By Adam Auton, 23andMe Vice President, Human Genetics
For scientists at 23andMe, the recent announcement of taking our <a href="https://investors.23andme.com/news-releases/news-release-details/23andme-initiates-phase-1-clinical-trial-first-wholly-owned">first wholly-owned cancer drug</a> into a clinical trial is beyond exciting. This is a huge milestone for the company and for our Therapeutics group. 
As a scientist and vice president for human genetics at 23andMe, I would love for more people to understand how important this is; not just for us at 23andMe, but also as a demonstration of how genetic research is transforming drug discovery.
So, I&#8217;m writing this post to explain how our unique database shapes our approach to drug target discovery. The intent is to share more about how we use both genetic information and non-genetic information together in the largest database of its kind. We are generating insights backed by human genetics at an unprecedented scale so that more people can benefit from what we learn about the human genome.
The two things to know is that at 23andMe, it all begins with human genetics, but it doesn&#8217;t end there. 
But before diving into that, let’s take a detour using a real-world example to explain a bit about 23andMe’s unique research model and how it sets us apart.
<h6>The 23andMe COVID-19 Study </h6>
23andMe isn&#8217;t developing vaccines or therapies for COVID-19, so what does that have to do with this topic? Put simply, what we were able to do as scientists studying COVID-19 is a beautiful illustration of the power of our research model. Let me explain.
Early in the pandemic, the scientists at 23andMe, like scientists around the world, asked ourselves, &#8220;what can we do to help?&#8221; 
23andMe has a very, very large database of re-contactable customers who have consented to participate in our research. That gives us the power to study all manner of diseases, including COVID-19. 
We were curious whether there was something we could learn about the disease that could reveal more about its biological mechanisms and offer insights about potential ways to treat it. Specifically, we wanted to understand why some people get very sick with COVID-19, whereas others experience an asymptomatic infection. Why is this? Could genetics play a role?
We set up our <a href="https://you.23andme.com/covid19-study/">COVID-19 Study</a> and asked our research participants questions about their experience with the virus. In a matter of a few months, we had more than 1.2 million people participating in our study and we were able to generate a host of findings. 
We found that <a href="https://blog.23andme.com/23andme-research/blood-type-and-covid-19/">blood type</a> plays a role in the susceptibility to the virus and a locus on chromosome 3 appears to influence severity in symptoms among those who get it. And we found genetic associations with the loss of <a href="https://blog.23andme.com/23andme-research/loss-of-smell-covid-study/">smell and taste</a> among those with the virus. 
Additionally, we investigated differences in <a href="https://blog.23andme.com/23andme-research/covid-19-vaccine-reactions/">vaccine reactions</a> among people. We also have some of the largest cohorts of underrepresented populations, which allowed us to discern some of the different impacts the virus has had on people of <a href="https://blog.23andme.com/23andme-research/impact-disparities-of-covid-19/">different ethnicities</a>. And we were able to share these findings with the scientific community, our customers, and the public at large as soon as we made them. 
This is a great example of science in action. Recruiting and surveying large numbers of individuals regarding their experiences with a specific disease would usually take years. In this case, we were able to go from a scientific idea to a collection of results in a matter of weeks or months.
That&#8217;s the power of what we can do with our large-scale research platform that includes millions of people from diverse backgrounds who have consented to participate in research. 
This relates to drug discovery in that it demonstrates the power of our research engine to discern important and relevant genetic associations quickly. But, of course, there are a number of steps and a lot more work that needs to happen after making those initial findings. 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="914" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-914x1024.jpg" alt="" class="wp-image-29489" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-914x1024.jpg 914w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-268x300.jpg 268w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-768x861.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic-785x880.jpg 785w, https://blogcms.23andme.com/wp-content/uploads/2022/02/COVID-Study-Graphic.jpg 1026w" sizes="auto, (max-width: 914px) 100vw, 914px" /></figure>
 
<h6></h6>
<h6>23andMe Therapeutics</h6>
Traditional drug discovery and development is incredibly inefficient and expensive. Developing a drug is difficult. On average, it can cost <a href="https://jamanetwork.com/journals/jama/article-abstract/2762311">about $1 billion</a> according to some estimates and can take more than a decade. And the failure rate for new drug development is more than <a href="https://www.nature.com/articles/s41598-019-54849-w">90 percen</a>t.
But suppose you start that process with evidence that a naturally occurring genetic variant within your target gene is associated with a particular disease. Studies have shown that the chances of successfully developing a drug against that gene are significantly increased, perhaps by a factor of two. Given this type of evidence, you can focus on targets that have the most promise for success and thereby accelerate the pace of developing a drug. In an industry where just one in ten drugs makes it to patients, the potential impact on transforming this expensive and time-consuming process is enormous. 
To find genetic associations relevant to targets, large datasets are important. As approximately 80% of 23andMe customers consent to participate in research, 23andMe has a large enough database to identify many genetic associations across thousands of diseases. In addition, people who consent to participate in our research can remain engaged, allowing our scientists to ask additional questions over time. This can, for instance, allow us to study the progression of different health conditions. Or, if our scientists are interested in better understanding a specific disease condition, we can go back and re-contact people to ask for more detail with regard to that condition, which can further help us understand how genetic variants are causing that specific disease condition.
All this data helps us improve the kind of information we can give back to customers, but it also powers new genetic insights, and over time we hope it will lead to the development of new therapies for people who need them most.
There really isn&#8217;t anything like it right now. 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="528" src="https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-1024x528.jpg" alt="" class="wp-image-29490" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-1024x528.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-300x155.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-768x396.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-880x454.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel-1180x609.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/02/Flywheel.jpg 2036w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6></h6>
<h6>Drug Discovery</h6>
Our research data covers more than 1,000 different conditions.
This gives our scientists a unique opportunity to think about how genetics can reshape the translational science needed to move a potential target into the clinic.
Along with using genetic associations to discover new drug targets, we can also use genetics to understand the best path for a target into the clinic. Specifically, we might see a given target has genetic associations with multiple diseases, and we can use that information to decide where the target might be most beneficial for patients. This information might also allow us to see if a potential drug target is more likely to have serious side effects, in which case we could decide to move on from that target.  
Combining the genetic data with multiple types of phenotypic data gives us a much deeper understanding of each specific gene and the underlying biology, allowing us to really focus our efforts on the targets with the highest chances of successfully becoming a drug. 
Of course, having a genetic association is still a very long way from having a drug! There is a tremendous amount of work to do, and a lot of questions to answer. Even if we find an association, is it in or regulating a gene that we suspect plays a role in the biological mechanism of that disease? Are there experiments we can do to confirm our suspicions? Can the gene in question actually be drugged? Are other groups already working on this gene? What is the unmet medical need in this disease, and do we think drugging this gene would be better than the existing standard of care? We need to answer all of these questions (and many, many more), but by starting with what we believe is the greatest genetic database in the world, we hope that we are able to bring the best opportunities forward in order to help patients in need as quickly as possible. 
<h6>My Background</h6>
I came to 23andMe about seven years ago, just as we formed the Therapeutics division. Previously I was an Assistant Professor of Genetics at Albert Einstein College of Medicine in New York City, where I worked on large-scale genetic analyses looking to understand the genetic underpinnings of human disease. 
When I joined 23andMe, the database was much smaller, but it was clear that the potential was there. Since then, 23andMe has grown such that instead of seeing handfuls of genetic associations for different diseases, we are now seeing many thousands. Seeing this growth has been tremendously exciting.
This enormous database has allowed us to start more than 40 programs — many of which in collaboration with GSK — to develop targets to potentially treat conditions in oncology, immunology, respiratory and cardiometabolic disease.
What is game-changing about what 23andMe is doing is that we can make novel insights that simply aren’t available anywhere else. It is rewarding to see one of those insights lead to the development of a drug in a phase 1 clinical trial.
 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="680" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-680x1024.jpg" alt="" class="wp-image-25740" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-680x1024.jpg 680w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-768x1156.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-585x880.jpg 585w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-784x1180.jpg 784w, https://blogcms.23andme.com/wp-content/uploads/2017/09/©Piter2016-23andMe-AdamAuton-066-scaled.jpg 1701w" sizes="auto, (max-width: 680px) 100vw, 680px" /></figure>
 
<hr />
Adam Auton is the Vice President of Human Genetics at 23andMe and is responsible for computational approaches to target discovery via statistical genetics and computational biology. Before joining 23andMe, Adam was an assistant professor at Albert Einstein College of Medicine, where his group developed algorithmic approaches for using large-scale genomic data to understand human population genetics. Adam earned his DPhil in statistics from Oxford University, before completing his post-doctoral training at the Wellcome Trust Centre for Human Genetics at Oxford, and Cornell University.

23andMe Blog

23andMe Blog Team

23andMe’s Drug Discovery Process Explained

If there’s a sweet spot between discovery and medicine — between answering the big scientific questions of the day, and administering the small but personal care required of the best physicians — then John Matthews is there.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2022/02/HUmans_23andME_me-1-36-1-576x1024.jpg" alt="" width="400" height="711" class="alignright wp-image-29473" />
That has a lot to do with his unique background and experience.
 Born in Malawi to a dad who was an agricultural scientist with a Ph.D., and a mom who worked as a hospital nurse, John grew up curious about both science and medicine. (His parents met in Rhodesia while John’s father was flying in a helicopter over farms and spotted his future wife in a red dress having a picnic among the white of a cotton field.) One of John’s uncles was also a doctor, and John developed a natural affinity toward helping people, even performing first aid on the playground in grade school.
“I learned various solutions to deal with simple problems like how to manage nettle stings or remove grit from the eye, washing grazed knees, bee stings, etc.,” he said. “I was very curious about how the body worked, and why it didn’t.”
Now the senior clinical development fellow on 23andMe’s Therapeutics team, John is still wrestling with those questions. He is both a physician who trained in pulmonary medicine and a scientist with a Ph.D. from the National Heart and Lung Institute at Imperial College in the UK. He worked directly with patients in an intensive care unit at a hospital in London, and after leaving clinical practice he spent years working at companies developing medicines meant to treat people with the kind of serious illness he often attended to on the ward.
And he still draws on his early years as a doctor for inspiration. John points to a handful of patients who he said fundamentally changed him and continue to motivate him. One, in particular, was a dying man with HIV who struggled simply to swallow food. Although there were new anti-retroviral treatments, those treatments didn’t become widely available for patients for another ten years. And those lifesaving drugs weren’t available to help this patient. For John, who cared for this patient as he died, it cemented the need to develop medicines faster.
“It was hard to be in a situation where novel therapeutics were so desperately needed and this patient is a constant reminder of the urgency to find new medicines for severe unmet needs,” John said. 
That’s a central mission for <a href="https://www.23andme.com/therapeutics/">23andMe’s Therapeutics</a> efforts and part of what drew John to work here.
On a day-to-day basis, John focuses on refining 23andMe drug discovery. Some of that involves developing plans for good clinical practice for such things as safety and data management. But he also brings understanding from those early days on the ward caring for people who were sick or dying. He has been instrumental in 23andMe’s efforts studying rare diseases for instance and explaining the science to patient advocacy groups.
We sat down with John to talk about his career, why he came to 23andMe, and what drives him as a scientist and physician.
<h6>You were born in Malawi, can you tell us a little bit about that, and about where you grew up?</h6>
John: “My parents were living in Malawi — Dad started working as an entomologist at Imperial College, in 1967 and through a UK government grant was based in the newly independent country Malawi to study cotton pests. Mum was working for a hospital as a nurse and Dad was doing his Ph.D. 
We left when I was almost five. But I went back just before I qualified as a doctor, visiting Zimbabwe and Malawi, working on a project comparing asthma in urban and rural areas. 
I visited the Makoka research station and the house I grew up in. I trekked out to the countryside and with various guides and contacts found the man who had taken care of me as a child. I went back daily for a few days buying fertilizer and new wellington boots for him — feeling guilty the whole time. He can’t speak English but he had a photo of me in his kitchen. I feel bad that (our family) didn’t do enough for him. My effort now is to regularly fund Kiva loans for Malawians (<a href="http://www.kiva.org">www.kiva.org</a>) and support various efforts in Malawi  — but it always feels like a drop in the ocean.”  
<h6>You trained in medicine and practiced for a while. Why did you go into medicine?</h6>
John: “My mum was a nurse and my uncle Seamus was a pathologist in Dublin. Between my mum and my uncle “medicine” was referred to a lot. I grew up knowing that medicine was a responsibility to care for anyone in need. When I was at school (aged 7-to-10) kids used to come to me in the playground with injuries – and I learned various solutions to deal with simple problems – like how to manage nettle stings or remove grit from the eye, washing grazed knees, bee stings, etc. I was very curious about how the body worked and why it didn’t.”
<h6>You’ve said before that you’re interested in physiology, body metabolism, and aging. Why is that?</h6>
John: &#8220;I did an extra year at medical school to study physiology. I wanted to go deeper into science. Physiology seemed to be the best way to actually look into how the body worked and it seemed a lot more fun than learning more anatomy or biochemistry. The physiology faculty at my medical school were always the best lecturers. The experiments to make discoveries were also more accessible than imagining what was happening in a chemical reaction. I even took part in <a href="https://pubmed.ncbi.nlm.nih.gov/1400059/">human physiology experiments</a> as a subject. 
I was encouraged to study areas with little scientific consensus, such as the control mechanisms of the exercise ventilatory response. I worked in an intensive care unit in London called the Mead ward. It was set up by Professor Ron Bradley, the first full-time intensive care clinician in the UK. He also ran the ICU at St Thomas’ Hospital, London. When I was on the ward, Ron, who had retired, still came in every week to give us tutorials. He had developed a way to estimate cardiac output through his work deriving simple equations that he had developed with quantitative data from human experiments. 
Without going into too much detail, the takeaway for me was that a close physical examination of the patient can give quantitative data on the circulatory state of the patient. The challenge is the ability to capture clinical information and lump or split patients in ways that can help us get to a molecular understanding of disease. 23andMe has pioneered capturing self-report data from the patient, but we haven’t yet mastered capturing the reports of the doctors and nurses that look after them.” 
<h6>What are your hopes for the work you are doing?</h6>
John: “My hope is to see our work yield significant new medicines in the shortest time frame possible.
I’m also very interested in what 23andMe can do around rare diseases. I hope we can communicate the potential of 23andMe to make genetic findings for a large number of rare diseases for which there is very little known currently. 
We’ve recently finished <a href="https://www.medrxiv.org/content/10.1101/2021.06.09.21258643v1">a paper</a> illustrating that potential. There are more than 7,000 rare diseases. Being able to find a genetic basis for some of these conditions could offer valuable insights into diagnosis and treatment. We have the potential to do that for many conditions if we are able to find enough individuals with these conditions to participate in our research.”  
&nbsp;

Patients Inspire Therapeutics Scientist

Editor&#8217;s note: Since we last posted this we&#8217;ve added two new health reports and so we&#8217;ve updated this post for Heart Health Month 2022.&nbsp;
February is American Heart Month: a time to learn about heart disease and healthy lifestyle actions you can take to prevent it.
Heart disease is responsible for over 600,000 deaths in the U.S. each year making it the <a href="https://www.cdc.gov/heartdisease/facts.htm">leading (non-pandemic) cause of death in the U.S</a>. Heart disease includes a number of different conditions that relate to your heart&#8217;s rhythm, muscle, and blood vessels. Luckily there are things we can all do to lower our risk for, or even prevent heart disease. Learning about what your genetics can tell you about your heart, can be a good first step.
<h6>Explore Heart Health</h6>
23andMe Health + Ancestry Service offers a number of reports* on heart-related conditions to explore:
<ul>
<li aria-level="1">Familial hypercholesterolemia (FH) is a genetic condition associated with very high levels of cholesterol in the blood, specifically low-density lipoprotein (LDL), or &#8220;bad&#8221; cholesterol. High cholesterol due to FH increases the risk for early cardiovascular disease, which can lead to a heart attack.</li>
</ul>
<ul>
<li aria-level="1">TTR-related hereditary amyloidosis is a genetic condition caused by the buildup of a protein called transthyretin in the body&#8217;s tissues and organs. This protein buildup, called amyloidosis, can damage different parts of the body including the heart, which can lead to heart failure.</li>
</ul>
<ul>
<li aria-level="1">Type 2 diabetes: In type 2 diabetes, sugar builds up in the blood, which over time can lead to complications like heart disease and stroke. This report is powered by 23andMe Research and can tell you about your genetic chances of developing this condition.</li>
</ul>

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="545" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-545x1024.png" alt="" class="wp-image-28529" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-545x1024.png 545w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-160x300.png 160w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-768x1444.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-468x880.png 468w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1-628x1180.png 628w, https://blogcms.23andme.com/wp-content/uploads/2020/09/Heart-Health-Intro-1-1.png 982w" sizes="auto, (max-width: 545px) 100vw, 545px" /></figure>
 
<h6>Looking to Go Deeper</h6>
For those who want to explore, even more, we offer 23andMe+, an annual membership with 10+ exclusive reports and features delivered to you throughout the year. Some of those exclusive reports, powered by 23andMe Research, include heart-related conditions to explore:
<ul>
<li aria-level="1">Atrial fibrillation is a common type of irregular heartbeat. It occurs when the two upper chambers of the heartbeat irregularly. People with atrial fibrillation have a higher risk for blood clots, stroke, and heart failure.</li>
</ul>
<ul>
<li aria-level="1">Coronary artery disease is a type of heart disease that is typically caused by the buildup of a waxy, cholesterol-containing substance called plaque inside the coronary arteries, which are the major blood vessels that supply the heart with oxygen-rich blood. When plaque builds up in the coronary arteries, the vessels narrow, and blood flow to the heart is decreased.</li>
</ul>
<ul>
<li aria-level="1">High blood pressure, also called hypertension, is when the blood puts too much pressure on the walls of blood vessels, which can lead to heart disease, stroke, and other health problems.</li>
</ul>
<ul>
<li aria-level="1">HDL cholesterol, &nbsp;the so-called “good cholesterol,” higher levels of high-density lipoprotein, HDL, are &nbsp;associated with a lower risk for heart disease. That’s because HDL acts like an arterial cleanser, removing cholesterol from blood vessels and taking it back to the liver for its removal from the body. This helps prevent LDL cholesterol from building up on the walls of blood vessels and restricting blood flow.</li>
</ul>
<ul>
<li aria-level="1">LDL cholesterol, or “bad cholesterol” can increase your risk for heart attack or stroke. This report can tell customers who don&#8217;t have a genetic variant detected in their Familial Hypercholesterolemia Genetic Health Risk report, about their chances of having high levels of &#8220;bad&#8221; cholesterol.</li>
</ul>
<ul>
<li aria-level="1">Triglycerides — a type of fat, or lipid, that the body uses to store energy from food for future use. High triglyceride levels are associated with an increased likelihood of developing heart disease, stroke, and sometimes pancreatitis.</li>
</ul>
Learning more about your genetics can help by raising your awareness of certain heart-related conditions. But it&#8217;s also important to keep in mind that things like your family history, ethnicity, and age can also affect your chances of developing these conditions.
Knowing about your genetics isn&#8217;t the end. Taking healthy actions to lower blood pressure, cholesterol and blood sugar can help lower your risk for heart disease. For many heart-related conditions, your everyday actions play a big role in your overall chances of developing (or developing serious complications from) the condition. Maintaining a healthy weight, getting regular exercise, and eating a heart-healthy diet are some of the recommended ways to keep our hearts healthy. This American Heart Month, think about any new actions you can take to keep your heart beating its best.
<hr>
*23andMe health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports which are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva 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. For important information and limitations regarding each genetic health risk report, visit 23andme.com/test-info/.

Take Action for Heart Health

By Melinda King, 23andMe&#8217;s Director of Diversity, Equity &amp; Inclusion 
Black History Month is meant to celebrate our contributions and acknowledge how far we&#8217;ve come, but for me, all that has happened in the last two years only reminds me how far we still have to go. 
I will never be able to think of this time without being reminded of the murder of George Floyd.   
As a Black woman, a mother of two sons, his brutal murder at the hands of a Minneapolis police officer shook me. It led me to move across the country for a new job and double down on my commitment to change the world where a Black man could have the life choked out of him under the color of law. 
<h6>Addressing Inequality and Injustice</h6>
I thought perhaps it also would be a moment that genuinely shook our country from its indifference to structural racism. But, a year and a half on, I’m not so sure. I fear the momentum to change is wafting away. I feel that is especially true here in Silicon Valley where so many companies make public commitments to take action to address racial inequality and injustice.
My job, the thing I get paid to do, is in part to remind, cajole and argue for inclusion in the workplace. I’m doing this work in Silicon Valley, which has its own diversity problem. There is a lot to be encouraged by but even with espoused commitments to change, it can be a lonely job. Even as I walk the streets of San Jose, I am constantly reminded of who I am and who I’m not. I’m reminded when I walk outside of my overpriced new apartment building only to be asked by the white woman crossing the street with me if it’s a low-income building. That’s because there is sometimes a disconnect between people who see and are shocked by the deaths of George Floyd, or <a href="https://www.runnersworld.com/runners-stories/a32883923/ahmaud-arbery-death-running-and-racism/">Ahmaud Arbery</a>, or <a href="https://www.nytimes.com/article/breonna-taylor-police.html">Breonna Taylor</a>, but can’t see what’s right in front of them. They can’t see how what caused those deaths connects to the structural racism that has excluded people like George or Ahmaud or Breonna, from the broader opportunities of our society. They struggle to connect all the dots that lead to Black people being in life or death situations regularly. 
<h6>The Potential for Positive Change</h6>
That’s why I came here. It’s because Silicon Valley is at the hub of innovation and opportunity.  Failing to embrace diversity here has both a moral and a business cost. We’ve witnessed the power of tech companies to profoundly transform society, both for the good and the bad. Fixing the diversity problem here could have an outsized and positive impact on the rest of the world. However, that requires real commitment. It requires making room for more diversity at the table and listening to those new voices. 
I am not naive to the complexity and history of race problems. I know what it means to be Black in America. I still remember sitting in a segregated doctor’s office as a little girl in rural Alabama. I remember having a hard conversation with my young son after someone called him the “n-word” in his grade school classroom.
<h6>It&#8217;s Everyone&#8217;s Job</h6>
But we don’t have to accept the way things are.
To quote<a href="https://www.nytimes.com/2008/02/05/us/politics/05text-obama.html"> President Barack Obama</a>, “Change will not come if we wait for some other person or some other time. We are the ones we&#8217;ve been waiting for. We are the change that we seek.”
Diversity, equity, and inclusion is my job, but it’s also your job. It’s everyone’s job. It requires each of us to be “the change we seek.”
It means more than words. It means actions. I say that even though it was words that brought me here. I heard the CEO and Co-Founder of 23andMe, Anne Wojcicki, <a href="https://www.23andme.com/black-lives-matter">call out her own company</a> for its failings on inclusion. She was willing to say her company, in the heart of Silicon Valley, was part of the problem. I reached out to her and asked if I could assist in making a change. That’s how I came to work at 23andMe.
Although it was Anne’s words that first drew me here, it’s my commitment to this community, the 23andMe employees, and this work that keeps me going. Since coming here we have brought diversity to our board, added new leaders, and continue to commit to adding more diversity to our organization. We continue to improve our product to make it more inclusive and have created employee groups to support people with different affinities, abilities, and ethnicities. 
<h6>Let&#8217;s Do More</h6>
But it’s not enough. There is so much more for us and other companies to do. We all have to do better. Leaders need to step outside their current network and develop relationships with people of different backgrounds. If you think that can’t happen, know that Black people have had to do that for generations in order to survive in corporate America. Challenge others when you see them sharing a narrative of “we are all the same.” While it’s a lovely sentiment, it’s not true. 
That brings me back to George Floyd, and my moment of clarity. It wasn’t that it reminded me of what I already know, it simply prompted me to focus on doing more to change the world that allows for something like that to happen. Tapping that resolve is what will help us keep our commitment, to do more than just talk about diversity, equity, and inclusion.
Let’s move away from all the things we say we will do and focus on actually doing the work that has an impact for the communities who have been left behind in the past.

Melinda King

The Change We Seek

Skin cancer is the <a href="https://linkinghub.elsevier.com/retrieve/pii/S0749379714005108">most common</a> form of cancer, but it&#8217;s also one of the most preventable. 
Fortunately, knowing your risk along with protecting your skin from the sun can lower your chances of developing all three common forms. Early detection — often through self-exam and mole checks — can also go a long way toward ensuring healthy outcomes. 
In the U.S. alone, an estimated 3.3 million people are diagnosed with basal cell or squamous cell cancers each year, according to the American Cancer Society. Melanoma makes up a small percentage of all skin cancers, but it is the most lethal, contributing to the vast majority of skin cancer-related deaths, according to statistics from the <a href="https://www.cdc.gov/cancer/uscs/about/data-briefs/no9-melanoma-incidence-mortality-UnitedStates-2012-2016.htm">Centers for Disease Control and Prevention</a>.
<h6>23andMe+</h6>
As part of 23andMe+, members can now access two reports on these three common forms of skin cancer. These include a Skin Cancer (Melanoma) report, and a Skin Cancer (Basal and Squamous Cell Carcinomas) report. Both are powered by 23andMe Research.
The new reports use machine learning techniques to estimate a person&#8217;s likelihood of developing one of these forms of skin cancer. In the report on Skin Cancer (Basal and Squamous Cell Carcinomas), we make the estimate by using a statistical model that includes more than 11,000 genetic variants into account. For the report on Skin Cancer (Melanoma), the statistical model includes more than 1,800 genetic variants. The reports also take into account a person&#8217;s ethnicity and birth sex.
<h6>Skin Cancer Risk and Ethnicity</h6>
Because these types of skin cancers are so rare among certain ethnicities, we cannot provide genetic results for everyone at this time. In the cases of people of East and Southeast and South Asian descent, the likelihood of developing one of these cancers is so small that statistical models predicting these likelihoods based on genetics do not meet our scientific standards.
These models include customers’ results for thousands of genetic markers and are available for people of European, Latino, Northern African, Central and Western Asian as well as Sub-Saharan African descent. So, in the report on basal and squamous cell carcinomas, we are unable to provide a genetic likelihood for people of East and Southeast Asian and South Asian descent. In addition, in the report on melanoma, we are unable to provide a genetic likelihood for people of East Asian, Southeast Asian, South Asian, and African descent.  
While skin cancer can develop in people of all ethnicities, people of European descent have a much higher risk. The lifetime risk for melanoma is about two percent for people of European descent, but only about .1 percent among those of African descent. For people of Latino or Hispanic descent, it&#8217;s a little more than half a percent. But for people with darker skin, diagnosing melanoma often happens much later, resulting in potentially worse outcomes. In addition, people with darker skin are much more likely to develop melanoma in locations that get less sun, such as the palms of the hands, soles of the feet, beneath the fingernails, or even inside the mouth.
That&#8217;s what makes both prevention and skin self-exam so important. Experts recommend knowing the <a href="https://www.aad.org/public/diseases/skin-cancer/find/at-risk/abcdes">ABCDEs of melanoma</a> and performing a skin self-exam about once a month. It&#8217;s important to keep an eye on your skin and talk to a healthcare professional like a dermatologist if you notice any changes, including new or changed moles, bumps, or sores.
<h6>A Little Bit More About Skin Cancer</h6>
Basal and squamous cell carcinomas usually develop on areas of the skin that are more exposed to the sun, like the face and hands. The first sign might be a bump, growth, or a sore that doesn&#8217;t heal. For people with darker skin, these types of cancers often appear more like a dark brown or black bump that might be glossy and have a rolled border. Both are typically very treatable, tend to grow slowly, and often remain in the first layers of skin.
Melanomas are different and much more serious. While they can appear in much the same way, or develop from an existing mole, what happens below the skin&#8217;s surface is what makes them so dangerous.
That&#8217;s because melanomas are more likely than other skin cancers to spread locally or metastasize to other parts of the body. Again, this is why early detection is so important so that they can be treated before cancer can spread.
<h6>Research</h6>
In the case of skin cancer, we know that environmental factors, particularly sun exposure and repeated sunburns, increase the risk substantially. But research has found that genetic factors and specific traits also play a role.
23andMe has been involved in several research projects to create polygenic scores that would better estimate the likelihood of developing skin cancer. These <a href="https://blog.23andme.com/23andme-research/skin-cancer-risk-model/">statistical models</a> incorporate not just genetic variants but also family cancer history, skin pigmentation, sun exposure and body mass index, for instance. 
Not long ago, using data from consented 23andMe research participants, researchers from Indiana University found new genetic variants associated with <a href="https://blog.23andme.com/23andme-research/new-genetic-research-on-skin-cancer/">squamous cell carcinomas</a>. And a few years before, researchers at Stanford, also using 23andMe data, found new genetic variants associated with <a href="https://www.oncotarget.com/article/15230/">the risk of melanoma</a>. Most recently, a team of researchers in Australia, with the help of 23andMe data, found more than 70 genetic variants associated with melanoma and identified correlations between melanoma and <a href="https://www.jidonline.org/article/S0022-202X(21)02513-6/fulltext#secsectitle0070">autoimmune diseases</a> such as psoriasis and rheumatoid arthritis. 
<h6>Taking Action</h6>
Being vigilant especially for new moles or discolored skin, and protecting your skin from the sun, all can help lower the likelihood of developing skin cancer.
Self-exam is a little tougher for areas like your back so having a partner, your doctor, or a dermatologist take a look is a good idea.
Everyone should be aware of the risk for skin cancer,  but some individuals have more risk than others. Individuals with lighter-skin, or a lot of moles, or who sunburn easily, or who have a family history of skin cancer, should be particularly vigilant. 
Sun protection is important, but it&#8217;s also a good idea to avoid tanning beds. 
<h6>More</h6>
23andMe&#8217;s new skin cancer reports (powered by 23andMe research) are available to all annual subscribers to the 23andMe+ Membership.  To learn more about your report, go <a href="https://you.23andme.com/reports/prs.skin_cancer_melanoma/">here</a> and <a href="https://you.23andme.com/reports/prs.skin_cancer_bcc_scc/">here</a>. 
Not yet an annual subscriber to the 23andMe+ Membership?
Find out more <a href="https://www.23andme.com/membership">here</a>.

New 23andMe+ Reports on Skin Cancer

23andMe’s research that has identified genetic variants associated with the loss of smell or taste due to COVID-19 was published today in the journal <a href="https://www.nature.com/articles/s41588-021-00986-w">Nature Genetics</a>. 
As part of 23andMe’s ongoing research on COVID-19, the findings were<a href="https://blog.23andme.com/23andme-research/scientists-find-genetic-link-to-loss-of-smell-among-covid-19-patients/"> first reported</a> in June of last year. The paper offers more detail on the study, which identified variants near two olfactory genes — UGT2A1 and UGT2A2.
&#8220;We&#8217;re delighted to see this manuscript published,” said Adam Auton, 23andMe’s Vice President for Human Genetics. “It is another example of how data contributed by 23andMe customers can provide unique insights into COVID-19. It really wouldn&#8217;t be possible without our customers, and we&#8217;re extremely grateful to everyone that participated in this research.&#8221;
<h2>Common Symptoms</h2>
Loss of smell and or taste, also called anosmia, is a hallmark symptom of COVID-19. It is often the earliest indication of infection, and in some cases, the only symptom. An individual with one copy of the variant is about 11.5 percent more likely to lose their sense of smell or taste if infected compared to someone with zero copies.
For this work researchers* conducted a genome-wide association study (GWAS) using data from more than 69,000 23andMe customers who consented to participate in research.  Along with identifying variants implicating the two olfactory genes, the study also noted that loss of taste and smell after COVID-19 was most common among women and younger research participants. It was less common among research participants of East Asian or African American ancestry.
<h2>Long Haulers</h2>
The research is part of ongoing work by 23andMe since the beginning of the pandemic in 2020. Among the areas of study is research on<a href="https://blog.23andme.com/23andme-research/23andme-covid-study-published/"> the role blood type plays</a> in severity and susceptibility to the virus, and insights into the genetics that influence<a href="https://blog.23andme.com/23andme-research/reaction-to-covid-vaccine/"> different reactions</a> to COVID-19 vaccines. In addition, researchers are currently studying so-called long haulers, individuals with continued health effects weeks, months or longer after infection, to determine whether genetics plays a role.
For the loss of taste and smell study, the researchers found that about two-thirds of participants who tested positive for the virus reported loss of smell or taste. In addition, the researchers working on this study also ran separate GWAS for individuals of European, Latino, African American, East Asian, and South Asian ancestries, and then combined the data via a meta-analysis. The researchers found the risk variants for loss of taste or smell most common among people of European ancestry, and least common among those of East Asian ancestry.
Because the novel coronavirus SARS-CoV-2 first enters the body and accumulates in olfactory support cells, the findings may offer researchers important insights into the biological pathway for infection. 
To read the full paper go to <a href="https://www.nature.com/articles/s41588-021-00986-w">Nature Genetics</a>.  You can learn more about 23andMe&#8217;s COVID-19 study <a href="https://you.23andme.com/covid19-study/">here</a>.
Many thanks to the over 1 million research participants who answered our questionnaire and made this research possible. 
<hr />
*The 23andMe COVID-19 research team includes: Adam Auton, Adrian Chubb, Alison Fitch, Alison Kung, Amanda Altman, Andy Kill, Anjali Shastri, Antony Symons, Catherine Weldon, Chelsea Ye, Daniella Coker, Janie Shelton, Jason Tan, Jeff Pollard, Jey McCreight, Jess Bielenberg, John Matthews, Johnny Lee, Lindsey Tran, Maya Lowe, Michelle Agee, Monica Royce, Nate Tang, Pooja Gandhi, Raffaello d’Amore, Ruth Tennen, Scott Dvorak, Scott Hadly, Stella Aslibekyan, Sungmin Park, Taylor Morrow, Teresa Filshtein Sonmez, Trung Le, and Yiwen Zheng.

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

23andMe Study on Loss of Smell and Taste Due to COVID-19 Published

For Jessica Diaz, a stroke at 36 didn&#8217;t just alter the course of her life; it&#8217;s driven her to help other women who might unknowingly be at risk for the same thing.
You&#8217;ve probably heard the maxim that &#8220;knowledge is power,&#8221; but what is the opposite of that?
It disturbed Jessica that so many people didn&#8217;t even know they might carry the risk that led to her brush with death. It bothered her that people didn&#8217;t realize that either a direct-to-consumer genetic test or blood test could easily detect it. Those tests offer people a chance to take steps to lower their risk. So, Jessica went on a mission to bring that knowledge to others.
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="683" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2022/01/JessicaDiazAHA-683x1024.jpeg" alt="" class="wp-image-29425" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/01/JessicaDiazAHA-683x1024.jpeg 683w, https://blogcms.23andme.com/wp-content/uploads/2022/01/JessicaDiazAHA-200x300.jpeg 200w, https://blogcms.23andme.com/wp-content/uploads/2022/01/JessicaDiazAHA-768x1152.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/01/JessicaDiazAHA-587x880.jpeg 587w, https://blogcms.23andme.com/wp-content/uploads/2022/01/JessicaDiazAHA-787x1180.jpeg 787w, https://blogcms.23andme.com/wp-content/uploads/2022/01/JessicaDiazAHA-scaled.jpeg 1707w" sizes="auto, (max-width: 683px) 100vw, 683px" /></figure>
 
<h6></h6>
<h6>Factor V Leiden</h6>
It started with her health scare nine years ago. A massive headache, and partial paralysis along her left side, led her husband to take her to the emergency room. Lying on a hospital bed after several tests, she listened in disbelief as doctors told her the diagnosis.
She&#8217;d had a stroke.
That didn&#8217;t compute for the then 36-year-old mother of two young children. Jessica didn&#8217;t even know that people her age could have a stroke. Not only that, but she was the model of health, a Barre class instructor, and a yoga enthusiast, so it was hard to accept what she was hearing. 
Testing at the hospital revealed she had a genetic variant called Factor V Leiden, which put her at a higher risk for blood clots.
&#8220;I&#8217;d never even heard of it before,&#8221; she said.
<h6>Harmful Blood Clots</h6>
She&#8217;s not alone. Most people have never heard of it, but the condition is not uncommon. More than five percent of the population in the United States have Factor V Leiden and the variant is most common in people of Northern European ancestry. Having it increases the risk of forming harmful blood clots which can develop in the legs and are known as deep vein thromboses (DVTs). The clots can also travel to the lungs and become pulmonary embolisms. Other factors might also increase risk: breaking a hip or leg; being immobilized for a very long time while lying in a hospital bed or traveling on a very long flight; pregnancy; and taking birth control pills.
Again, Jessica knew none of this.
&#8220;How is it possible that women don&#8217;t know this?&#8221; she thought.
In her case, the doctors believed that her having Factor V Leiden in combination with a previously undiagnosed congenital heart defect — a small hole in her heart known as a patent foramen ovale — ultimately led to the stroke. The clot had formed in her heart and then traveled to her brain.
<h6>Recovery</h6>
Jessica was lucky to have only spent a week in the hospital. Her recovery was relatively fast. She didn&#8217;t end up with long-term brain damage or paralysis, as can happen with other stroke survivors. About six months after the stroke, she underwent 10-hour open-heart surgery to repair the hole in her heart. Now nine years on, she&#8217;s healthy and fit. She also knows how lucky she is. Lucky that she got to the hospital within the critical early hours of a stroke. Lucky that she was near a good hospital, where they&#8217;re renowned for their treatment of strokes. And lucky that her insurance covered the costs. 
The experience changed how she approached her health. She eats a little differently now, stays hydrated, and knows to avoid estrogen-containing oral contraception and hormone therapies.
<h6>Educating Herself and Others</h6>
But after the stroke, she also began to educate herself. The experience didn&#8217;t just change the trajectory of her life,  it motivated her to help change the fate of others. Genetics played a role in her risk, so she alerted her sister, who was pregnant at the time. Her sister tested, and she too had Factor V Leiden. Her sister was put on a blood thinner through the pregnancy to lower her risk for a clot or miscarriage.
And Jessica began to do even more. She couldn&#8217;t get the idea out of her head about how few women knew of this risk. She became an ambassador for the American Heart and Stroke Association. Then she began what turned into a multi-year effort to get legislation passed in Massachusetts to have better screening for women going on birth control. 
“I wanted to ensure that women have all the available information before choosing oral contraceptives,” she said.
She&#8217;s<a href="https://www.purewow.com/wellness/i-had-a-stroke-at-36"> written about her experience</a> and talks about it to other women.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="563" height="617" src="https://blogcms.23andme.com/wp-content/uploads/2022/01/Tarin-Jessica.jpg" alt="" class="wp-image-29428" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/01/Tarin-Jessica.jpg 563w, https://blogcms.23andme.com/wp-content/uploads/2022/01/Tarin-Jessica-274x300.jpg 274w" sizes="auto, (max-width: 563px) 100vw, 563px" /></figure>
 
<h6></h6>
<h6>Meeting Tarin</h6>
This past April, at the beach on vacation with her family in the Caribbean, she began talking to a woman named Tarin Jackson. They learned they live just two miles from each other in Boston but had never met before. Tarin asked Jessica what she does.
&#8220;I shared that I was an ambassador for the American Heart Association and that I was working on a bill for the last six years to ask health care providers for better screening for Factor V Leiden,&#8221; Jessica said.
Tarin immediately asked, &#8220;What&#8217;s Factor V Leiden?&#8221;   
As Jessica began to explain it, Tarin blurted out.
“Wait,” she said, adding that she might have the variant. 
<h6>OMG</h6>
She grabbed her phone and then opened up her 23andMe Hereditary Thrombophilia Genetic Health Risk report. It reports on the Factor V Leiden variant and another variant in the F2 gene associated with a higher likelihood of developing harmful blood clots.*
&#8220;I opened the report and said, ‘&#8230; Oh My God,'&#8221; Tarin said recently.
She indeed had the variant. It was important information because Tarin had recently restarted taking oral contraception. After talking with Jessica, Tarin talked first to her primary care doctor and then gynecologists. 
Tarin did follow-up testing confirming she had Factor V Leiden. Her doctor recommended she stop taking her birth control pill. And then Tarin reached out to family, trying to find out if they had any history of blood clotting. It turns out her father had four blood clots following a surgical procedure after a bike accident. 
Seeing how this information could empower someone like Tarin to lower her risk and take charge of her health was thrilling for Jessica. She continues her work talking to other women like her, raising awareness, and advocating screening women before being prescribed oral contraception.
&#8220;I cannot express my gratitude and excitement to learn that people have access to finding out whether they have (the variant for) Factor V Leiden,&#8221; Jessica said. &#8220;It could be lifesaving.&#8221;
<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 Hereditary Thrombophilia genetic health risk report is indicated for reporting of the Factor V Leiden variant in the F5 gene, and the Prothrombin G20210A variant in the F2 gene and describes if a person has variants associated with a higher risk of developing harmful blood clots. The variants included in this report are most common and best studied in people of European descent. These variants are also found in populations with European ancestry, like African Americans and Hispanics or Latinos.

A Stroke Survivor Wants to Raise Awareness for Other Women

What stories and breakthroughs shaped the year in science and genetics? 
That was the question we asked a group of 23andMe leaders who are experts in everything from human genetics to product science to diversity, equity, and inclusion.
Their wide-ranging responses span disciplines. You’ll find biology breakthroughs, public health declarations, illuminating visualizations, AI technologies, and rigorous scientific debates. 
COVID-19 is well represented in their answers, too, including new gains in scientific literacy as we continue to add terms like “spike protein” and “T cells” to the lexicon. 
The result is a list that collectively embodies our <a href="https://www.23andme.com/about?bst=pff">core value</a> of scientific discovery and captures a year of progress. 
<h2>Virology, Variants, Vaccines: A New Era of Scientific Literacy </h2>
<a href="https://mediacenter.23andme.com/press-release/23andme-announces-the-appointment-of-joseph-r-arron-m-d-ph-d-as-chief-scientific-officer">Joe Arron</a>, Chief Scientific Officer

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="477" src="https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-1024x477.png" alt="" class="wp-image-29418" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-1024x477.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-300x140.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-768x358.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-880x410.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-1180x550.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image.png 1394w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
“Any way you slice it, the biggest story of the year — genetic or otherwise — is the coronavirus pandemic. The global scale of COVID-19’s effects on health, politics, economics, and culture is staggering, but observing biology plays out in real-time has been equally staggering. 
I have been struck by the dramatic rise in scientific literacy across our society. This is partly because scientists, journalists, and politicians have worked to understand and explain rapidly changing developments in viral variants, vaccines, antiviral therapies, epidemiology, and public health guidelines. These explanations often use technical molecular terms that have become part of our everyday language. 
For example, soon after the Omicron variant of SARS-CoV2 was discovered and sequenced, you could find visualizations of a <a href="https://www.nytimes.com/interactive/2021/12/14/science/omicron-variant-science.html">molecular model of the spike protein</a> mutations in the media. As an immunologist, it’s gratifying to see both the public’s interest in such things as antibodies, T cells, and viruses, as well as the patience and enthusiasm with which my colleagues endeavor to explain these complex processes in accessible language. 
While we all hope that this pandemic will soon recede into memory, I also hope that our society will remain engaged in seeking a deeper understanding of science, medicine, and the power of genetic technology to benefit human health.” 

<h2>Racism is a Public Health Crisis for Black Americans</h2>
<a href="https://blog.23andme.com/articles/melinda-king/">Melinda King</a>, Director of Diversity, Equity, and Inclusion and People Business Partner

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="536" src="https://blogcms.23andme.com/wp-content/uploads/2020/09/DEI-Blog-1024x536.png" alt="" class="wp-image-28515" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/09/DEI-Blog-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/09/DEI-Blog-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/09/DEI-Blog-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/09/DEI-Blog-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/09/DEI-Blog-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/09/DEI-Blog.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
“I read an article from 60 Minutes on CBS News recently that shared what most healthcare professionals already know: there is a healthcare disparity gap for minorities compared to their white peers. There are many reasons for this gap, many of which are rooted in the by-products of systemic racism. However, Dr. David Williams, a professor and chair at Harvard’s T.H. Chan School of Public Health, has spent his career researching and sharing information on what the CDC now recognizes: racism itself can be a killer.
Dr. Williams classifies the various levels of mistreatment using an <a href="https://scholar.harvard.edu/davidrwilliams/node/32397">Everyday Discrimination Scale</a>, which includes nine elements designed to assess an individual’s daily experience of discrimination. The scale tries to gauge well-being by asking questions like: 
<ul>
<li style="font-weight: 400;" aria-level="1">How often are individuals treated with less courtesy than others? </li>
<li style="font-weight: 400;" aria-level="1">How often are individuals treated with less respect than others? </li>
<li style="font-weight: 400;" aria-level="1">How often do they receive worse service in restaurants or stores? </li>
<li style="font-weight: 400;" aria-level="1">And how often do people act as if they’re afraid of them?</li>
</ul>
Individuals with a high score tend to also have adverse health outcomes. A high score is associated with high blood pressure, diabetes, cardiovascular disease, and poor mental health.
Dr. Williams’s research also demonstrates that the health of Black Americans suffers whether they are rich or poor, well-educated or not. For example, Black women with college degrees are more likely to see their babies die as infants than white women who didn&#8217;t finish high school. Even when they are treated in the same healthcare settings, Black Americans receive worse care. 
While there is nothing new for me from this article, this has been my ancestors&#8217; journey. And I appreciate the research that supports what we know — racism is a killer. To improve the health and well-being of minorities, we have to spend an equal amount of energy on eliminating racism. 
As a company that leads with science and is focused on improving the health outcomes for everyone, this provides us with another angle to help close the healthcare gap. As we work to conduct research and develop therapeutic solutions, we should also focus equal time and resources to eradicating racism.” 

<h2>Predicting Protein Structures with Atomic Accuracy</h2>
<a href="https://investors.23andme.com/corporate-governance/leadership">Adam Auton</a>, Vice President, Human Genetics

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="400" height="266" src="https://blogcms.23andme.com/wp-content/uploads/2009/10/dnaoragami.jpg" alt="" class="wp-image-5013" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/dnaoragami.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2009/10/dnaoragami-300x200.jpg 300w" sizes="auto, (max-width: 400px) 100vw, 400px" /></figure>
 
“The<a href="https://deepmind.com/blog/article/alphafold-a-solution-to-a-50-year-old-grand-challenge-in-biology"> AlphaFold publication</a> is likely the most impactful research of the year regarding our ability to accurately predict protein structure. 
Understanding protein structure is critical for understanding biological function; knowing how a protein folds allows us to understand its shape and the protein&#8217;s function following that shape. 
However, predicting protein structure from the DNA sequence has been challenging for decades. As a result, only a relatively small number of proteins have had their structures &#8220;solved&#8221; by experimental means. 
This year, the DeepMind team released their AlphaFold technology, which used Machine Learning techniques to make tremendous strides in improving protein structure predictions. This technology has now been used to make structure predictions for every protein in the human genome and really opens a door for understanding biology in a way that wasn&#8217;t possible before.

<h2>The Past – and Future – of mRNA</h2>
<a href="https://www.lemonaidhealth.com/meet-our-lemons">Paul Johnson</a>, CEO, Lemonaid, and Vice President, General Manager Consumer
“The Fast Company article, <a href="https://www.fastcompany.com/90664662/how-biontech-created-a-new-delta-focused-covid-vaccine-in-just-a-few-weeks">How BioNTech created a new delta-focused COVID vaccine in just a few weeks</a>, described how creating some vaccines has become almost as easy as updating software code using mRNA. That was unheard of until recently and is critical as we encounter future viral illnesses and variants. It also lets us re-imagine how we might retool existing vaccines.<img loading="lazy" decoding="async" class="alignright size-full wp-image-29419" src="https://blog-api.23andme.com/wp-content/uploads/2021/12/Vaccine.png" alt="" width="164" height="168" />
Much like software, it&#8217;s now possible for biology to be sequenced and programmed using a &#8220;platform technology&#8221; so that if you change a sequence of the code, it is stable enough that everything else remains the same.  What used to take years now takes weeks. Like many breakthroughs, this discovery of mRNA as a potential platform in care delivery was not an overnight success. It was a consequence of risk-taking, personal sacrifice, and resilience. 
This <a href="https://www.statnews.com/2020/11/10/the-story-of-mrna-how-a-once-dismissed-idea-became-a-leading-technology-in-the-covid-vaccine-race/">background article</a> written before the approval of the mRNA vaccine is equally inspiring. It details the bold vision of Hungarian-born scientist Katalin Karikó, who spent the 1990s getting rejected for her grants for mRNA. 
In 1995, she was demoted when her bosses thought the pursuit of mRNA was a dead end. Yet, she persisted, and the foundational science behind her work is the pillar to our mRNA vaccines today.” 

<h2>Polygenic Scores Enter the Mainstream</h2>
<a href="https://blog.23andme.com/articles/be-fascinated-for-womens-history-month/">Shirley Wu</a>, Director, Product Science

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="155" src="https://blogcms.23andme.com/wp-content/uploads/2021/12/Polygenic-Risk-score-1024x155.png" alt="" class="wp-image-29420" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/12/Polygenic-Risk-score-1024x155.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/12/Polygenic-Risk-score-300x45.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/12/Polygenic-Risk-score-768x116.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/12/Polygenic-Risk-score-880x133.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/12/Polygenic-Risk-score.png 1026w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
“While there have been many compelling genetics stories related to the COVID-19 pandemic, one theme in genetics that I’ve found very interesting this year was the conversation around polygenic scores. 
Polygenic scores are statistical models that combine the effects of potentially thousands or millions of genetic factors, sometimes alongside other factors, to predict the likelihood of a disease or trait in an individual. These started to become part of the academic sphere about five to eight years ago, but this year it became clear that they’ve entered the mainstream. 
Biotech and pharmaceutical companies are leveraging them to improve drug development, healthcare systems are beginning to apply polygenic scores to patient populations, and companies (including 23andMe) are offering them to consumers and healthcare providers. 
With that comes all the <a href="https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00829-7" target="_blank" rel="noopener" data-saferedirecturl="https://www.google.com/url?q=https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00829-7&amp;source=gmail&amp;ust=1641313460594000&amp;usg=AOvVaw09nnlrAHzEpbAqzEBbQVE3">challenges and debates</a> around ensuring validity, demonstrating utility, and ethical questions. Also, are models that predict traits like intelligence or neurodivergence <a href="https://www.newyorker.com/magazine/2021/09/13/can-progressives-be-convinced-that-genetics-matters" target="_blank" rel="noopener" data-saferedirecturl="https://www.google.com/url?q=https://www.newyorker.com/magazine/2021/09/13/can-progressives-be-convinced-that-genetics-matters&amp;source=gmail&amp;ust=1641313460594000&amp;usg=AOvVaw0TZiNtUsOxzKUYVlMWq8HN">appropriate</a>? And how do we address health disparities, given that most of the data underlying these models are from samples of European descent?
A common thread that ties this discussion to what we do at 23andMe is figuring out how to broaden access to the benefits of the genome in a responsible, science-driven way. I’ll follow closely where this conversation goes in the next year and beyond!”

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