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

23andMe Blog

23andMe Blog Team

What is Polycystic Ovary Syndrome and How Do I Know if I Have It? 

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

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

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

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

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

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

A new study by researchers at the Harvard T.H. Chan School of Public Health confirms<a href="https://blog.23andme.com/23andme-research/anxiety-depression-long-covid/"> findings from 23andMe</a> that depression and anxiety dramatically increase the likelihood of experiencing long COVID.
Published online in JAMA Psychiatry earlier this month, the<a href="https://jamanetwork.com/journals/jamapsychiatry/fullarticle/2796097"> study</a> found that psychological distress in the form of depression, anxiety, stress, and loneliness were more predictive than many physical risk factors like obesity, asthma, and hypertension, said Siwen Wang, the researcher in the Department of Nutrition at Harvard T.H. Chan School who led the study.
“We were surprised by how strongly psychological distress before a COVID-19 infection was associated with an increased risk of long COVID,”<a href="https://www.hsph.harvard.edu/news/press-releases/psychological-distress-before-covid-19-infection-increases-risk-of-long-covid/"> Siwen said.</a>
<h2>Psychological Stress Increases Risk of COVID</h2>
The team’s findings showed that psychological stress contributed to a one-and-a-half-fold increase in the risk for long COVID. 23andMe’s results showed a two-fold increase. But the differences in the two studies may be explained by how the studies defined long COVID. 23andMe looked at data from individuals with a formal diagnosis of long COVID. The Harvard study didn&#8217;t just look those with a diagnosis but with COVID symptoms lasting four weeks or longer. But when applying similar criteria to the 23andMe data, our researchers also saw a one-and-a-half-fold increased risk of developing long COVID.
The Harvard study examined data from 54,000 individuals over a 19-month  period. About 3,200 of participants in the study contracted COVID. The 23andMe study included data from more than 100,000 individuals who reported contracting COVID-19. Of those, more than 26,000 reported that they had experienced long COVID. Over 7,000 of participants said they’d been diagnosed with it. Even after a year, more than 10 percent of those in 23andMe’s study  continued to have symptoms like brain fog, fatigue, and shortness of breath. It’s important to note that long COVID refers to individuals with symptoms that linger weeks, months, or longer after a COVID-19 infection.
<h2>23andMe Long COVID Findings</h2>
Data from 23andMe’s as-yet unpublished study<a href="https://blog.23andme.com/23andme-research/anxiety-depression-long-covid/"> first appeared on our blog. </a>It is part of<a href="https://blog.23andme.com/tag/covid-19/"> a series of studies</a> being conducted by 23andMe scientists 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. Our researchers have also drawn new 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. Earlier this year, 23andMe published a study in<a href="https://www.nature.com/articles/s41588-021-00986-w"> Nature Genetics</a> that identified genetic variants associated with the loss of smell or taste due to COVID-19. That paper offers more detail on the study, which identified variants near two olfactory genes — UGT2A1 and UGT2A2.
The Harvard study and the preliminary 23andMe data offer more insight into the perplexing nature of long COVID. But the studies also offer another illustration of the broader health impacts of these kinds of psychological stressors.   
Find the full Harvard study<a href="https://jamanetwork.com/journals/jamapsychiatry/fullarticle/2796097"> here</a>.

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

More on Psychological Distress and Risk for Long COVID

This week, we released a new 23andMe+ Wellness report on seasonal allergies that is powered by 23andMe Research. 
While the sniffling, sneezing and itchy eyes that come with seasonal allergies are often triggered by pollen from blooming trees and flowers in spring and summer, many of those with seasonal allergies also have symptoms in the fall when levels of allergens from weeds and mold are at their highest.
<h6><img loading="lazy" decoding="async" class="aligncenter size-large wp-image-26180" src="http://35.88.189.111/wp-content/uploads/2018/05/Sneeze-1024x678.jpg" alt="Boy blowing his nose in a field of flowers." width="1024" height="678" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/05/Sneeze-1024x678.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Sneeze-300x198.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Sneeze-768x508.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Sneeze-880x582.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Sneeze-1180x781.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2018/05/Sneeze.jpg 1259w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />A Common Condition</h6>
Seasonal allergies, also known as hay fever or allergic rhinitis, are relatively common. It is estimated that around <a href="https://pubmed.ncbi.nlm.nih.gov/24522093/">27 percent of people in the U.S.</a> are allergic to grasses, trees, and weeds. Still, the actual percentage of people who develop symptoms of seasonal allergies is less clear. Many who might experience seasonal allergies are not exposed to pollens or allergens that would trigger a reaction, so remain unaware. The condition tends to hit women harder than men. A little over ten percent of males have seasonal allergies. More than 17 percent of women report having the condition, according to 23andMe internal data from customers who consented to participate in research. 
The US states with the least prevalence of seasonal allergies among 23andMe customers who consented to participate in research are Hawaii, New York, California, and Florida. Customers in Oklahoma, New Mexico, and Kentucky, were the most likely to report seasonal allergies.
<a href="https://www.pnas.org/content/118/7/e2013284118">A recent study</a> indicated that climate change might worsen the situation for some due to the lengthening of the pollen season in North America. 
Beyond the common symptoms of stuffy noses and itchy eyes, seasonal allergies and their associated symptoms can also lead to other issues such as difficulty sleeping or difficulty concentrating during the day. In addition, individuals with seasonal allergies are more likely to develop asthma or experience difficulty breathing or wheezing.
<h6>A New Report</h6>
Our new report is powered by data from people who have consented to participate in 23andMe research and uses machine learning techniques to estimate an individual’s likelihood of having seasonal allergies to trees, grasses, weeds, and or molds.
This estimate is made using a statistical model that includes more than 6,500 genetic markers and information on an individual’s ethnicity and birth sex. You can learn more about the science and methodology behind our new report in this<a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodologyAppendix_2022.pdf"> white paper.</a> 
<h6>Understanding Seasonal Allergies</h6>
While we know that mold or pollen wafting through the air from budding trees, grasses, and weeds triggers allergic reactions, scientists are still digging deeper to better understand why.
Allergic reactions happen when a hypersensitive immune system mistakes a normally harmless substance for a harmful one. When the immune system detects these so-called allergens, it triggers an immune response meant to protect the body.
Research indicates that<a href="https://pubmed.ncbi.nlm.nih.gov/16083793/"> about half</a> of those living in the U.S. are sensitive to at least one common allergen. That might include pollen, which is seasonal, but also other allergens such as pet dander, dust, and insect bites. While most allergic reactions are mild, some contribute to asthma or eczema and can be very serious and even life-threatening. 
Susceptibility to allergies is in part genetic. One&#8217;s environment also plays an important role in developing allergies. 23andMe scientists and collaborators have identified many genetic variants associated with allergies. We also published studies on the genetic<a href="https://www.nature.com/articles/s41588-018-0157-1"> pathways for allergic rhinitis. </a> Our scientists have also looked into the genetic associations between<a href="https://www.nature.com/articles/ng.3985"> allergies, eczema, and asthma</a>, and the age of<a href="https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008725"> onset</a>. That work allows us to understand the underlying causes better and offers researchers potential new targets for treatments. 
<h6>Managing and Treating Seasonal Allergies</h6>
Limiting exposure to allergens — wearing masks while working outside or staying indoors when the pollen count is highest — could reduce the chance of triggering allergy symptoms. In addition, there are also many over-the-counter and prescription treatments for allergies. 
Antihistamines or nasal sprays can treat symptoms, and nasal irrigation to wash out allergens can help alleviate symptoms. Those treatments combined with lifestyle changes to limit exposure also help. Beyond using air filters and staying indoors when pollen is highest, more frequent cleaning of household surfaces, clothing, and sheets can also help.
<h6>Learn More</h6>
23andMe’s new Seasonal Allergies report (powered by 23andMe Research) is available to 23andMe+ members. To view your report, go<a href="https://you.23andme.com/reports/prs.seasonal_allergies/"> here</a>.
Not a customer?
Find out more<a href="https://www.23andme.com/membership/"> here.</a>

New 23andMe+ Report on Seasonal Allergies

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



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



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



The following is an edited excerpt of our conversation.



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



<figure class="wp-block-gallery has-nested-images columns-default is-cropped wp-block-gallery-1 is-layout-flex wp-block-gallery-is-layout-flex">
<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1181" height="1574" data-id="30266" src="http://35.88.189.111/wp-content/uploads/2022/09/4-At-Work.jpg" alt="Noura at work" class="wp-image-30266" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work.jpg 1181w, https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2022/09/4-At-Work-885x1180.jpg 885w" sizes="auto, (max-width: 1181px) 100vw, 1181px" /><figcaption class="wp-element-caption">Noura and her oldest daughter hard at work</figcaption></figure>



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



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



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



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



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



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



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



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



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



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

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

By Elijah Gray

Amid the flurry of activity at the Lemonaid pharmacy in St. Louis, April Ward’s desk is a beacon of calm. Composure is crucial to her work as office administrator. It’s her job to oversee every facet of pharmacy administration, ensuring that “everyone is taken care of” while managing employee engagement activities.
&nbsp;“We are extremely hard workers who deal with changing circumstances every single day,” she explains. “Whether it&#8217;s technical – we have patient questions that arise every day, clinical counseling, and we’re still dealing with the same things that everyone else in the world face like COVID-19. We show up here every day, working it out together.”

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="580" src="https://blogcms.23andme.com/wp-content/uploads/2022/09/Group-125006-1024x580.png" alt="" class="wp-image-30261" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/Group-125006-1024x580.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/09/Group-125006-300x170.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/09/Group-125006-768x435.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/09/Group-125006-880x498.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/09/Group-125006-1180x668.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6>Prioritizing Teamwork</h6>
This commitment to teamwork and community characterizes the entire pharmacy team, says Sarah Stillman, a pharmacy technician.
“We have a lot of really great people working who you can tell really want to be here, and they want to put in their 100 percent every day,” she says.
<h6>Processing Prescriptions and Serving Patients</h6>
The Lemonaid pharmacy processes prescriptions for almost 200 medications to patients throughout the country.&nbsp;
But employees do more than fill prescriptions and put pills into bottles. “If I could make a broadcast and say, &#8216;this is what a pharmacy is like,&#8217; it’d say that it’s not just sitting and counting pills on a tray,” Sarah explains.
“It’s a lot of math, it&#8217;s a lot of logistics, and what’s shipping where and getting there when. We [also] have to be conscious of the laws of each state. So, in general, it’s a lot more work than most people expect.”
&nbsp;April agrees, adding: “Sometimes our day can be really physically demanding for our employees &#8211; standing, moving heavy boxes, shipping, providing great customer service, making sure things like the lights are paid for. I think we do it quite well.”
Both find the complexity of their work rewarding. “[My favorite part is…] knowing that working here, you’re a part of something bigger as opposed to working at a community pharmacy,” Sarah says. “You’re able to help patients across the country.”
Learn more about Lemonaid Health <a href="https://www.lemonaidhealth.com/">here</a>.&nbsp;

Elijah Gray is a communications intern at 23andMe. He is a writer, college student, and self-proclaimed cat lover.

Elijah Gray

Behind the Scenes at the Lemonaid Pharmacy

A look by researchers of 23andMe’s internal data from customers who consented to participate in research reveals that some gut health issues affect females differently than males and that these conditions have a bigger impact on people of some ethnicities than others.
The insights come from 23andMe internal data regarding two relatively common gut health conditions, irritable bowel syndrome (IBS) and diverticulitis. The findings confirmed what we already know about common gut health issues and their importance in overall health. It also highlights that genetics plays a big role in the likelihood of developing one of these conditions. 
The data shows that the prevalence of these conditions is more common within some ethnicities. Beyond that, certain genetic variants can increase an individual’s risk compared to others of the same ethnicity. Noting the role that ethnicity and genetics play would be important considerations in assessing an individual’s likelihood of developing either IBS or diverticulitis.
This snapshot of 23andMe data from customers who consented to participate in research looks at just two of the<a href="https://www.niddk.nih.gov/health-information/health-statistics/digestive-diseases"> many digestive conditions</a> related to gut health, but they are two conditions that impact millions of people worldwide. 
<h6>The 23andMe Data on IBS</h6>
In the case of IBS, estimates are that it impacts<a href="https://aboutibs.org/what-is-ibs/facts-about-ibs/"> between 25 and 45 million people</a> in the US alone, and it impacts females at a much higher rate. Symptoms often include abdominal pain, cramping, bloating, and changes in bowel function, including diarrhea, constipation, or both.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30700" src="http://35.88.189.111/wp-content/uploads/2022/11/ibs-by-age-and-sex.png" alt="" width="550" height="662" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/ibs-by-age-and-sex.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/11/ibs-by-age-and-sex-249x300.png 249w" sizes="auto, (max-width: 550px) 100vw, 550px" />
A study published in <a href="https://www.nature.com/articles/s41588-021-00950-8">Nature</a> in late 2021 found that IBS symptoms may be caused by the same biological processes that trigger anxiety, depression, and insomnia. It’s not that IBS causes anxiety or mood disorders but that certain genes are involved in the progression of these conditions. Several studies also indicate that these conditions impact females more than males.
According to data from 23andMe, females are about two and a half times more likely to develop the condition than males. (See figure that compares males and females with IBS by age.) While it’s well documented that<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175559/"> sex can impact the likelihood</a> of an individual’s likelihood of developing IBS, far less is known about the role genetics play in this common condition.
Perhaps even more than sex differences, ethnicity and genetics impacts the likelihood of developing IBS. According to new modeling done by 23andMe scientists, both genetics and ethnicity have a big impact on the likelihood of an individual being diagnosed with IBS. In some cases, they present a much bigger risk than previously published non-genetic factors.
In looking at ethnicity, people with largely Latino or largely European ancestry have the highest likelihood of developing IBS compared to those of other ethnicities. For example, people with mostly European ancestry are almost three times more likely to develop IBS than those of mostly East Asian ancestry. 
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30702" src="http://35.88.189.111/wp-content/uploads/2022/11/prevelance-of-ibs-by-ethnicity.png" alt="" width="550" height="452" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/prevelance-of-ibs-by-ethnicity.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/11/prevelance-of-ibs-by-ethnicity-300x247.png 300w" sizes="auto, (max-width: 550px) 100vw, 550px" />
<h6>Statistical Modeling</h6>
When researchers stratified the data and looked at individuals with a higher genetic likelihood of developing IBS — based on statistical modeling that used more than 12,000 genetic markers associated with IBS — compared to those with the least likelihood, the differences were stark. 
For example, people with predominantly Latino ancestry who also were in the highest genetic likelihood* category for IBS are four and a half times more likely to be diagnosed with IBS than Latinos with the lowest genetic likelihood.** If you look at people with primarily European ancestry who are also in that higher genetic likelihood category,* they were more than three and a half times more likely to be diagnosed with IBS than people of European ancestry at the lowest genetic likelihood.**
Why is this distinction important?  
Because it shows the outsized impact that genetic factors play on the likelihood of IBS. If you were to graph the polygenic risk for IBS, you’d see a bell curve distribution. Most people would have an average risk or be in the middle of that curve. But at the ends of this curve would be those with the least risk and the most risk.
For those with the highest genetic likelihood* — in the top five percent — the odds that they may develop IBS are quite high when compared to those at the lowest likelihood.** That information on their genetics could be very important for them and their provider in managing their health.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30703" src="http://35.88.189.111/wp-content/uploads/2022/11/odds-of-developing-ibs-among-those-at-highest-genetic-risk.png" alt="" width="550" height="764" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/11/odds-of-developing-ibs-among-those-at-highest-genetic-risk.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/11/odds-of-developing-ibs-among-those-at-highest-genetic-risk-216x300.png 216w" sizes="auto, (max-width: 550px) 100vw, 550px" />
<h6>23andMe Data on Diverticulitis </h6>
23andMe’s data on diverticulitis confirms some of what we already know but also offers up a few surprises.
As with IBS, both ethnicity and genetics play an important role in the likelihood of developing diverticulitis. While it is relatively common, many people don’t know much about diverticulitis.
It occurs in the intestinal tract, where weak sections of the intestines lead to small bulges or pouches that become inflamed. These pouches, most often found in the large intestine (also called the colon), are called “diverticula.” They are common, especially as we age, but do not cause problems.
It’s estimated that more than half of people in the United States over 60 have diverticula and most likely never have any issues. But fewer than five percent of those individuals will develop inflammation in these pouches, a condition called “diverticulitis,” according to the<a href="https://www.niddk.nih.gov/health-information/digestive-diseases/diverticulosis-diverticulitis/definition-facts"> National Institutes of Health.</a> This can lead to symptoms such as abdominal pain, vomiting, fever, constipation, or diarrhea. More serious complications, such as blockages or perforations, can lead to hospitalization.
<h6>Diverticulitis and Ethnicity</h6>
While females were more likely to have been diagnosed with diverticulitis, the difference between males and females was less profound than that for IBS. And in the case of diverticulitis, the likelihood of developing the condition increases considerably as people age, according to the data.
People of European ancestry had the highest prevalence for diverticulitis and those of South Asian ancestry the lowest among individuals we studied.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-30713" src="http://35.88.189.111/wp-content/uploads/2022/09/prevalence-of-diverticulitis-by-age-and-sex.png" alt="" width="550" height="662" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/09/prevalence-of-diverticulitis-by-age-and-sex.png 550w, https://blogcms.23andme.com/wp-content/uploads/2022/09/prevalence-of-diverticulitis-by-age-and-sex-249x300.png 249w" sizes="auto, (max-width: 550px) 100vw, 550px" />
Looking at genetic likelihood of developing the condition, 23andMe data indicates that people with North African ancestry and Western Asian ancestry (Arabs, Kurds, Persians, and people from Anatolia for example) with the highest genetic risk* for being diagnosed with diverticulitis are about seven times more likely to be diagnosed with diverticulitis than those with the lowest genetic risk.**  
People of mostly European ancestry with the highest genetic risk* are five and a half times more likely to be diagnosed with diverticulitis based on their genetics than those with the lowest genetic risk.** People with mostly East or Southeast Asian ancestry who are at the highest genetic risk* for diverticulitis are five times more likely to be diagnosed with diverticulitis than those with the lowest genetic risk.**
<h6>Wrapping Up</h6>
This snapshot of 23andMe data on two gut health conditions reveals something many haven’t fully understood. It&#8217;s not just that genetics plays an important role in risk, but a person&#8217;s genetics together with their ethnicity matter. 
*Highest risk category: 5% of a given ethnicity, for example, Latino, with the highest genetic risk of being diagnosed with a condition
**Lowest risk category: 5% of a given ethnicity with the lowest genetic risk of being diagnosed with a condition.

Some Data to Digest About Gut Health

An interest in genetics, a passion for patient care, and a graduate school epiphany put Amy Curry Sturm on the road to 23andMe, where she recently assumed the newly created role of Director of Population Health Genomics.



&nbsp;We caught up with Amy to learn more about her career path, her plans, and why the phrase “no dead ends” has become her new favorite mantra.



The following is an edited excerpt of our conversation.



<h6 class="wp-block-heading" id="h-what-inspired-you-to-pursue-a-career-in-genetics-and-genomics">WHAT INSPIRED YOU TO PURSUE A CAREER IN GENETICS AND GENOMICS?</h6>



I was inspired from a very early age to go into a career where I could dedicate myself to keeping people healthy and preventing disease.



My background as an undergraduate was pre-med because I was very interested in medicine and disease prevention, but I also knew I never wanted to be a doctor.



I then went through a Ph.D. program in pathology, thinking I’d go into some area of research to prevent disease.&nbsp;



But I realized that I didn’t want to be working at a bench in a laboratory; I wanted to work more directly with patients and deliver amazing scientific discoveries directly to them.



<figure class="wp-block-image size-larger"><img loading="lazy" decoding="async" width="880" height="587" src="http://35.88.189.111/wp-content/uploads/2022/08/Amy-in-Australia-880x587.jpeg" alt="Amy in Australia" class="wp-image-30057" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-880x587.jpeg 880w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-300x200.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-768x512.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-1024x683.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia-1180x786.jpeg 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Amy-in-Australia.jpeg 2048w" sizes="auto, (max-width: 880px) 100vw, 880px" /><figcaption>A quick stop on the southwestern coast of Australia before presenting at the Australian Society of Human Genetics and Genetic Counselors Meeting.</figcaption></figure>



Luckily, I found genetic counseling —a very young profession in the 1990s — and pursued my graduate degree in genetic counseling.



With that degree, I’ve been able to dedicate my career to using genetic information to prevent disease. And that’s what drives me, trying to utilize all that information to keep people healthy from a very young age. So I’m excited to do that now at 23andMe!



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



My role at 23andMe is Director of Population Health Genomics. I sit within the product organization, but I plan and hope to work across a lot of different areas within 23andMe.



My role involves working with the product team to look for ways to bring 23andMe&#8217;s vision and commitment to integrating genetic information into clinical care for patients.&nbsp;



One thing I really love that I keep hearing the product and design teams say is that there are “no dead-ends.”&nbsp;



That’s become a mantra as we build everything out. We want to truly give our customers no dead-ends;&nbsp; we want them to have the next steps they need to take action based on their genetic information to keep them as healthy as possible.



<h6 class="wp-block-heading" id="h-how-does-your-new-role-differ-from-your-past-roles-and-responsibilities">How does your new role differ from your past roles and responsibilities?</h6>



It’s extremely different from anything I’ve ever done.&nbsp; This is my first time working for a&nbsp; genetics company. My past experience has been working for major healthcare institutions.



I started as a genetic counselor in 2002, so over the past 20 years, I’ve worked at a large children’s hospital, a large university medical center (Ohio State), and then a large integrated healthcare system (Geisinger).&nbsp;



<figure class="wp-block-gallery has-nested-images columns-default is-cropped wp-block-gallery-2 is-layout-flex wp-block-gallery-is-layout-flex">
<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="685" height="919" data-id="30054" src="http://35.88.189.111/wp-content/uploads/2022/08/Sturm-Family-Summer-2022-e1661968656481.jpeg" alt="Sturm Familly Photo" class="wp-image-30054" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Sturm-Family-Summer-2022-e1661968656481.jpeg 685w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Sturm-Family-Summer-2022-e1661968656481-224x300.jpeg 224w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Sturm-Family-Summer-2022-e1661968656481-656x880.jpeg 656w" sizes="auto, (max-width: 685px) 100vw, 685px" /><figcaption> Serendipitous color coordination called for a family photo! Amy with her husband Jeff, son Jack, and daughter Stella. </figcaption></figure>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1365" height="1827" data-id="30053" src="http://35.88.189.111/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485.jpeg" alt="Amy Halloween" class="wp-image-30053" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485.jpeg 1365w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-224x300.jpeg 224w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-768x1028.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-765x1024.jpeg 765w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-657x880.jpeg 657w, https://blogcms.23andme.com/wp-content/uploads/2022/08/Jeff-and-Amy-Halloween-Party-e1661968459485-882x1180.jpeg 882w" sizes="auto, (max-width: 1365px) 100vw, 1365px" /><figcaption>Amy and her husband dressed up for their Halloween Party. Amy went as her childhood favorite, Mary Poppins.</figcaption></figure>
</figure>



I’ve always worked within that healthcare space. I’ve had multiple different roles within those settings, ranging from taking care of patients and families directly as a clinical genetics counselor to leading large research initiatives and developing new programs from the ground up.



But I have always been industry-curious and interested in working within this space for a company like 23andMe.



It’s very different from anything I’ve ever experienced in my career, which is exciting! I love innovating and feeling like I’m in a cutting-edge space; I love building things from the ground up. So that motivated me to make the leap and finally enter an industry setting.&nbsp;



<h6 class="wp-block-heading" id="h-what-are-you-most-excited-to-work-on-as-you-look-to-the-future-1">WHAT ARE YOU MOST EXCITED TO WORK ON AS YOU LOOK TO THE FUTURE?</h6>



I’m extremely excited to have the opportunity to help build the future delivery of new product offerings from 23andMe.



I’m thrilled to help build a path for individuals on their health journey. They can come to 23andMe, get their DNA insights, and learn personalized, preventive, proactive recommendations for their health and actions they and their families can take. We can provide the next steps on that journey and can also now deliver telehealth services via Lemonaid Health, now part of the 23andMe family.&nbsp;



The goal is to bring genetics into the primary care setting to deliver more personalized care. That goal is front and center – it’s what excites me to wake up and get to work every day!

Amy Curry Sturm on Harnessing the Power of Genetic Information

Listening to those with a rare disease, a common refrain is that they often feel isolated, unheard, and alone.
But they’re not alone.&nbsp;&nbsp;
<h6>Much to Learn</h6>
While each rare disease is by definition uncommon — affecting fewer than 200,000 people — there are more than 7,000 known rare diseases. There are more than 300 million people worldwide who have a rare disease. Yet because these rare diseases are unique and affect small groups of people, the conditions are difficult to study.&nbsp;
Disease research can sometimes be a numbers game, and research into rare diseases is often stymied as scientists struggle to gather enough individuals with the condition who are able to participate in their research. While we know that about 70 percent of rare diseases are genetic, there is so much we don’t know about these conditions. Only about 5 percent of all rare diseases have approved treatments.&nbsp;&nbsp;
<h6>Potential for Insight</h6>
23andMe hopes to change that. Part of our mission as a company is to focus our therapeutics efforts on conditions with unmet needs and to maximize our chances of discovering novel genetic insights to help in that search.&nbsp;
In the last few years, our researchers have discovered how powerful our unique research platform is for making important discoveries about these rare conditions. People with rare diseases are not limited by geography, and can easily participate in research if they choose, while our scientists can leverage online tools and data on a massive scale, to study a broad range of conditions.
“We have the potential of making genetic findings for several rare diseases for which there currently is very little known,” said John Matthews, Ph.D., M.D., and the Senior Clinical Development Fellow on 23andMe’s Therapeutics team.
<h6>23andMe’s Rare Disease Research Study</h6>
23andMe’s Rare Disease Research Study will start with a handful of rare diseases, recruiting individuals to participate in innovative genetic research around —<a href="https://www.23andme.com/systemic-sclerosis-study/"> systemic sclerosis</a> (a study we first started in 2021), ANCA-associated vasculitis, pemphigus vulgaris, and dermatomyositis.&nbsp;
<ul>
<li style="font-weight: 400;" aria-level="1">Systemic sclerosis causes the hardening of the body’s connective tissue.</li>
<li style="font-weight: 400;" aria-level="1">ANCA-associated vasculitis (AAV) is actually a group of autoimmune diseases that are characterized by inflammation of small vessels.&nbsp;</li>
<li style="font-weight: 400;" aria-level="1">Pemphigus vulgaris is an autoimmune disorder that involves blistering and erosion of the skin as well as the mucous membranes.</li>
<li style="font-weight: 400;" aria-level="1">Dermatomyositis is an inflammatory disease marked by muscle weakness and a distinctive skin rash.</li>
</ul>
In addition to these four conditions, 23andMe will expand another existing rare disease study on <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">&nbsp;idiopathic pulmonary fibrosis</a>, which causes irreparable scarring of the lungs that progressively worsens lung function. The study now will broaden to include other types of lung fibrosis as part of this program.&nbsp;
The hope is that this work will lead to discoveries and insights into possible new treatments. We plan to slowly expand the number of conditions we study in the coming months.
In typical rare disease research, scientists have relied on very small cohorts of perhaps a few dozen individuals or studied members of the same family who all might share a rare condition. But that makes it very difficult to gain new insight into genetic variants that were previously unknown to be associated with these rare conditions.
<h6>A Revelation</h6>
In what at the time was believed to be the largest genetic study of rare diseases, 23andMe published research in 2021 explaining how the company is uniquely positioned to<a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/"> study rare diseases.</a>&nbsp;
Using data from more than 1.6 million research participants, including 19,000 who reported a rare disease diagnosis, 23andMe scientists conduct genome-wide association studies on 33 different rare diseases. The 23andMe study is the first Genome-Wide Association Study (GWAS) ever done for a few of these rare conditions. The study identified new genetic associations for each. The research was a revelation. Finding these associations offers scientists a deeper understanding of the biological pathways for the conditions and offers the possibility for identifying potential treatments.
“It was a surprise for us when we were able to find genetic associations in studies of rare diseases with only tens of affected individuals,” said 23andMe senior scientist in statistical genetics, Suyash Shringarpure, Ph.D., who worked on the study. “Another surprise was finding that common genetic variants show association with rare disease risk. Previously, it has been found that rare genetic variants cause rare diseases, so this was unexpected.”
You can learn more about 23andMe’s Rare Disease Study by following the links to the disease-specific landing pages below:
<ul>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/systemic-sclerosis/">Systemic sclerosis</a>&nbsp;</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/anca-associated-vasculitis/">ANCA-associated vasculitis</a>&nbsp;</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/pemphigus-vulgaris/">Pemphigus vulgaris</a></li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/dermatomyositis/">Dermatomyositis</a></li>
</ul>
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