By Alisa Lehman and Shirley Wu*



As 23andMe Product Scientists, our work focuses on making genetics and science valuable, understandable, and relatable to our customers. Learning about your DNA is incredibly personal, and we know that people have different experiences with our product.



This goes beyond the fun fact that everyone&#8217;s DNA is unique. Unfortunately, it&#8217;s also because our product doesn&#8217;t serve everyone equally.&nbsp;



<h6 class="wp-block-heading" id="h-the-problem">The problem</h6>



Creating inclusive products that serve and engage as many people as possible is both good for business and the right thing to do.



But even for a company like 23andMe, which was founded on the idea that everyone should be able to understand and benefit from the information in their DNA, tackling diversity, equity, and inclusion (DEI) in our product hasn&#8217;t been that simple.



23andMe has all the DEI considerations of any consumer-facing software product, but also has challenges related to how DEI intersects with biology, genetics, medicine, scientific research, data, identity, culture and geopolitics. Historical bias in research has led to disparities in the discoveries — and therefore products — that apply to people of non-European descent. Connecting genetics to identity can be controversial. The way that health information and disease risk are typically communicated does not reflect the experiences of those who are transgender and/or nonbinary.&nbsp;



For a long time, we relied on individual employees to identify and advocate for DEI. And things did happen — there were several projects that improved diversity within our database and we added new genetic reports that could broaden the value of our product to underserved groups. The problem was that these were isolated projects, and championing them required extra effort to gain organizational support and resourcing. Some issues, like gender inclusivity, were simply never prioritized despite repeated attempts.&nbsp;



That changed in 2020.



<h6 class="wp-block-heading">Empowering&nbsp;</h6>



In the aftermath of George Floyd&#8217;s murder, our CEO and co-founder Anne Wojcicki publicly <a href="https://www.23andme.com/black-lives-matter/">acknowledged our shortcomings and our need to do more</a>. Anne had also been listening to employees who’d long advocated for more inclusivity in our product and our company. She decided to make DEI a company priority.



Words matter, particularly public commitments from leadership. These statements empowered employees to drive change across the company, shifting the organizational mindset and starting what has become the most systematic revisioning that 23andMe has ever done of our approach to DEI. It triggered a broad reexamination not only of our workplace and hiring practices but also of the research we do and the products we create.



With that new focus and organizational support, we&#8217;ve made a number of improvements in the last two years. We created more options around birth sex and <a href="https://blog.23andme.com/23andme-and-you/more-inclusive-for-all-genders/">gender identity</a>, improved our <a href="https://blog.23andme.com/articles/accessibility-and-me">accessibility</a> features and software development process, and added <a href="https://blog.23andme.com/health-traits/dfnb1/">health updates</a> that increase the value of the product for customers of East Asian descent. We launched new regions in our flagship Ancestry Composition feature, including<a href="https://blog.23andme.com/ancestry-reports/indigenous-genetic-ancestry/"> Indigenous American ancestry</a>, ethnolinguistic groups in <a href="https://blog.23andme.com/ancestry-reports/african-ethnolinguistic-groups/">Africa</a> and greater detail in <a href="https://blog.23andme.com/ancestry-reports/ancestry-composition-update-china/">China</a>, incorporating input from customers and/or experts with these ancestries. We&#8217;ve used more <a href="https://blog.23andme.com/health-traits/new-23andme-eczema-report/">inclusive illustrations</a> and language to reflect the diverse experiences of our customers.



Just as importantly, we&#8217;ve established metrics and processes that help us understand where we are and bring concepts of inclusivity and equity into our day to day work.&nbsp;



<h6 class="wp-block-heading">Elements of change</h6>



We&#8217;ll admit: addressing the very real, complex DEI issues with our product can be incredibly daunting. There is often no blueprint, and it requires real mental and physical effort.&nbsp;



Four important elements have helped us get to where we are: action, persistence, intentionality, and grace.&nbsp;



<ul class="wp-block-list">
<li>Action: You may not have all the resources you want or a playbook for what to do, but you can always do something. Tackle some low-hanging fruit and build momentum through those successes. You will learn as you go. </li>
</ul>



<ul class="wp-block-list">
<li>Persistence: Making your product more equitable and inclusive isn&#8217;t going to be a one-time fix, but an ongoing journey, so commit to the long haul. Enthusiasm and support, especially from the top, will be difficult to sustain, so create infrastructure for measuring progress, and embed DEI into existing processes and tools to reduce burden. Sustaining the work efficiently — and independently of individuals — is the goal. </li>



<li>Intentionality: 23andMe is a business juggling multiple priorities, and we&#8217;ve made product decisions that don&#8217;t always align perfectly with DEI goals. There can be mixed feelings about this, but we are increasingly making those decisions with intentionality and awareness of the DEI impact. There is greater accountability, and we can be more thoughtful about how we follow through.&nbsp;</li>
</ul>



<ul class="wp-block-list">
<li>Grace: There is often a fear of getting things wrong. And the truth is that there is often no right answer. 23andMe tackles uncomfortable subjects head-on, often venturing into new territory. We do the best we can with the information we have, and we extend ourselves a fair amount of grace — permission to try, to mess up sometimes, to learn, and keep going.&nbsp;</li>
</ul>



We still have so much we need to do at 23andMe, but we&#8217;ve been heartened to see the growing number of companies making the same kind of commitment to making equitable and inclusive products. For us, DEI means we have the potential to connect with and help even more people access, understand, and benefit from the human genome.



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



*Alisa is a senior manager on 23andMe’s product science team. She holds a Ph.D. in biology from Stanford. Shirley is the director of 23andMe’s Product Science and Genetics Platform Analytics teams and holds a Ph.D. in biomedical informatics from Stanford.&nbsp;

23andMe Blog

23andMe Blog Team

Creating Inclusive Products and Features at 23andMe

A genome-wide association study of almost 3.4 million people with diverse ancestries has identified 3,823 genetic variants linked to alcohol and tobacco use.



Published in<a href="https://www.nature.com/articles/s41586-022-05477-4"> Nature</a>, the research was led by a team from the University of Minnesota, Minneapolis, and Pennsylvania State College of Medicine and collaborators from industry and other academic institutions.



The study incorporated the genetic data of almost 3.4 million people with African, American, East Asian, and European Ancestry. Participants were from 60 different cohorts across the globe, including consented research participants from 23andMe.



This is the first study of its kind to include such a diverse population. It updates <a href="https://www.nature.com/articles/s41588-018-0307-5">work </a>done by the same team in 2019 that primarily relied on data from people of European Ancestry.&nbsp;



<h6 class="wp-block-heading" id="h-genetic-architecture-of-substance-use">Genetic architecture of substance use</h6>



Smoking and drinking are leading causes of mortality worldwide and are risk factors for many chronic conditions and psychiatric disorders. Though both behaviors can be influenced by environment and culture, evidence suggests genetics plays a role, too.



The researchers identified 3,823 genetic variants from more than 2,000 genomic regions linked with smoking or drinking traits. More than 2,400 were associated with the likelihood of ever smoking regularly, 243 with the number of cigarettes smoked per day, and 849 with the number of alcoholic drinks consumed per week.



When they compared these genetic variants across the different ancestries, they found striking similarities, indicating that “the genetic architecture underlying substance use is not markedly different across ancestries.”&nbsp;



However, they also noted that polygenic risk scores (DNA-based tools that enhance the ability to predict the risk of certain diseases) developed from people of European Ancestry couldn’t accurately predict alcohol and tobacco use in people of other ancestries.



<h6 class="wp-block-heading" id="h-diversity-is-key">Diversity is key</h6>



Beyond furthering the understanding of substance use and related behaviors, this work also shows how diverse population samples can increase the scope and power of genetic research.



Working with an expanded database allowed the researchers to pinpoint more genetic variants that are strongly linked to alcohol and tobacco use. And by including population samples from a wide variety of ancestry groups, these gene variants were able to be found more quickly.



“Our results highlight that inclusion of individuals of diverse genetic ancestries allows for a better understanding of the genetic architecture of substance use by increasing power to detect variants associated with these behaviors and by improving the generalizability of our findings,” said <a href="https://experts.umn.edu/en/persons/gretchen-r-saunders">Gretchen Saunders</a>, a psychologist at the University of Minnesota, Minneapolis, and a co-author of the paper.&nbsp;



“As we continue to expand [upon this research], we hope to further include individuals who better represent overall global diversity which would allow for the creation of more equitable genetic risk scores, for example.”



You can read the full paper <a href="https://www.nature.com/articles/s41586-022-05477-4">here</a>.

Genetic Associations with Smoking and Drinking

This month, researchers from <a href="https://www.23andme.com/">23andMe</a>, 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> presented preliminary data from what 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.



<h6 class="wp-block-heading" id="h-link-to-pulmonary-emboli">Link to pulmonary emboli</h6>



The study included data from more than 3.7 million customers who consented to participate in research, including 18,000 with sickle cell trait.&nbsp;



The study found that having sickle cell trait — being a carrier for sickle cell anemia or having one copy of the HbS variant in the HBB gene — is associated with an increased risk for blood clots in the lungs, known as pulmonary emboli.



Someone who has sickle cell trait will not develop sickle cell anemia. However, their children could be at risk of inheriting sickle cell anemia if both parents have sickle cell trait.



While being a carrier does not put you at risk for sickle cell anemia and most individuals will not have any associated health complications, this study and others have shown that sickle cell trait is a risk factor for pulmonary emboli. This study revealed for the first time that this risk exists regardless of ancestry, which has implications for clinical guidelines for individuals who have sickle cell trait.



“We were able to validate the link for venous thromboembolism that smaller epidemiologic studies have shown in the past and identify that this link was predominantly for pulmonary emboli and not for deep vein thrombosis,” said <a href="https://www.hopkinsmedicine.org/profiles/details/rakhi-naik">Rakhi P. Naik</a>, MD, MHS, Clinical Director for the Division of Hematology at Johns Hopkins and a lead researcher on the study.&nbsp;



“These findings are particularly important because they suggest a unique mechanism of thrombosis in individuals with sickle cell trait,” Naik continued. “Clinicians should be aware of the increased risk of pulmonary embolism in sickle cell trait, especially in high-risk situations such as surgery.”



<h6 class="wp-block-heading" id="h-a-significant-study">A significant study</h6>



An abstract on the findings and more <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">detail on the study</a> was presented at <a href="https://www.hematology.org/">the American Society of Hematology</a>’s annual meeting.&nbsp;



“While the initial findings are interesting, the more significant aspect of this study is the size and diversity of the research cohort,” said <a href="https://www.genome.gov/staff/Vence-L-Bonham-Jr-JD">Vence Bonham</a>, JD, acting Deputy Director of the<a href="https://www.genome.gov/"> National Human Genome Research Institute</a> (NHGRI) of NIH, associate investigator in the NHGRI Intramural Research Program, and leader of the NHGRI Health Disparities Unit.&nbsp;



“This preliminary data represents just a first glimpse at the work from this collaboration,” said Bonham, adding that the study is significant because it is not just being conducted among individuals from one ethnic or ancestral background.



Study participants included nearly 200,000 individuals of African ancestry and ~550,000 people of Latine descent, in addition to ~3 million participants of European descent. &nbsp;Most previous studies have been performed solely in African ancestry cohorts, so this study is significant for including multiple population groups and for its sheer size.



The study&#8217;s associations are consistent across all studied ancestral groups, reinforcing that sickle cell trait and its associations are relevant for many carriers.&nbsp;



More than 100 million people worldwide have sickle cell trait, including one million to three million Americans. About eight-to-ten percent of African Americans are carriers, but sickle cell trait can also be found in people of any ethnicity. Sickle cell trait is more common in individuals with ancestors from Africa, Latin America, South Asia, the Mediterranean region of Europe, and Middle Eastern countries.



<h6 class="wp-block-heading" id="h-diversity-in-research">Diversity in research</h6>



For 23andMe, this is not only an opportunity to raise awareness about sickle cell, but also offers the potential to move the needle to increase the diversity of genomic studies.



“This study, the largest to date on sickle cell trait, demonstrates the contribution 23andMe can make to understudied areas of research,” said<a href="https://research.23andme.com/research/#drawer-manage"> Anjali Shastri</a>, PhD, a 23andMe Senior Program Manager for Research. “It underscores the importance of diversity in genomics research, and we believe studies like this should inform clinical care and policy in this space.”&nbsp;



<a href="https://www.linkedin.com/in/julie-granka-69156550">Julie Granka</a>, PhD, a 23andMe Principal Scientist and Statistical Geneticist who worked on the study with Statistical Geneticist <a href="https://research.23andme.com/research/#genomics-drawer">Keng-Han Lin</a>, PhD, believes the work shows the value of 23andMe’s research model. “Leveraging crowd-sourced data from our customers who have consented to participate in research has allowed us to quickly replicate prior findings, as well as make new discoveries uniquely powered by a large dataset,” said Granka.



This work would not have been possible without 23andMe customers with sickle cell trait who consented to participate in research. <a href="https://blog.23andme.com/articles/melinda-king">Melinda King</a>, Head of Diversity, Equity, and Inclusion at 23andMe, acknowledged their important contribution: “I am so grateful and impressed with our 23andMe customers&#8217; willingness to participate in this research. We know that many of them are from communities that suffered unethical treatment from past medical research projects. Despite that history, they trust us to do this important work and know that it is necessary for the greater good of their communities.”



<h6 class="wp-block-heading" id="h-raising-awareness">Raising awareness</h6>



Independent of this collaboration, 23andMe has undertaken other projects to raise awareness and improve our understanding of sickle cell.&nbsp;



Most recently we have worked with the <a href="https://www.btsscycle.org/">Breaking the SSickle Cell Cycle Foundation</a> on <a href="https://blog.23andme.com/health-traits/sickle-cell-awareness/">an 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.



Many people don’t fully understand what it means to have sickle cell trait. Bonham and Naik hope that this study and others will help raise awareness about sickle cell in general.



Access the abstract <a href="https://ash.confex.com/ash/2022/webprogram/Paper163883.html">here</a>.

New Research on Sickle Cell Trait

Not too long ago, 23andMe launched a <a href="https://www.23andme.com/sarcoidosis-representation/">new study of sarcoidosis</a>, specifically aimed at better understanding the underlying genetic and environmental factors that contribute to sarcoidosis in individuals with African ancestry.&nbsp;



Sarcoidosis (pronounced SAR-COY-DOE-SIS) is a rare inflammatory disease affects the Black community at double the rate of white individuals, and can affect any organ, but most often, it occurs in the lungs. A study published in 2015 indicated that African-Americans were <a href="https://dx.doi.org/10.1378%2Fchest.14-1120">twelve times more likely</a> to die from the condition than patients of other ethnicities.&nbsp;



Participants in our <a href="https://www.23andme.com/sarcoidosis-representation/">Representation in Sarcoidosis Research Study</a> have already begun sharing their own experiences with the disease. As people have consented to participate in our study, we are learning in real-time more about their earliest symptoms, the types of symptoms, and the treatments they’re using.



Our goal with this study is to gain new insight into the condition leading to potential new treatments or cures. That’s the hope as we work to recruit 2,000 individuals diagnosed with sarcoidosis with African ancestry.



<h6 class="wp-block-heading" id="h-new-data">New data</h6>



There is much we do not understand about sarcoidosis. It’s an insidious disease that can progress slowly without any obvious symptoms. It affects people of any age or ethnicity, but it’s usually diagnosed in adults between the ages of 30 and 40. It disproportionately affects people of African ancestry and is also more common in women.



<figure class="wp-block-image aligncenter size-medium"><img loading="lazy" decoding="async" width="300" height="234" src="http://35.88.189.111/wp-content/uploads/2022/11/Data-Screen-300x234.jpg" alt="" class="wp-image-30871" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/Data-Screen-300x234.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/11/Data-Screen.jpg 531w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



While we still have a long way to go in our efforts, we’re already learning more about the condition.&nbsp;



For example, among individuals participating in 23andMe’s study, we see that the most commonly reported symptoms were granulomas in the lungs or lymph nodes. Granulomas are tiny nodules where immune cells clump together at the site of an infection or inflammation. Almost 60 percent of those in the study reported granulomas on their lungs. About half said they had them on their lymph nodes. Other common symptoms of sarcoidosis are swollen lymph nodes, rashes, blurred vision, and joint pain or swelling.



23andMe’s early data shows a slightly higher prevalence among women participating in our study. It also shows a higher incidence among African Americans throughout our database. However, the latter may have more to do with our recruitment efforts.



<h6 class="wp-block-heading">Other symptoms</h6>



The data we have now is from both participants in the study and from customers who previously consented to participate in research. This preliminary data shows that lung scarring, also known as pulmonary fibrosis, is more prevalent among African Americans. The data we have so far also indicates that about a third (33 percent) of African Americans with sarcoidosis reported having lung scarring. This is compared to about 29 percent of all participants.&nbsp;&nbsp;



You can get sarcoidosis at any age. But the risk increases as you get older, especially after age 55. The average age of diagnosis among our study participants is 41, but four years younger among African Americans in the study.



Common symptoms for sarcoidosis are fatigue, pain, and swelling. When the condition affects the lungs, symptoms often include persistent coughs and shortness of breath. When it affects the heart, the symptoms often result in an irregular heartbeat or swelling of the heart, known as edema. There currently is no cure and few approved treatments.



We’re learning how our data parallels what we generally know about sarcoidosis&#8217;s earliest symptoms and progression. But we’re also interested in the potential of how this data might offer new insights into the condition. We’re encouraged by how those insights might push us closer to finding new treatments for the disease.



<h6 class="wp-block-heading">Rare disease research</h6>



This study is among a host of studies 23andMe has recently undertaken, looking specifically at rare diseases. Rare disease is defined as conditions that affect fewer than 200,000 people in the US. It is often difficult to find and recruit enough people with the condition, and this is especially the case among the underrepresented population.



<figure class="wp-block-image size-medium"><img loading="lazy" decoding="async" width="300" height="184" src="http://35.88.189.111/wp-content/uploads/2022/11/Visualize-GWAS-300x184.jpg" alt="" class="wp-image-30872" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/Visualize-GWAS-300x184.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/11/Visualize-GWAS.jpg 616w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



However 23andMe&#8217;s research model is uniquely suited to <a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/">studying rare diseases</a>. And in the months since launching the Representation in Sarcoidosis Research Study, we’re already seeing the power of our research model to quickly recruit individuals. This is in part because participation isn&#8217;t dependent on geography. People can participate in 23andMe research from home. 



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.&nbsp;



Learn more about 23andMe’s sarcoidosis study <a href="https://www.23andme.com/sarcoidosis-representation/">here</a>. Questions about the study? Contact us at sarcoidosis-representation@23andme.com.

A logo for the 23andMe sarcoidosis research

A Check-In on 23andMe’s Sarcoidosis Research Study

By Janie Shelton, PhD, MPH
Are you confused about polycystic ovary syndrome (PCOS)? You’re not alone. <a href="https://pcosawarenessmonth.org/about-pcos-awareness-month/">September is PCOS awareness month</a> and it’s a great time to learn more about this condition. Let’s dive in.
<h6>About PCOS<img loading="lazy" decoding="async" class="alignright wp-image-26788 size-medium" src="http://35.88.189.111/wp-content/uploads/2018/12/PCOS-Image-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/12/PCOS-Image-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/12/PCOS-Image-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/12/PCOS-Image-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/12/PCOS-Image-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/12/PCOS-Image-1180x787.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/12/PCOS-Image.jpg 1253w" sizes="auto, (max-width: 300px) 100vw, 300px" /></h6>
Many women live with PCOS for a very long time and don’t know it.<a id="f1" href="#a1">[1]</a> Occurring in an estimated <a href="https://www.cdc.gov/diabetes/basics/pcos.html#:~:text=PCOS%20is%20one%20of%20the,beyond%20the%20child%2Dbearing%20years.">6-12 percent of females of reproductive age</a>, it is common to only get the diagnosis after experiencing infertility or unexplained missed or absent periods.<a id="f2" href="#a2">[2]</a> Currently, there are no common proactive screenings to help identify this issue early on.&nbsp;
Symptoms of PCOS include irregular or absent periods, weight gain, excessive body or facial hair, acne, and male-pattern hair loss. People with PCOS are at an elevated risk for infertility and pregnancy related complications along with other conditions including type 2 diabetes, insulin resistance, fatty liver disease, and heart disease. Polycystic ovaries — cysts within the ovaries —are sometimes spotted through a transvaginal ultrasound, but not always. Because polycystic ovaries are observed in people without PCOS, this observation alone does not lead to a diagnosis.
While the general clinical features of PCOS include all of the above, specific diagnostic criteria are hard to nail down. Generally, healthcare providers are seeking evidence of two out of the three features to make the diagnosis:
<ul>
<li style="font-weight: 400;" aria-level="1">Irregular or missed periods</li>
<li style="font-weight: 400;" aria-level="1">Elevated androgen hormones (including testosterone)</li>
<li style="font-weight: 400;" aria-level="1">Polycystic ovaries</li>
</ul>
To further confuse things, the presence of the physical manifestations, in particular excess body hair, has substantial variation by ancestral group. In particular, Asian women with PCOS often do not present with excess facial hair,<a id="f3" href="#a3">[3]</a> potentially reducing suspicion of this condition during clinical exams.
<h6>What causes PCOS?</h6>
The exact cause of PCOS is unknown, however we know heritability may account for as much as 70% of the development of the disorder.<a id="f4" href="#a4">[4]</a> High risk groups include those with a first-degree biological relative (for example a mother or sister) with the condition. There is some evidence ancestries such as Mexican American<a id="f5" href="#a5">[5]</a> and Aboriginal Australians<a id="f6" href="#a6">[6]</a> have a higher risk compared to other populations, but due to a lack of proactive screening the true prevalence is unknown around the world. Finally, a common anti-seizure medication (valproate) has also been associated with inducing PCOS.<a id="f7" href="#a7">[7]</a>
<h6>How can I get tested?</h6>
If you suspect you may have PCOS or have a family history of PCOS, your OB/GYN can carry out an exam to detail your health history. They might carry out a transvaginal ultrasound, and order a series of blood tests, including hormone screening as described <a href="https://www.mayoclinic.org/diseases-conditions/pcos/diagnosis-treatment/drc-20353443">here</a> by the Mayo Clinic. In addition to the lab results, other features of PCOS as mentioned above are needed to confirm a diagnosis.
<h6>What can I do if I have it?</h6>
A healthy lifestyle can help mitigate some of the health risks associated with PCOS. For example, maintaining a healthy weight through diet and regular exercise will help reduce the risk of insulin resistance or type 2 diabetes. Hormonal birth control options may help manage symptoms and regulate menstrual cycles. For those who know they want to have children, proactively discussing fertility and family planning options with a healthcare provider is important.&nbsp;
<h6>The 23andMe+ Polycystic Ovary Syndrome Report (Powered by 23andMe Research)</h6>
Our report is powered by data from people who have consented to participate in 23andMe research and uses machine learning techniques to estimate an individual’s likelihood of developing PCOS.
This estimate is made using a statistical model that includes more than 1,300 genetic markers and information on an individual’s ethnicity and birth sex. In this<a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodologyAppendix_2021.pdf"> white paper</a>, you can learn more about the science and methodology behind our report.
<h6>Learn More</h6>
23andMe’s Polycystic Ovary Syndrome report (Powered by 23andMe Research) is available to all 23andMe+ members who report their birth sex as female. To view your report, go<a href="https://you.23andme.com/reports/prs.polycystic_ovary_syndrome/"> here</a>.
Not a 23andMe+ member? To become a 23andMe+ member, or to find out more go<a href="https://www.23andme.com/membership/"> here</a>.
<hr>
<h6 class="footnotes">References:</h6>
<footer class="footnotes"><code style="display: none;"> 
</code><code style="display: none;"> </code> 
<a id="f1" href="#a1">[1]</a> Gibson-Helm ME, Lucas IM, Boyle JA, Teede HJ. (2014). &#8220;<a href="https://pubmed.ncbi.nlm.nih.gov/24925927/">Women&#8217;s experiences of polycystic ovary syndrome diagnosis</a> &#8221; Fam Pract. 2014 Oct;31(5)</footer>
<footer class="footnotes"><code style="display: none;"></code> <a id="f2" href="#a2">[2]</a> Gibson-Helm M, Teede H, Dunaif A, Dokras A. (2017). &#8220;<a href="https://pubmed.ncbi.nlm.nih.gov/27906550/">Delayed Diagnosis and a Lack of Information Associated With Dissatisfaction in Women With Polycystic Ovary Syndrome</a>&#8221; J Clin Endocrinol Metab. 2017 Feb 1;102(2)</footer>
<footer class="footnotes"></footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f3" href="#a3">[3]</a> Gibson-Helm ME, Lucas IM, Boyle JA, Teede HJ.(2014). &#8221; <a href="https://pubmed.ncbi.nlm.nih.gov/24925927/">Women&#8217;s experiences of polycystic ovary syndrome diagnosis</a>” Fam Pract. 2014 Oct;31(5)</footer>
<footer class="footnotes"><code style="display: none;"> </code></footer>
<a id="f4" href="#a4">[4]</a> Mykhalchenko K, et al (2017) &#8220;<a href="https://pubmed.ncbi.nlm.nih.gov/28602111/#:~:text=PCOS%20is%20a%20complex%20genetic,the%20development%20of%20the%20disorder.">Genetics of polycystic ovary syndrome</a>&#8221; &nbsp;Expert Rev Mol Diagn. 2017 Jul;17(7)
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f5" href="#a5">[5]</a> Engmann L, et al. (2017). &#8220;<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420474/">Racial and Ethnic Differences in the Polycystic Ovary Syndrome (PCOS) Metabolic Phenotype</a>&#8221; Am J Obstet Gynecol. 2017 May;216(5)</footer>
<footer class="footnotes"><code style="display: none;"> </code><a id="f6" href="#a6">[6]</a> Boyle JA et al. (2015). &#8220;<a href="https://pubmed.ncbi.nlm.nih.gov/26387977/">Polycystic ovary syndrome and metabolic syndrome in Indigenous Australian women</a>&#8221; Intern Med J. 2015 Dec;45(12)&nbsp;</footer>
<footer class="footnotes"><a id="f7" href="#a7">[7]</a> Bilo L et al. (2008). &#8220;<a href="https://pubmed.ncbi.nlm.nih.gov/19012099/">Polycystic ovary syndrome in women using valproate: a review</a>&#8221; Gynecol Endocrinol. 2008 Oct;24(10)
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What is Polycystic Ovary Syndrome and How Do I Know if I Have It? 

September is Sickle Cell Awareness Month, so we wanted to share a bit about our efforts to bridge the knowledge gap about the condition through a collaboration with Dr. Lametra Scott and the non-profit<a href="https://www.btsscycle.org/"> Breaking the SSickle Cell Cycle</a> Foundation (BTSSCC).

Over the last few months, <a href="https://www.btsscycle.org/founder.html">Dr. Scott,</a> CEO, and co-founder of BTSSCC, has worked with 23andMe as part of a sickle cell awareness campaign 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 (SCD). Sickle cell disease is a group of inherited blood disorders. Similar to the sickle cell trait, sickle cell disease disproportionately affects, among other groups, people with African ancestry.
The sickle cell awareness campaign offers an opportunity for individuals to learn more about their ancestral heritage and access 65+&nbsp;

 <figure class="wp-block-image size-full is-style-default"><img loading="lazy" decoding="async" width="512" height="475" src="https://blogcms.23andme.com/wp-content/uploads/2022/09/Lametra-Scott.png" alt="" class="wp-image-30309" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/Lametra-Scott.png 512w, https://blogcms.23andme.com/wp-content/uploads/2022/09/Lametra-Scott-300x278.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
health reports and features, including additional reports&nbsp;on conditions that disproportionately affect people of African ancestry, such as APOL1-related chronic kidney disease and glucose-6-phosphate dehydrogenase deficiency.*

Many people don’t know that sickle cell disease is an inherited condition caused by variants in the HBB gene. People who carry one copy of the HbS variant in the HBB gene have sickle cell trait. People with sickle cell trait don&#8217;t typically experience any symptoms unless under extreme conditions. However, their children could be at risk of inheriting sickle cell disease if their partner also carries a variant in the HBB gene. In particular, if both parents have the HbS variant, the children are at risk of inheriting the form of sickle cell disease known as sickle cell anemia. 
23andMe, which offers a <a href="https://www.23andme.com/topics/carrier/sickle-cell-anemia/">Sickle Cell Anemia Carrier Status Report</a>*, is uniquely positioned to help individuals learn more about their carrier status through the report.&nbsp; In addition, the report offers opportunities to learn more about the potential risks of sickle cell anemia. 23andMe is collaborating with BTSSCC on a Sickle Cell Carrier Status Awareness Program that offers free 23andMe Health + Ancestry kits to participants and provides education and counseling services for those interested through BTSSCC. Program participants may consent to participate in 23andMe’s Research program, but this is not required for the program. In related work, the team is collaborating with researchers at the NHGRI and Johns Hopkins University to study sickle cell trait and potentially associated conditions.&nbsp;&nbsp;
Worldwide about 300 million people have sickle cell trait. About one in 13 Black or African American babies is born with sickle cell trait in the US alone, and about one in every 365 is born with sickle cell disease.&nbsp;
Although there are<a href="https://www.nature.com/articles/d41586-021-02138-w"> promising developments</a> in gene therapy to cure sickle cell disease and new treatment medications, the disease still plagues about 100,000 Americans. The condition is associated with increased stroke risk and often leads to debilitating pain and organ failure. Knowing whether you have sickle cell trait is important for anyone planning to have children.
This is personal for Dr. Scott, who learned she was a carrier only after becoming pregnant with her son Rickey. A pharmacist who studied biology at the University of Memphis and then received her doctor of pharmacy degree at the University of Tennessee Health Science Center, Dr. Scott said the challenge wasn’t just the lack of screening or information from doctors during her pregnancy, but the lack of training in general for people in the medical profession that prompted her to take action.
She founded BTSSCC in 2015 after Rickey’s birth. She’d learned she was a carrier about 15 weeks into the pregnancy. After her son’s birth, Dr. Scott was told Rickey was only a carrier. But that was wrong. It turned out Rickey had sickle cell anemia. The combination of the lack of information, along with the lack of training and inconsistent treatment, prompted Dr. Scott to create BTSSCC. The focus of the non-profit is to bridge the SCD&nbsp; knowledge gap and to encourage people at risk to get tested for sickle cell trait and have conversations with their families and healthcare providers.
Dr. Scott recently sat down with us and talked about her work and some common misunderstandings about sickle cell disease. Below is some of that conversation edited and condensed in places in the interest of brevity.

<h6>You didn’t learn that you were a carrier until you became pregnant. Do you think that’s a common experience?</h6>
Yes, very much so. It’s all rooted in the fact that many people don’t know their status. They don’t know whether they are carriers of the sickle cell trait until they have a child. That’s pretty much when they find out. Even though all 50 states now include sickle cell in the newborn screening panel.
That wasn’t always standard. New York was the first state to implement newborn screening for sickle cell disease in 1975; by 2006, universal newborn screening for sickle cell disease was in place across all 50 states.
The issue is that even when a baby tests positive for the trait, it’s up to the individual state health departments to follow up with those families. There isn’t always good follow through on that, and then often a child or their family forgets about (the significance of being a carrier), and the cycle can begin again when they have children.
Testing and screening often don’t happen until someone is pregnant. I found out only after I was 15 weeks pregnant, and I had my son in my mid-30s.
<h6>A lot of your work is around simply educating people about the condition. What are some of the questions you hear the most from people wanting to learn more?</h6>
We’re doing outreach on a lot of topics, including making sure people understand that sickle cell is relevant not just to African Americans but people of all ethnic groups, particularly groups with roots in geographies where malaria is endemic. So, that includes the Middle East, the Mediterranean, the Caribbean, Central, and South America, and South Asia.
The sickle cell trait was an evolutionary adaptation that helped people survive malaria, but it becomes detrimental when two people with the trait have a child, and that child develops sickle cell disease. Part of educating people is dispelling myths, because those myths filter into the healthcare system. A non-African American with sickle cell disease or caregiver to a child with symptoms might show up in an emergency room with symptoms, but because they are not African American, it’s assumed they wouldn’t have sickle cell disease and are often denied appropriate care.
We also get a lot of questions from people with sickle cell disease who need help navigating the system. There are not a lot of medical professionals who are knowledgeable about sickle cell disease or the sickle cell trait. So some of our most common discussions aren’t questions, but patients who’re frustrated that they’re not getting the care they need. This is because medical professionals may not understand sickle cell disease. We have people who go to the emergency room in excruciating pain who might wait 10 to 12 hours and aren’t triaged quickly. Or once they get in to see someone, instead of being given a narcotic or opioid to treat their pain, they’re labeled as a “drug seeker.”
<h6>Why is there this big gap in understanding?</h6>
Some of it is the lack of training. In the ten years of medical education, you might get 15 minutes focused on sickle cell unless you specialize in hematology.&nbsp; And then there’s the issue of money or lack of money associated with research funding sickle cell disease treatments.
But I think you can’t talk about any of that without addressing racial issues and healthcare disparities that impact the African American and minority communities.&nbsp;
<h6>You have personal experience with being a carrier and caring for someone with sickle cell disease. How difficult was it to find a clinician specializing in treating sickle cell?</h6>
Well, that’s a loaded question. It depends on where you live. Luckily for me, there is a center for excellence (a clinic specializing in treating sickle cell) nearby.&nbsp;
For me, it wasn’t hard to find care for our son, but for someone in a rural area, it can be very challenging. There are not a lot of specialists in those areas or providers who are knowledgeable about sickle cell.
(Editor’s note:&nbsp; There are about<a href="https://sicklecellcenters.org/member_centers"> 50 centers that treat sickle cell across the country</a>. About two dozen facilities treat adult sickle cell patients, about 20 that treat pediatric sickle cell patients, and just 16 that do whole-life care for sickle cell patients. For comparison there are 130 treatment centers for cystic fibrosis, a rare disease that mostly impacts people of European descent with about half as many people as sickle cell disease. )
<h6>What are some programs you and BTSSCC have supported to increase the number of healthcare professionals with expertise in sickle cell disease?</h6>
So in that regard, we’ve started working with pharmacists. We chose to work with them first because they provide healthcare to all patients, and there are retail pharmacies in every community. In addition, patients depend on pharmacists for medication to manage their disease state. They have the opportunity to develop relationships with those patients and be their advocates. If a patient is going to the pharmacy more frequently or experiencing more episodes, they may need adjustments to their medication, and the pharmacists can pick up the phone and speak with their doctor about the concerns and be their advocate.
<h6>There are some promising treatments for sickle cell disease, particularly new types of gene therapy. What is most exciting to you about these recent breakthroughs?</h6>
The biggest thing is that since 2017 there are now three new medications used to treat sickle cell. This is phenomenal, but the downside of these medications is that they’re very, very expensive — $70,000 to $100,000 a month. Even though they do well to help manage the disease state, decrease pain episodes and help to prevent organ damage, which means fewer trips to the ER and thus less cost to the healthcare system; patients often encounter barriers from insurance to pay for this medication.
Before 2017, there was just one therapeutic option for treatment; hydroxyurea, which was FDA approved for treating adults with sickle cell disease in 1998 and children in 2017. It was first developed as an anticancer drug and has been used to treat myeloproliferative syndromes-leukemia, melanoma, and ovarian cancer. Its main benefit is to essentially increase hemoglobin F, which in turn helps make red blood cells bigger and less prone to sickling. It&#8217;s done wonders and prolonged people’s lives, but it’s not a cure-all. It doesn’t treat acute pain episodes, and it doesn’t work well with all genotypes. If a person didn&#8217;t respond to it, they were previously left with narcotics for pain or blood transfusions.
But since 2017, three new medications have become available: L-glutamine, voxelotor, and crizanlizumab. They are each disease-modifying drugs, and they’ve advanced care for those with sickle cell by leaps and bounds from where it was 30 years ago.
Beyond that, gene therapy is very promising. If it works like we think it will based on clinical trials, it will be a game changer.
<h6>Talk a bit about the collaboration with 23andMe. Part of the motivation for 23andMe’s Sickle Cell Carrier Status Awareness Program is to increase awareness by giving participants access to their sickle cell carrier status information. Why is that so important from your point of view?</h6>
I see this as an opportunity to remove a barrier to screening. Typically, young adults don’t get tested, but if you can target people in the family planning years between the age of 18 and 45, there’s more of a chance to know if you are a carrier before you decide to have children. It’s best to have that information before one begins the family planning process so you are not blindsided and you have options.
<h6>Participants in this program can also participate in research, but can you discuss the importance of having more diversity in genetic research, particularly around sickle cell disease?</h6>
Yes, it is important and when I talk to patients, they want to have the option to choose whether or not to participate in research. They like the idea of learning more about their carrier status for the sickle cell trait, and they like having access to 23andMe’s other health reports. But when you look at the history of African Americans and other minorities and clinical research, it&#8217;s a touchy subject. They don’t want to feel lied to or manipulated. It’s not that they don’t want to participate but they want the autonomy to choose to participate or opt out the entire way through the process and know that they have a voice in what happens with their information. And that’s what 23andMe does.
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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’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>.

Personal Experience Motivates Dr. Lametra Scott’s Work to Raise Awareness of Sickle Cell

Here’s Noura Abul-Husn’s recipe for a meaningful career in genomics: Start with curiosity, add adaptability, sprinkle in a willingness to pursue a non-traditional path, and don’t forget to include the most critical ingredient of all – passion.



Following this recipe brought Noura, MD, PhD, to 23andMe, where she recently assumed the role of Vice President of Genomic Health.



Noura spoke with us about her plans to bring genomic medicine into clinical care and her commitment to “keeping people as healthy as possible for as long as possible.”



The following is an edited excerpt of our conversation.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="522" height="639" src="http://35.88.189.111/wp-content/uploads/2022/09/Noura-Headshot-crop.png" alt="" class="wp-image-30267" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/Noura-Headshot-crop.png 522w, https://blogcms.23andme.com/wp-content/uploads/2022/09/Noura-Headshot-crop-245x300.png 245w" sizes="auto, (max-width: 522px) 100vw, 522px" /><figcaption class="wp-element-caption">Noura Abul-Husn, MD, PhD</figcaption></figure>



<h6 class="wp-block-heading" id="h-what-inspired-you-to-pursue-a-career-in-genetics-and-genomics">What inspired you to pursue a career in genetics and genomics?</h6>



I initially wanted to do biomedical research. I was always intrigued by science, which was my driving force.



I knew I wanted to get a PhD., but I also needed a strong clinical background to inform the type of research I wanted to do and make it as meaningful as possible to human health.



I initially did an MD-PhD program with the intention of being a scientist, and somewhere along the way, I realized I liked the patient care side of things too.



So, I ended up doing a dual residency in internal medicine and medical genetics. I loved internal medicine because you have to know a little about most diseases that touch adult patients, and I liked the broad scope of understanding human health and disease.



Medical genetics is very different. The way you train for it is you learn about rare diseases that mostly impact pediatric patients. But I was drawn to the specialty because we were starting to understand that genomics touches every aspect of disease in people at every stage of their life.



I felt that a combination of general adult medicine combined with a strong genetics background put me in the position to understand­ the potential of genomic medicine.



I’ve always been excited about genomics because it’s cutting-edge medicine, and it’s constantly changing. As a result, you have to learn and evolve and think about new ways to innovate.



I also think genomics is central to the future of healthcare, and that future is now. The healthcare industry can leverage the vast amounts of data generated through genomics to keep people as healthy as possible for as long as possible. And though that isn’t happening to the extent that it could be, I think 23andMe is poised to make a real impact.



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



I’m the Vice President of Genomic Health, which is a new position. I’m focused on bringing the 23andMe genetics product into clinical care. I’m thinking about how genetic information can contribute to keeping people healthy, preventing and diagnosing disease, and managing genetic conditions or genetic risks.



I’ll be working closely with the product team and others to execute this new vision and strategy.&nbsp;



<h6 class="wp-block-heading" id="h-what-accomplishments-are-you-most-proud-of">What accomplishments are you most proud of?</h6>



My biggest personal accomplishment? I had twins! My first instinct when I learned I was having twins was to worry that I would have to stop working and give up on building a career and becoming a leader in this space.



But I persevered, and here we are! (My twins are five now, and they have an older sister – I don’t want to leave her out).&nbsp; I think that was a turning point for me. I had to ask myself, “do I want to continue to work this hard and try to figure things out with an unexpectedly large and growing family?”



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<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1181" height="1574" data-id="30266" src="http://35.88.189.111/wp-content/uploads/2022/09/4-At-Work.jpg" alt="Noura at work" class="wp-image-30266" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work.jpg 1181w, https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work-885x1180.jpg 885w" sizes="auto, (max-width: 1181px) 100vw, 1181px" /><figcaption class="wp-element-caption">Noura and her oldest daughter hard at work</figcaption></figure>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1158" height="1544" data-id="30265" src="http://35.88.189.111/wp-content/uploads/2022/09/5-Mont-Royal-rotated.jpg" alt="Noura and family" class="wp-image-30265" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/5-Mont-Royal-rotated.jpg 1158w, https://blogcms.23andme.com/wp-content/uploads/2022/09/5-Mont-Royal-rotated-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2022/09/5-Mont-Royal-rotated-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/09/5-Mont-Royal-rotated-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2022/09/5-Mont-Royal-rotated-885x1180.jpg 885w" sizes="auto, (max-width: 1158px) 100vw, 1158px" /><figcaption class="wp-element-caption">Noura with her family in Montreal</figcaption></figure>
</figure>



Professionally, I took a very non-traditional path as an MD-PhD physician-scientist. First, I started in academia and went to industry for a couple of years. Then I returned to academia, and now I’m back in industry at 23andMe.



In my prior role at Mount Sinai, where I was for four years, I had an opportunity to build something from scratch that I am very proud of. I started a new Division of Genomic Medicine – one of the only divisions of its kind – which had its own Genomic Health Clinic and a unique genomics training program for residents.



We also developed a research program at Mount Sinai focused on expanding the reach of genomic medicine to diverse and underserved populations. I ended up doing many things that may seem different and disparate from each other. Still, they all led towards the same end goal of bringing genomic medicine into clinical care in the most equitable way possible.



<h6 class="wp-block-heading" id="h-what-differentiates-the-work-23andme-is-doing-from-other-organizations">What differentiates the work 23andMe is doing from other organizations?</h6>



23andMe has always put the consumer – the person – first. They’ve always thought about how to serve a person best and look at that person as an individual using genetic information.



I think that’s extremely powerful. It’s a unique approach to genomic medicine and a unique approach to medicine generally. We practice medicine today based on science that puts people together into cohorts or groups and figures out what medication or management strategy works for most people in that group.



Over the last few decades, we have learned that this one-size-fits-all model doesn’t optimize health for everyone and that we could do better. And we have information at our disposal to make more informed choices, but because it’s a slow-moving field, we don’t optimally use that information the way we could.



23andMe has always had the intention to change that. And that’s what attracted me to this role – the opportunity to leverage genomic information to help us tailor treatment and think about an individual&#8217;s risk for developing disease.



The idea of making this a priority for 23andMe is exciting! I can’t emphasize how incredible it is to be a part of this revolution.

Meet Dr. Noura Abul-Husn, our Vice President of Genomic Health

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

After the Click, Paulo Protects His Heart

23andMe was founded with a mission: to help all people access, understand, and benefit from the human genome.
&nbsp;An inclusive, equitable workplace is essential to that mission. While our company is based on the recognition that we’re all linked by a common genetic thread, we celebrate our differences. We know that unique experiences and perspectives fuel innovation and create solutions that work for everyone.
&nbsp;We developed a four-pillar framework two years ago to guide and advance our diversity efforts. As part of these efforts, we committed to annually sharing our hiring and staff composition data and highlighting areas where we’ve fallen short. 
<img loading="lazy" decoding="async" class="aligncenter wp-image-29897 size-full" src="http://35.88.189.111/wp-content/uploads/2022/06/company-overall-e1669683045572.png" alt="company dei statistics" width="1526" height="1060" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/company-overall-e1669683045572.png 1526w, https://blogcms.23andme.com/wp-content/uploads/2022/06/company-overall-e1669683045572-300x208.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/06/company-overall-e1669683045572-768x533.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/06/company-overall-e1669683045572-1024x711.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/06/company-overall-e1669683045572-880x611.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/06/company-overall-e1669683045572-1180x820.png 1180w" sizes="auto, (max-width: 1526px) 100vw, 1526px" />
<img loading="lazy" decoding="async" class="aligncenter wp-image-29902 size-full" src="http://35.88.189.111/wp-content/uploads/2022/06/gender_stem_use.png" alt="gender in STEM" width="1384" height="1038" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/gender_stem_use.png 1384w, https://blogcms.23andme.com/wp-content/uploads/2022/06/gender_stem_use-300x225.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/06/gender_stem_use-768x576.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/06/gender_stem_use-1024x768.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/06/gender_stem_use-880x660.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/06/gender_stem_use-1180x885.png 1180w" sizes="auto, (max-width: 1384px) 100vw, 1384px" />
An Overview
The <a href="https://www.23andme.com/diversity-equity-inclusion/#workforce">latest numbers</a> suggest that our staff is becoming more diverse. Twenty percent of our new hires come from communities where we traditionally lack representation. In our workforce, women comprise 46 percent of our STEM positions and more than half of our non-STEM employees.&nbsp;&nbsp;
<img loading="lazy" decoding="async" class="aligncenter wp-image-29904" src="http://35.88.189.111/wp-content/uploads/2022/06/overall-representation-data.png" alt="overall representation data" width="540" height="303" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/overall-representation-data.png 512w, https://blogcms.23andme.com/wp-content/uploads/2022/06/overall-representation-data-300x168.png 300w" sizes="auto, (max-width: 540px) 100vw, 540px" />
<img loading="lazy" decoding="async" class="aligncenter wp-image-29901" src="http://35.88.189.111/wp-content/uploads/2022/06/New-Hire-Representation-by-Proportion.png" alt="New Hire Representation by Proportion" width="590" height="364" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/New-Hire-Representation-by-Proportion.png 685w, https://blogcms.23andme.com/wp-content/uploads/2022/06/New-Hire-Representation-by-Proportion-300x185.png 300w" sizes="auto, (max-width: 590px) 100vw, 590px" />
But the numbers also show that we still have work to do. We saw fewer employees identifying as Latinx and increased attrition rates among other underrepresented groups so far in 2022, including Black employees. 
<h6>New Hires and Workforce Representation</h6>
In 2021, we set a goal to ensure that 20 percent of our new hires come from communities where we lack representation. We’re proud to say we reached that goal.
We saw an <a href="https://www.23andme.com/diversity-equity-inclusion/">increase</a> in the overall representation of underrepresented groups within our workforce, with the total percentage increasing from 12.5 percent to 13.7 percent. However, we also identified a decrease in the Latinx&nbsp;group due to attrition.
We also made modest progress in our leadership ranks, especially with regard to representation from underrepresented groups. 
<img loading="lazy" decoding="async" class="aligncenter wp-image-29905 size-full" src="http://35.88.189.111/wp-content/uploads/2022/06/leadership-data-use.png" alt="leadership data" width="1392" height="1044" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/leadership-data-use.png 1392w, https://blogcms.23andme.com/wp-content/uploads/2022/06/leadership-data-use-300x225.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/06/leadership-data-use-768x576.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/06/leadership-data-use-1024x768.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/06/leadership-data-use-880x660.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/06/leadership-data-use-1180x885.png 1180w" sizes="auto, (max-width: 1392px) 100vw, 1392px" />
<h6>Building a Pipeline&nbsp;</h6>
We’re committed to continuing this momentum by investing in programs and partnerships that help attract diverse job candidates and grow our talent pool.&nbsp;
We’ve partnered with <a href="https://www.sacnas.org/">SACNAS</a>, a non-profit dedicated to fostering the success of Chicanos/Hispanics and Native Americans in STEM. We attend their annual conferences and have hosted panels for graduate student members of SACNAS who are interested in moving from academia to industry.&nbsp;
And each year, we invite Bay Area high school students from <a href="https://streetcode.org/">StreetCode Academy</a> to visit our company and learn more about our work.&nbsp;
We’re also deepening our relationships with organizations that serve underrepresented communities by attending and recruiting at events like the <a href="https://disabilityin.org/2022conference/">Disability:IN</a> conference and <a href="https://afrotech.com/">AfroTech</a>. 
<h6>Equitable Hiring&nbsp;</h6>
We’re paying close attention to how we assess talent at each step of the hiring process.&nbsp;
We’ve increased candidate referral bonuses and assembled diverse interview panels. And we’ve recently added a Diversity Recruiting Program Manager who will oversee our hiring goals. 
<h6>Renewed Focus on Retention</h6>
We’re not just interested in attracting talent; we’re also committed to ensuring our employees stay and thrive. Though we’ve made progress in hiring, our retention numbers aren’t where we want them to be. We’re sharing this information with our leaders so they are better positioned to be deliberate about retention efforts.&nbsp;
We’ve implemented several policies to address this and have leveraged new resources to improve the employee experience. We’ve maximized our remote work options and are revisiting relocation and education reimbursement benefits. And our 10 Employee Resource Groups (ERGs) are instrumental in creating inclusion and a sense of belonging. 
<h6>Expanding our Definition of Diversity</h6>
We acknowledge that this data set only shows diversity through the lens of race and ethnicity. We’re committed to expanding our data to include demographics such as age and disability. This will help to give us a more complete picture of our workforce.&nbsp;
<img loading="lazy" decoding="async" class="aligncenter wp-image-29896 size-full" src="http://35.88.189.111/wp-content/uploads/2022/06/age-e1669683566969.png" alt="age data" width="1097" height="987" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/age-e1669683566969.png 1097w, https://blogcms.23andme.com/wp-content/uploads/2022/06/age-e1669683566969-300x270.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/06/age-e1669683566969-768x691.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/06/age-e1669683566969-1024x921.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/06/age-e1669683566969-880x792.png 880w" sizes="auto, (max-width: 1097px) 100vw, 1097px" />
<h6><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-29898" src="http://35.88.189.111/wp-content/uploads/2022/06/disability-e1669683607256.png" alt="disability data" width="943" height="1024" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/06/disability-e1669683607256.png 943w, https://blogcms.23andme.com/wp-content/uploads/2022/06/disability-e1669683607256-276x300.png 276w, https://blogcms.23andme.com/wp-content/uploads/2022/06/disability-e1669683607256-768x834.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/06/disability-e1669683607256-810x880.png 810w" sizes="auto, (max-width: 943px) 100vw, 943px" />What’s Next</h6>
Going forward, we’ll continue to approach diversity, equity, and inclusion in the same way we approach scientific discovery: as a work in progress that requires continual collaboration, rigor, creativity, and accountability.
As our CEO Anne Wojcicki <a href="https://www.23andme.com/black-lives-matter/">wrote</a> in 2020, “The best thing we can do is lead by example and impact all the lives connected to 23andMe. That means looking at our culture, evaluating our partnerships, and taking a deeper look at our product. In the spirit of our core values, ‘we will make mistakes, but we will learn from them and keep blazing forward.’”

DEI — Page 3