By Alexa Reynoso, 23andMe Associate Scientist, Genetic Epidemiology
The use of electronic cigarettes, or vaping, is associated with several unhealthy behaviors and traits particularly among young people, according to new data from 23andMe.
But the data merely notes an association between vaping and those behaviors and traits, it’s not an indication of causation. Unlike the long-established research that links smoking to cancer, disability, and death, there remains a dearth of data on the health effects of vaping. Some recent studies have linked vaping to deleterious effects on the lungs. And last year a Stanford study found an association between<a href="https://www.jahonline.org/article/S1054-139X(20)30399-2/fulltext#secsectitle0050"> risk for COVID-19 and vaping</a> among young people.
<h2>Health Impacts</h2>
Scientists are still at the beginning of understanding the long-term health implications of e-cigarettes. At 23andMe we’ve only been collecting data on vaping for about a year. In the summer of 2020, our researchers added new questions to our smoking survey to account for vaping and e-cigarette use.
By looking at data we’ve gathered from the more than 76,000 customers who consented to participate in research and responded to our smoking survey, we were able to explore demographic and other characteristics of e-cigarette users. We were then able to compare people who vape to those who smoke just cigarettes, or who both smoke and vape (dual users), and those who don’t smoke or vape at all. (Note: This is not a representative sample of the entire 23andMe population, nor is it representative of national numbers. The CDC estimates that 4.5 percent of adults in the United States vape.¹ Among 23andMe research participants, only about .2 percent, or 19,000 individuals, reported being regular e-cigarette users. The sample for this research is composed only of respondents to our Smoking survey.)

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="683" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-1024x683.jpg" alt="" class="wp-image-29075" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/08/GettyImages-975633438-1180x787.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h2>What are E-Cigarettes?</h2>
Before we get into what the data showed, it’s worth understanding a bit more about how e-cigarettes work.
Introduced in 2004,² e-cigarettes were first touted as a less harmful way for smokers to kick their habit. Unlike with cigarettes, users of e-cigarettes are not inhaling smoke. They are inhaling a smoke-like aerosol, or vapor, produced when these devices heat a liquid that usually contains nicotine but also other potentially harmful substances.¹
While vaping may be helping some who are trying to kick their smoking habit, it may also be a gateway for others starting a nicotine addiction. This could be particularly relevant for young people. Juul Labs recently paid a $40 million settlement to the state of North Carolina for allegedly targeting youth in its marketing. According to a study on vaping trends published last year in the<a href="https://www.nejm.org/doi/full/10.1056/NEJMc1910739"> New England Journal of Medicine</a>, it was noted that an increase in vaping among young people between 2018 and 2019 was “the largest of any substance tracked” in the last four decades.
<h2>23andMe’s Data on Vaping Among Young People</h2>
In looking at our data, 23andMe researchers found that those between the ages of 18-30 were more likely to vape.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="385" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/Figure-1-E-cigs.png" alt="" class="wp-image-29097" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/Figure-1-E-cigs.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Figure-1-E-cigs-300x226.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 
Not only were young people more likely to vape, but these younger users of e-cigarettes were also more likely to use them at a higher frequency. Essentially, they take more “puffs” each day than older people in the study who vape. These findings are in accordance with those of the CDC.¹
Beyond being younger, individuals who are dual users — they smoke and vape — come from locations with a slightly lower median household income when compared to cigarette-only users, e-cigarette only users, and those that used none. Lastly, when comparing the four use groups in regards to years of education, research participants that do not smoke or vape tend to have obtained the highest amount of education.
Our researchers also stratified by sex and ethnicity but did not find strong differences as they did with age.
<h2>23andMe Insights</h2>
While we did not look specifically at health outcomes, we did look at various associations with unhealthy behavior and traits.
We found associations between vaping and such things as being more likely to be stressed, depressed, and anxious compared to those who do not vape. People who vape also were more likely to be diagnosed with bi-polar disorder. We saw associations between people who vape being more likely to report poor overall health, low life satisfaction as well as being less likely to exercise and eat right. People who vape in our data also were more likely to eat less fruit, drink more caffeine, need higher doses of pain medication, and are less likely to be a morning person. (More associations found with e-cigarette use within the 23andMe database are summarized in Figure 1. )

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="418" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cig-associations.png" alt="" class="wp-image-29096" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cig-associations.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cig-associations-300x245.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="564" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-1024x564.png" alt="" class="wp-image-29095" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-1024x564.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-300x165.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-768x423.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-880x485.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-1180x650.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-271x149.png 271w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-372x204.png 372w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-574x315.png 574w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs-980x539.png 980w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-1-E-Cigs.png 1274w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
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An environment-wide association study of cigarette smokers in our database was also conducted to determine if there are any fundamental differences between research participants that smoke e-cigarettes versus tobacco cigarettes.
<h2>Correlations</h2>
Our results indicated that the two groups are much more similar than they are different. Similar to the e-cigarette results, we saw that smokers were much more likely to experience depression and anxiety. Both cigarette and e-cigarette users also reported a lower general health score. Other interesting correlations (see Figure 2.) were that cigarette smokers tend to drink more alcohol  and tend to be more hot-headed.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="512" height="414" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cigs-associations-2.png" alt="" class="wp-image-29094" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cigs-associations-2.png 512w, https://blogcms.23andme.com/wp-content/uploads/2021/08/E-cigs-associations-2-300x243.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="395" src="https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-1024x395.png" alt="" class="wp-image-29093" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-1024x395.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-300x116.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-768x297.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-880x340.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs-1180x456.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/08/Table-2-E-cigs.png 1274w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
Although researchers uncovered correlations between smoking and certain demographic variables, it should be noted that correlation does not equal causation. Proving that certain behaviors or demographics cause another is quite difficult; meaning that we can’t say if someone isn&#8217;t a morning person they must be an e-cigarette user. In order to come to these conclusions, researchers must conduct years of extensive research consisting of numerous rigorous trials and studies.
That’s not to say what we uncovered so far is trivial, but rather we are on the right track. We are still just beginning to understand the long-term health implications of e-cigarettes. Over time, however, with the power of our large research cohort and scientific community, we could uncover more novel associations between e-cigarette use and long-term health effects.
23andMe customers who would like to contribute to our research efforts surrounding e-cigarette usage can take the survey <a href="https://you.23andme.com/research/surveys/tobacco/">here</a>. Not yet a customer? Find out more <a href="https://www.23andme.com/compare-dna-tests/?spt=spt">here</a>.
<hr />
<h2>References</h2>
<ol>
<li>“About Electronic Cigarettes (E-Cigarettes).” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 28 Apr. 2021, www.cdc.gov/tobacco/basic_information/e-cigarettes/about-e-cigarettes.html.</li>
<li>Cobb, Nathan K., et al. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978165/">“Novel Nicotine Delivery Systems and Public Health: The Rise of the ‘E-Cigarette.’</a>” American Journal of Public Health, vol. 100, no. 12, 2010, pp. 2340–2342., doi:10.2105/ajph.2010.199281.</li>
</ol>

23andMe Blog

23andMe Blog Team

23andMe Looks at Data on E-Cigarette Use

When Melissa Tarantino talks about facing challenges every day to her special needs students at a middle school near Sacramento, they listen. They all are aware that she knows what she&#8217;s talking about.
A former gymnast, Melissa learned at 19 that the pain and numbness in her hands was a symptom of scleroderma, a rare disease that she&#8217;d never heard of before. The diagnosis came after more than a year of being treated, including two surgeries for what doctors thought was carpal tunnel syndrome brought on by her years in gymnastics. It was a heavy diagnosis for someone who was just starting college.
When the doctor gave her the diagnosis, she asked:
&#8220;Will I ever be able to do a cartwheel again?&#8221;
<h6>Cartwheels and Research</h6>
That was eight years ago now. Melissa was able to do cartwheels again, but it hasn&#8217;t been easy.
She recently chatted with 23andMe about how she&#8217;s approached living with scleroderma, a progressively debilitating autoimmune disease that often results in tightening and hardening of the skin, muscle weakness, and pain. The condition affects an estimated <a href="https://worldsclerofound.org/what-is-ss/">2.5 million people</a> globally. Most of those with systemic sclerosis — about 80 percent — are women like Melissa between 16 and 45.
Although there are some treatments for this progressively debilitating autoimmune disease, there currently is no cure. But there is promising research like that being done by 23andMe.
Our conversation with Melissa is one in an occasional series on the blog about rare diseases like scleroderma. You can read some of the other posts about new insights into the <a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/">study of rare diseases</a>, living with another rare disease idiopathic pulmonary fibrosis, and a discussion with a community engagement director for the <a href="https://blog.23andme.com/23andme-research/scleroderma-research/">Scleroderma Research Foundation</a>. The posts detail studies into rare diseases, as well as two specific studies 23andMe is currently recruiting for — <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">idiopathic pulmonary fibrosis</a>, a chronic progressive lung disease, and <a href="https://www.23andme.com/systemic-sclerosis-study/">systemic sclerosis</a>, a form of scleroderma.
Melissa, who is participating in <a href="https://www.23andme.com/systemic-sclerosis-study/">23andMe&#8217;s Systemic Sclerosis Study</a>, said it&#8217;s important to contribute to the effort.
&#8220;Of course, I&#8217;m participating,&#8221; she said. &#8220;I just want to be able to help in whatever way I possibly can.&#8221;
Here&#8217;s more of what Melissa had to say.
<h6>Many people with a rare disease talk about how difficult it was to simply find the right diagnosis. Was that your experience?</h6>
The backstory is that I’d been a gymnast all my life, from like second grade to senior year of high school. I decided I wanted to stop and be a kid again, you know, go to the prom and not have to train 30 hours a week.
After I stopped, I started noticing pain and numbness in my hands. The doctors thought it was carpal tunnel from all that training, so I had surgery first on one hand and then the other.
My freshman year in college I still had pain, the knuckles in my hands were super swollen and I started to gain weight, then lose it, and I had this bloating in my face. The pain in my hands was really bad. At one point during a history final, it hurt so bad that I was crying. At that point, I went back to the doctor and they still thought the pain was from my time as a gymnast. The doctor told me to take acetaminophen. It was super frustrating.
<h6>What changed?</h6>
I knew something was wrong and my mom knew it too. We switched doctors and got blood work done. Even before the appointment my mom and I looked at the results from the lab work and then sort of self-diagnosed things. We looked up lupus and scleroderma while we sat on the couch. We weren’t 100 percent sure but we kind of pieced things together. We didn’t know anyone who had (scleroderma). We never heard of it before.
But we lucked out and got connected to a good rheumatologist with connections to Stanford who’d actually studied the disease. So, after the first diagnosis, I’ve had good care.
<h6>What were some of the hardest things for you during that time?</h6>
I was in college, and as I said, I wanted to live a college life. I wanted to live my life as a young person. So, at first, I didn’t take all the heavy medications that were prescribed. I let my doctor know. (Among the medication she waited to take was an immunosuppressant methotrexate. She waited to take it because of some of its side effects.)
Like I said I didn’t know anything about scleroderma until we’d Googled it, and everything we read online basically said you die right away. I didn’t have high hopes, but it turns out I won the scleroderma lottery. The kind of scleroderma I have isn’t affecting my internal organs now. Once I had my years in college, I started using the immunosuppressant methotrexate. Maybe I wouldn’t have lost some of the bone that I lost if I’d started taking it during college, but I’m glad I had that time in college to lead a somewhat normal student life.
<h6>What are some of the things you find that help you day-to-day?</h6>
Five years is a big marker for this condition, and I’m now seven or eight years in, and I’m at my healthiest. I now do powerlifting and being active really helps me feel better. You know before I started powerlifting I did tell myself I wanted to prove my doctor wrong.
So, while I was at Sacramento State I joined a gymnastics club and ended up competing in Nationals when they were in Sacramento. I proved that I could do cartwheels. I might have done them a little differently than I did before, but I did them. I did four events. Once I did that, I knew that having a physical outlet was important for me but I needed to shift to something else so that’s when I started powerlifting. 
Powerlifting really helps me release stress. I usually try and go at about 3:30 in the morning before I start my day. When I don’t work out my kids (who she teaches at a middle school in Sacramento) know it, and usually say something.
<h6>How has being involved with different groups such as the Scleroderma Research Foundation helped you?</h6>
Going to their fundraisers or conferences helped me meet more people with the disease who were actually my age. That’s been very helpful for my mental health. I don’t feel alone and I can talk to someone who I can ask about, you know, things like dating or how to deal with changes in your appearance. That kind of stuff has really helped.
<h6>Why are you participating in 23andMe’s Systemic Sclerosis Study?</h6>
Of course, I&#8217;m participating. I&#8217;ve actually tried to participate in other (scleroderma) studies but this is the first I qualified for.
I’m participating in the 23andMe study because I just want to be able to help in whatever way I possibly can. This disease isn&#8217;t going to just go away. I have it for life, so this is something I can do now in my lifetime to help others. It might not make a difference for me but it might for someone in the future.

Living with Scleroderma

A new study that identified genes linked to longer fertility in women comes as data show a sharp decline in birth rates during the pandemic, which accentuated a decades-long trend in women putting off having children until later in life.
<h6>Reproductive Aging</h6>
Published this week in the journal <a href="https://www.nature.com/articles/s41586-021-03779-7">Nature</a>, the study identified about 300 genetic variants that influence longer reproductive lifespan. Beyond simply identifying these genetic variants, the scientists were able to manipulate some of those genes in mice to successfully extend the reproductive lifespan. The findings offer some hope to those studying fertility in women.
“Improved understanding of the biological processes involved in reproductive aging could lead to improvements in fertility treatment options,” said Professor Eva Hoffman of the University of Copenhagen. Hoffman co-authored the new study.
<h6>New Insight for Women</h6>
The study gives a better understanding of the genetic influences for extending reproductive health. But it also also offers insights into identifying which women might reach <a href="https://www.nature.com/articles/d41586-021-01710-8">menopause earlier than other</a>s. This in turn could help those women decide on the timing of when or if to have children.
“We can start to predict which women might have an earlier menopause and therefore struggle to get pregnant naturally,&#8221; said Dr. Katherine Ruth, of the University of Exeter, and a study co-author. &#8220;And because we are born with our genetic variations, we could offer this advice to young women.”
<h6>More Delaying Having Children</h6>
Life expectancy has dramatically gone up over the last century or more. But the age at which women enter menopause — around 50 — has not changed. Women are born with all the eggs they will ever carry. These are gradually lost with age. Menopause occurs once most of a woman&#8217;s eggs are gone.  But fertility declines substantially before that time, making it much more difficult for some women to get pregnant. There are a number of factors playing into the delay in having children including financial and career considerations. According to<a href="https://www.cdc.gov/nchs/data/vsrr/vsrr012-508.pdf"> newly released data</a>, the COVID-19 pandemic resulted in the sharpest drop in childbirth in more than a century.
Many of the genes the study identified are associated with the process of DNA repair and are active before birth when human eggs are created and stored. These include the genes CHEK1 and CHEK2, which regulate a broad variety of DNA repair processes.
“We saw that two of the genes which produce proteins involved in repairing damaged DNA work in opposite ways with respect to reproduction in mice,” said Professor Ignasi Roig. Roig is another of the study&#8217;s co-authors and works at of the Autonomous University of Barcelona.
The researchers found that turning off the function of the gene CHEK2, while enhancing the expression of CHEK1, extended the reproductive lifespan of mice by about 25 percent. The study also looked at women who naturally lack an active CHEK2 gene. They found that these women reach menopause on average 3.5 years later than women with a normally active gene.
For this study, the researchers relied on a global collaboration involving more than 180 academic institutions. The study included data from hundreds of thousands of women. This included 300,000 female customers from 23andMe who consented to participate in research. The researchers also included data from the<a href="https://www.ukbiobank.ac.uk/"> UK Biobank</a> and several other study cohorts. While most of the de-identified and aggregated data was from women of European ancestry, the researchers also looked at data from women of East Asian ancestry.
<h6>Menopause</h6>
The team discovered that many of the genes involved are linked to processes of DNA repair. They also found that many of these genes are active from before birth, when human egg stores are created. But they are also active throughout life as well. Female mice with more of the CHEK1 protein are born with more eggs and they take longer to deplete naturally, so reproductive lifespan is extended. The second gene, CHEK2, has a similar effect. It allows eggs to survive longer, but in this case, the gene has been knocked out so that no protein is produced.”
The team also examined the health impacts of having an earlier or later menopause by using an approach that tests the effect of naturally occurring <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">genetic differences</a>. They found that genetically earlier menopause increases the risk of type 2 diabetes. It is also linked to poorer bone health and increased risk of fractures. However, it decreases the risk of some types of cancer. This is especially true of some cancers, such as ovarian and breast cancer, that are known to be sensitive to sex hormones. Those hormones are at higher levels in menstruating woman.

Researchers identify genes associated with longer reproductive lifespan in women

Systemic sclerosis, a form of scleroderma, is a rare disease that causes the hardening of the body’s connective tissue.
Gloria Blecha, the Director of Community Engagement at the <a href="https://srfcure.org/">Scleroderma Research Foundation</a> (SRF), explains that the autoimmune disorder is characterized by systemic inflammation which often presents with “puffy” hands although other areas of the body can be affected. Ultimately, the inflammation triggers a secondary process that is the production of collagen which is a core material of scar tissue. This secondary process, which is called fibrosis, is often uncoupled to the initial inflammation. In the most serious cases, fibrosis can result in irreversible damage to specific organs such as the heart, lungs, and/or digestive system. In other situations, there can be loss of function of the hands.
Scleroderma is best thought of as a single disease but in actuality can be complex and have a variable course such that some patients are affected early with aggressive changes while others have fewer symptoms and the disease progresses slowly. Treatment depends on the symptoms that are present and the organs that are affected and because scleroderma is a heterogeneous disease, meaning it presents differently in each patient, treatments that work for one patient may not be effective for another.
<img loading="lazy" decoding="async" class="aligncenter size-larger wp-image-29049" src="http://35.88.189.111/wp-content/uploads/2021/07/Gloria-headshot-587x880.jpg" alt="" width="587" height="880" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/07/Gloria-headshot-587x880.jpg 587w, https://blogcms.23andme.com/wp-content/uploads/2021/07/Gloria-headshot-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2021/07/Gloria-headshot-768x1151.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/07/Gloria-headshot-684x1024.jpg 684w, https://blogcms.23andme.com/wp-content/uploads/2021/07/Gloria-headshot-788x1180.jpg 788w, https://blogcms.23andme.com/wp-content/uploads/2021/07/Gloria-headshot.jpg 1367w" sizes="auto, (max-width: 587px) 100vw, 587px" />
Scleroderma affects an estimated <a href="https://worldsclerofound.org/what-is-ss/">2.5 million people</a> globally, and most of them — about 80 percent — are women of between 16 and 45. Although there are some treatments for this progressively debilitating autoimmune disease, there currently is no cure. But there is promising research, including work supported by the Scleroderma Research Foundation and 23andMe. 23andMe is currently recruiting for two rare disease studies, <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">idiopathic pulmonary fibrosis (IPF)</a>, a chronic progressive lung disease, and 23andMe launched the <a href="https://www.23andme.com/systemic-sclerosis-study/">Systemic Sclerosis Research Study</a> last year. The study on systemic sclerosis aims to gather new genetic insights that could lead to new treatments for the condition.
23andMe’s unique research model offers a different approach to <a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/">studying rare diseases</a>. By leveraging this approach, 23andMe hopes to help study systemic sclerosis at a scale that has not been possible in the past. That’s in part why 23andMe is currently working with the Scleroderma Research Foundation to help get the word out about our study. The foundation is a nonprofit that invests in scleroderma research conducted worldwide.
We sat down, virtually, with Gloria to talk a bit about the condition, the need for research, and the challenges of studying a rare disease like scleroderma.
<h6>In a way, the foundation’s origin story is sort of emblematic of rare diseases in general. Can you talk a bit about that?</h6>
Getting a diagnosis for any serious disease can be traumatic, but in rare diseases like scleroderma, there is this added issue of the unknown. For patients with a rare disease, there often isn’t a lot of information out there. The foundation was founded in 1987 by Sharon Monsky, three years after being diagnosed with scleroderma. She was shocked at how little was understood about the disease and the lack of efforts being made to find a cure. Using her business acumen and expertise, she took it upon herself to bring national attention to this disease and was soon privately funding research at two centers on the east and west coasts. Today we are the largest nonprofit supporting scleroderma research in the U.S. and Sharon’s collaborative approach and innovative spirit continue to drive the SRF’s mission to this day.  (Sharon <a href="https://www.nytimes.com/2002/05/17/us/sharon-monsky-48-leader-in-fight-against-rare-illness.html">passed away</a> in 2002.)
<h6>Last month, June, was Scleroderma Awareness Month, and the foundation spearheaded a social media campaign called ‘#SayScleroderma.’ What was the goal of that campaign?</h6>
Our primary goal is to fund research and find a cure for scleroderma and we additionally raise awareness and provide education for people living with this disease. We launched the #SaySCLERODERMA campaign because not enough people know what scleroderma is or does and this lack of awareness can delay diagnosis. 
All month long we shared stories of brave scleroderma warriors and their supporters. We created a toolkit using the hashtag #SaySCLERODERMA and challenged others to spread awareness by saying the word or posting videos explaining what this disease means to them on social media. Our goal is to bring a global spotlight on the word scleroderma and bring knowledge of the disease forward so that more people know what it is and what it does. 
<h6>What is encouraging that you are seeing in the way of research and treatments?</h6>
Although the search for more targeted disease-modifying therapy is ongoing, what is encouraging is that there are now treatments available for some of the symptoms of scleroderma. For example, people suffering from something called Raynaud’s phenomenon, which affects circulation to the fingers and toes, have calcium channel blockers and alpha-blockers that can help with symptoms. But as I mentioned earlier, the more awareness there is the more likely it is that people will be diagnosed early which can improve their response to treatment. 
<h6>Late last year 23andMe launched our Systemic Sclerosis Study. Why is the foundation helping 23andMe to encourage people with the condition to participate in this research?  </h6>
We share 23andMe’s commitment to advancing research and believe genetics could be vital to finding new insights into scleroderma. Supporting <a href="https://www.23andme.com/systemic-sclerosis-study/?utm_source=srf&amp;utm_medium=referral&amp;utm_campaign=systemic_sclerosis">this research study</a> and encouraging participation could help accelerate the pace of discovery and make a meaningful impact on finding new treatments and a cure. 23andMe is also unique in that it offers an easy way to participate in research. You don’t have to go to a specific center in a specific city. You can do it from your home and answer questions online, and patients really want to do that.

A Conversation with the Scleroderma Research Foundation’s Gloria Blecha

Earlier this summer, a consortium that included more than 3,000 researchers and scientists from around the world jointly published a summary analysis on genetic clues linked to both the susceptibility to COVID-19 and to the most severe cases of people who contracted the virus.&nbsp;&nbsp;&nbsp;
Published in the journal Nature,<a href="https://www.nature.com/articles/s41586-021-03767-x"> the paper notes</a> 13 genetic associations found in genes or gene regions involved in such things as immune response, blood type, and lung disease.
The findings help shed light on the biological pathways in not just how people become sick with the virus but why some people become severely ill from it. The hope is that these <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">genetic insights</a> will help researchers hunting for therapeutics for treating the virus.
“The better we get at treating COVID-19, the better equipped the medical community could be to manage the disease,” said<a href="https://www.broadinstitute.org/node/7003"> Ben Neale</a>, co-director of the<a href="https://www.broadinstitute.org/node/8507"> Program in Medical and Population Genetics</a> at the Broad and co-senior author of the study. “If we had a mechanism of treating infection and getting someone out of the hospital, that would radically alter our public health response.”
But almost as striking as the genetic findings are the level of collaboration among scientists that formed into this loose consortium known as the<a href="https://www.covid19hg.org/"> COVID-19 Host Genetics Initiative</a>. The initiative began in March of 2020 by scientists at the<a href="https://www.fimm.fi/en/"> Institute for Molecular Medicine Finland, University of Helsinki</a>, and the Broad Institute of MIT and Harvard, and quickly grew from there.&nbsp;
Among the researchers are those from both the private and public sector, from academic institutions and public companies — including scientists from 23andMe — who joined forces to pool what they’ve learned.
“This has exceeded anything I’ve seen in my lifetime,” said Janie Shelton, a 23andMe senior scientist, and epidemiologist. “The rate we’ve been able to collaborate with international teams to uncover the genetic vulnerability to COVID-19 has been incredible.”
Over the last year, several participants in the initiative have already published their findings that ultimately became part of this broader paper. For instance, 23andMe published last June on our findings around genetic associations between the genes that <a href="https://blog.23andme.com/23andme-research/blood-type-and-covid-19/">influence blood type</a> and a person’s susceptibility to COVID-19 and the severity of their symptoms. This year, we published on genetic associations with COVID-19 and<a href="https://blog.23andme.com/23andme-research/scientists-find-genetic-link-to-loss-of-smell-among-covid-19-patients/"> loss of smell and taste</a>, as well as created a tool to help people better understand<a href="https://blog.23andme.com/health-traits/covid-19-severity-calculator/"> the non-genetic factors</a> that contribute to a higher risk for hospitalization due to the virus.
Since launching our<a href="https://you.23andme.com/covid19-study/"> COVID-19 Research Study</a> soon after the pandemic began, we have been sharing our findings with the broader scientific and medical community to help address this health crisis.
As Janie said in an interview earlier this year:
“It’s important for us to unveil our findings as publicly as possible.”
The researchers now plan to focus their attention on so-called “long-haulers,” people who have had the virus who continue to have symptoms for months.
You can read more about the paper<a href="https://www.nature.com/articles/s41586-021-03767-x"> here</a>.
&nbsp;

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

Scientists Cooperate to Map the Human Genetics of COVID-19

Recently we chatted with Bill Vick, founder of <a href="https://pfwarriors.com/">PF Warriors</a>, a non-profit group for people living with pulmonary fibrosis, including idiopathic pulmonary fibrosis (IPF).
<h2>A Rare Disease</h2>
Being diagnosed with IPF, as with many other rare diseases, can feel both overwhelming and bewildering. For many, the first time they&#8217;ve heard about the condition is when they get a diagnosis. IPF results in irreparable scarring of the lungs, which progressively worsens lung function. It&#8217;s terminal, and there is no cure. But there is some promising research underway, and last year, <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">23andMe</a> launched a genetic study of <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">idiopathic pulmonary fibrosis</a>. We connected with Bill and PF Warriors through that work.
Bill&#8217;s journey might explain the use of the word &#8220;warrior&#8221; in naming the group. Before a career as a serial entrepreneur — heading up large sales divisions, launching computer software companies, and creating his own executive recruiting firm — Bill was a Force Recon Marine. After he retired from business, he became a competitive masters division athlete and brought that same kind of intensity first tapped into as a Marine and then cultivated working in the corporate world. To prepare for competition he included daily runs, swims, weight lifting, or workouts in the gym. It was while training for a competition that he noticed his swim times dropping. He also noticed that he sometimes had difficulty catching his breath.
It took a while to get a diagnosis, and when he did, it was jarring. He had never heard of Idiopathic Pulmonary Fibrosis before, and he didn&#8217;t know how he got it. (Idiopathic means no known cause.) And he was told there was no treatment. So after coming home from the doctor that day, he and his wife Patti decided that he should get his affairs in order, and then the two of them could knock off their &#8220;bucket list&#8221; of things to do while Bill still could. So they celebrated their 50th wedding anniversary. Bill was 72 at the time. He thought he only had two or three years to live.
But that was ten years ago.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-28929" src="http://35.88.189.111/wp-content/uploads/2021/06/Bill_Vick_Running.jpg" alt="" width="800" height="600" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/Bill_Vick_Running.jpg 800w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Bill_Vick_Running-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/Bill_Vick_Running-768x576.jpg 768w" sizes="auto, (max-width: 800px) 100vw, 800px" />
<h2>What are some of the common themes you&#8217;ve heard from people about first getting diagnosed?</h2>
I, like many, was diagnosed by chance as I had a cough, weight loss, and shortness of breath that my family doctor could not explain. And you know, if I hadn&#8217;t been training so hard and been so in tune with minor changes in my body, I might not have noticed.
I was 72, but I was an active triathlete, and I&#8217;d been a competitive jock all my life. I was training for a short course race here in Texas and started noticing my swim times dropping. So I went to my doctor, and he thought it might be athletic asthma or bronchitis or COPD, and gave me an inhaler, and then a nebulizer. But that didn&#8217;t help much. I think that went on for about a year before I went to a pulmonologist. They did a high-resolution CT scan and a biopsy.
When the results were in, they called and told me to come in and bring my wife, Patti. So we were ushered into a small waiting room, and the doctor comes in and says:
“You&#8217;ve got a rare disease, IPF. It&#8217;s a lung disease with no cure and nothing to stop it. You should go home and get your affairs in order.&#8221;
<h2>Why are so few people, including doctors, aware of IPF? </h2>
Well, it&#8217;s a rare disease. I think my doctor had seen maybe one or two other people with it in his whole career. So when I got my diagnosis, there just weren&#8217;t many resources out there to find out more. And that&#8217;s one of the reasons we started PF Warriors. As I talk to other patients and groups, the same kinds of questions come up. That&#8217;s why it helps to hear from others who are going through the same thing. We now have 2,400 members worldwide and are located in 19 countries.
It took me a couple of years, but I got to this point that I wasn&#8217;t saying that I&#8217;m dying from this disease, but that I&#8217;m living with it.
<h2>Typically, the survival rate after diagnosis is two to three years. You got your diagnosis a decade ago. How have you been able to do so well for so long?</h2>
My advantage was that I was a competitive athlete attuned to my body. So not only was I in great shape but I got diagnosed perhaps earlier because I very quickly noticed the changes in my body.
But we don&#8217;t really know a lot about this disease. There&#8217;s still a lot of ignorance out there, and that&#8217;s why we need more research. I&#8217;ve also benefited by being one of the first people prescribed Esbriet® (pirfenidone). I started taking that when I was 75, and it can help slow the scarring of your lungs or progression of pulmonary fibrosis.
A few years ago I talked to a woman who was a fellow IPF patient named Peggy and I asked her about how long I had to live. She said something about hearing the diagnosis of dying in two or three years and she smiled and said:
&#8220;When you can find the expiration date that God tattooed on your bottom, believe it, but until you do, take each day as it comes and live it fully.&#8221;
<div id="attachment_28931" style="width: 890px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28931" class="size-larger wp-image-28931" src="http://35.88.189.111/wp-content/uploads/2021/06/onemoretime-880x668.jpg" alt="" width="880" height="668" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/onemoretime-880x668.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/06/onemoretime-300x228.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/06/onemoretime-768x583.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/06/onemoretime.jpg 949w" sizes="auto, (max-width: 880px) 100vw, 880px" />Bill Vic</div>
<h2>What do you think is the biggest value of having an organization like PF Warriors? </h2>
It&#8217;s meeting people like Peggy in Florida with something to say, but it&#8217;s also crowdsourcing information with others, having a place where you can go for information or questions or support. You know, if you have a doctor who you talk to, that&#8217;s a certain channel for information but talking to someone like you who has it, it&#8217;s a different kind of conversation.
<h2>Recently you invited 23andMe&#8217;s John Matthews to speak to your group. He is the Senior Clinical Development Leader for Therapeutics at 23andMe. He is also a physician who trained in pulmonary medicine. Why did you ask him to speak, and what did he share with you? </h2>
John discussed 23andMe&#8217;s work in drug discovery and 23andMe&#8217;s ongoing effort to recruit 1,000 people for a <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">genetic study on IPF</a>. As a result, we&#8217;ve had other researchers and leading scientists in the field to talk. It&#8217;s a way for us to stay informed and keep ahead of the curve. John walked through the role genetics plays in disease and how 23andMe uses genetic information and other information to find potential drug targets. He also answered a lot of questions from our members who participated in the discussion.
<h2>What are your thoughts about the potential for finding new treatments?</h2>
I think studies like this, using genetics, are critical. But it isn&#8217;t easy to get enough people (with IPF) to participate. This is a similar problem with clinical trials, simply finding people willing to participate, but you need people if you want to see significant breakthroughs. I&#8217;m hoping we can help 23andMe with that. I&#8217;m optimistic that we will find a cure and treatment, maybe I won&#8217;t be around to see it, but I want to do whatever I can to help.
[/vc_column_text][/vc_column][/vc_row]

Living with Idiopathic Pulmonary Fibrosis

Researchers at 23andMe described what is believed to be the largest genomic study of rare diseases ever done in a groundbreaking <a href="https://www.medrxiv.org/content/10.1101/2021.06.09.21258643v1">new paper</a>. The study, published in the pre-print server MedRxiv, offers up a potential alternative method for gaining insight into these challenging-to-study conditions.
Using data from more than 1.6 million research participants, including 19,000 who reported a rare disease diagnosis, 23andMe scientists were able to study 33 different rare diseases that included people of European, African, Latino, East Asian, South Asian, Middle Eastern, and other ancestries. 
<h6>Some Firsts</h6>
The researchers were then able to run genome-wide association studies (GWAS) for each of these different rare diseases. They replicated 29 previously identified associations across different rare diseases. For three of these rare conditions — <a href="https://rarediseases.org/rare-diseases/duane-syndrome/">Duane retraction syndrome</a>, <a href="https://rarediseases.org/rare-diseases/acoustic-neuroma/">vestibular schwannoma</a>, and <a href="https://rarediseases.org/gard-rare-disease/primary-spontaneous-pneumothorax/">spontaneous pneumothorax</a> — the 23andMe study is the first GWAS ever done. The study identified new genetic associations for each. 
The conventional method for studying rare diseases entails sequencing patients with the condition or their family members. Then to use that data to focus on potentially causal genes, but the challenge is to first simply finding enough patients for a study and then paying for the much higher cost of sequencing them. 
<h6>A New Way </h6>
23andMe’s model is different in that the scale of the data allows researchers to quickly find sufficient numbers of cases, and those individuals, who have consented to participate in research, are already genotyped.
“This is exciting because it offers a viable alternative for studying rare diseases,” said Suyash Shringarpure, Ph.D., a 23andMe senior scientist, and statistical geneticist, who worked on the study. “This approach will enable us to discover new genetic associations across multiple populations much faster than could be done otherwise. And it’s complementary to a sequencing-based approach.”
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="745" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-745x1024.jpg" alt="" class="wp-image-28941" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-745x1024.jpg 745w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-218x300.jpg 218w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-768x1056.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-640x880.jpg 640w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-858x1180.jpg 858w, https://blogcms.23andme.com/wp-content/uploads/2021/06/©PITER2017Suyash-Shringarpure2649-scaled.jpg 1862w" sizes="auto, (max-width: 745px) 100vw, 745px" /></figure>
 
It can often feel like being lost in the wilderness for patients living with a rare disease and their families. With so little information about the conditions, simply receiving a diagnosis can often take years. And once diagnosed, treatment options are often limited or even non-existent.
For the scientists trying to help, it can often feel like being asked to lead those patients out of the wilderness without a map.
<h6>Studying IPF and Systemic Sclerosis </h6>
The challenge of studying <a href="https://rarediseases.info.nih.gov/">rare diseases</a> is that they are rare. Simply finding enough people with a specific rare disease and then gathering enough data from those individuals to make meaningful insights is extremely difficult. In addition, there is the challenge of finding the money to pay for these studies. Rare diseases are defined as diseases that affect fewer than 200,000 people in the U.S. But there are more than 7,000 rare diseases that have been identified. Collectively they impact an estimated <a href="https://rarediseases.info.nih.gov/about-ordr/pages/31/frequently-asked-questions">25-30 million people </a>in the United States alone. 
23andMe is currently recruiting to study two rare diseases <a href="https://www.23andme.com/systemic-sclerosis-study/">systemic sclerosis</a>, a form of scleroderma, and <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">idiopathic pulmonary fibrosis (IPF)</a>, a chronic progressive lung disease. There are no cures for either condition, but the hope is that by gathering enough participants our scientists will be able to gather insights that could lead to new and effective treatments. 
<h6>Surprising Insights</h6>
Beyond working specifically on these two conditions, 23andMe’s unique research model allows scientists to more easily and quickly assemble data to study. This most recent paper illustrated how even looking broadly across all research participants, scientists were able to find enough individuals with certain rare conditions to garner insights. In some cases, these insights surprised researchers. 
For example, many rare diseases are Mendelian diseases, meaning that they are usually inherited and are typically caused by a mutation in a single gene. From this study, the researchers found that <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">common genetic variants</a> may also play a role in some of these conditions. Given the variety in the genetic architecture of rare diseases, it surprised the scientists working on this study that they found associations in rare causal genes by conducting genome-wide associations studies on 23andMe’s data. Typically genome-wide association studies are used to study common diseases — those that are affected not just by many different genes often with small impacts. These conditions are also influenced by environmental factors as well as gene-by-gene or gene-by-environment interactions. So it surprised researchers that they were able to look at a dataset of unrelated individuals — albeit a very large one — and find genetic associations. But they were able to do that for conditions such as Huntington’s disease and phenylketonuria, for example.
“The ability of a genome-wide association study to find associations at rare causal genes for monogenic diseases in an outbred population is to some extent unexpected,” Suyash said.

New Insights into the Use of Genetics to Study Rare Disease

Researchers at Kaiser Permanente identified dozens of new genetic associations for increased risk of age-related cataracts, one of the leading causes of blindness worldwide.
The study, published in the journal <a href="https://www.nature.com/articles/s41467-021-23873-8?utm_source=feedburner&#038;utm_medium=feed&#038;utm_campaign=Feed%3A+ncomms%2Frss%2Fcurrent+%28Nature+Communications+-+current%29">Nature Communications,</a> also identified genetic associations that are specific to the risk of cataracts for women. The condition is more common among women and this specific association may help explain why.
<h6>Large Study</h6>
The large size of the study, which included data from more than 3.5 million individuals, helped researchers identify many more genetic associations than previously known. This study identified more than 54 genetic associations in dozens of genes, including some that are involved in the development of the lens within our eyes.
While genetics explains some of the risks for developing cataracts, environment, and lifestyle can also play a role. Smoking, eye injuries, and certain medications, for instance, all can increase the risk of developing cataracts. Cataracts tend to develop as we age. Some estimates are that<a href="https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/cataracts"> more than half of those over 80</a> have cataracts or have had surgery to remove them.  Cataracts are characterized by a clouding of the lens that can cause blurry vision, a loss of the vividness of color, or the ability to see at night. In more serious cases, cataracts can lead to blindness.
<h6>Deeper Understanding</h6>
By understanding the associated genes, it can also help identify those at higher risk for the condition. This could allow for earlier treatment, said the author of the paper Hélène Choquet, Ph.D., a research scientist at the Kaiser Permanente Division of Research. 
“This is the first step, and we can use this information along with other factors to build predictive models to identify people more likely to develop cataracts,” Choquet said. “If we can screen people before they develop a disease that would help them and their doctors to quickly identify when a cataract is forming.” 
Thought to be the largest genetic study of cataracts ever the research included data from more than half a million people drawn from Kaiser Permanente, the UK Biobank, which included about 67,000 with cataracts. The researchers then replicated their findings by using data from more than 3 million, including more than 340,000 with cataracts, from 23andMe who consented to participate in research.
<h6>Better Representation</h6>
The large study also included data from people of non-European ancestry, which are underrepresented in genetic research. In this case, 37 of the new genetic associations cut across different ancestries. In addition two of the associations were found in just women.
The data came from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. This cohort includes a group of more than 100,000 Kaiser Permanente Northern California members who volunteered their genetic and medical information for research. GERA is part of the Kaiser Permanente Research Program on Genes, Environment, and Health, which is itself part of the Kaiser Permanente Research Bank. Researchers also used data from the UK Biobank. The UK Biobank contains <a href="https://www.23andme.com/dna-health-ancestry" target="_blank" rel="noopener">genetic and health information</a> from about a half-million residents of the United Kingdom. The replication study used data from more than 3 million 23andMe customers who consented to participate in research.
The researchers also looked at the genes identified through this study and analyzed their function in a database with information on how these same genes express themselves in mice. That analysis confirmed that many of the genetic associations identified in the study were also seen in data on gene expression in mouse eye lens tissue.
“If the gene is expressed in the tissue that means it could have a direct relationship to the development of a cataract, which is caused by crystallization of the lens,” Choquet said.
Funding for the study came from several sources including the National Institutes of Health and in particular the National Eye Institute. 
&nbsp;

New Research Offers Insights into Cataracts

By Jey McCreight, PhD, Science Communication Sr. Program Manager
Pride month is a chance to celebrate the LGBTQ+ community, which is important here at 23andMe where part of our job is understanding and celebrating human diversity. But we should not forget that Pride started as a protest for LGBTQ+ rights, and despite the progress we have made, there is still work ahead.
The last year during this pandemic has been a stressful time for all of us, but even more so for transgender people, especially during the last six months as cultural conversations have shifted to put trans rights at risk. In fact, 2021 has already become the worst year in recent history for <a href="https://www.hrc.org/press-releases/2021-officially-becomes-worst-year-in-recent-history-for-lgbtq-state-legislative-attacks-as-unprecedented-number-of-states-enact-record-shattering-number-of-anti-lgbtq-measures-into-law">anti-LGBTQ legislation in the US</a>. There have been more than 250 anti-LGBTQ bills introduced in state legislatures, and seventeen of those have already been enacted into law. These bills disproportionately target transgender people, especially youth. This year is also <a href="https://www.hrc.org/resources/fatal-violence-against-the-transgender-and-gender-non-conforming-community-in-2021">on track to become the most violent, fatal year</a> for the trans and gender non-conforming community.
Why are we bringing this up? Because these attacks and this legislation have real implications for the health and wellbeing for trans people. For us here at 23andMe, where science is at our core, it’s particularly painful to see some of these legislative efforts pushed under the rallying cry of “trust the science.” As a health company, we feel compelled to speak up about what the science actually says.
People who fear or distrust trans people often use “biology” as a justification for attacking this community. But the reality is that the biology of sex and gender is more complicated than a simple binary. The science shows us that sex itself is <a href="https://blog.23andme.com/23andme-research/how-was-your-sex-determined-it-might-be-a-lot-more-complicated-than-you-think/">not binary, but rather bimoda</a>l, with a range of diversity between the categories of male or female. Scientific research also <a href="https://blog.23andme.com/23andme-and-you/genetics-101/celebrating-pride-month-a-spotlight-on-sex-and-gender/">supports the existence of trans and non-binary gender identities</a> as a natural part of human diversity that have existed throughout history. 
But it is not enough to simply say “trans people exist.” Science also shows that trans people who are accepted and affirmed have better health outcomes and quality of life. 

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="614" src="https://blogcms.23andme.com/wp-content/uploads/2021/05/lgbtq-1024x614.png" alt="" class="wp-image-28914" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/05/lgbtq-1024x614.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/05/lgbtq-300x180.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/05/lgbtq-768x461.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/05/lgbtq-880x528.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/05/lgbtq-1180x708.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/05/lgbtq.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6>Supporting Social Transition</h6>
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
Terms
Non-binary is an umbrella term to describe gender identities that cannot be described as entirely “male” or “female” (e.g. agender, androgyne, genderfluid, genderqueer, and more.)
Some non-binary people consider themselves to be transgender, while others do not.
</div>
The most well-established treatment protocol for gender dysphoria is social transition, which involves adopting a new name, using different pronouns, changing hair and clothing, and using public spaces associated with one’s gender identity. For trans youth in particular, studies have shown that <a href="https://pediatrics.aappublications.org/content/134/4/696?ijkey=61ee57685e1e08e366a9f122ecec4242d0864f87&#038;keytype2=tf_ipsecsha">having supportive family members</a> is associated with better mental and physical health. Trans adolescents who receive gender affirmation <a href="https://pubmed.ncbi.nlm.nih.gov/21587245/">have better academic success, relationship building, and future-orientated planning.</a> Simply <a href="https://news.utexas.edu/2018/03/30/name-use-matters-for-transgender-youths-mental-health/">using a trans youth’s chosen name</a> and <a href="https://www.thetrevorproject.org/2020/07/29/research-brief-pronouns-usage-among-lgbtq-youth/">respecting their pronouns</a> significantly reduces their risk of depression and suicide.
Social transition also includes allowing trans individuals to play on sports teams that match their gender identity. Despite the wave of legislation attempting to ban trans youth from participating in sports, <a href="https://www.scientificamerican.com/article/trans-girls-belong-on-girls-sports-teams/">there is no scientific evidence</a> that trans girls have inherent advantages over cis girls in sports that justify blanket bans.
<h6>Bathroom Access</h6>
<a href="https://www.ama-assn.org/delivering-care/population-care/advocating-lgbtq-community">Medical experts</a> also support allowing trans people to use bathrooms and other single-sex spaces that are in accordance with one’s gender identity. Laws that seek to force trans individuals to use a restroom that does not correspond with their gender identity increases the risk for trans people to experience harassment and violent assault. <a href="https://static1.squarespace.com/static/54f76238e4b03766696d8f4c/t/5782a8d9197aeaa57b589608/1468180715744/USTS-Preliminary-Findings-July-2016-2.pdf">Trans people often avoid public restrooms</a> because of fear of confrontation or worse, which can lead to higher rates of dehydration, kidney issues, and urinary tract infections.
<h6>Gender-affirming health care</h6>
<a href="https://www.ama-assn.org/delivering-care/population-care/advocating-lgbtq-community">The American Medical Association</a> supports gender-affirming health care, such as hormones and surgery, as receiving such care has been shown to dramatically reduce rates of suicide attempts, depression and anxiety, and substance abuse. Studies by the <a href="https://pediatrics.aappublications.org/content/145/2/e20191725">American Academy of Pediatrics</a>, Cornell University, and other institutions have found that pubertal suppression treatment for trans youth was associated with lower odds of suicidal thoughts. Despite <a href="https://jamanetwork.com/journals/jama/fullarticle/2780517">most mainstream medical associations opposing legislation</a> that limits gender affirming medical care for trans youth, this health care <a href="https://www.nbcnews.com/feature/nbc-out/arkansas-passes-bill-ban-gender-affirming-care-trans-youth-n1262412">has already been banned in the state of Arkansas</a>.
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Medical Opinion
The following medical associations oppose legislation that limits gender-affirming medical care for trans youth:
• American Medical Association
• American College of Physicians
• American Academy of Family Physicians
• American College of Obstetricians and Gynecologists
• American Osteopathic Association
• American Psychiatric Association
• American Academy of Pediatrics
• American Academy of Child and Adolescent Psychiatry
• The Endocrine Society
• The Pediatric Endocrine Society
• World Professional Association for Transgender Health
• US Professional Association for Trangender Health.
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<h6>Mental health</h6>
To be clear, there is no evidence that increased risk for mental illness among trans people is due to being transgender. The American Psychological Association and American Psychiatric Association have both firmly stated that <a href="https://pediatrics.aappublications.org/content/142/4/e20182162">this increased risk stems from stigma, social rejection, discrimination, and limited availability of gender-affirming health care services.</a>
<h6>What 23andMe is Doing in Product</h6>
To put it succinctly, there is no debate among the medical and scientific communities when it comes to accepting and affirming the gender identities of trans people.
This is why we have spent the last year working to improve our product experience for trans and non-binary customers. This has included research on best practices recommended by LGBTQ organizations, conducting focus groups with trans customers, and consulting trans employees. When these improvements go live later this year, customers will be able to input both their sex assigned at birth and their gender during kit registration and will be able to select the relationship labels (e.g. father, uncle, brother) that best reflect their gender identity, including gender-neutral options. The option to use gender-neutral pronouns is also available to cisgender customers who may want their gender anonymous for privacy reasons. 
This is only the first step in an overall commitment to improving our offerings for trans customers. As more research becomes available, for example on how hormone replacement therapy may affect risk estimates, we hope to keep improving our reports so they are more relevant for trans customers.
<h6>A Personal Conclusion</h6>
It’s easy to read a blog post on a company site and think it’s some detached statement. But I myself am a non-binary trans person. I’m hesitant to say this because I worry that some readers will no longer trust the scientific content of this post, despite my Ph.D. or my role leading 23andMe’s Science Communication program.
That fear of turning most of society against me is why I, like so many other trans people, stayed in the closet for so long. I was terrified that coming out would ruin my career, lose my family and friends, and put me at risk of violence. That fear directly came from the media I watched growing up, which cast trans people as monsters to be feared, pitied, or ridiculed. 
But a cultural shift is clearly happening. I finally found resources and language to describe how I’ve always felt, and to realize there were other people out there like me. I met trans people in real life and saw more role models in the media that showed me that, frankly, there is nothing wrong with being trans. 
I feel lucky to work at a place where I felt comfortable enough to publicly transition without losing my job or the respect of my colleagues. Being able to have that job security, which most trans people do not, enabled me to finally be myself completely openly, including to my closest family and friends. 
Do coworkers and family still occasionally mess up my pronouns? Yes. But overall I’ve been privileged by how supportive everyone has been. I can tell they’re making an effort to do better and to learn why affirming my gender matters so much to me because they care about my health and happiness. That willingness to learn sets them apart from transphobes who refuse to listen to scientists, doctors, and most importantly, trans people themselves.
But not every trans person is as privileged as I am. Many think trans people only care about pronouns, but from legislative attacks to literal violent attacks, it is a dangerous time to be trans. Trans people of color in particular are disproportionately affected by violence, discrimination, and lack of health care. Trans youth are already having life-saving gender-affirming health care made illegal, despite medical consensus supporting that care. I wish I would have had the support and science to not go through the wrong puberty, and it breaks my heart to watch kids have that taken away.
The least I can do from my position of privilege is to speak up. Regardless of what science says, everyone should still treat trans people with respect because it’s just the right thing to do. But if you want to claim you “trust the science” in order to attack trans people, then sorry &#8211; the science says that trans rights are human rights.

Research — Page 15