell 101’s</a> online education tools and genetic counselors.



23andMe’s Health + Ancestry Service includes a<a href="https://www.23andme.com/topics/carrier/sickle-cell-anemia/"> Sickle Cell Anemia Carrier Status report.*</a>* This allows participants to learn their carrier status. 23andMe’s report includes extensive information about what it means to be a carrier of the sickle cell trait. But this collaboration also gives those with additional questions a place to go for answers. For instance, if a person has questions about the differences between having sickle cell trait — a carrier of sickle cell anemia with one copy of the HbS variant — versus having sickle cell disease, they can discuss this with a Sickle Cell 101 genetic counselor. Sickle Cell 101 is the largest global online platform for sickle cell education, awareness, and research.&nbsp;



“This project builds on what we’re already doing at 23andMe,” said Joyce Tung, PhD, 23andMe’s Vice President of Research. “We have research projects underway and an ongoing awareness campaign focused on sickle cell. Partnering with Sickle Cell 101 will allow us to expand that effort to more people. 23andMe is about empowering people through access to their genetic data to make more informed health decisions, which is exactly what this program offers.”



<h6 class="wp-block-heading" id="h-more-about-sickle-cell-trait-and-sickle-cell-disease">More about Sickle Cell Trait and Sickle Cell Disease</h6>



But much work is needed to raise awareness more broadly about these conditions.



The most commonly known form of sickle cell disease is sickle cell anemia. To have sickle cell anemia, one must inherit two copies of the HbS variant. This would be one copy of the HbS variant from each biological parent. People with just one copy of the HbS variant are called carriers; they’re also said to have <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html">sickle cell trait</a>. They’re not expected to have sickle cell anemia themselves. They typically do not experience any health complications. However, in rare cases, people with the sickle cell trait may experience some health impacts. You can learn more about sickle cell trait from the <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html">CDC</a> and the <a href="https://www.hematology.org/education/patients/anemia/sickle-cell-trait">American Society of Hematology</a>. You can also speak to your healthcare provider or experts at Sickle Cell 101 by contacting <a href="mailto:ask@sc101.org">ask@sc101.org</a>.&nbsp;



Importantly, carriers can pass their variant on to their future children. If their partner has the HbS variant or another variant in the HBB gene, there’s a 25 percent chance that each child may have sickle cell anemia or a related blood disorder.&nbsp;&nbsp;



Other forms of sickle cell disease are also caused by variants in the HBB gene. Instead of having two copies of the HbS variant, like people with sickle cell anemia, people with other types of sickle cell disease have one copy of the HbS variant and another variant elsewhere in the HBB gene. Examples of other types of sickle cell disease include hemoglobin sickle cell disease and sickle beta thalassemia disease.



<div style="float: right; text-align: justified; width: 400px; background-color: #eee; padding: 15px; margin-left: 10px;">Sickle Cell Facts You Need to Know


• A person must have two copies of the HbS variant in the HBB gene to have sickle cell anemia. 

• Typical signs and symptoms of sickle cell anemia include episodes of pain, and frequent infections. 

• People with one copy of the HbS variant are carriers of sickle cell disease (sickle cell trait) who can pass the variant on to their future children. 

• About 1 in 13 African Americans have the HbS variant but the variant can also be found in people from the Caribbean, the Mediterranean, and part of Central and South America. </div>



<h6 class="wp-block-heading" id="h-building-awareness-expanding-research">Building Awareness, Expanding Research</h6>



This project builds on <a href="https://www.23andme.com/sickle-cell/">23andMe’s ongoing awareness program</a> with the<a href="https://www.msm.edu/"> Morehouse School of Medicine</a> and the <a href="https://www.sicklecellga.org/">Sickle Cell Foundation of Georgia, Inc. (SCFG)</a>.&nbsp; The foundation also created a dedicated webpage for program participants. In addition, anyone who is participating in the 23andMe program to access the site and <a href="https://www.livingwellresources.org/geneticcounseling">connect with genetic counselors at SCFG via the following link: Genetic Counseling | Mysite</a>. From those efforts, we learned participants wanted to be able to ask questions about their status. Along with raising awareness about the importance of sickle cell carrier status testing and improving access to testing, this effort will offer additional online resources for people who may have sickle cell trait or have sickle cell disease.



Beyond raising awareness, 23andMe is also committed to learning more about sickle cell through our research. Our scientists are working on sickle cell research, most recently collaborating with scientists at the <a href="https://www.nih.gov/">National Institutes of Health</a> and <a href="https://www.hopkinsmedicine.org/som/">Johns Hopkins University School of Medicine</a>. The study’s <a href="https://blog.23andme.com/articles/new-research-on-sickle-cell-trait">initial findings</a> were presented at the American Society of Hematology’s annual meeting in 2022, but have not yet been published. It is now the largest and most diverse genetic study of sickle cell trait.&nbsp;



More broadly, this effort will help with 23andMe’s efforts to improve the diversity of our research, as participants in the program have the opportunity to consent to participate in research if they choose, which will enable other studies like the Sickle Cell trait research above.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="538" src="http://35.88.189.111/wp-content/uploads/2023/06/Open-Graph-Image-1024x538.png" alt="An illustration for 23andMe's Sickle Cell Carrier Statues Awareness Program." class="wp-image-31918" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-1024x538.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-768x403.png 768w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-880x462.png 880w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-1180x620.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h6 class="wp-block-heading" id="h-23andme-s-sickle-cell-anemia-carrier-status-report">23andMe’s Sickle Cell Anemia Carrier Status Report**</h6>



23andMe’s<a href="https://www.23andme.com/topics/carrier/sickle-cell-anemia/"> Sickle Cell Anemia Carrier Status Report</a>, which meets FDA requirements for clinical and analytical validity, looks at the HbS variant in the HBB gene, which is linked to sickle cell anemia.



Sickle cell anemia is the most severe form of sickle cell disease. Three-hundred-million people worldwide and one in 13 Black and or African Americans in the United States have sickle cell trait, making them carriers for sickle cell anemia.



In addition to informing people if they have one copy of the HbS variant and are carriers for sickle cell anemia, 23andMe&#8217;s report can also tell individuals if they have two copies of the tested variant and if they are at risk of developing symptoms of the condition. But the report does not describe one’s overall risk of developing symptoms.&nbsp;



Because the HbS variant is more common in certain populations, the Sickle Cell Anemia report is most relevant for people of African descent, as well as people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.



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



<h6 class="wp-block-heading" id="h-eligibility">*Eligibility:</h6>



· You live in the United States



· You are at least 18 years old



· You have African ancestry; identify as Black, African American, or of African descent; or you have ancestry from a region where sickle cell disease is common†



· You are willing to provide a saliva sample for DNA testing



· You are willing to agree to 23andMe’s<a href="https://www.23andme.com/legal/terms-of-service/"> Terms of Service</a> and<a href="https://www.23andme.com/legal/privacy/"> Privacy Statement</a>



· Research consent is optional and not required for participation in the program



†Regions include Africa, the Middle East, South Asia, the Caribbean, Mediterranean Europe/Asia, Central and South America.



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



<h6 class="wp-block-heading" id="h-note">Note:</h6>



**The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. 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 or anything about the health of your fetus, or your newborn child’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. For important information and limitations regarding other genetic health risk reports and carrier status reports, click <a href="https://www.23andme.com/test-info/">here</a>.



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

23andMe Blog

23andMe Blog Team

Allied in Raising Sickle Cell Awareness

A new study led by scientists who are part of the <a href="https://gp2.org/">Global Parkinson’s Genetic Program</a> has revealed important insights into Parkinson&#8217;s disease among people of African and mixed African ancestry, which has been largely unexplored until now.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="625" src="http://35.88.189.111/wp-content/uploads/2018/04/World-Map-1024x625.png" alt="A multi-colored image of world map, showing countries." class="wp-image-26132" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/04/World-Map-1024x625.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/04/World-Map-300x183.png 300w, https://blogcms.23andme.com/wp-content/uploads/2018/04/World-Map-768x469.png 768w, https://blogcms.23andme.com/wp-content/uploads/2018/04/World-Map-880x537.png 880w, https://blogcms.23andme.com/wp-content/uploads/2018/04/World-Map-1180x721.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/04/World-Map.png 1600w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



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



The Global Parkinson’s Genetic Program includes scientists working at dozens of institutions worldwide. This includes researchers at 23andMe as well the Nigerian Parkinson Disease Research Network, which includes universities and hospitals across Nigeria. In addition, the Global Parkinson’s Genetic Program includes scientists who are part of the Black and African American Connections to Parkinson’s Disease Study (BLAAC PD) study group. Scientists at the NIH, the <a href="https://www.michaeljfox.org/">Michael J. Fox Foundation</a>, the University of Lagos in Nigeria, and University College London as well as a half dozen hospitals and universities in the United States are part of this group.



&#8220;This is proof of principle for the Global Parkinson&#8217;s Genetics Program showing that increasing diversity and inclusivity in genetics studies can efficiently deliver novel insights,&#8221; said Dr. Sara Bandres Ciga, staff scientist at the NIH’s National Institute on Aging. 



<h2 class="wp-block-heading" id="h-african-research-institutions">African Research Institutions</h2>



Published in the journal <a href="https://www.sciencedirect.com/science/article/abs/pii/S1474442223002831?via%3Dihub">Lancet Neurology</a>, the research represents the first genome-wide association study of Parkinson&#8217;s disease in African and African admixed populations.&nbsp;



The Global Parkinson’s Genetic Program draws together data from existing research cohorts, then makes that data available for genetic research into Parkinson’s disease, making work like this possible.



“As researchers and clinicians, our shared responsibility is to make sure Parkinson’s science is representative of all communities around the world,” said Njideka Okubadejo, MD, Professor of Neurology at the University of Lagos, College of Medicine. “This GBA1 result is a step toward that future, where the research field is prioritizing, learning from, and treating all people with Parkinson’s disease.”&nbsp;&nbsp;&nbsp;



<h2 class="wp-block-heading" id="h-a-novel-variant-in-gba1">A Novel Variant in GBA1</h2>



 The research identified a novel signal at the GBA1 locus associated with a higher risk for Parkinson&#8217;s disease among people of African descent.



The top variant and potential functional variant is much rarer in people who do not have African ancestry. Although the gene GBA1 is known to be associated with Parkinson&#8217;s disease in other populations through coding variation, it is thought that this variant influences the expression of the gene and the production of glucocerebrosidase, an enzyme also known as GCase. A deficiency in this enzyme is characteristic of the rare genetic disorder Gaucher disease, which can lead to such things as an enlarged liver or spleen and bone abnormalities. In this case, it appears to impact how Parkinson&#8217;s develops in people with African ancestry. This single variant changes the expression of the gene GBA1, which results in decreasing levels of the GCase enzyme.



The study provides some critical insight into disease risk. This novel mechanism may hold promise for potential RNA-based therapeutic strategies, but researchers also believe the new study could inform future GBA1 clinical trials, improving patient stratification.&nbsp;



“Understanding the genetic landscape of diverse populations is not just a nod to inclusivity, but a scientific necessity,&#8221; said Mary B. Makarious, a predoctoral student working at the National Institute on Aging and a co-author of the study. &#8220;Unraveling these genetic factors, such as the variant in the GBA1 gene in people of African descent, offers us novel avenues to explore not just for disease prevention, but also for the development of targeted and potentially more effective treatments. Every discovery like this brings us closer to a more comprehensive understanding of this disease.&#8221;



According to researchers, African admixed populations offer unique opportunities for studying the genetics of both monogenic and complex diseases. This is because these populations contain the world&#8217;s largest portion of genetic variability.&nbsp;



Led by researchers at the Global Parkinson’s Genetic Program, work on the study included contributions from scientists at 23andMe and researchers across Africa. The work was supported by the Global Parkinson&#8217;s Genetics Program, funded by the Aligning Science Against Parkinson&#8217;s initiative, and implemented by The Michael J. Fox Foundation for Parkinson&#8217;s Research.&nbsp;



The study included data from just under 196,000 23andMe customers with African admixed ancestry who consented to participate in research.

Study of Parkinson’s Genetic Risk in African Populations

For World Sickle Cell Day, we want to spotlight the work our researchers and collaborators are doing as part of 23andMe&#8217;s <a href="https://www.23andme.com/sickle-cell">Sickle Cell Carrier Status Awareness Program</a>.



This day is meant to draw attention to those affected by sickle cell disease worldwide and what it means to have sickle cell trait. Raising awareness can help empower people to learn their own sickle cell status and draw attention to the need for further research and treatments for sickle cell disease.



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="538" src="http://35.88.189.111/wp-content/uploads/2023/06/Open-Graph-Image-1024x538.png" alt="" class="wp-image-31918" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-1024x538.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-768x403.png 768w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-880x462.png 880w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image-1180x620.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2023/06/Open-Graph-Image.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h6 class="wp-block-heading" id="h-what-are-sickle-cell-trait-and-sickle-cell-disease">What are Sickle Cell Trait and Sickle Cell Disease?</h6>



An estimated 300 million people worldwide and 1 in 13 Black or African Americans have sickle cell trait, meaning they carry one copy of the HbS variant in the HBB gene.&nbsp;



The HBB gene contains instructions for making part of the hemoglobin protein, which helps red blood cells carry oxygen in our bodies. The HbS genetic variant can cause red blood cells to have a &#8220;sickle&#8221; (or crescent) shape. 



People with sickle cell trait typically do not experience any symptoms unless under extreme conditions, because they usually have enough normal hemoglobin in their red blood cells to compensate. However, if both parents have sickle cell trait their children are at risk of inheriting the form of sickle cell disease known as sickle cell anemia. In people with sickle cell anemia, red blood cells can get stuck in small blood vessels, which can lead to pain crises, organ damage, and other serious complications.



That&#8217;s why understanding whether you have sickle cell trait is so important. Over 100,000 people in the United States are affected by sickle cell disease, disproportionately impacting the Black community.



<h6 class="wp-block-heading">The Sickle Cell Carrier Status Awareness Program</h6>



At 23andMe, we believe that knowledge is power. understanding risks offers people opportunities to mitigate them.&nbsp;



But more than that, 23andMe also offers a unique research model that allows individuals to learn about their genetic likelihood of developing a condition and participate in innovative genetic research that could find new treatments.



As part of our <a href="http://www.23andme.com/sickle-cell">Sickle Cell Carrier Status Awareness Program</a>, 23andMe has collaborated with academics and advocacy organizations to increase understanding of sickle cell. In addition we&#8217;re providing resources for those with sickle cell trait and sickle cell disease. With the help of the Sickle Cell Foundation of Georgia, Breaking the SSickle Cell Cycle, and the Morehouse School of Medicine, we&#8217;re working with Black communities to promote awareness.&nbsp;



As part of that effort, 23andMe offered its Health + Ancestry Service at no cost to Morehouse School of Medicine students, faculty, and staff. The service includes a Carrier Status report on sickle cell anemia.* The Sickle Cell Foundation of Georgia also offered program participants counseling after receiving their 23andMe results. This program is one of many ways 23andMe and the Morehouse School of Medicine work together to increase equity in genetics and genomics.



&#8220;I see this as an opportunity to remove a barrier to screening,&#8221; said Dr. Lametra Scott, Executive Director of the Breaking the SSickle Cell Cycle. “Typically, young adults don&#8217;t get tested. It&#8217;s best to have the information before family planning so you aren&#8217;t blindsided and have options.&#8221;



<h6 class="wp-block-heading">The Power of Research</h6>



23andMe also offers a unique research model that allows individuals to&nbsp; participate in innovative genetic research that could lead to new discoveries and potentially help find new treatments.



So along with empowering people with knowledge of their sickle cell trait status, 23andMe also contributes to sickle cell research.



Most recently, a study in collaboration with researchers from the <a href="https://www.nih.gov/">National Institutes of Health</a> and <a href="https://www.hopkinsmedicine.org/som/">Johns Hopkins University School of Medicine</a> looked at the link between <a href="https://blog.23andme.com/articles/new-research-on-sickle-cell-trait">blood clots and sickle cell trait.</a> The study is believed to be the largest and most diverse <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">genetic study of sickle cell trait</a> ever done. The scientists presented preliminary data from their work in late 2022. When we publish the complete study, we look forward to sharing those results with the community.



<h6 class="wp-block-heading">Learn More</h6>



Find out about <a href="http://www.23andme.com/sickle-cell">23andMe&#8217;s Sickle Cell Carrier Status Program here.</a>



<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 for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. 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 or anything about 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. The Sickle Cell Anemia carrier status report is indicated for the detection of the HbS variant in the HBB gene. The report can tell you if you have two copies of the tested variant, and if you are at risk of developing symptoms of sickle cell anemia, but does not describe your overall risk of developing symptoms. This test is most relevant for people of African descent. It is also relevant for people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America. For important information and limitations regarding each carrier status report, visit&nbsp; <a href="https://www.23andme.com/test-info/">https://www.23andme.com/test-info/</a>

An illustration for 23andMe's Sickle Cell Carrier Statues Awareness Program.

23andMe’s Sickle Cell Carrier Status Awareness Program

23andMe has joined forces with Morehouse School of Medicine and the <a href="https://www.sicklecellga.org/" target="_blank" rel="noreferrer noopener">Sickle Cell Foundation of Georgia</a> to launch a sickle cell carrier status awareness program.



It aims to improve access to sickle cell carrier status information and offer people clearer understanding of the differences between having sickle cell trait — being a carrier of sickle cell disease — versus having sickle cell disease.&nbsp;



<h6 class="wp-block-heading" id="h-the-sickle-cell-carrier-status-awareness-program">The Sickle Cell Carrier Status Awareness Program</h6>



As part of the program, 23andMe will offer its Health + Ancestry DNA testing kits at no cost to students, faculty, and staff at <a href="https://www.msm.edu/" target="_blank" rel="noreferrer noopener">Morehouse School of Medicine</a>. In addition to gaining information about their ancestry and health, participants will also gain access to the Sickle Cell Anemia Carrier Status report.* This service provides participants with information about their ancestry, health and more.  Participants will also be able to learn whether they are a carrier for sickle cell anemia. The report has information about what it means to be a carrier of the sickle cell anemia (also known as having sickle cell trait), and other resources. In addition, the program will also offer participants the opportunity to use counseling services from the Sickle Cell Foundation of Georgia.



“Our goal at 23andMe is to empower people through access to their genetic data, enabling consumers to make better, more informed decisions about their health,” said Joyce Tung, Vice President, Research at 23andMe.



23andMe is also working on sickle cell research, most recently in collaboration with scientists at the <a href="https://www.nih.gov/" target="_blank" rel="noreferrer noopener">National Institutes of Health</a> and <a href="https://www.hopkinsmedicine.org/som/" target="_blank" rel="noreferrer noopener">Johns Hopkins University School of Medicine</a>. The team also recently presented preliminary data from our work on what is now the largest and most diverse genetic study of sickle cell trait ever done.



“In addition to educating more people on certain genetic health risks, we believe this collaboration can contribute to more equitable research in, and product development for, groups of non-European ancestry,” Joyce said.



<h6 class="wp-block-heading">More about Sickle Cell Trait and Sickle Cell Disease</h6>



But a lot of work is needed to raise awareness more broadly about these conditions.



About one in 13 African Americans have the sickle cell trait, meaning that they have one copy of the HbS variant in the HBB gene. In other words, they are carriers of the sickle cell anemia and can pass that variant on to their children. Yet despite the prevalence of the sickle cell trait, many people, even carriers, do not fully understand what it means or how sickle cell disease is inherited.



The most commonly known form of sickle cell disease is sickle cell anemia. To have sickle cell anemia, a person must inherit two copies of the HbS variant — one from each biological parent. People with just one copy of the HbS variant are called carriers; they’re also said to have <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html" target="_blank" rel="noreferrer noopener">sickle cell trait</a>. They’re not expected to have sickle cell anemia themselves, and they typically do not experience any health complications. However, they could pass their variant on to their future children. If their partner has the HbS variant, there’s a 25 percent chance that each child may have sickle cell anemia.  



But there are other forms of sickle cell disease that are caused by other variants in the HBB gene. Instead of having two copies of the HbS variant like people with sickle cell anemia, people with other types of sickle cell disease have one copy of the HbS variant and one copy of another variant in the HBB gene. Examples of other types of sickle cell disease include hemoglobin SC disease and sickle beta thalassemia disease.



<h6 class="wp-block-heading">23andMe’s Sickle Cell Anemia Carrier Status Report</h6>



23andMe’s <a href="https://www.23andme.com/topics/carrier/sickle-cell-anemia/" target="_blank" rel="noreferrer noopener">Sickle Cell Anemia Carrier Status Report</a> looks at the HbS variant in the HBB gene.



The report can also tell individuals if they have two copies of the tested variant, and if they are at risk of developing symptoms of sickle cell anemia, but the report does not describe one’s overall risk of developing symptoms. It is most relevant for people of African descent, people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.



23andMe’s Sickle Cell Anemia Carrier Status report tests for the HbS variant linked to sickle cell anemia, the most severe form of sickle cell disease. Three-hundred-million people worldwide and one in thirteen Black or African Americans in the United States have sickle cell trait, making them carriers for sickle cell anemia.&nbsp;



<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 for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. 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 or anything about the health of your fetus, or your newborn child’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. For important information and limitations regarding other genetic health risk reports and carrier status reports, click <a href="https://www.23andme.com/test-info/">here</a>.

Teaming Up to Raise Awareness About Sickle Cell

By Sarah Woods-Killam*



Claire Curtin and Roxana (Roxy) Wolosenko, two women who played a pivotal role in the success of <a href="https://en.wikipedia.org/wiki/The_Sims">The Sims game</a>, came to 23andMe as part of our Speaker Series for Women’s History Month.



Claire and Roxy shared with us some of the highlights of their careers, experiences, and challenges of working in the largely male-dominated gaming industry.



<figure class="wp-block-image alignright size-large is-resized"><img loading="lazy" decoding="async" src="http://35.88.189.111/wp-content/uploads/2023/04/Womens-History-scaled-e1681233526670-898x1024.jpeg" alt="A photo of Roxana (Roxy) Wolosenko, left, and Claire Curtin." class="wp-image-31568" width="449" height="512"/><figcaption class="wp-element-caption">Roxana (Roxy) Wolosenko, left, and Claire Curtin.</figcaption></figure>



<h6 class="wp-block-heading" id="h-changing-the-game-for-working-mothers-nbsp-nbsp-nbsp">Changing the game for working mothers&nbsp;&nbsp;&nbsp;</h6>



One of the first challenges was finding a balance between raising their children while meeting the demands at work, said Claire. This was especially true for two working moms, in a workplace dominated by men, but it’s what led Claire and Roxy to come up with the idea of job sharing.



“By the time we both had our first children, we went to our HR director at the time, who was a woman, to establish child care without losing our jobs,” said Claire. “We made arrangements to share projects and establish communication to make it seamless, taking turns coming into the office and then together once a week.”&nbsp;



The Sims project continued to be successful and operate smoothly, oftentimes having colleagues mistake them for one another.



For Roxy, the challenges started even before she landed the job. She was pregnant during her interview process, and because there were no laws regarding the discrimination of pregnant people, she worried about telling her interviewer that she was pregnant.



After telling him that she was going to have a child, he said:&nbsp;&nbsp;



“That’s okay, guys get into motorcycle accidents and women get pregnant.”&nbsp;



However, with Claire’s support, Roxy and Claire were able to negotiate maternity benefits and continued working together on The Sims project.&nbsp;



Job sharing during The Sims project, while pregnant and raising children, allowed Roxy and Claire a better work-life balance. But job sharing came with its own challenges, said Roxy. For one, there weren’t many good examples of job sharing to follow at that time. But both women said that working together allowed them to navigate and create a new work environment for working moms.&nbsp;&nbsp;



“My entire career would have been different if Roxy had not been there,” said Claire.&nbsp;



<h6 class="wp-block-heading" id="h-women-in-tech">Women in Tech</h6>



Roxy and Claire were the only women working on The Sims but they had an outsized impact.&nbsp;



“When we began working with each other there were 40 people in product development and out of those 40, we were the only two women,” Roxy said.&nbsp;



The Sims game was originally built for architecture, but they took it in a different direction when they started working on it. They helped make it gender neutral, which in turn ensured that both boys and girls Sims were welcome.&nbsp;



“The big nut to crack was, ‘How do you get girls to play games?’” Roxy said.&nbsp;



<h6 class="wp-block-heading" id="h-life-after-the-sims">Life after the Sims</h6>



After some time working on The Sims, Claire decided it was time for a change.&nbsp;



“I was 49 years old and realized I did not want to make entertainment anymore,” she said. “I asked myself, ‘How many more working years do I have?’”



Claire had other interests, and eventually became a consultant on energy efficiency. She said she was able to do that, in part, with the support of her husband. Her experience also led her to advise women to push for what they want. She tells women that they should speak up if there are any challenges in their career, or when there are individuals with whom you work who are particularly problematic.



Claire said, “The nasty people who are not easy to work with, those that try to wreck your career &#8211;&nbsp; you owe it to yourself to tell management since it is not fair to work. You can outlast someone like that.”



After leaving her work on The Sims, Roxy also decided it was time for a career change. Working in software, she was always staring at a screen and working inside. She said she realized that she found joy and therapy in working outside in the garden or with her hands.



“I needed to work on something where I used my hands, something that was organic and in the real world,” Roxy said.&nbsp;



She started her own landscaping business.&nbsp;



“I felt I was making a difference from one beautiful garden to another, helping people connect with nature,” she said.



<h6 class="wp-block-heading" id="h-words-of-wisdom">Words of Wisdom</h6>



What resonated the most with many of us here at 23andMe was Roxy’s advice toward the end of the talk.&nbsp;&nbsp;



“I think the important thing as a woman is to feel you are valuable,” she said. “The challenges that women have are legitimate (and) everyone needs to be involved in solving (them). There is no reason why women should be penalized for having children. The only way to do that is to not be apologetic about it and stand in your strength.”



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Sarah Woods-Killam an Operations Specialist on 23andMe&#8217;s Customer Care, but she&#8217;s also an instrumental member of several of our Employee Resources Groups including &#8220;23andShe,&#8221; the group that supports women employees.

Sarah Woods-Killam

Two Women Tech Pioneers Look Back

Being Black in Tech



By Elo Ratliff,* MPH



To honor Black History Month, we decided not to look backward this year but instead to look inward at 23andMe, asking Black professionals here for their perspective on working in biotechnology where representation is still sorely lacking.



Being Black in tech you often find yourself being the only, or one of a very few, Black people in the room. Getting comfortable with that is important, and for the Black and African American community, history has shown us it’s that resiliency which is the antidote to remedy this lack of representation.&nbsp;



<h2 class="wp-block-heading" id="h-community">Community</h2>



That resiliency can help change the narrative in spaces where we do not typically see ourselves. In talking to my fellow members of the Black@23andMe Employee Resource Group (ERG), an affinity group aimed at supporting 23andMe employees who identify as Black, it takes more than just resiliency; it also takes community and support to sustain meaningful change.&nbsp;



For young Black professionals exploring their career paths, there are very limited outlets to expose them to job opportunities in technology, and many think that even if they do have some type of scientific or engineering background, they cannot work in tech. 



<h2 class="wp-block-heading">Pathfinding</h2>



For 23andMe Research Associate Shaeloren Deering, who came to 23andMe after attending Spelman College and Morehouse School of Medicine in Atlanta, simply finding the path to a career in tech is harder for those in the Black community.&nbsp;



“I wish there were more avenues to expose future Black professionals to the various career opportunities in tech,” said Shaeloren, who supports recruitment efforts for 23andMe’s Therapeutics team.&nbsp;&nbsp;



<h2 class="wp-block-heading">Support</h2>



But the challenges for Black tech workers don’t stop after you finally land a job. From building a network of support, to feeling overwhelmed by constantly being the minority, to lack of representation in leadership roles, it is challenging. 



There is immense pressure to always show up when you are one of the only minorities in the room, and pressure to suppress your authentic self to feel more accepted and validated in your thoughts.&nbsp;



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="360" height="260" src="http://35.88.189.111/wp-content/uploads/2023/02/Black@logo.png" alt="" class="wp-image-31187" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/02/Black@logo.png 360w, https://blogcms.23andme.com/wp-content/uploads/2023/02/Black@logo-300x217.png 300w" sizes="auto, (max-width: 360px) 100vw, 360px" /></figure>



There are many efforts to support underrepresented groups at 23andMe, and our ERGs are a part of that. 23andMe has also embraced Diversity, Equity, and Inclusion (DEI), which is the idea that the workplace needs to ensure that no matter what community an individual belongs to, they always feel they are being treated fairly and are not being discriminated against due to any parts of their identity. Most often, a DEI strategy helps disadvantaged groups feel a sense of belonging in the workplace.&nbsp;



<h2 class="wp-block-heading">Being Your Authentic Self</h2>



23andMe has done a lot of work with DEI, but despite these efforts, for many of us in the Black community it’s hard to shake the lifelong experience of “being different.” 



That, in turn, has altered our perceptions of how to be our “authentic selves” in the workplace. Lameisha Dubose, a Senior Sarbanes-Oxley Act Compliance Analyst, said it’s important to have a community and support in the workplace where you feel comfortable to be your “true self.” She calls this:



“Standing in my truth and finding my tribe.”



Lameisha echoed the sentiments of many others who are part of Black@23andMe. Each indicated in their own way how much they rely on their own “tribe.” That might mean simply finding support through an employee resource group; it can also mean leaning on allies, or trusted friends at work with whom they feel safe, valued, and a sense of belonging.&nbsp;



<h2 class="wp-block-heading">Purpose</h2>



What helps sustain us all is our “WHY.” Why are we here? We understand that while being a minority in these spaces can be challenging, we are also paving the way for future generations of young Black professionals to come into this space and hopefully be free, or limited in the disparities we are experiencing. But we are also professionals motivated by the innovative world of technology and the possibilities it brings.



Liz Babalola, a Senior Program Manager with 23andMe’s Research team and expert in public health and quantitative research, draws her motivation from the power of technology to transform.



“I am excited about AI driven analytics and machine learning,” said Liz.



Liz’s excitement to leverage new technology to drive change, particularly to help people live healthier lives, motivates all of us.



“For healthcare, I am excited to see all the new developments that can help those who may have been helpless before,” said April Ward, a Pharmacy Office Administrator.



At our core, we all love working in biotechnology because of what is possible &#8211; whether it’s finding new insights into disease, treating those conditions, or delivering important health information people can use to lead healthier lives.&nbsp;



The work we do is fun, especially when we get to do these things at a company that continuously strives to build a culture where every employee feels like they are just as important as the person next to them. Luckily for us, 23andMe is that company and has worked hard over the years to ensure DEI is a top priority. We are still learning (every company is), but the openness to learn and the support from the top down to make sure we are working towards “getting it right” is the most important step to yield change, and we are doing that.



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



*Elo Ratliff, MPH, is a Senior Project Manager for Genomic Health at 23andMe and Co-Lead of the Black@23andMe ERG.

A photo of five of the young women who participated in 23andMe's Being Black in Tech discussion

Eloycsia Ratliff

Being Black in Tech

February is a time for celebrating Black history. While we&#8217;re doing that here at 23andMe, we&#8217;re also reflecting on our efforts to address the disparities in biomedical and genetic research for people of African ancestry.



We want to share some of what we&#8217;ve been doing over the last year or so — around sickle cell disease and for a rare condition called sarcoidosis, both of which impact the Black community at much higher rates than other populations. But first, we want to give you some context and history.



Representation is important because, without it, the benefits from research fail to help all people, further compounding health disparities.



In addition to it being the right thing to do, improving representation also makes for good science. For example, research shows that <a href="https://www.nature.com/articles/s41586-019-1310-4">genetic studies that include diverse, multi-ethnic participants</a> have a higher chance of discovering significant genetic variants associated with diseases. Researchers would have missed those associations if the studies had only focused on one homogenous group.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="717" src="http://35.88.189.111/wp-content/uploads/2022/09/GettyImages-1251922051-1024x717.jpg" alt="" class="wp-image-30161" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-1024x717.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-300x210.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-768x538.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-880x616.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2022/09/GettyImages-1251922051-1180x826.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h6 class="wp-block-heading" id="h-representation-in-23andme-research">Representation in 23andMe Research</h6>



So, what is 23andMe doing to address these research disparities?



23andMe&#8217;s vice president for Research, Joyce Tung addressed that question two years ago in <a href="https://www.statnews.com/2020/06/10/23andme-ancestry-racial-inequity-genetics/">an opinion piece</a>, saying:



&#8220;There is no silver bullet to solve this problem, and it will require prioritizing multiple efforts now and into the future to ensure that we help everyone benefit from the human genome.&#8221;&nbsp;



We have made it a priority and done a lot, but we have so much more work.



Our first significant effort to address research disparities goes back to 2011 when we launched our <a href="https://www.23andme.com/roots/">Roots into the Future</a>. For this project, we recruited 10,000 African Americans to participate in research and help improve the kind of research we could do within the Black community.&nbsp;



Since then, we&#8217;ve had a steady cadence of projects, the <a href="https://www.23andme.com/africa-project/">African Genetics Project</a>, the <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/">African American Sequencing Project</a>, and the <a href="https://blog.23andme.com/23andme-research/global-genetics-project/">Global Genetics Project</a>, to name a few. And over the decade, we have built a research cohort that now is among the largest, if not the largest, cohort of African Americans (more than 500,000 people) with both genotypic and phenotypic information and who have consented to participate in research. Moreover, this large group of people with African ancestry who have consented to participate in 23andMe research offers our scientists the chance to study conditions relevant to the Black community.



Over the last year, we&#8217;ve undertaken several additional projects to improve the diversity of our research, doing research relevant to people within the Black Community, and enhancing the types of results we can return to customers with African ancestry.



<h6 class="wp-block-heading">Sickle Cell Anemia &amp; Sickle Cell Trait</h6>



Many of the projects we&#8217;ve been doing over the last year, and continue to be working on now, were only possible with all the effort we&#8217;ve made over the last decade to improve the diversity of our research participants. But, more importantly, customers of African descent who have consented to participate in 23andMe research have allowed us to study conditions important for the Black community.&nbsp;



One of those areas of study is sickle cell anemia, an inherited red blood cell disease caused by the HbS variant in the HBB gene. People who carry just one copy of the HbS variant in the HBB gene have what&#8217;s called sickle cell trait. These carriers will not develop sickle cell anemia, because that requires having two copies of HbS. However, their children could be at risk of inheriting sickle cell anemia if both parents have sickle cell trait. Sickle cell anemia got its name because, in people with the condition, red blood cells become &#8220;sickled&#8221; or crescent-shaped in certain circumstances. Sickle cell anemia affects people around the world. It is most common in people of African descent, but it also impacts people of Middle Eastern and South Asian descent, and people from the Caribbean, the Mediterranean, and parts of Central and South America.&nbsp;



We&#8217;ve been focused on research, new product improvements, and efforts to raise awareness within the Black community about what it means to be a carrier of sickle cell anemia. We recently updated the 23andMe <a href="https://blog.23andme.com/articles/23andme-updates-carrier-status-report-on-sickle-cell-anemia">Sickle Cell Anemia Carrier Status report,</a>* which helps identify carriers who may not otherwise have known their status, as well as provide information about sickle cell anemia and what this report may mean for someone&#8217;s own health and the health of their children.



This comes on the heels of a collaboration with the non-profit <a href="https://blog.23andme.com/articles/sickle-cell-awareness">Breaking the SSickle Cell Cycle Foundation</a> to increase access to sickle cell trait information, promote sickle cell disease awareness, and offer resources for individuals with sickle cell trait and sickle cell disease. About 1 in 13 African Americans and ~300 million people worldwide are carriers for sickle cell anemia, but awareness of sickle cell anemia and how it&#8217;s inherited is often limited. We&#8217;re hoping to change that.



In addition, 23andMe researchers have also undertaken an important research collaboration with scientists at the <a href="https://www.nih.gov/">National Institutes of Health</a> (NIH), and <a href="https://www.hopkinsmedicine.org/som/">Johns Hopkins University School of Medicine</a>. The study is now the largest and most diverse <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">genetic study of sickle cell trait</a> ever done. There will be more to come with this work in the coming months.



<h6 class="wp-block-heading">Representation in Sarcoidosis Research</h6>



In 2022, we also launched a study into the genetic underpinning of sarcoidosis, a rare condition that disproportionately impacts people of African descent. African Americans develop the condition at <a href="https://pubmed.ncbi.nlm.nih.gov/27509154/">twice the rate</a> of those of European ancestry.



<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="844" height="754" src="http://35.88.189.111/wp-content/uploads/2022/11/sarcoidosis-logo.jpg" alt="" class="wp-image-30870" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/sarcoidosis-logo.jpg 844w, https://blogcms.23andme.com/wp-content/uploads/2022/11/sarcoidosis-logo-300x268.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/11/sarcoidosis-logo-768x686.jpg 768w" sizes="auto, (max-width: 844px) 100vw, 844px" /></figure>



Sarcoidosis is an inflammatory disease that results in the clumping of inflammatory cells in different organs. While it mainly affects the lungs, it can affect any organ in the body. Symptoms include fatigue, swollen lymph nodes, or painful swelling of the joints. Because it often affects the lungs, sarcoidosis symptoms may also include shortness of breath, wheezing, a persistent cough, or chest pain. When it involves the heart, the condition may result in irregular heartbeat, accelerated heartbeat, or swelling of the heart, known as edema. It can also affect the eyes resulting in blurred vision.



Currently, there is no cure and few approved treatments.



23andMe wants to change that, yet sarcoidosis is rare, making it particularly challenging to study. However, this is where 23andMe&#8217;s research model and our efforts to recruit within the Black community have proven uniquely suited. In the months since launching the study, we&#8217;ve been able to recruit individuals from across the United States.This has allowed many individuals who might not otherwise be able to participate in research to participate from home.&nbsp;



Just as with most other rare diseases, there is a strong genetic component to sarcoidosis, but many genetic variants associated with the condition have not yet been identified. Nevertheless, we&#8217;re well on our way to meeting our goal of enrolling 2,000 people with sarcoidosis to learn more about the disease&#8217;s genetics.



This research aims to improve the lives of people living with sarcoidosis through a potential treatment discovery.



<h6 class="wp-block-heading">What&#8217;s Next?</h6>



As 23andMe expands representation within our research cohort, we strive to better reflect the rich diversity of the U.S. and world. With continued participation, we hope to continue to share scientific and health insights and conduct research on diseases that have high rates in the Black community to equitably improve health outcomes.



<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 for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. 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 or anything about 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. The Sickle Cell Anemia carrier status report is indicated for the detection of the HbS variant in the HBB gene. The report can tell you if you have two copies of the tested variant, and if you are at risk of developing symptoms of sickle cell anemia, but does not describe your overall risk of developing symptoms. This test is most relevant for people of African descent. It is also relevant for people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.

Improving Research on Conditions Relevant to People of African Ancestry

This week, 23andMe updated its Carrier Status report on sickle cell anemia, an inherited red blood cell disease caused by the HbS variant in the HBB gene.



With this update, 23andMe&#8217;s Sickle Cell Anemia Carrier Status report* can now tell customers if they have two copies of the HbS variant, including what that may mean for their own health and the health of their children. Specifically, the report will inform these customers that they are at risk of developing symptoms of sickle cell anemia, and that they will pass one copy of the HbS variant on to each of their children.



&#8220;We are excited to release this updated report, which allows us to provide meaningful genetic information to a number of our customers,&#8221; said 23andMe Product Scientist Ruth Tennen. &#8220;More broadly, we hope our report can help raise awareness about sickle cell anemia, identify carriers who may otherwise not have known their status, and provide important educational information about sickle cell anemia and its health impacts.&#8221;



As part of this report update, 23andMe consulted with experts from Johns Hopkins University School of Medicine, Breaking the SSickle Cell Cycle Foundation, Morehouse School of Medicine, and the Sickle Cell Foundation of Georgia. These experts noted that the update of 23andMe’s Carrier Status report could help increase awareness about sickle cell trait and sickle cell anemia.



&#8220;23andMe is making genetic testing more accessible to anyone wanting to find out more information about their carrier status,&#8221; said Dr. Jason Payne, pediatric hematologist and sickle cell doctor at Morehouse School of Medicine.



<h6 class="wp-block-heading" id="h-what-is-sickle-cell-anemia">What is sickle cell anemia?</h6>



<a href="https://medlineplus.gov/genetics/condition/sickle-cell-disease/">Sickle cell anemia</a> is a genetic condition caused by a specific genetic variant called HbS in a gene called HBB. The <a href="https://medlineplus.gov/genetics/gene/hbb/">HBB gene</a> contains instructions for making part of the hemoglobin protein, which is found in red blood cells and transports oxygen through the body. Inheritance of two copies of the HbS variant can lead to changes in the structure of hemoglobin, in certain situations. This can cause the hemoglobin to stick together and form long, rigid molecules that distort red blood cells into a sickle (crescent) shape. These sickled cells get destroyed prematurely, leading to anemia and symptoms such as fatigue. These cells can also get stuck in small blood vessels, which can lead to pain crises, frequent infections, and complications including kidney damage, acute chest syndrome, and stroke.<a href="https://www.ncbi.nlm.nih.gov/pubmed/20301551">1</a> 



<h6 class="wp-block-heading">Who is impacted by sickle cell anemia?</h6>



Sickle cell anemia affects people around the world. It is most common in people of African descent, but it also impacts people of Middle Eastern and South Asian descent, and people from the Caribbean, the Mediterranean, and parts of Central and South America. The HbS variant that causes sickle cell anemia is most common among people with ancestry from places where malaria is endemic, as having one copy of the HbS variant (also known as having sickle cell trait) provides significant protection against severe malaria. <a href="https://www.cdc.gov/ncbddd/sicklecell/data.html">2</a> (See sidebar &#8220;History of the HbS variant.&#8221;)



23andMe&#8217;s updated Sickle Cell Anemia report can now inform customers with two copies of the HbS variant that they are at risk of developing symptoms of sickle cell anemia. These customers will also receive information about how their result may be relevant for their children and for other relatives.



<div style="float: right; text-align: justified; width: 400px; background-color: #eee; padding: 15px; margin-left: 10px;">History of the HbS variant

In 2018, scientists published a genetic study analyzing the DNA of nearly 3,000 people to trace the genetic history of sickle cell anemia. They found that the HbS variant arose once, in sub-Saharan Africa, about 7,000 years ago. As people migrated to other parts of the world, the HbS variant became more common in places where malaria-carrying mosquitoes were common, because it provided significant protection against severe malaria. Reference: Shriner D et al. (2018). &#8220;Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase.&#8221; Am J Hum Genet. 102(4):547-556. [https://pubmed.ncbi.nlm.nih.gov/29526279/] </div>



<h6 class="wp-block-heading">How sickle cell anemia is inherited</h6>



In order to have sickle cell anemia, a person must inherit two copies of the HbS variant — one from each biological parent. People with just one copy of the HbS variant are called carriers; they&#8217;re also said to have <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html">sickle cell trait</a>. They’re not expected to have sickle cell anemia themselves, and they typically do not experience any health complications. But they could pass their variant on to their future children. If their partner has the HbS variant or another variant in the HBB gene, there&#8217;s a 25 percent chance that each child may have sickle cell anemia or a related blood disorder. (See sidebar &#8220;Other Types of Sickle Cell Disease.&#8221;)



<h6 class="wp-block-heading">Why it&#8217;s important to learn about sickle cell anemia</h6>



About 1 in 13 African Americans and ~300 million people worldwide are carriers for sickle cell anemia. <a href="https://www.cdc.gov/ncbddd/sicklecell/data.html">2</a>, <a href="https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease">3</a> But individual and community awareness of sickle cell anemia and how it&#8217;s inherited is often limited.&nbsp;



For example, although all 50 U.S. states include newborn screenings for sickle cell trait and sickle cell disease, many people with sickle cell trait do not know their status, in part because it&#8217;s up to individual state health departments to <a href="https://blog.23andme.com/articles/sickle-cell-awareness">follow up</a> with those families, leading to variability in who receives their results, how they are notified, and how much follow-up education and counseling is provided. <a href="https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease">4</a> <a href="https://pubmed.ncbi.nlm.nih.gov/18200513/">5,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/33072956/">6,</a><a href="https://pubmed.ncbi.nlm.nih.gov/22261754/">7,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/29178654/">8,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/22903793/">9,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/22903793/">10</a> There are also common misunderstandings about how sickle cell anemia is inherited, the distinction between sickle cell trait and sickle cell anemia, and how common it is to be a carrier. <a href="https://pubmed.ncbi.nlm.nih.gov/16749645/">11,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/19998646/">12,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/17505208/">13,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/21748660/">14</a>



<div style="float: right; text-align: justified; width: 400px; background-color: #eee; padding: 15px; margin-left: 10px;">Other types of sickle cell disease

In addition to sickle cell anemia, there are other types of sickle cell disease caused by variants in the HBB gene. Instead of having two copies of the HbS variant like people with sickle cell anemia, people with other types of sickle cell disease have one copy of the HbS variant and one copy of another variant in the HBB gene. Examples of other types of sickle cell disease include hemoglobin SC disease and sickle beta thalassemia disease.
 </div>



In addition, sickle cell anemia is often thought to be a condition that primarily impacts people with African ancestry. But the HbS variant is found around the world, including in people with ancestry from the Middle East, South Asia, the Mediterranean region of Europe, and parts of Central and South America.<a href="https://www.ncbi.nlm.nih.gov/pubmed/20301551">1,</a><a href="https://www.ncbi.nlm.nih.gov/pubmed/23103089">15</a> For this reason, the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) recently updated their carrier screening guidelines to recommend that people of all ethnicities who are considering having children should be offered carrier screening for hemoglobinopathies such as sickle cell anemia.<a href="https://pubmed.ncbi.nlm.nih.gov/34285390/">16,</a> <a href="https://www.ncbi.nlm.nih.gov/pubmed/23103089">17</a> Previously, most guidelines only recommended this type of screening for people of certain ancestries.



<h6 class="wp-block-heading">Actionable health information</h6>



Knowing if you&#8217;re a carrier for sickle cell anemia — or for another type of sickle cell disease caused by variants in the HBB gene — can be important in family planning. In addition to providing information that may be important for reproductive decision-making, carrier testing can help parents to plan for the birth of a child with the condition, and can prompt cascade testing of family members who may also have the same variant.



People with one copy of the HbS variant may also have another variant in the HBB gene, so it&#8217;s important that they talk to a healthcare professional about additional testing. In addition, in rare cases carriers for sickle cell anemia may experience some health impacts. You can learn more about sickle cell trait from the <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html">CDC</a> and the <a href="https://www.hematology.org/education/patients/anemia/sickle-cell-trait">American Society of Hematology</a>.



In addition to the Sickle Cell Anemia Carrier Status report — which can help people learn whether they are a carrier for sickle cell anemia and explore information about the health risks associated with the condition — 23andMe is working on other projects to raise awareness and improve our understanding of sickle cell anemia and sickle cell trait.&nbsp;For example, we have worked with the Breaking the SSickle Cell Cycle Foundation on an <a href="https://blog.23andme.com/articles/sickle-cell-awareness">awareness campaign</a> to increase access to sickle cell trait information, promote sickle cell disease awareness, and offer resources for individuals with sickle cell trait and sickle cell disease.



Our Research team is also working with collaborators at Johns Hopkins University School of Medicine and the National Human Genome Research Institute to <a href="https://blog.23andme.com/articles/new-research-on-sickle-cell-trait">investigate</a> potential health risks associated with having sickle cell trait.



<h6 class="wp-block-heading">Want to learn more?</h6>



The updated Sickle Cell Anemia Carrier Status report is available to 23andMe Health + Ancestry Service customers. Customers with two copies of the HbS variant who were genotyped after November 2013 will now receive information about their risk of developing symptoms of sickle cell anemia. Customers on all genotyping platforms can learn whether they are carriers for the HbS variant.



Acknowledgements: We are incredibly grateful to the following individuals for their valuable input on the updated report: Rakhi P. Naik, MD, MHS, Johns Hopkins University School of Medicine; Dr. Lametra Scott, Breaking the SSickle Cell Cycle Foundation; Dr. Herman Taylor, Dr. Tennille Leak-Johnson, and Dr. Jason Payne from the Morehouse School of Medicine; and Jacquelyn George, MPH, Jeanette Nu’Man, MEd, and Kadeem Harrison from the Sickle Cell Foundation of Georgia. We also thank the 23andMe employees who worked to make this update possible. This includes members of the Product R&amp;D, Medical Affairs, Research, Regulatory, Quality Assurance, Engineering, Legal, Customer Care, Product, Marketing, and Communications teams who contributed to the development and release of the report, as well as the members of 23andMe&#8217;s Sickle Cell Carrier Status Awareness Program core team.



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*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. 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 or anything about 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. The Sickle Cell Anemia carrier status report is indicated for the detection of the HbS variant in the HBB gene. The report can tell you if you have two copies of the tested variant, and if you are at risk of developing symptoms of sickle cell anemia, but does not describe your overall risk of developing symptoms. This test is most relevant for people of African descent. It is also relevant for people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.



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<h6 class="wp-block-heading">References</h6>



[1] Bender MA et al. (2003). &#8220;Sickle Cell Disease.&#8221; [Accessed Oct 11, 2022]. [<a href="https://www.ncbi.nlm.nih.gov/pubmed/20301551">https://www.ncbi.nlm.nih.gov/pubmed/20301551</a>]&nbsp;



[2] Centers for Disease Control and Prevention. &#8220;Data &amp; Statistics on Sickle Cell Disease.&#8221; Retrieved Sep 16, 2022, from https://www.cdc.gov/ncbddd/sicklecell/data.html [<a href="https://www.cdc.gov/ncbddd/sicklecell/data.html">https://www.cdc.gov/ncbddd/sicklecell/data.html</a>]&nbsp;



[3] Cleveland Clinic. &#8220;Sickle Cell Disease.&#8221; Retrieved Jan 6, 2023, from https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease [<a href="https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease">https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease</a>]&nbsp;



[4] Harrison SE et al. (2017). &#8220;Knowledge and Awareness of Sickle Cell Trait Among Young African American Adults.&#8221; West J Nurs Res. 39(9):1222-1239. [<a href="https://pubmed.ncbi.nlm.nih.gov/27550467/">https://pubmed.ncbi.nlm.nih.gov/27550467/</a>]



[5] Kavanagh PL et al. (2008). &#8220;Communication of positive newborn screening results for sickle cell disease and sickle cell trait: variation across states.&#8221; Am J Med Genet C Semin Med Genet. 148C(1):15-22. [<a href="https://pubmed.ncbi.nlm.nih.gov/18200513/">https://pubmed.ncbi.nlm.nih.gov/18200513/</a>]



[6] El-Haj N et al. (2018). &#8220;Newborn Screening for SCD in the USA and Canada.&#8221; Int J Neonatal Screen. 4(4):36. [<a href="https://pubmed.ncbi.nlm.nih.gov/33072956/">https://pubmed.ncbi.nlm.nih.gov/33072956/</a>]



[7] La Pean A et al. (2012). &#8220;A qualitative secondary evaluation of statewide follow-up interviews for abnormal newborn screening results for cystic fibrosis and sickle cell hemoglobinopathy.&#8221; Genet Med. 14(2):207-14. [<a href="https://pubmed.ncbi.nlm.nih.gov/22261754/">https://pubmed.ncbi.nlm.nih.gov/22261754/</a>]



[8] Creary S et al. (2017). &#8220;Sickle cell trait knowledge and health literacy in caregivers who receive in-person sickle cell trait education.&#8221; Mol Genet Genomic Med. 5(6):692-699. [<a href="https://pubmed.ncbi.nlm.nih.gov/29178654/">https://pubmed.ncbi.nlm.nih.gov/29178654/</a>]



[9] Moseley KL et al. (2013). &#8220;Who counsels parents of newborns who are carriers of sickle cell anemia or cystic fibrosis?&#8221; J Genet Couns. 22(2):218-25. [<a href="https://pubmed.ncbi.nlm.nih.gov/22903793/">https://pubmed.ncbi.nlm.nih.gov/22903793/</a>]



[10] &#8220;The current state of sickle cell trait: implications for reproductive and genetic counseling.&#8221; Hematology Am Soc Hematol Educ Program. 2018(1):474-481. [<a href="https://pubmed.ncbi.nlm.nih.gov/30504348/">https://pubmed.ncbi.nlm.nih.gov/30504348/</a>]



[11] Treadwell MJ et al. (2006). &#8220;Using qualitative and quantitative strategies to evaluate knowledge and perceptions about sickle cell disease and sickle cell trait.&#8221; J Natl Med Assoc. 98(5):704-10. [<a href="https://pubmed.ncbi.nlm.nih.gov/16749645/">https://pubmed.ncbi.nlm.nih.gov/16749645/</a>]



[12] Acharya K et al. (2009). &#8220;A pilot study to explore knowledge, attitudes, and beliefs about sickle cell trait and disease.&#8221; J Natl Med Assoc. 101(11):1163-72. [<a href="https://pubmed.ncbi.nlm.nih.gov/19998646/">https://pubmed.ncbi.nlm.nih.gov/19998646/</a>]



[13] Gustafson SL et al. (2007). &#8220;Health beliefs among African American women regarding genetic testing and counseling for sickle cell disease.&#8221; Genet Med. 9(5):303-10. [<a href="https://pubmed.ncbi.nlm.nih.gov/17505208/">https://pubmed.ncbi.nlm.nih.gov/17505208/</a>]



[14] Long KA et al. (2011). &#8220;Attitudes and beliefs of African-Americans toward genetics, genetic testing, and sickle cell disease education and awareness.&#8221; J Genet Couns. 20(6):572-92. [<a href="https://pubmed.ncbi.nlm.nih.gov/21748660/">https://pubmed.ncbi.nlm.nih.gov/21748660/</a>]



[15] Piel FB et al. (2013). &#8220;Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates.&#8221; Lancet. 381(9861):142-51. [<a href="https://www.ncbi.nlm.nih.gov/pubmed/23103089">https://www.ncbi.nlm.nih.gov/pubmed/23103089</a>]&nbsp;



[16] Gregg AR et al. (2021). &#8220;Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).&#8221; Genet Med. 23(10):81793-1806. [<a href="https://pubmed.ncbi.nlm.nih.gov/34285390/">https://pubmed.ncbi.nlm.nih.gov/34285390/</a>]&nbsp;&nbsp;



[17] American College of Obstetricians and Gynecologists. (2022). &#8220;Practice Advisory: Hemoglobinopathies in Pregnancy.&#8221; Retrieved Oct 11, 2022, from https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy [<a href="https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy">https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy</a>]&nbsp;

23andMe Updates Carrier Status Report on Sickle Cell Anemia

This summer brought special visitors to 23andMe: 10 high school students from<a href="https://streetcode.org/" target="_blank" rel="noreferrer noopener"> Streetcode Academy</a>, a Bay Area nonprofit committed to empowering communities of color with access to technology.



<figure class="wp-block-image alignright size-full"><img loading="lazy" decoding="async" width="746" height="992" src="http://35.88.189.111/wp-content/uploads/2023/01/Streetcode.jpg" alt="" class="wp-image-31062" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/01/Streetcode.jpg 746w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Streetcode-226x300.jpg 226w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Streetcode-662x880.jpg 662w" sizes="auto, (max-width: 746px) 100vw, 746px" /><figcaption class="wp-element-caption">Our Exposureship participants pose for a group selfie.</figcaption></figure>



The students spent one week exploring life at 23andMe as part of a newly developed Exposureship program.&nbsp;



They attended panels and workshops hosted by 23andMe and StreetCode with subjects ranging from career development to diversity, participated in team meetings, scheduled one-on-one discussions with employees, and capped off their experience with presentations and a celebratory lunch.



&#8220;We wanted to create a one-of-a-kind experience that would build connections in both directions &#8212; giving students a window into life at a tech company, and giving 23andMe employees the chance to connect with the next generation of innovators in our community,” said<a href="https://education.23andme.com/community/sarah-laskey/" target="_blank" rel="noreferrer noopener"> Sarah Laskey</a>, Ph.D., a Senior Scientist at 23andMe who was actively engaged in creating the program.



<h6 class="wp-block-heading" id="h-one-student-s-experience">One student’s experience</h6>



For Ziyan Batada, a senior at Mission San Jose High School in Fremont, California, the program presented a chance to accelerate learning and experience the “range of professions and ventures in [the field of] genetics.”



“I was very excited because 23andMe is my dream company to work at,” Ziyan said. “I am interested in the workings of life, both the psychological and biological aspects.”



Ziyan kept busy during his week at 23andMe. He had in-depth conversations with therapeutics and computational biology team members and attended four different meetings.



“I got to learn a lot about the culture at 23andMe and the value of higher education,” he reflected.



He also had the opportunity to speak to a 23andMe employee who is neurodivergent, just like him. “I am neurodivergent,” Ziyan explained, “and I got to learn from a high-achieving member of the neurodivergent community [at 23andMe] about his struggles and how he worked with them to get far in life.”



This type of authentic connection embodies the goal of the exposureship program, Sarah said. &#8220;They say, &#8216;if you can see it, you can be it.&#8217; That&#8217;s what the Exposureship was all about. Now, these students have seen what it means to work at 23andMe, and maybe they&#8217;ll be back in a few years to work with us!&#8221;

A photo of some of the young people who participated in Streetcode

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