In the last two years as interest in consumer DNA testing continues to remain strong, primary care physicians have become increasingly comfortable with discussing these results with their patients, a new study shows.
“This study highlights a significant shift in how primary care physicians view direct-to-consumer genetic health testing,” said L. Okey Onyejekwe Jr., MD, JD, Vice President of Healthcare Operations and Medical Affairs at 23andMe. 
The evolution of views has come as consumer interest in DNA testing remains strong.
“In just two year’s time, the data show primary care physicians are much more accepting, and in some cases wholeheartedly embracing this type of testing, especially tests that include health reports with FDA oversight,&#8221; Dr. Onyejekwe said. &#8220;As more consumers turn to direct-to-consumer genetic testing for health insights into their genome, it’s encouraging to see that primary care physicians are much more open to patients bringing their test results into the clinic for further discussion and potential follow up testing when warranted.” 
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="576" src="https://blogcms.23andme.com/wp-content/uploads/2021/01/Infographic-23andMe-Genetic-Testing-11-1024x576.jpg" alt="" class="wp-image-28720" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/01/Infographic-23andMe-Genetic-Testing-11-1024x576.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/01/Infographic-23andMe-Genetic-Testing-11-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2021/01/Infographic-23andMe-Genetic-Testing-11-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/01/Infographic-23andMe-Genetic-Testing-11-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2021/01/Infographic-23andMe-Genetic-Testing-11-1180x664.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/01/Infographic-23andMe-Genetic-Testing-11.jpg 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
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<h6>Discussing Results </h6>
According to the study — done by Medscape and in collaboration with 23andMe — primary care physicians’ comfort level in discussing DNA testing results with patients has more than doubled since 2018. 
For this study, researchers surveyed 1,000 primary care physicians to gauge their comfort with genetic testing overall, including assessing attitudes toward direct-to-consumer genetic health testing specifically. The results were then compared to those of a similar survey conducted in 2018. The study found that when compared to two years ago, physicians were twice as likely to be comfortable discussing the benefits, risks, and limitations of genetic health testing, as well as interpreting and discussing results of a genetic test. 
<h6>Making Recommendations</h6>
Beyond that, the report also found that 80 percent of primary care physicians are open or likely to recommend direct-to-consumer genetic testing for health if asked about it by their patients, and for 61 percent of primary care physicians, FDA oversight of health reports was a necessary element of any direct-to-consumer genetic test they might recommend.
“The shift in the primary care community’s point of view on genetic testing over a relatively short period of time is striking, and points to the test’s results having greater utility and impact inpatient care,” said Hansa Bhargava, M.D., Medscape Senior Medical Director. “We are pleased that we could contribute to increasing awareness of the role of genetic testing in the primary care environment.”
<h6>Recommending Next Steps</h6>
When it comes to all testing, not just direct-to-consumer tests, 71 percent of primary care physicians said they are comfortable making appropriate referrals to specialists based on genetic information. In 2018, just 44 percent said they were comfortable making such recommendations. Further, 46 percent of the physicians surveyed said they are comfortable ordering genetic testing, which is more than four times as many as 2018. Finally, 41 percent of those surveyed said they are comfortable using genetic information to make treatment decisions, a two-fold increase over 2018. 
The survey indicates a sea change in how primary care physicians perceive direct-to-consumer genetic testing over the last decade and a half.
<h6>Changes Over Time </h6>
Just four years ago, a study by<a href="https://www.genomes2people.org/wp-content/uploads/2016/02/Van-Der-Wouden-et-al-2016.pdf"> the Impact of Personal Genomics Study Group</a> found that many consumers said their physicians were skeptical of direct-to-consumer genetic testing, about 11 percent. The study found that about 22 percent of patients said their physicians were uninterested in their results, and another 22 percent simply didn’t understand the results or lacked knowledge of genetic testing.
In 2019, researchers at Duke University’s Center for Applied Genomics and Precision Medicine and at 23andMe identified a need for more genetics training for primary care physicians.<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617198/"> The study</a> went on to show that after completing direct-to-consumer testing themselves, many physicians felt much more confident and comfortable discussing direct-to-consumer testing.
23andMe has dedicated resources to support Healthcare Professionals to assist them in becoming familiar with its reports and direct-to-consumer genetic testing for health.

A photo of a doctor showing a patient information on a digital tablet.

23andMe Blog

23andMe Blog Team

Physicians Increasingly Comfortable Discussing Consumer DNA Testing with Patients

<figure class="wp-block-image alignright"><img loading="lazy" decoding="async" width="300" height="300" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/sun-300x300.png" alt="" class="wp-image-25177" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2017/03/sun.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



A team of scientists at 23andMe created a new model to better estimate skin cancer risk, one of the most commonly diagnosed forms of cancer.



Details of the new model are included in a study published in <a href="https://www.nature.com/articles/s41467-020-20246-5">Nature Communications</a> today.



Using genetic and other data from more than 210,000 customers who consented to participate in the research, the 23andMe team created a model to calculate a risk score for the three forms of skin cancer. The model relied on more than 100 known genetic variants for skin cancers and dozens of non-genetic risk factors, including family cancer history, <a href="https://www.23andme.com/topics/traits/skin-pigmentation/">skin pigmentation</a>, and sun exposure.



According to the study&#8217;s lead author, Pierre Fontanillas, Ph.D., and a senior statistical geneticist at 23andMe, the new model could help detect skin cancer earlier. 



“There remains considerable room to improve the risk model by including additional data, especially from people of non-European ancestry,” said Pierre. “But we’ve shown the ability to use a risk model to potentially identify people with elevated risk for skin cancer who do not currently have identifiable symptoms.”<code></code><wp-block data-block="core/more"></wp-block>



<figure class="wp-block-image alignright wp-image-26632 size-medium"><img loading="lazy" decoding="async" width="199" height="300" src="https://blog-api.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-199x300.jpg" alt="" class="wp-image-26632" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-199x300.jpg 199w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-768x1156.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-680x1024.jpg 680w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-585x880.jpg 585w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-784x1180.jpg 784w, https://blogcms.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-scaled.jpg 1701w" sizes="auto, (max-width: 199px) 100vw, 199px" /><figcaption class="wp-element-caption">23andMe Senior Statistical Geneticist Pierre Fontanillas, Ph.D.</figcaption></figure>



<h2 class="wp-block-heading" id="h-one-in-five">One in Five</h2>



Such early detection could have broad benefits. In the United States alone, one in five people is likely to develop skin cancer in their lifetime. Despite being preventable, more than 15,000 Americans die each year from one of the three major types of skin cancer — basal cell carcinoma, squamous cell carcinoma, and melanoma.



Using the new model they developed, the 23andMe scientists found the research participants in this study with the highest risk scores were up to 13 times more at risk of <a href="http://35.88.189.111/articles/new-23andme-report-on-skin-cancer">developing skin cancer.</a> The work doesn’t just offer the potential for identifying people with elevated risk for cancer. It also could help predict such things as the age of onset and the severity of cancer.



Early detection and treatment for skin cancer can go a long way in improving outcomes. Currently, early detection relies on regular full-body skin examinations. While inexpensive and non-invasive, there’s little evidence that it’s an effective method for detecting skin cancer in the general population. Developing a more accurate predictor for individual risk for cancer has been difficult.



<h2 class="wp-block-heading" id="h-new-tools">New Tools</h2>



Finding tools for better risk prediction and earlier detection offers hope for better outcomes.



“These scores rely on the long tail behavior of the genetic and non-genetic factors and potentially enable the identification of asymptomatic individuals with elevated skin cancer risk,” the scientists said in the paper.



Because this initial work included data primarily from customers with European ancestry, the researchers plan to expand the study to include data from individuals with non-European ancestry. Also, they hope to improve how they estimate sun exposure and refine the genetic risk score. According to the researchers, the goal is to develop risk estimates accurate enough to be used clinically and individually.



<h2 class="wp-block-heading" id="h-polygenic-risk-scores">Polygenic Risk Scores</h2>



Over the last several years, scientists have developed <a href="https://blog.23andme.com/articles/nilanjan-chatterjee">polygenic risk scores </a>that rely on large sets of genetic and non-genetic data to better calculate disease risk. 23andMe has used this kind of risk modeling for its <a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/">Type 2 Diabetes Report (Powered by 23andMe research)</a>. The T2D report calculates a polygenic score based on more than 1000 genetic variants. The report also relied on data from more than 1.1 million 23andMe customers who consented to participate in the research. 



As more genetic data become available, polygenic risk models are increasingly being used to help calculate risk. Often, these models use many hundreds, or even thousands, of genetic variants to calculate risk. These new models can also include other factors — such as lifestyle and environmental influences — to offer a clearer picture of disease risk. Also, including data from more diverse populations can be used to predict risk in underrepresented populations better.



At this time, 23andMe does not offer a report on skin cancer.

A Better Way to Estimate Skin Cancer Risk

Like most offices in Silicon Valley, these days 23andMe’s headquarters is largely vacant as employees have adjusted to working from home during the pandemic. But that hasn’t stopped us all from admiring the innovative design that went into the construction of the 145,500-square-foot building and how it is now being managed.
It’s comforting to know we’re not the only ones who noticed, and this week we learned that the U.S. Green Building Council recognized 23andMe for designing and managing its offices with energy efficiency, waste reduction, and sustainability in mind.
<h6>Going Green</h6>
The council awarded 23andMe with a Leadership in Energy and Environmental Design (LEED) Platinum designation for its Sunnyvale office building. The designation is based on a green building rating. Through design, construction, and operations practices that improve environmental and human health, LEED-certified buildings are helping to make the world more sustainable.
&#8220;We strive to ensure our work environments are designed and operated to achieve high performance, improve human health and protect the environment,” said Jason Lester, 23andMe’s Director of Workplace Experience. “Obtaining LEED Platinum certification for our Sunnyvale location demonstrates our commitment to doing so.&#8221;
<a href="https://www.usgbc.org/help/what-leed">LEED</a> is a globally recognized green building rating system developed by the U.S. Green Building Council. Achieving LEED certification helps:
<ul>
<li aria-level="1">Save money in energy, water, maintenance, and waste</li>
<li aria-level="1">Improve health with cleaner air, access to daylight, and reduced pollution</li>
<li aria-level="1">Reduce energy and carbon emissions with water conservation, reduced waste, use green materials, and sustainable strategies</li>
</ul>
Buildings like 23andMe’s Sunnyvale office earn points across several categories for various green building strategies in order to achieve LEED Certification. There are four possible LEED rating levels that can be achieved:
<h6>LEED Platinum</h6>
23andMe achieved LEED Platinum Certification by implementing practical and measurable strategies and solutions in areas including sustainable site development, water savings, energy efficiency, materials selection, and indoor environmental quality.
23andMe has also gone above and beyond the majority of LEED Certified buildings by ensuring that paints and coatings, flooring, insulation, and other composite wood materials in the Sunnyvale building were installed to meet stringent emission testing standards.
<h6>Looking Ahead</h6>
Though COVID-19 guidelines are currently preventing the majority of Sunnyvale employees from returning to the office, members of our Workplace team have remained in the offices developing the most optimal environment for employees to eventually return to. This includes benefits like:
<ul>
<li aria-level="1">Over 20 percent energy savings including the use of onsite renewable energy generation</li>
<li aria-level="1">Over 40 percent reduction of indoor water use</li>
<li aria-level="1">Higher indoor air quality due to enhanced ventilation and low-emitting material selection.</li>
</ul>
In the coming months, the work to maintain these standards will continue in preparation for a time when employees will be able to come back to work safely.

23andMe Awarded LEED Platinum Status for HQ’s Environmental Design  

It wasn&#8217;t until she was 30 that Bonnie dared to search for the details of her birth.
An adoptee with loving parents and a brother and sister she adored, Bonnie said she never asked for more information about her origins because she thought she couldn&#8217;t.
&#8220;I didn&#8217;t ask questions because somewhere along the way, I think I was taught not to ask for too much,&#8221; she said. &#8220;Or maybe I was afraid.&#8221;
So Bonnie waited until after her first son&#8217;s birth to track down her birth certificate. On it, she learned of her biological mother&#8217;s name but nothing more. It would take almost three decades, two more sons, and a lucky connection on 23andMe before Bonnie filled in the details. She learned how she came to be born and found the links to establish deep relationships with newfound family.
&#8220;It was a surprise when it happened,&#8221; said Bonnie, who never expected to find any relatives.
<h6>Lucky Coincidence </h6>
The first surprise came a few years ago after she opened up her 23andMe results. She&#8217;d purchased a kit with the hope of finding more about her health, but within a day of getting her results, she instead found a half-brother on her birth father&#8217;s side. It turned out her brother had tested at almost the exact same time as Bonnie. She took the lucky coincidence as an omen that waiting all that time was all meant to be.
Both Bonnie and her brother were shocked by the connection, but he was more so because he&#8217;d always thought he was an only child.
It turned out their father — who died many years before Bonnie and her brother connected — had had an affair with Bonnie&#8217;s birth mother. Bonnie was born and put up for adoption, a secret kept from him. 
<h6>Nature and Nurture</h6>
While her brother didn&#8217;t have the details, he shared with Bonnie more about their father, a learned man interested in art. That explained a few things for Bonnie, who has a BFA in drawing and photography. She was also part of the first generation in her family to go to college. In addition to her path toward higher learning, her sons also have an academic bent. One is a medical doctor, the other a patent attorney, and her youngest son is a computer science major at Ohio State University.
&#8220;I can go into nurture versus nature quite well now,&#8221; Bonnie said. &#8220;Religion and politics: taught. Sense of humor, talents, intelligence: inherited.&#8221;
She believes her interest in art may have come from her father, who was somewhat of an artist himself.
&#8220;These inherited traits are why I mentioned the success of my children,&#8221; Bonnie said. &#8220;I always gave my husband credit for our kids&#8217; intelligence, but now I know it is inherent on both sides!&#8221;
<h6>Putting it Together</h6>
Connecting with her brother opened up the door into her paternal side. Still, that initial conversation with him also gave Bonnie little bits of information — places and names — that helped her piece together her mother&#8217;s identity. Within a few days of that initial conversation, Bonnie connected with her birth mother and found out she had two sons, two more half-brothers for Bonnie.
&#8220;The oddest thing about the off and on &#8216;search&#8217; for my birth mother through the years is that her name never came up in it,&#8221; Bonnie said. &#8220;I looked through vital statistics for hours to no avail. But the day I found a birth brother on 23andMe, I suddenly found a trail to her.&#8221;
After the initial connection, Bonnie spent time cultivating relationships with both sides of her family. By chance, her birth mother and birth father&#8217;s family lived not far from each other in California. Their proximity has allowed Bonnie to visit both sides of her family and, over the years, build authentic family connections.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="728" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2021/01/IMG_2983-728x1024.jpg" alt="" class="wp-image-28701" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/01/IMG_2983-728x1024.jpg 728w, https://blogcms.23andme.com/wp-content/uploads/2021/01/IMG_2983-213x300.jpg 213w, https://blogcms.23andme.com/wp-content/uploads/2021/01/IMG_2983-768x1080.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2021/01/IMG_2983-626x880.jpg 626w, https://blogcms.23andme.com/wp-content/uploads/2021/01/IMG_2983-839x1180.jpg 839w, https://blogcms.23andme.com/wp-content/uploads/2021/01/IMG_2983.jpg 1404w" sizes="auto, (max-width: 728px) 100vw, 728px" /></figure>
 
<h6>Mother and Daughter</h6>
She&#8217;s learned more about traits she shares with her mom — mannerisms, a love of books and learning, and she now understands more about what led to her adoption. There was never any question they were mother and daughter. The two look almost identical. They also share many of the same mannerisms, even some of the same likes and dislikes.
Bonnie said the connection helped her, but it has given her birth mother solace. Her birth mother was just a young college student when she became pregnant. She&#8217;d been alone and fearful. She never told her parents or her siblings about what happened. She also had to sign an agreement that she wouldn&#8217;t look for her daughter after the adoption.
&#8220;She struggled that year,&#8221; Bonnie said. &#8220;She loved my father and lost him, lost me, got married, and moved.&#8221;
She never forgot about Bonnie, and she sometimes agonized over giving her up.
&#8220;She had some healing to do,&#8221; Bonnie said.
When the two met in person the first time, Bonnie brought a small picture book. In it, she&#8217;d included photos from her life, her family, and her history to show her how happy she was.
&#8220;It helped,&#8221; Bonnie said.
<h6>Bonding</h6>
Meeting in person and meeting Bonnie&#8217;s sons also eased her mind that she&#8217;d made the right decision.
&#8220;It especially helped to meet us all and know that it had to be this way (her giving me up) to make the family I have,&#8221; Bonnie said.
Her birth mother had told her two sons when they were in high school about giving up a daughter, so they knew they had a sister out there. When Bonnie found them, they bonded.
&#8220;They accept me with love,&#8221; she said.
Bonnie has also bonded with one of her nieces, Ashlee, and continues to stay in touch with her brother on her father&#8217;s side. Bonnie&#8217;s siblings have also grown to embrace this bigger family.
&#8220;They know how happy I am that I got to grow up with them because I tell them all the time,&#8221; she said.
Bonnie said she felt so lucky not just to have the family she grew up with but two mothers, and two more families who opened their arms to her.
&#8220;It would have been nice to have this birth family relationship more years ago,&#8221; said Bonnie. &#8220;But maybe &#8230;  I wouldn&#8217;t have had the peace and joy that I do now. (And), hey, 23andMe wasn&#8217;t around back then to help me.&#8221;

23andMe Helps Adoptee Find Birth Family

By Amanda McCorquodale
For Christmas a few years ago, Tami Hawley’s brother gave her a 23andMe kit, a life-changing gift that ultimately connected her to the son she’d given up for adoption more than three decades ago.
“I was 17 and scared,” she said. “No one ever knew.”
When she received the gift, Tami had been writing a novel based on her family history and her experience of having to give up her son as a teenager, but she hadn&#8217;t finished it. She didn&#8217;t know how to write about that part of her life. That’s why the gift, even before she made the connection, had been so important.
“I just remember opening the 23andMe kit, crying and saying, ‘This is why my book’s not done,’” she said.
&nbsp;

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="640" height="480" src="https://blogcms.23andme.com/wp-content/uploads/2020/12/Tami-and-Matt-2.png" alt="" class="wp-image-28699" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/Tami-and-Matt-2.png 640w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Tami-and-Matt-2-300x225.png 300w" sizes="auto, (max-width: 640px) 100vw, 640px" /></figure>
 
<h6>A Match</h6>
Finding her son took time. For nearly two years, Tami opened up emails from 23andMe alerting her to new DNA relatives with bated breath. After a while, however, she stopped looking at the emails as regularly. But one day, she decided to take another look and saw she had new DNA Relatives on 23andMe. Among her matches was as predicted “Son.”  
“I was sitting on my living room couch and for five minutes, I just sat there in shock,” she said.
Tami saw his name for the first time. When she told her husband the secret she had kept for so long, he immediately urged her to direct message her son from her 23andMe account. 
<h6>The Note</h6>
Tami did, but she didn’t hear back right away. About a month later, on her son’s birthday, she looked him up on Facebook and wrote him a note:
I&#8217;m so glad that after 32 years, no one and nothing stands in the way of me wishing you a Happy Birthday.
“I wanted him to know that every April 26, I thought about him,” she said.
Her son, Matt, replied within 30 minutes. Initially, the two began texting and then having long conversations comparing their similarities and discovering their differences. 
<h6>Meeting for the First Time</h6>
Tami had been living in southwestern Connecticut when she had Matt, who was then adopted and raised in New Jersey. He now lives in Boston, about an hour and 20 minutes away from Tami in northeast Connecticut. They met for the first time in September of 2019.
“We met at a Starbucks where we sat for over an hour and talked non-stop,” she said. “I noticed that we had the same mannerisms with our hands. In fact, I eventually sat on my hands because I didn&#8217;t want to make him uncomfortable by seeing we were doing the same things.”
It was one of many traits the two share, Tami said.
“It has been eye-opening to realize how many things really are linked to genetics,” she said. “For the first time, he’s around people that look like him. I see me in him. I see each of my brothers. It’s fascinating.”
<h6>The Best Gift</h6>
Matt’s 23andMe kit was also a Christmas gift from his girlfriend.
“I think one of the big questions he always had was whether he was wanted,”  Tami said. “My hope is that finding out that he was wanted has had a very positive impact on him.”
Tami admits it’s been bittersweet to hear how wonderful Matt’s adoptive mother is and recognizing that as strong as genetics are, so much of our personalities are rooted in how we grew up.
“I’m a very emotional person and he definitely is not, at least not outward,” she said.
At one point she asked him if he was glad he took the test and connected with her and he reassured her by saying, “Absolutely, not even a question.” 
<h6>Bringing Joy </h6>
After their initial meeting, Matt and Tami got together about once a month until the pandemic stopped most in-person gatherings.
“First, he met my husband, brothers, and my best friend. Then he met my mother and my nieces literally the day before everything shut down,” Tami said. 
In August, the extended family and Matt got together again for an outdoor picnic. 
“Right now, we connect about once a week,” she said. “I would like it to be more often, but I&#8217;m trying not to overwhelm him.”
A year and a half after their first meeting, Tami said she finds herself looking at the selfie they took together.
“His smile is so big and both of us just look so happy,” she said. “It has been a roller coaster of emotions from fear to guilt to sadness to anger, and countless more. But I wouldn’t trade knowing him for anything.”
It has brought her happiness.
“The joy has been something I never imagined I could have, something I thought for so long I wasn’t deserving of,” Tami said. “It’s hard to put into words, in fact, but when I allow myself to fully experience it, it is a beautiful sense of wholeness and freedom, not just from finally being able to start living the truth of who I am, but in finding this amazing human I can tell the world is my son.”
Amanda McCorquodale is a freelance writer. Her work has appeared in Gourmet, Miami Magazine, and Mental Floss. She previously worked as an associate editor at the Huffington Post and as an Arts and Culture Editor at the Miami New Times. She lives in New York with her family. Previously she wrote a three-part series on her own DNA journey with 23andMe.

A tree in the snow in a forest that is lit up like a Christmas tree.

23andMe Christmas Gifts Reunite Mother and Son

<img loading="lazy" decoding="async" class="alignright wp-image-28683 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/12/customer-panel-v1-300x170.jpg" alt="" width="300" height="170" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/customer-panel-v1-300x170.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/12/customer-panel-v1-1024x580.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/12/customer-panel-v1-768x435.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/12/customer-panel-v1-880x498.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2020/12/customer-panel-v1-1180x668.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/12/customer-panel-v1.jpg 1996w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This holiday, 23andMe invited three customers to join us virtually and share their DNA discovery stories. Hearing from customers first-hand reminds us of how our work impacts people’s lives. It also gives us a glimpse into our customers’ experience.
This year we heard from Jason, Kimberly, and Lynn. They each shared their stories and described their plans to expand their (virtual) holiday tables this year in order to fit their newfound relatives.
Customer Lynn Mendelson summed up the feeling each had when she said that neither the pandemic nor the quarantine changed the joy of finding family this year.
“Nothing can dampen this discovery,” Lynn said.

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="768" src="https://blogcms.23andme.com/wp-content/uploads/2020/12/IMG_8997-1024x768.png" alt="" class="wp-image-28681" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/IMG_8997-1024x768.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/12/IMG_8997-300x225.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/12/IMG_8997-768x576.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/12/IMG_8997-880x660.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/12/IMG_8997-1180x885.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/12/IMG_8997.png 1280w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<code></code>
<h6>Finding Family</h6>
It was Lynn who kicked off the discussion by greeting 23andMe employees with an enormous smile. She explained that as an adoptee who knew almost nothing about her <a href="https://www.23andme.com/dna-health-ancestry">health and ancestral background</a>, every detail in her health and ancestry reports thrilled her. But nothing compared to the feeling of shock when she logged into her 23andMe account and saw the words, “predicted niece” written on top of a new message. It was her first connection to her birth family.
Lynn’s next few months felt like a dream as her niece told her about her birth family for the first time. This culminated with her meeting her eight brothers and sisters, and even more extended relatives. You could hear the love in her voice as she described her new family and teared up while sharing a touching video showing the first time she met them.
Lynn, who’s now in constant contact with her siblings, feels as if she’s grown up with them her whole life saying:
“What’s changed for me is that my husband and I now have this massive, loving &#8211; I can’t tell you how loving they all are &#8211; family.”

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="551" height="1024" src="https://blogcms.23andme.com/wp-content/uploads/2020/12/Jason-Payne-e1608065570172-551x1024.jpeg" alt="" class="wp-image-28682" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/Jason-Payne-e1608065570172-551x1024.jpeg 551w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Jason-Payne-e1608065570172-161x300.jpeg 161w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Jason-Payne-e1608065570172-768x1427.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Jason-Payne-e1608065570172-473x880.jpeg 473w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Jason-Payne-e1608065570172-635x1180.jpeg 635w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Jason-Payne-e1608065570172.jpeg 1188w" sizes="auto, (max-width: 551px) 100vw, 551px" /></figure>
 
<h6>Finding a Birth Father</h6>
Like Lynn, Jason, a 24-year-old from California, found family on 23andMe. But Jason described something different. He said for him growing up without a father, left him with a feeling of emptiness.
When he first used 23andMe he said he initially was disappointed because he didn’t see any close matches listed on his DNA Relatives. That changed within a month of first opening his reports when Jason received an email from a woman who said that, according to 23andMe, she was his aunt!
Jason laughed as he explained, with admiration, the impressive online sleuthing she navigated in finding him. Together they worked out the identity of his father.
During the panel discussion at 23andMe Jason proudly shared photographs of his first meeting with his father. He said they both are excited to build a  relationship. The impact of making this connection was profound, Jason said.
“I feel like I’m now really me, the best version of myself and I’m complete.,” he said, “I feel like I can take on anything.”

 <figure class="wp-block-image size-large is-style-default"><img loading="lazy" decoding="async" width="1024" height="604" src="https://blogcms.23andme.com/wp-content/uploads/2020/12/Katelyn-Kimerbly-1024x604.jpg" alt="" class="wp-image-28690" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/Katelyn-Kimerbly-1024x604.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Katelyn-Kimerbly-300x177.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Katelyn-Kimerbly-768x453.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Katelyn-Kimerbly-880x519.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Katelyn-Kimerbly-1180x696.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Katelyn-Kimerbly.jpg 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
 
<h6>Finding the Silver Lining</h6>
Kimberly, the third customer on 23andMe’s panel, echoed the feelings of both Jason and Lynn when she expressed the sense of gratitude she had at finding relatives.
Kimberly was adopted from Korea to a small family living in Colorado. She didn’t know anything about her birth parents in Korea and said when she tested with 23andMe she was hopeful to learn something but didn’t have high expectations of finding relatives.  That might explain why she was absolutely shocked when she saw a predicted half-sister at the top of her DNA Relatives list.
Kimberly described feeling a roller-coaster of emotions as she reached out to her newfound sister, and then waited three days for a response.
Her sister, Katelyn, who was also adopted shared photographs of her parents and grandparents from Korea. Katelyn had previously connected with them through her adoption agency.  She then tried to help Kimberly find her own place in the family.
Katelyn’s investigation ended with life-changing answers, which she revealed to Kimberly on a phone call. After asking Kimberly to sit down, Katelyn told her that she wasn’t Kimberly’s half-sister, but Kimberly’s niece. More, the people in the photographs Katelyn had previously shared were her siblings and parents who had been looking for Kimberly for over 30 years.
Kimberly described feeling overcome with emotions during her first Facetime conversation with her family in Korea. Today with the help of Google Translate and a friend who speaks Korean, Kimberly said she has been able to continue building her relationship with her large Korean family. She also told us she’s become incredibly close to Katelyn, her niece and initial 23andMe match, who feels more like a sister she’s known her entire life than a newly discovered niece. Kimberly concluded her story saying:
“This is certainly my silver lining in this dark cloud of a global pandemic.”

23andMe Employees Hear from Customers 

In July, 23andMe launched a large-scale study of <img loading="lazy" decoding="async" class="alignright wp-image-28381 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/08/IPF-300x246.png" alt="Illustration for Idiopathic Pulmonary Fibrosis" width="300" height="246" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/08/IPF-300x246.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/08/IPF.png 643w" sizes="auto, (max-width: 300px) 100vw, 300px" />
23andMe currently has more than 4,000 people with IPF participating in research, making this one of the largest genetic studies of the condition to date. Currently, there is no cure for IPF. Our researchers are already generating novel insights into this uncommon but debilitating condition, including a possible link to increased risk for COVID-19. <a id="f1" href="#a1">[1]</a>

<h2>A Rare Condition</h2>
Idiopathic pulmonary fibrosis (IPF) is a rare condition [2] that affects approximately 100,000 people in the United States, or less than .05 percent of the population. Such a low prevalence of IPF makes it challenging to find enough people with the condition to participate in research, making studying the disease to understand its causes and prognosis difficult.
<h2>IPF Risk Factors</h2>
The risk of IPF is thought to be partly influenced by genetics. For example, a variant in the promoter of the MUC5B gene may predispose its carriers to chronic inflammation — and eventually to IPF — by reducing the clearance of harmful substances such as cigarette smoke.[3]
However, known genetic variants are not likely to fully explain who develops IPF or why. Through our <a href="https://blog.23andme.com/research-communities/ipf/">study</a>,[4] we hope to find novel risk factors for manifesting IPF symptoms within and beyond the genome. Previous studies suggested that environmental factors, including infections with certain viruses (e.g., the Epstein-Barr virus causing mononucleosis),[5] smoking, or occupational exposures [6] may also contribute to IPF risk. Other studies have linked IPF to acid reflux disease, postulating that stomach acid may get aspirated into the lungs and cause characteristic scarring.
<h6>IPF and COVID-19 Risk</h6>
There is strong evidence that suggests individuals with lung conditions such as IPF are at higher risk for COVID-19 and its complications.[7] Additionally, IPF and severe COVID-19 share a set of risk factors. For example, men are at higher risk for both COVID-19 and IPF, so too are older adults. Certain underlying conditions, such as those affecting the cardiovascular system, also put one at higher risk for IPF and COVID-19.
Because IPF is a rare condition, we did not have enough data to investigate the connection between IPF and COVID-19 in depth. We did, however, inquire whether individuals diagnosed with IPF are more likely to report taking protective measures such as physical distancing during the current pandemic.
Early in the pandemic, we asked 23andMe research <a href="https://blog.23andme.com/23andme-research/social-distancing-and-covid-19/">participants</a> whether they practiced social distancing or avoiding crowds.  We found a strong correlation, suggesting individuals with an IPF diagnosis were more likely to avoid public gatherings (OR= 1.87, P-value=1.74e-5). The correlation held when adjusted for age, sex, essential worker status, education, urban vs. rural residence, and measurement timing. Associations with the two other measures of physical distancing — keeping distance from others and avoiding public places — were not statistically significant.
<h2>IPF Insights </h2>
In addition to COVID-19 insights, our data from more than 4,000 participants in the 23andMe database helps to corroborate some of the earlier observations and offer new insights.
For example, we observed a strong correlation between having IPF and gastrointestinal reflux (odds ratio (OR)=2.89, P-value=1.82e-184). We also saw a weaker correlation between IPF and a history of mononucleosis (OR=1.45, P-value=0.0002). Individuals with IPF were also more likely to report more smoking throughout their lifetime (OR=1.26, P-value=1.33e-6). All of our estimates were adjusted for age, sex, and ancestry.
Although the causes of IPF are not well understood, the data clearly show the impact the condition has on patients’ lives. Among those participating in the 23andMe IPF study and in the 23andMe database, having IPF is strongly associated with depression, anxiety, and decreased quality of life (depression, OR=3.34, P-value=1.01e-29, and anxiety, OR=1.21, P-value=9.02e-81).
Our participants reported sleep disturbances (OR=2.24, P-value=1.13e-26), shortness of breath (OR=6.09, P-value=5.68e-115), and migraines (OR=3.57, P-value=1.93e-8). We also saw strong associations between IPF and allergy symptoms, which is consistent with previous reports. However, our data do not allow us to disentangle the cause-and-effect relationship between the two. The top associations with IPF in our database are summarized in Figure 1.
<div id="attachment_28664" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28664" class="wp-image-28664 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/12/Figure-1-Figure-1-Environment-wide-association-study-of-IPF-300x243.png" alt="A graphic showing the top environmental wide associations with IPF" width="300" height="243" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-1-Figure-1-Environment-wide-association-study-of-IPF-300x243.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-1-Figure-1-Environment-wide-association-study-of-IPF.png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 1: Environment-wide association study of IPF in the 23andMe customer population. Top IPF-associated factors are listed on the left, with the number of customers who provided information on each factor in parentheses. The estimates of association are presented with error bars on the right side.</div>
<footer class="footnotes"></footer>
Additionally, we looked at gastrointestinal distress symptoms that commonly accompany medications taken by IPF patients, i.e. pirfenidone, nintedanib, and N-acetylcysteine. We observed a significant association between IPF diagnosis and irritable bowel symptoms, adjusted for age, sex, and race/ethnicity (OR=1.90, P-value&lt;1.00e-16). Upon additional adjustment for medication use, the association lost its statistical significance (OR= 1.50-1.53 depending on medication, P-values&gt;0.05), suggesting that the observed correlation between IPF and gastrointestinal symptoms was strongly mediated by medication use.
<h2>IPF Demographics in the 23andMe Database</h2>
From a demographic standpoint, our study population is consistent with the current understanding of IPF epidemiology. The prevalence of IPF strongly increases with age (Figure 2), and there is evidence that the aging process accelerates this disease&#8217;s pathogenesis. [8]
Although past reports indicate that men are far more affected by IPF than women, in our data set, the prevalence of IPF among men only slightly exceeded that among women (7.4 cases per 10,000 men vs. 7.0 cases per 10,000 women). However, it is believed that the previously reported increase in risk among men may be attributed to historical smoking patterns rather than underlying biological differences, and is likely to diminish as smoking rates drop. The diversity of our customer cohort enabled us to also consider IPF patterns by race/ethnic group. We observed the highest prevalence (7.8 cases per 10,000 individuals) among individuals of European descent, followed by African Americans (6.7 cases per 10,000 individuals). Individuals of East Asian descent had the lowest prevalence of IPF (2.4 cases per 10,000 individuals).
<div id="attachment_28666" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28666" class="wp-image-28666 size-medium" src="http://35.88.189.111/wp-content/uploads/2020/12/Figure-2.-Prevalence-of-IPF-in-the-23andMe-data-set-by-age-group.-300x288.png" alt="" width="300" height="288" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-2.-Prevalence-of-IPF-in-the-23andMe-data-set-by-age-group.-300x288.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-2.-Prevalence-of-IPF-in-the-23andMe-data-set-by-age-group..png 512w" sizes="auto, (max-width: 300px) 100vw, 300px" />Figure 2. Prevalence of IPF in the 23andMe data set by age group.</div>
Our study included IPF patients from all 50 U.S. States (Figure 3). The observed geographic patterns reflected the effects of age (i.e. states with an older population, like Arizona and Florida, had a higher prevalence of IPF) as well as occupational exposures&#8211; e.g. mining in West Virginia and New Mexico.
With our powerful data collection and analysis platform, we are just beginning to understand IPF risk and disease history. We appreciate any new data from our customers as it helps us get closer to finding new effective treatments for this debilitating condition.
<div id="attachment_28665" style="width: 522px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-28665" class="wp-image-28665 size-full" src="http://35.88.189.111/wp-content/uploads/2020/12/Figure-3.-The-geographic-distribution-of-IPF-prevalence-among-23andMe-customers-by-state..png" alt="" width="512" height="330" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-3.-The-geographic-distribution-of-IPF-prevalence-among-23andMe-customers-by-state..png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/12/Figure-3.-The-geographic-distribution-of-IPF-prevalence-among-23andMe-customers-by-state.-300x193.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" />Figure 3. The geographic distribution of IPF prevalence among 23andMe customers by state.[9]</div>Our efforts to recruit participants with IPF to our study and expand upon these findings are ongoing. Learn more <a href="https://www.23andme.com/idiopathic-pulmonary-fibrosis/">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> P.M. George, A.U. Wells, R.G. Jenkins <a href="https://www.thelancet.com/journals/lanres/article/PIIS2213-2600(20)30225-3/fulltext">&#8220;Pulmonary fibrosis and COVID-19: The potential role for antifibrotic therapy&#8221;</a> Lancet Respir Med, 8 (2020), pp. 807-815</footer>
<footer class="footnotes"><code style="display: none;"></code> <a id="f2" href="#a2">[2]</a> <a href="https://medlineplus.gov/genetics/condition/idiopathic-pulmonary-fibrosis/#statistics">&#8220;Idiopathic Pulmonary Fibrosis&#8221;</a> MedlinePlus, US National Library of Medicine</footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a href="#a3">[3]</a>  Mahida R, Turner <a href="https://thorax.bmj.com/content/68/5/401">&#8220;MUC5B: a good target for future therapy in pulmonary fibrosis?&#8221;</a> BMJ:Thorax 2013;68:401.</footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f4" href="#a4">[4]</a> <a href="https://www.blf.org.uk/support-for-you/idiopathic-pulmonary-fibrosis-ipf/causes">&#8220;Causes of IPF&#8221;</a> British Lung Foundation  </footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a href="#a5">[5]</a> Ibid.</footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f6" href="#a6">[6]</a> <a href="https://www.nhs.uk/conditions/idiopathic-pulmonary-fibrosis/">&#8220;Overview Idiopathic Pulmonary Fibrosis&#8221;</a> National Health Service, UK </footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f7" href="#a7">[7]</a> P.M. George, A.U. Wells, R.G. Jenkins <a href="https://www.thelancet.com/journals/lanres/article/PIIS2213-2600(20)30225-3/fulltext">&#8220;Pulmonary fibrosis and COVID-19: The potential role for antifibrotic therapy&#8221;</a> Lancet Respir Med, 8 (2020), pp. 807-815</footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f8" href="#a8">[8]</a> Ley, Brett, and Harold R Collard. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848422/">“Epidemiology of idiopathic pulmonary fibrosis.”</a> Clinical epidemiology vol. 5 483-92. 25 Nov. 2013, doi:10.2147/CLEP.S54815</footer>
<footer class="footnotes"><code style="display: none;"> </code> 
<a id="f9" href="#a9">[9]</a> Mahida R, Turner <a href="https://thorax.bmj.com/content/68/5/401">&#8220;MUC5B: a good target for future therapy in pulmonary fibrosis?&#8221;</a> BMJ:Thorax 2013;68:401.</footer>
<footer class="footnotes"><code style="display: none;"> </code> 
[/vc_row]</footer>

Insights from 23andMe’s Study of Idiopathic Pulmonary Fibrosis

By Eli Chanoff, 23andMe Research Associate
Parkinson’s disease (PD) has been a central focus of 23andMe’s research since our company’s early years.
Over more than a decade, we have grown a community of tens of thousands of individuals, with and without Parkinson’s, who are committed to making a difference through research. With this community, 23andMe researchers have contributed to more than <a href="https://www.23andme.com/publications/">20 papers</a> offering new insights into the disease. As a result, we are in a unique position to advance our understanding of this disease and, in particular, to investigate genetics&#8217; role in both Parkinson’s disease risk and progression.
<h2>LRRK2 G2019S</h2>
The G2019S variant in the LRRK2 gene is associated with a significantly increased risk of developing Parkinson’s disease. 23andMe launched the Parkinson’s Impact Project (PIP) in 2018 to learn about the experience of people who carry the LRRK2 G2019S variant. The project consists of a comprehensive baseline survey and shorter quarterly follow-up sessions completed by consented research participants who are eligible carriers with and without a diagnosis of PD. The baseline survey was also completed by a large group of consented, eligible research participants without the G2019S variant who were matched to the carriers based on age and sex. 
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-22635" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" />Less than half of individuals with one copy of the variant develop Parkinson’s disease. Understanding why some carriers develop the disease while others don’t could offer key insights into novel approaches to slowing or stopping disease progression.
In addition, since a higher portion of the carrier population is at risk of being diagnosed with PD, it’s safe to assume that the cohort will also have an increased proportion of individuals with early-stage (prodromal) disease but who have not yet been diagnosed. Therefore, traits enriched in the carrier cohort relative to matched controls may represent early warning signs of Parkinson’s disease. However, these traits could also result from the G2019S mutation entirely unrelated to PD. Follow-up analyses are needed to distinguish between findings due to simply being an LRRK2 G2019S carrier and those due to having early-stage disease.
Although this is very much a work in progress, we strongly believe it is important and appropriate for us to share preliminary data with those participating in the study and the broader community. Below, we review a few of our initial results from the analysis of the baseline survey data.
<h2>Our Findings</h2>
Of those surveyed, 16 percent of G2019S carriers and 2.6 percent of non-carriers reported a diagnosis of Parkinson’s disease. We have separated our cases and controls into those with and without the G2019S variant–regardless of Parkinson’s status–to precisely measure the association between this genetic variant and a set of Parkinson-related phenotypes.
Phenotypes can refer to traits, clinical symptoms, environmental exposures, and comorbidities in this context. When considering the link between any phenotype and Parkinson’s, it is important to remember that a phenotype could be caused by PD, could be a risk factor for PD, or could be an early warning sign of PD. Symptoms are a subset of phenotypes and are distinct from other phenotypes–even physiological ones–because of their use in a clinical setting.
Below is some of the data we gathered from the PIP baseline survey. Please note that presenting with any of these phenotypes does not mean having Parkinson’s disease. Our services are not meant to diagnose or treat any disease. Please contact your doctor or a <a href="https://www.michaeljfox.org/news/movement-disorder-specialists">movement disorder specialist</a> if you want to be evaluated for Parkinson’s.
<h2>Motor Findings</h2>
Motor symptoms, such as tremors, stiff or slow movements, impaired posture or balance, and rigidity, are the characteristics most commonly used to diagnose Parkinson’s disease. While other motor and non-motor phenotypes are also common, these canonical motor symptoms remain more widely studied and are often what first comes to mind when people think about PD.
The baseline survey asked respondents about a series of motor phenotypes derived from the commonly used MDS-UPDRS rating scale, a few of which are included below. This chart shows the percentage of G2019S carriers and non-carriers who reported experiencing trembling or shaking in any part of their body, changes in handwriting, gait, or stooping posture. Recall that both carriers and non-carriers may or may not have a diagnosis of Parkinson’s disease.
These data show that some motor phenotypes previously associated with non-genetic Parkinson’s disease, were reported more frequently by G2019S carriers than non-carriers. While more analysis is needed, early results support the hypothesis that carriers are at increased risk of experiencing these symptoms based on their genetics.
<h2>Non-motor Phenotypes</h2>
In addition to motor symptoms, several non-motor phenotypes have been linked to Parkinson’s disease. However, many of these, such as constipation and cognitive changes, also occur in non-PD populations, and PD also increases in frequency with age, making the selection of appropriate controls very important.
The first chart below shows results from our survey for a few non-motor PD phenotypes. This chart shows the percentage of carriers and non-carriers who reported having trouble concentrating on things, like reading the newspaper or watching television, or who felt down, depressed, or hopeless on at least half of the days in the previous two weeks. It also includes those who reported having fewer than three bowel movements in a typical week.
These data do not clearly show a difference in the risk of developing certain non-motor phenotypes between carriers and non-carriers.
Our survey also asks for additional pieces of participants’ health histories to assess possible links between other health conditions and Parkinson’s disease. Finding an association between PD and another condition may suggest similarities between the biological pathways underlying either disease. Establishing these associations also helps us understand the significance of different PD risk factors.
In this second chart, we show results for a few conditions that are thought to have some relationship with PD. It shows the percentage of carriers and non-carriers diagnosed with or treated for restless leg syndrome, head injury or concussion, and allergies.
Interestingly, these data suggest that having the LRRK2 G2019S variant may increase the risk of having allergies. A previous 23andMe publication titled <a href="https://www.nature.com/articles/s41531-019-0077-5">The Parkinson’s phenome–traits associated with Parkinson’s disease in a broadly phenotyped cohort</a> found a link between seasonal allergies and PD, suggesting a possible similarity in the immune system’s role in both conditions. Our new results support that possibility.
<h2>What’s Next</h2>
The data provided by the respondents to this survey serve as an important first step toward measuring disease progression and potentially identifying clinically useful early signs of PD in LRRK2 G2019S carriers. By participating in our surveys, 23andMe customers fill in the gaps in our knowledge and provide a clearer picture of how this disease manifests.
We are excited to continue this research and are grateful for the many consented research participants who make it possible. As our collection of phenotypic data grows, we aim to share results from the Parkinson’s Impact Project.

Preliminary Results from the Parkinson’s Impact Baseline Survey

Even with promising <img loading="lazy" decoding="async" class="alignright wp-image-29418 size-larger" src="http://35.88.189.111/wp-content/uploads/2021/12/COVID-Image-880x410.png" alt="" width="880" height="410" srcset="https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-880x410.png 880w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-300x140.png 300w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-768x358.png 768w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-1024x477.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image-1180x550.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2021/12/COVID-Image.png 1394w" sizes="auto, (max-width: 880px) 100vw, 880px" />
As the World Health Organization leaders<a href="https://www.reuters.com/article/health-coronavirus/wrapup-1-europe-must-grit-our-teeth-on-covid-19-as-vaccine-euphoria-fades-idUSL1N2HY1Q0"> said recently</a>: &#8220;We may be tired of COVID-19, but it is not tired of us.&#8221;
To help our customers and others during this next phase in the pandemic, 23andMe wanted to remind readers of its <a href="https://you.23andme.com/covid19/">COVID-19 Information Center</a>. To create this resource, our scientists culled through data from the US Centers for Disease Control (CDC). We also condensed data from our own COVID-19 research study looking at genetic differences in both susceptibility and severity of the disease. The site includes data from both sources and offers people a place to learn more about the virus. It also highlights conditions that carry added risks, and actions you can take to lessen your risk.
<h6>Growing Numbers</h6>
With the numbers and rate of infections continuing to climb this fall, taking preventative actions and understanding risk is even more critical than ever. It&#8217;s sobering to note that in just nine months, the number of confirmed cases in the United States went from one to more than 10 million.
Beyond the stunning trajectory in the rate of infections, the numbers also illustrate that the virus hits each person differently. The virus can be deadly for some.  Projections estimate that deaths from COVID in the U.S. will <a href="https://covid19.healthdata.org/united-states-of-america?view=total-deaths&amp;tab=trend">exceed 300,000 by the end of 2020</a>. For many others, infections will mean hospitalization, or it may result in on-going health issues. But for the majority of those who are infected, the effects may be relatively mild.
<h6>Differences in Susceptibility and Severity</h6>
A need to understand why that is, why the virus hits some so much harder than others, helped drive <a href="https://you.23andme.com/covid19-study/">23andMe&#8217;s COVID-19 Study</a>. We learned a lot. That genetics — specifically blood type — might play a role in the illness&#8217;s susceptibility and severity. We <a href="https://blog.23andme.com/23andme-research/23andme-covid-study-published/">published our findings</a> in September and shared them with other researchers worldwide looking for new treatments for the virus.
But we also know that other non-genetic factors also play a significant role, including age and underlying chronic health conditions. We included some of this data in our study. For example, the data shows that underlying chronic health conditions like obesity and type 2 diabetes significantly increased the risk for hospitalization for COVID-19. Simply being overweight increased the risk for hospitalization by about 34 percent over those with average body mass index among those participating in our study.
<h6>Other Underlying Chronic Health Conditions</h6>
In our COVID-19 Information Center, we used preliminary data from the Centers for Disease Control. The information center gives people a way to learn how chronic health conditions might add to their hospitalization risk. (Editor’s Note: This data was from early in the pandemic, and the hospitalization rates have changed since then.)
For example, people with COVID-19 who also have chronic renal disease were almost three times as likely to be hospitalized as others with the virus, according to the CDC data. About three-quarters of patients with the virus and with chronic renal disease were admitted to the hospital. This compares to about 23 percent of all patients with COVID-19 in the study. More than a quarter, (28 percent) of those with COVID-19 and chronic renal disease were admitted to the ICU. This is compared to 7 percent of all COVID-19 patients.
The COVID-19 Information Center also looks at how smoking may increase the risk of hospitalization for those infected. Current or former smokers with COVID were more likely to wind up in the hospital, according to the data. About 43 percent of current and former smokers with the virus required hospitalization and 15 percent were admitted to the ICU.
Those interested in learning more about these and other risk factors can find the COVID-19 Information Center<a href="https://you.23andme.com/covid19/"> here</a>. You can learn more about 23andMe’s COVID-19 Study<a href="https://you.23andme.com/covid19-study/"> here</a>.
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A logo for 23andMe's COVID-19 Research Study

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