By Amanda McCorquodale
When I ordered my 23andMe kit, I thought genetic health information was simply another version of family health history gathered by doctors at every wellness visit. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2016/09/Email-Icon.jpg" alt="" class="alignright wp-image-24279" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2016/09/Email-Icon.jpg 168w, https://blogcms.23andme.com/wp-content/uploads/2016/09/Email-Icon-150x150.jpg 150w" sizes="auto, (max-width: 300px) 100vw, 300px" />
&nbsp;
<h6>My Results Are In </h6>
Yet when the email arrived indicating that my results were ready, I was suddenly terrified to read them. 
&nbsp;
After all, learning that your body may have a hidden risk is tough to stomach. Heck, even James Watson, one of the scientists who discovered the double-helix structure of DNA, refused to find out whether he carried the genetic variant that would put him at a higher risk for late-onset Alzheimer’s disease. 

<h6>Do I Want to Know?</h6>
23andMe makes sure to put certain health results —the report that looks at your potential risk for late-onset Alzheimer&#8217;s disease for instance — behind many locked doors, so to speak, giving users the option to open them or keep them closed if they wish. Even if you decide to open these locked reports, 23andMe requires you to go through a tutorial to ensure you understand the reports before you open them. 
<div id="attachment_27955" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27955" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/mutyh-300x267.png" alt="" class="wp-image-27955 size-medium" width="300" height="267" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/mutyh-300x267.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/01/mutyh-768x684.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/01/mutyh-1024x913.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/01/mutyh-880x784.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/01/mutyh-1180x1052.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/01/mutyh.png 1600w" sizes="auto, (max-width: 300px) 100vw, 300px" />There is an additional opt-in process for viewing four of the Genetic Health Risk reports.</div>
Genetics is not deterministic, and 23andMe doesn’t diagnose anything, I reminded myself. They are pretty clear that even if you have a genetic variant that puts you at a higher risk for certain conditions, it’s only one of many factors that could lead to developing the condition or disease. Often, the genetic test only identifies a small set of variants associated with the disease – so even if no variant is detected, you still may be at some genetic risk for the condition. 
&nbsp;
<h6>Information About Me</h6>
23andMe has more than a dozen different reports on Health Predispositions, including genetic health risk reports. You have to opt-into viewing those reports. There are also four of the reports — the Late-Onset Alzheimer’s Disease Genetic Health Risk report*, the genetic health risk report on Parkinson’s Disease,* the BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report*, and the MUTYH-associated Polyposis Genetic Health Risk report* — that require an additional opt-in to unlock those results. Before doing that 23andMe has you review a tutorial, to ensure you carefully consider whether or not you actually want to see the results. After reviewing the tutorial, I decided to unlock those reports and face my genetic health information head-on.
&nbsp;
I learned that I have three genetic variants that may influence my chances of <a href="https://www.23andme.com/dna-health-ancestry/">developing certain health conditions</a>. I have a slightly increased risk for age-related macular degeneration (AMD).* I was not surprised as I knew of relatives who had developed this late in life, but I was disappointed to learn I had inherited this genetic predisposition to vision loss. 
&nbsp;
The results put my genetic risk in perspective, however. There are things I can do to decrease the chances of developing AMD. I learned that making changes to my diet, and other lifestyle choices like not smoking play a major factor in my overall risk. 
<h6>Mitigating Risks</h6>
My risk for developing AMD is also something I could pass onto my kids, but knowing about it now allows me and any of my family to make lifestyle changes that could help mitigate those risks over time. 
&nbsp;
My results also revealed that based on my genetics I have about a 35 percent chance of developing <a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/">type 2 diabetes</a> at some point in the next 40 years, which is considered a typical likelihood for someone of my ethnic background. Having developed gestational diabetes twice myself and knowing multiple family members with diabetes, I was surprised that my genetic likelihood wasn’t higher.
&nbsp;
More surprising is that I carry one of the two genetic variants associated with <a href="https://www.23andme.com/topics/health-predispositions/alpha-1-antitrypsin-deficiency/">alpha-1 antitrypsin deficiency</a>, a genetic condition I had never heard of that can lead to lung and liver disease.* According to my results, having just one of the variants is not associated with an increased risk. Yet, I wondered if having one variant could impact my health at all, so I made a note to ask my physician at my upcoming physical.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/SERPINA1-300x173.jpg" alt="" class="alignright size-medium wp-image-27974" width="300" height="173" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/SERPINA1-300x173.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/01/SERPINA1-768x444.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/01/SERPINA1-1024x592.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/01/SERPINA1-880x509.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2020/01/SERPINA1-1180x682.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
&nbsp;
Looking at these different reports, I learned that I can take simple actions to mitigate my chances of developing these conditions. Genetics is important but often a small part of my overall health. 
&nbsp;
The results also put my long-term wellness in focus, and I found I was that much more motivated to pursue healthy habits such as eating healthy, getting enough sleep and exercise regularly.  
You can read the first post on this three-part series <a href="https://blog.23andme.com/23andme-and-you/23andme-how-to/taking-the-leap-into-my-dna-part-i/">here</a>.
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.
*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet US FDA requirements for genetic health risks and the 23andMe Type 2 Diabetes health predisposition report which is based on 23andMe research and has not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. 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, the health of your fetus, or your newborn child&#8217;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. Warnings &amp; Limitations: The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. The MUTYH-Associated Polyposis Genetic Health Risk Report is indicated for reporting the Y179C and G396D variants in the MUTYH gene and an increased risk for colorectal cancer. The two variants included in this report are most common in people of Northern European descent. These reports do not include variants in other genes linked to hereditary cancers and the absence of variants included in these reports do not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding other genetic health risk reports and carrier status reports, visit  <a href="https://www.23andme.com/test-info/">https://www.23andme.com/test-info</a>.

Amanda McCorquodale

Taking a Leap Into My DNA: Part II

By Andrew Todhunter
&nbsp;
Thomas Johnson was curious. How much Native American ancestry did he have? A software developer and former US Army medic from Stockton, California, he grew up in the northwest corner of Indiana. <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/02/IMG_1529-scaled-e1580857298484-300x258.jpg" alt="" class="alignright wp-image-27948 size-medium" width="300" height="258" />

“Where I grew up, there’s a belief that everyone from that part of the country has some percentage of Native American ancestry,” he said. 

Born in 1971, Thomas grew up with a single mom and never knew his biological father. Whenever he asked his mother about that side of the family, he got nowhere. 

“I thought this was a mystery that I’d never solve,” he said. 
<h6>A DNA Relative Match</h6>
In January of 2017, he bought a 23andMe <a href="https://www.23andme.com/dna-ancestry/">DNA test kit</a>, mailed it in, and waited.  When he received the email that his reports were ready, Thomas logged in one afternoon at work. After opting in to <a href="https://www.23andme.com/dna-ancestry/">23andMe’s DNA Relatives</a> feature, he learned that his DNA had matched with a close genetic relative: Edwina Kimble. A name he’d never heard before. The test estimated that Edwina was his paternal grandmother. There at work, staring at the screen, Thomas started to cry. 

He immediately began to search for his grandmother online, and soon came upon her obituary. She had passed away less than two months before he submitted his DNA test, at age 94. 

After decades without answers, the timing stunned him. “I just missed her,” he said. 
<h6>Becoming a Baby Brother</h6>
He found the names of her six children in the obituary—one daughter and five sons. One of those men, he knew, must be his biological father. He soon found a cousin on his father’s side who shared a mutual friend. One connection led to another, and finally, he reached his grandmother’s descendants. 

“The brothers knew right away I was Tommy&#8217;s boy,” he said. “They knew he had dated my mother, and they welcomed me right into the family.”

Thomas learned that he had an older sister named Charnell, who is four years older than him. 

“She later told me she’d always wanted a baby brother,” he said. 
<h6>Connecting</h6>
Their father’s only children, Thomas and Charnell grew up in the same neighborhood. They went to the same private elementary school and the same high school, but the four-year age gap was just wide enough to keep them from overlapping. After he’d made contact, Thomas communicated almost daily with his family in Indiana. In their conversations and video chats, Charnell noticed that Thomas had the same laugh and many of the same mannerisms as their father, even though the two had never met.

“When I first called my Dad on the phone,” Thomas said, “we just laughed. Since then we’ve met in person&#8230; A few months ago, he called me ‘son’ for the first time.”

For her part, Charnell embraced her role as big sister. “She was all in my business about my love life,” Thomas said, laughing. “She was an only child and she told me, ‘I want nieces and nephews from you!’”
<h6>Getting Some Help Finding His Valentine</h6>
Charnell and their cousin Anita started matchmaking for Thomas remotely and set up a profile for him on a dating app for those seeking long-term relationships. At first, nothing came of it, but in July of 2017, he found Maria Vejar.
<div id="attachment_27951" style="width: 289px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27951" src="https://blog-api.23andme.com/wp-content/uploads/2020/02/IMG_1592-1-scaled-e1580857362382-279x300.jpg" alt="" class="wp-image-27951 size-medium" width="279" height="300" />Thomas gets down on his knee to ask Maria to marry him.</div>
Maria had a beautiful smile and they shared many interests, including family, faith, hiking, and the importance of helping others. Thomas reached out, and Maria responded. They communicated online for two weeks, then moved to conversations by phone. When they first met in person, said Thomas, everything felt right. They grew steadily closer, and Thomas proposed at a 23andMe event called DNA Day. They’ve set the date for November of 2020. 

“Maria is so giving,” said Thomas. “She’ll always do for others before she does for herself. I’ve never met anyone like her. She told me, ‘I haven’t known love like this, ever.’ And I feel the same way.” 

<h6>A Growing Family</h6>
Maria comes from a large, tight-knit family in California, and has two children of her own—20-year-old Samuel and 18-year-old Mariah. In his new life with Maria, Thomas is gaining another big family he never expected. 
<div id="attachment_27953" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27953" src="https://blog-api.23andme.com/wp-content/uploads/2020/02/IMG_1637-scaled-e1580857587951-300x261.jpg" alt="" class="wp-image-27953 size-medium" width="300" height="261" />Maria said yes.</div>
And the curiosity about his percentage of Native American ancestry, that led Thomas to take the DNA test in the first place? Those results came back too. He’s only a fraction Native American, at 1.7 percent, but he has a doting older sister and cousins and nieces and nephews and a father he thought he’d never find.

“I still can’t believe it,” he said. “I just became an uncle twice, and I have three godchildren. I have family birthdays all over my calendar. When I was younger, more family was the one thing I wanted most that I didn’t have. When I joined the military, they became my family. Later, the church became my family. Now I have real family.”

And here on Valentine’s Day, he and Maria have each other.

<a href="http://www.andrewtodhunter.com/about">Andrew Todhunter</a> is an award-winning writer, filmmaker, and lecturer at Stanford University. The author of three books, including the PEN USA Literary Award-Winning A Meal Observed, his journalism includes dozens of articles in publications such as National Geographic, The Atlantic, and The Wall Street Journal.

Andrew Todhunter

Thomas Finds Family, and then His Valentine

Five short stories about the genetic history of Western Europe — from the Celts to Charlemagne.



You probably have some Celtic ancestry (but don’t dig out your bagpipes just yet)



<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
<h6>Did you know?</h6>
<code style="display: none;"> 
</code><code style="display: none;"> 
</code><code style="display: none;"> 
</code><code style="display: none;"> 
</code><a href="https://you.23andme.com/reports/ancestry_composition/french_german/">French &amp; German</a> ancestry doesn’t only reflect ancestry from France or Germany. It also represents ancestry from one of the predominantly French or Germanic- speaking countries of Europe, including: Austria, Belgium, France, Germany, Luxembourg, The Netherlands, and Switzerland.
</div>



Near the dawn of European written history, Greek scholars recorded the existence of the Keltoi, or <a href="https://www.ancient.eu/celt/">Celts</a> — advanced Iron Age tribes with roots near the headwaters of the Rhine and Danube rivers in the Alps.



In the 19th century, finely wrought gold, bronze, and iron artifacts from an early Celtic society were discovered in the Austrian Alps. These artifacts hint at wealth and a facility with metalworking that may have aided in the rapid expansion of the Celts across Europe.



By the <a href="https://www.ancient.eu/celt/">3rd century BCE</a>, there were Celtic-speaking peoples from the British Isles to the Black Sea.&nbsp;



So, you probably inherited some Celtic-like DNA even if your family never lived in the British Isles, but it’s old&#8230;really old.



<figure class="wp-block-image aligncenter"><img loading="lazy" decoding="async" width="512" height="276" src="http://35.88.189.111/wp-content/uploads/2020/03/celtic-expansion.jpg" alt="Map of Celtic Origins in Europe" class="wp-image-28132" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/03/celtic-expansion.jpg 512w, https://blogcms.23andme.com/wp-content/uploads/2020/03/celtic-expansion-300x162.jpg 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>







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



<h6 class="wp-block-heading" id="h-when-europe-belonged-to-caesar">When Europe belonged to Caesar</h6>



After fending off frequent attacks from the Celtic tribes of Gaul (the heart of which is now France and Belgium), Julius Caesar and his Roman legions decided to remove this Celtic threat for good.&nbsp;



In 58 BCE, Roman troops led by Caesar began a series of devastating military campaigns to subjugate the Celtic tribes and secure the western bank of the Rhine River—a natural barrier against the restless Germanic tribes to the east. By 51 BCE, Gaul fell to Caesar.



Over the next 500 years, Latin became the lingua franca in Gaul, and Celtic languages found refuge along the Atlantic fringe of Europe.&nbsp;



Despite this massive cultural shift, genetic <a href="https://www.ncbi.nlm.nih.gov/pubmed/26387712">evidence</a> suggests the Romans from Rome didn’t leave much DNA behind in Gaul.&nbsp;



<figure class="wp-block-image alignright"><img loading="lazy" decoding="async" width="300" height="237" src="http://35.88.189.111/wp-content/uploads/2020/02/Roman-Empire-300x237.jpg" alt="" class="wp-image-27965" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/02/Roman-Empire-300x237.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/02/Roman-Empire.jpg 512w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



<h6 class="wp-block-heading" id="h-german-tribes-go-south">German tribes go South</h6>



Ever heard of “Francia”? The “Frankish Kingdom”? The “Franks”?&nbsp;



It’s fine if you haven’t, but you might have a genetic connection to them.



After the fall of the Western Roman Empire in 476 CE, the Franks — a federation of Germanic tribes led by Clovis I — wrested control of Gaul from the Romans and Visigoths, marking the founding of Francia (the Frankish Kingdom) and the beginning of the Merovingian Dynasty.&nbsp;



Germanic-speaking precursors to the Franks and other Germanic tribes are thought to have originated in southern Scandinavia over 3,000 years ago, expanding further and further south into formerly Celtic and Roman territory. Recent <a href="https://www.ncbi.nlm.nih.gov/pubmed/26387712">studies</a> found evidence that the widespread migrations of Germanic peoples between the 4th and 6th centuries (called the “Migration Period”) had a more significant impact on northwestern and central Europe’s DNA than did the expansion of the Roman Empire. 



<h6 class="wp-block-heading" id="h-"><img loading="lazy" decoding="async" class="aligncenter wp-image-27967 size-full" src="http://35.88.189.111/wp-content/uploads/2020/02/FrenchGerman.png" alt="" width="512" height="216" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/02/FrenchGerman.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/02/FrenchGerman-300x127.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></h6>



<h6 class="wp-block-heading" id="h-the-spirit-of-francia">The Spirit of Francia</h6>



<h2 class="wp-block-heading" id="h-did-you-know-nbsp">Did you know?&nbsp;</h2>



23andMe’s “French &amp; German” ancestry falls roughly within the historical bounds of the Frankish Kingdom—Francia—as it existed in the early 9th century under Charlemagne.



<figure class="wp-block-image aligncenter"><img loading="lazy" decoding="async" width="512" height="365" src="http://35.88.189.111/wp-content/uploads/2020/02/Francia.jpg" alt="" class="wp-image-27968" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/02/Francia.jpg 512w, https://blogcms.23andme.com/wp-content/uploads/2020/02/Francia-300x214.jpg 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>







And, speaking of Charlemagne&#8230;



<h2 class="wp-block-heading" id="h-how-you-could-be-descended-from-charlemagne-king-of-the-franks-nbsp">How you could be descended from Charlemagne, King of the Franks&nbsp;</h2>



<figure class="wp-block-image aligncenter"><img loading="lazy" decoding="async" width="512" height="216" src="http://35.88.189.111/wp-content/uploads/2020/02/Charlemagne.png" alt="" class="wp-image-27969" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/02/Charlemagne.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/02/Charlemagne-300x127.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
<h6>Fast Facts</h6>
• Approximately 1 million 23andMe customers have a majority French German Ancestry, while over 5 million customers possess at least 1 percent of this genetic heritage
• Today, Frenchand German Ancestry is widespread across central and western Europe, with particularly high concentrations near the Upper Rhine River, where France, Germany, and Switzerland converge.
• “French and German Ancestry is most prevalent among 23andMe customers from Switzerland, with an average of around 64 percent.
</div>



The authors of a recent <a href="https://www.ncbi.nlm.nih.gov/pubmed/23667324">study</a> estimated that every European who lived over 1,000 years ago — and left descendants — is very likely the ancestor of every ethnically European person alive today. And Charlemagne, King of the Franks, was particularly prolific, siring around 20 children.



Suppose you go far enough back in time. In that case, your pedigree is actually “collapsing” repeatedly, with many of your ancestors showing up on multiple branches of your family tree.



So, if you have European ancestry, you’re probably descended from Charlemagne.&nbsp;

23andMe Blog

23andMe Blog Team

What is French and German Ancestry?

As we celebrate <a href="https://blog.23andme.com/news/african-american-scientists/">Black History Month</a>, we want to raise awareness about some of the conditions 23andMe reports on that are more common in people of African descent. 
 
<h6>Sickle Cell Anemia<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Sickle-Cell-fact-452x586_x2-231x300.jpg" alt="" class="alignright wp-image-27924 size-medium" width="231" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Sickle-Cell-fact-452x586_x2-231x300.jpg 231w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Sickle-Cell-fact-452x586_x2-768x996.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Sickle-Cell-fact-452x586_x2-790x1024.jpg 790w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Sickle-Cell-fact-452x586_x2-679x880.jpg 679w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Sickle-Cell-fact-452x586_x2.jpg 904w" sizes="auto, (max-width: 231px) 100vw, 231px" /></h6>
About 1 in 13 African Americans have the genetic variant in the HBB gene that causes sickle cell anemia. Sickle cell anemia is characterized by anemia, episodes of pain, and frequent infections. Being a carrier does not mean you have the condition. A person must carry two variants in the HBB gene to develop this condition.
  
<h6>G6PD Deficiency</h6>
About 1 in 10 African American men have<a href="https://www.23andme.com/topics/health-predispositions/g6pd-deficiency/"> G6PD deficiency</a>. People with this condition usually don’t develop symptoms unless they are exposed to certain triggers, including certain food, medications or infections.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/G6PD-fact-452x586_x2-231x300.jpg" alt="" class="alignright wp-image-27925 size-medium" width="231" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/G6PD-fact-452x586_x2-231x300.jpg 231w, https://blogcms.23andme.com/wp-content/uploads/2020/01/G6PD-fact-452x586_x2-768x996.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2020/01/G6PD-fact-452x586_x2-790x1024.jpg 790w, https://blogcms.23andme.com/wp-content/uploads/2020/01/G6PD-fact-452x586_x2-679x880.jpg 679w, https://blogcms.23andme.com/wp-content/uploads/2020/01/G6PD-fact-452x586_x2.jpg 904w" sizes="auto, (max-width: 231px) 100vw, 231px" /> 
<h6>Hereditary Amyloidosis (TTR-Related)</h6>
It is estimated that about 1 in 28 African Americans carry a variant linked to <a href="https://blog.23andme.com/health-traits/a-new-23andme-genetic-health-risk-report-brings-to-light-underdiagnosed-condition/">TTR-related hereditary amyloidosis</a>. This little-known genetic condition is caused by the buildup of a protein called<a href="https://ghr.nlm.nih.gov/gene/TTR"> transthyretin</a> (TTR). This protein buildup can damage the nerves, the heart, and other parts of the body. Because the symptoms vary widely, the condition is often misdiagnosed.
<h6></h6>
<h6>Beta Thalassemia and Related Hemoglobinopathies</h6>
<a href="https://www.23andme.com/topics/carrier/beta-thalassemia/">Beta thalassemia</a> is a genetic disorder characterized by anemia and fatigue as well as bone deformities and organ problems. Among those who are most impacted are people of North African descent. 
&nbsp;
<a href="https://www.23andme.com/dna-health-ancestry/">23andMe Health + Ancestry Service</a> customers can learn more about these conditions by viewing their <a href="https://you.23andme.com/health/">health reports</a>.* <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/TTR-fact-452x586_x1-231x300.jpg" alt="" class="alignright wp-image-27926 size-medium" width="231" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/TTR-fact-452x586_x1-231x300.jpg 231w, https://blogcms.23andme.com/wp-content/uploads/2020/01/TTR-fact-452x586_x1.jpg 452w" sizes="auto, (max-width: 231px) 100vw, 231px" />
&nbsp;
African Americans continue to be underrepresented in genetic research, but 23andMe is working to change that with initiatives to improve the diversity in the science we do.  
 
Our mission has always been to help people access, understand and benefit from the human genome. We want to make sure that we&#8217;re doing that for all people. That means broadening the diversity and including populations that are not now well represented. 
&nbsp;
<div style="float: center; text-align: justified; width: 600px; background-color: #eee; padding: 15px; margin-left: 10px;">
<h6>Diversity in Research</h6>
 
For more than a decade now, 23andMe scientists have undertaken efforts to improve diversity in our research, particularly among African Americans and people of African descent. Some of those efforts include programs like our<a href="https://blog.23andme.com/news/announcements/roots-into-the-future/"> Roots Into the Future</a> study, the <a href="https://www.23andme.com/africa-project/">African Genetics Project</a>, and the recently completed <a href="https://blog.23andme.com/23andme-research/african-american-sequencing-project/">African American Sequencing Project</a>. 
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/AA-card-image-452x586_x4-150x150.jpg" alt="" class="alignright size-thumbnail wp-image-27922" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/AA-card-image-452x586_x4-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2020/01/AA-card-image-452x586_x4-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2020/01/AA-card-image-452x586_x4-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2020/01/AA-card-image-452x586_x4-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2020/01/AA-card-image-452x586_x4-980x980.jpg 980w" sizes="auto, (max-width: 150px) 100vw, 150px" />23andMe now has one of the largest, if not the largest, cohorts in the world of genotyped and phenotyped African Americans who have consented to participate in research. This offers incredible potential to make new findings relevant to people with African ancestry. It has already allowed our scientists to conduct genome-wide association studies specific to people with African ancestry into such things as <a href="https://link.springer.com/article/10.1007/s00439-017-1836-1">uterine fibroids</a> and <a href="https://www.nature.com/articles/s41588-018-0307-5">alcohol and tobacco use</a>. 
 
But we want to do more, so beyond the work, we and our collaborators have done, 23andMe is also working to improve research diversity more broadly.
 
Last year, we have made available the de-identified data from 23andMe&#8217;s African American Sequencing Project through the<a href="https://www.ncbi.nlm.nih.gov/"> National Center for Biotechnology Information’s</a> database of Genotypes and Phenotypes (dbGaP). Participants in this project were asked for an additional layer of consent beyond 23andMe’s normal research consent process. 
 
We’ve made great strides but we still have a long way to go. Learn more about 23andMe’s research <a href="https://www.23andme.com/research/">here.</a>
</div>
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. 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, the health of your fetus, or your newborn child&#8217;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, [visit  <a href="https://www.23andme.com/test-info/">https://www.23andme.com/test-info/]</a> [click <a href="https://www.23andme.com/test-info/">here</a>].

Raising Awareness

by Samantha Ancona Esselmann, Ph.D., product scientist at 23andMe
When 23andMe scientists added a “<a href="https://you.23andme.com/reports/ancestry_composition/filipino">Filipino</a>” population to our Ancestry Composition report two years ago, customers were excited to see their Filipino ancestry reflected in their results for the first time. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-27890" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Did-you-Know-Map-300x211.png" alt="" width="300" height="211" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Did-you-Know-Map-300x211.png 300w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Did-you-Know-Map-768x541.png 768w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Did-you-Know-Map-1024x721.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Did-you-Know-Map-880x620.png 880w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Did-you-Know-Map-1180x831.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Did-you-Know-Map.png 1440w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Only, there was a twist! Many customers with no known Filipino ancestors were getting 5 percent, 20 percent, even 50 percent or more of this ancestry, and were understandably confused.
In response to customer feedback, our team performed more analyses and confirmed that we were missing a big part of the story — or maybe a better way of saying it was that we were missing a big part of the human migration story.

It was true that people with the highest proportion of “Filipino” in their ancestry estimates were actually of Filipino descent (over 90 percent on average), but this so-called “Filipino” ancestry reached an average of 75 percent in customers from Samoa, 71 percent in Tonga, 68 percent in Guam, 18 percent in Hawaii, and even 34 percent among customers from Madagascar, off the southeastern coast of Africa.
<img loading="lazy" decoding="async" class="aligncenter wp-image-27891" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Filipinio-Ancestry-Map.png" alt="" width="600" height="304" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Filipinio-Ancestry-Map.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Filipinio-Ancestry-Map-300x152.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" />
Clearly, this update was not just identifying Filipino ancestry, but a shared genetic heritage that was spread across nearly two-thirds of the circumference of the globe.
Our ancestry scientists realized right away that this shared ancestry was a reflection of human migration and the major expansion of seafaring people who spoke Austronesian languages that began around 5,000 years ago near Taiwan and spread across a vast part of the world.
We renamed the population to “Filipino &amp; Austronesian,” and the population description was updated to shed light on this shared linguistic, genetic, and cultural history.
<img loading="lazy" decoding="async" class="aligncenter wp-image-27892" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Austronesian-Expansion-Map.png" alt="" width="600" height="275" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Austronesian-Expansion-Map.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Austronesian-Expansion-Map-300x138.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" />
Here are our favorite stories about the “Austronesian Expansion,” from out-of-this-world navigation techniques to the gut bacteria that hitched a ride across the sea.
<h6>The Final Frontier</h6>
Around 5,000 years ago, Austronesians began a millennia-long expansion into the Pacific from Taiwan. They carried their knowledge of navigation and farming more than halfway around the world. They expanded through the Philippines and Indonesia all the way to Hawaii in the east and Madagascar in the west. During this <a href="https://www.ncbi.nlm.nih.gov/pubmed/21074440">expansion</a>, the Austronesians mixed with people they met along their way, including the indigenous Filipinos, Papuans (whose ancestors are thought to have arrived over 50,000 years ago), and <a href="https://www.ncbi.nlm.nih.gov/pubmed/25137359">Southeast Asian</a> mainlanders.
Polynesian culture later emerged from Austronesian societies in Tonga and Samoa. It spread to the equatorial islands of the central Pacific — including French Polynesia — as recently as 1,000 years ago. Soon after, Polynesians settled the far-flung lands of Hawaii, Aotearoa (New Zealand), and Rapa Nui (Easter Island). This late, <a href="https://www.ncbi.nlm.nih.gov/pubmed/21187404">rapid settlement</a> is thought to explain the remarkable similarities between the cultures and languages of the remote Pacific.
<h6><img loading="lazy" decoding="async" class="aligncenter wp-image-27889" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Out-of-Taiwan-Map.png" alt="" width="600" height="360" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Out-of-Taiwan-Map.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Out-of-Taiwan-Map-300x180.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" /></h6>
<h6>Way-finders</h6>
Long before the European Age of Exploration, Polynesian voyagers were crossing thousands of miles of uncharted water, settling one uninhabited island after another. Almost all knowledge of traditional Polynesian navigation is lost to time, but their techniques likely included:
<ol>
<li>“<a href="https://doi.org/10.5670/oceanog.2009.52">Wave-piloting</a>,” which involves sensing the reflections and refractions of ocean swells off of distant islands.</li>
<li> Following birds or <a href="https://www.ncbi.nlm.nih.gov/pubmed/26857090">turtles</a> to land.</li>
<li> Spotting island-hugging bioluminescence.</li>
<li> Relying on memorized star maps as a guide — a skill highlighted in the 2016 animated film, Moana.</li>
</ol>
Only a handful of Pacific Islanders carry the traditional knowledge of wave piloting, but in 2006, researchers accompanied a Marshallese wave pilot on a journey between islands. To navigate the journey, the wave pilot relied only on his ability to read the ocean swells. In a test of the wave pilot’s skill, the researchers set the ship miles off-course while the navigator slept. But soon after he woke up, the wave pilot had the ship back on course, having correctly interpreted the pattern of waves reflecting off a nearby island.
<h6><img loading="lazy" decoding="async" class="aligncenter wp-image-27888" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Way-Finders.png" alt="" width="600" height="360" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Way-Finders.png 750w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Way-Finders-300x180.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" /></h6>
<h6></h6>
<h6>Language on the move</h6>
Before DNA shed light on the origins of Austronesians, <a href="https://www.ncbi.nlm.nih.gov/pubmed/19164742">studies of their languages</a> pointed to an Austronesian origin closely related to the indigenous people of Taiwan. A team of scientists in New Zealand built a database of simple words from 400 Austronesian languages, and by focusing on cognates (similar words that mean the same thing), the team was able to build a family tree of Austronesian languages — with indigenous Taiwanese Formosan languages at the root. Branching from there were the languages spoken in the Philippines, Indonesia, New Guinea, Fiji, and finally, the closely related Polynesian languages, such as Samoan, Maori, Tahitian, and Hawaiian.
This language tree mirrors the genetic relationships of a number of other living things found throughout the Pacific — from <a href="https://www.ncbi.nlm.nih.gov/pubmed/19164753">gut bacteria</a> to <a href="https://www.ncbi.nlm.nih.gov/pubmed/26499243">paper mulberry</a> plants (used to make barkcloth). Researchers believe these different organisms originated in Taiwan and hitched a ride across the Pacific with the Austronesian voyagers.
<img loading="lazy" decoding="async" class="aligncenter wp-image-27887" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Austronesian-Language-Tree.png" alt="" width="600" height="360" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Austronesian-Language-Tree.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Austronesian-Language-Tree-300x180.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" />
<h6>Melanesian Exchange</h6>
The ancestors of Melanesians — the indigenous inhabitants of Near Oceania — reached the islands of the western Pacific much earlier than the Austronesians. They arrived on these islands well over 50,000 years ago. Today this ancestry is common in populations from Papua New Guinea to Fiji, a distance spanning over 2,500 miles. But, the oldest human remains found on Vanuatu (an archipelago between New Guinea and Fiji) and on islands further East aren’t Melanesian. So when did the Melanesians reach Vanuatu and who was there before them?
A <a href="https://www.ncbi.nlm.nih.gov/pubmed/29501328">recent study</a> of ancient human remains from Vanuatu showed that Austronesian settlers first reached Vanuatu around 3,000 years ago. Soon after, people with Melanesian ancestry began to arrive. Today, even though <a href="https://www.ncbi.nlm.nih.gov/pubmed/29487365">Vanuatuans speak primarily Austronesian languages</a>, they have mostly Melanesian ancestry.
It seems that early Melanesian voyagers halted their eastward migration in the Solomon Islands. They only ventured further into the Pacific after a new wave of voyagers — the Austronesians — passed through the region to settle Vanuatu, Tonga, and other remote Pacific islands. Today, almost all populations in the remote Pacific have more than 25 percent Melanesian ancestry. This is despite initial settlement by Austronesians.
<h6><img loading="lazy" decoding="async" class="aligncenter wp-image-27886" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Vanatu-Ancestry-Timeline.png" alt="" width="600" height="360" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Vanatu-Ancestry-Timeline.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Vanatu-Ancestry-Timeline-300x180.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" /></h6>
<h6>Indonesian Melting Pot</h6>
Indonesia is genetically diverse. This is not particularly surprising for a 3,000-mile-wide nation made up of more than 17,000 islands.
Austronesian ancestry is <a href="https://www.ncbi.nlm.nih.gov/pubmed/25137359">found throughout Indonesia.</a> But where the inhabitants of the large western islands have strong genetic ties to the Southeast Asian mainland, the inhabitants of the islands east of Bali have very little.
The most likely scenario is that a western group of Austronesian voyagers mixed with people in southern Vietnam or the Malay Peninsula. This mixed population likely continued on to settle western Indonesia. Eastern Indonesia, on the other hand, is home to people with a combination of primarily<a href="https://www.ncbi.nlm.nih.gov/pubmed/22396590"> Austronesian and Melanesian</a> ancestry.
<h6><img loading="lazy" decoding="async" class="aligncenter wp-image-27885" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Migration-Heat-Map.png" alt="" width="600" height="360" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Migration-Heat-Map.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Migration-Heat-Map-300x180.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" /></h6>
<h6>The Malagasy Mystery</h6>
The Malagasy people of Madagascar speak an Austronesian language, but Madagascar is a world away from Southeast Asia. Malagasy people also have African ancestry. So who reached Madagascar first and where did they come from?
Although the African continent is much closer, there is cultural, genetic, <a href="https://www.ncbi.nlm.nih.gov/pubmed/27247383">archaeological</a>, and linguistic evidence pointing to an initial settlement of Madagascar by Austronesian voyagers between 1,200 and 1,500 years ago. This was followed by the arrival of Bantu speakers from southern East Africa.
Linguistic and <a href="https://www.ncbi.nlm.nih.gov/pubmed/15793703">genetic studies</a> showed that the Austronesian founders of Madagascar were most closely related to present-day groups living in central and eastern Indonesia (<a href="https://www.ncbi.nlm.nih.gov/pubmed/27381999">1</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/27188237">2</a>, <a href="https://www.ncbi.nlm.nih.gov/pubmed/25880430">3</a>). These studies also revealed that<a href="https://www.ncbi.nlm.nih.gov/pubmed/28716916"> African ancestry</a> is generally higher in Madagascar’s coastal lowlands. Austronesian ancestry reaches higher levels in the country’s central highlands.
<img loading="lazy" decoding="async" class="aligncenter wp-image-27884" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/Madagascar-Migration.png" alt="" width="600" height="360" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/Madagascar-Migration.png 512w, https://blogcms.23andme.com/wp-content/uploads/2020/01/Madagascar-Migration-300x180.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" />Customers can see these stories on the <a href="https://you.23andme.com/reports/ancestry_composition/filipino/">Filipino &amp; Austronesian Ancestry Detail Report</a> page. Not yet a customer, find out more about 23andMe’s Ancestry + Traits service <a href="https://www.23andme.com/dna-ancestry/">here</a>.

What is Austronesian ancestry?

Yunru Huang

Genes and Behaviors Associated with New Year’s Resolutions

The end of 2019 capped a decade of innovation in genetic research at 23andMe.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/12/Data-Viz-300x169.jpg" alt="" class="alignright size-medium wp-image-25916" width="300" height="169" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-300x169.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-768x432.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-1024x576.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-880x495.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz-1180x663.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2017/12/Data-Viz.jpg 1366w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Over the last ten years, 23andMe researchers have completed or collaborated on more than 150 published studies. The pace of that discovery, and the breadth of our research, has only grown over time. 
In the last year alone, 23andMe scientists have published more than 20 papers. These have covered a wide range of topics, including the genetics of certain <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30356-8">rare genetic conditions</a>, of <a href="https://science.sciencemag.org/content/365/6456/eaat7693.editor-summary">same-sex sexual behavior</a>, of BMI and <a href="https://science.sciencemag.org/content/365/6456/eaat7693.editor-summary">breast cancer</a>, and even gauging the attitudes and knowledge of <a href="https://www.mdpi.com/2075-4426/9/2/29">primary care physicians</a> on direct-to-consumer genetic testing.
In the last year, 23andMe has also undertaken some new and exciting collaborations that promise to incorporate new types of data into research.
We want to share with you some of that work with you. So here&#8217;s a look back at some of the research efforts and papers that stood out over the last year. 
<h6>Ongoing Collaborations</h6>
Early on, we understood the power of 23andMe&#8217;s research model and what has become the most significant database of its kind in the world. To maximize the potential of this great resource, we established our <a href="https://research.23andme.com/research-innovation-collaborations/">Research Innovations Collaboration Program</a>. This ensures that other qualified researchers will be able to use this aggregated de-identified information for important studies and enhance the impact of 23andMe&#8217;s research data.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2020/01/ear-300x199.jpg" alt="" class="alignright size-medium wp-image-27849" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2020/01/ear-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2020/01/ear.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />Among the projects we&#8217;re currently working on is one with Brigham and Women&#8217;s Hospital and the <a href="https://www.hearxgroup.com/blog/HEARX-GROUP-AND-23ANDME-LAUNCH-COLLABORATION-TO-STUDY-HEARING-LOSS.html">hearX Group</a>, a collaboration we launched late last year to study hearing loss using innovative online tools. Using an online hearing test and a survey specific to the study, 23andMe was able to recruit more than 100,000 to participate in the study quickly.
By combining an online test with a dedicated survey, this work is on track to become by far the most extensive genetic research of hearing loss ever. 
Working with the <a href="https://www.med.unc.edu/pgc/">Psychiatric Genomics Consortium</a> (PGC), 23andMe has expanded its study of major depressive disorder to include not just Europeans, but African Americans, Latinos, East Asians, South Asians, and people of Middle Eastern descent. This data will be used in combination with other data by the PGC as part of what is expected to be the largest multi-ethnic study of the genetics of depression. It&#8217;s a significant effort to ensure the genetic research is representative of diverse populations. 
<h6> Some Published Work<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/06/blog-post-2-300x157.png" alt="" class="alignright size-medium wp-image-27139" width="300" height="157" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/06/blog-post-2-300x157.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/06/blog-post-2-768x402.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/06/blog-post-2-1024x536.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/06/blog-post-2-880x461.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/06/blog-post-2-1180x618.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2019/06/blog-post-2.png 1200w" sizes="auto, (max-width: 300px) 100vw, 300px" /></h6>
Of all the work we did this year, our collaboration with a team of international researchers on <a href="https://science.sciencemag.org/content/365/6456/eaat7693">same-sex sexual behavior</a> garnered the <a href="https://www.scientificamerican.com/article/massive-study-finds-no-single-genetic-cause-of-same-sex-sexual-behavior/">most attention</a>. While the paper offered some fascinating insights into the genetics around human sexual behavior, it also illustrated the power of 23andMe&#8217;s research model. For one, the amount of phenotypic and genetic data can power studies into a complex trait like this, but it also enables the studying of sensitive and important topics. For another view, take a moment and read <a href="http://blog.23andme.com/23andme-research/the-natural-diversity-of-human-sexuality/">a perspective by Emily Drabant Conley</a>, Ph.D. Emily, 23andMe&#8217;s vice president for business development and a former research scientist, on how this research adds to our general understanding of the human condition. 
Another highlight this year was the work conducted by a former 23andMe intern Priyanka (Priya) Nakka, on the rare genetic phenomenon known as <a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30356-8">uniparental disomy</a>. This fascinating research offered the first estimate of the frequency of this condition in the general population — it happens more than we thought. And suggest, surprisingly, that individuals with this condition can live perfectly healthy lives. Beyond all that, Priya&#8217;s work offers up another example of the kind of study that likely could not have been done if not for the scale of  23andMe&#8217;s research database. Find out more about the study in this <a href="https://www.theatlantic.com/science/archive/2019/10/when-you-have-more-dna-one-parent-other/599812/">Atlantic article</a>, or on our <a href="https://blog.23andme.com/23andme-research/first-estimates-for-uniparental-disomy-a-rare-genetic-phenomenon/">blog</a>.
<h6>Other Initiatives</h6>
There is so much more we could highlight, but instead of just one thing, we&#8217;d like to point to our efforts to improve diversity in genetic research. This is a long-term commitment that, over the years, has included 23andMe&#8217;s initiatives like<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-300x300.png" alt="" class="alignright size-medium wp-image-27481" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-1024x1024.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2019/09/GGP-face-asset-1.png 1080w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The de-identified data from the African American Sequencing Project has been made available through the <a href="https://www.ncbi.nlm.nih.gov/">National Center for Biotechnology Information&#8217;s</a> database of Genotypes and Phenotypes (dbGaP). Now other qualified and vetted genetic researchers at educational and research institutions around the world will have access to this panel of data to improve the accuracy of their health-related genetic research on people of African American and African descent.
The work doesn&#8217;t end there, of course. But it shows our commitment to ensure that everyone ultimately will benefit from the breakthroughs in this genomic age in which we are living. You can read more about this in a <a href="https://www.statnews.com/2019/03/06/lack-diversity-hinders-genetic-studies/">perspective</a> by Joyce Tung, our vice president of research, from early in the year.
&nbsp;

23andMe Research Highlights from 2019

By Samantha Ancona Esselmann, PhD, product scientist at 23andMe
(Warning: This story contains Star Wars spoilers.)
Hopeless romantics, myself included, wait with bated breath for the final installment of the nine-episode-long saga of the rise and fall (and rise again) of the Skywalker dynasty. It’s not because we care what happens to the Resistance or to the First Order or even what happens to some of our favorite supporting characters. (But if Chewbacca dies, I walk.)
No, we’re really here for “Reylo.”
A portmanteau for the ages, “Reylo” combines “Rey” — the name of the Resistance’s scrappy heroine — with “Kylo” Ren, aka Ben Solo, the troubled space boi who kills his dad. Star Wars episodes seven and eight tease a possible romantic connection between the two characters. Sparks fly during a series of intimate Force-chats, which we later discover were orchestrated by Kylo’s boss, Snoke.
Some fans love to <a href="https://en.wikipedia.org/wiki/Shipping_(fandom)">ship</a> “Reylo,” while others love to hate it. With Episode 9 just around the corner, long-dormant “Reylo” Reddit threads, fanfic forums, and Twitter memes are waking up, and I’m reminded that many of us are pondering the same question that’s at the heart of Episodes 7–9: <a href="https://www.insider.com/star-wars-who-is-rey-2017-10">Are Rey and Kylo related</a>?
Kylo Ren is the son of Leia Organa. Luke Skywalker’s sister, while Rey’s mysterious parentage and her natural aptitude with the Force hint at familial ties to the Skywalker dynasty. (What’s her<a href="http://www.theforce.net/midichlorians/midi-what.asp"> midichlorian</a> count, anyway?)
So, what if — <a href="https://www.businessinsider.com/star-wars-who-is-rey-2015-12?_ga=2.198873263.1693058217.1575339381-874396559.1575339381">as many hypothesize</a> — Rey is actually Luke Skywalker’s daughter, secreted away on a remote desert planet.

<img loading="lazy" decoding="async" class="aligncenter wp-image-27820 size-full" src="http://35.88.189.111/wp-content/uploads/2019/12/Relyo-Family-Tree.png" alt="An illustration showing Kylo's and Rey's intersecting family tree" width="831" height="831" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/12/Relyo-Family-Tree.png 831w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Relyo-Family-Tree-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Relyo-Family-Tree-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Relyo-Family-Tree-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Relyo-Family-Tree-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Relyo-Family-Tree-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Relyo-Family-Tree-574x574.png 574w" sizes="auto, (max-width: 831px) 100vw, 831px" />
This would make Rey and Kylo first cousins. If Rey and Kylo are cousins, and if they were to have children together, their children would only have six great-grandparents, instead of the expected eight. There would be a closed-loop in their recent family tree.
So, is that… bad?
Well, acknowledging that cousin marriages are common and <a href="https://fivethirtyeight.com/features/how-many-americans-are-married-to-their-cousins/">often encouraged</a> in <a href="https://www.pnas.org/content/107/suppl_1/1779.full">many parts of the world</a>, we can answer this question with science!
<h6>Inbreeding: the background</h6>
Inbreeding is when two closely related individuals, who inherited some identical segments of DNA from the same ancestor(s), have children. The term genetic counselors typically use for inbreeding is “consanguinity,” which means “of the same blood” and is pronounced “con-san-gwinity.”
The degree of relationship between the two individuals matters a lot. Children of parents who are brother and sister are more consanguineous (“con-sang-win-us”) than the children of two people who are first cousins. For similar reasons, consanguinity within the same family over multiple generations increases the risk for hereditary disorders more than one isolated instance of a consanguineous union in a family tree.
Everyone’s family tree is full of these “closed loops,” but they’re usually much bigger loops than those typically associated with consanguinity.
How do we know that?
As we look further and further back in our family trees, the number of ancestors in a given generation grows exponentially. We have four grandparents, eight great-grandparents, and over 1,000 10th great-grandparents. Following this logic back, we’d have more than a trillion ancestors just 40 generations ago. But that’s more than 10 times the number of humans to have ever lived — i.e. it’s impossible. No matter how you slice or dice it, the numbers just don’t add up the way we’d expect, and it’s because of a phenomenon called “<a href="https://en.wikipedia.org/wiki/Pedigree_collapse">pedigree collapse</a>.”
If you go far enough back in time, your family tree is collapsing in on itself over and over again. Many of your ancestors will show up on multiple branches in your family tree, forming “loops.”
<h6>What does evidence of recent inbreeding look like in someone’s DNA?</h6>
People inherit 23 pairs of chromosomes: one set from mom and one from dad. Therefore, we generally have two copies of every chromosome&#8230;two copies of every gene, and so on. <img loading="lazy" decoding="async" class="alignright wp-image-27821 size-medium" src="http://35.88.189.111/wp-content/uploads/2019/12/Recombination-300x258.png" alt="A family tree showing the genetic recombination within each generation" width="300" height="258" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/12/Recombination-300x258.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Recombination-768x661.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Recombination-880x757.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Recombination.png 958w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This comes in handy when one of the copies is broken. It’s also why humans reproduce by having sex. The ability to mix and match slightly different versions of the same genes through genetic recombination helps human populations adapt to new environments and protects us against disease.
For the most part, the DNA in both copies is the same, differing at only a handful of spots.
A stretch of completely matching DNA on both copies of a chromosome is called “homozygous,” meaning “same gene,” while a stretch of DNA with a few differences between the copies is called “heterozygous” (meaning “different gene”).
<img loading="lazy" decoding="async" class="alignright wp-image-27823 size-medium" src="http://35.88.189.111/wp-content/uploads/2019/12/homohetero2-300x183.png" alt="An image illustrating the difference between homozygous versus heterozygous DNA" width="300" height="183" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/12/homohetero2-300x183.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/12/homohetero2-768x468.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/12/homohetero2.png 863w" sizes="auto, (max-width: 300px) 100vw, 300px" /> 
And, if there’s evidence of consanguinity in your recent family history, you are more likely to have stretches of homozygous (identical) DNA than someone who does not.
<h6>So how can we measure consanguinity?</h6>
To quantify consanguinity, scientists look at how much of someone’s DNA is predicted to be completely identical based on their family tree.
It’s called the coefficient of inbreeding, and it’s a fairly simple calculation that outputs a score between 0 and 1, where 0 is good and 1 is, well, bad.
In basic terms, someone’s coefficient of inbreeding is half of the degree of relationship between their parents, where the parents’ relationship degree is also measured in a range from 0 – 1, based on how much DNA they share. <img loading="lazy" decoding="async" class="alignright wp-image-27822 size-medium" src="http://35.88.189.111/wp-content/uploads/2019/12/Inbreeding-Coefficient-300x164.png" alt="A chart with relationship degrees and offspring coefficients for each close relative" width="300" height="164" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/12/Inbreeding-Coefficient-300x164.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Inbreeding-Coefficient-768x419.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Inbreeding-Coefficient-271x149.png 271w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Inbreeding-Coefficient-372x204.png 372w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Inbreeding-Coefficient-574x315.png 574w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Inbreeding-Coefficient.png 833w" sizes="auto, (max-width: 300px) 100vw, 300px" />
If the parents are completely identical clones of each other, then their relationship degree is 1, and the offspring’s inbreeding coefficient would be half that, or 0.5. (This basically means that on average, 50 percent of the offspring’s DNA would be homozygous.)
But, in real life, humans can’t mate with their clones. (Although, all bets are off in the Star Wars universe.)
So, what about Kylo and Rey — possible Skywalker cousins?
First cousins share an average of 12.5 percent of their DNA. If first cousins, Kylo and Rey, had a child, that child would have an inbreeding coefficient of 0.0625 (0.125/2) This means that roughly 6.25 percent of their child’s DNA would be made up of identical copies from parents Kylo and Rey (which they inherited from their grandparents, Padmé and Anakin).
Turns out, an inbreeding coefficient of 0.0625 is quite low, at least compared to some individuals in highly inbred families, such as the Spanish Habsburg. <img loading="lazy" decoding="async" class="alignright wp-image-27824 size-medium" src="http://35.88.189.111/wp-content/uploads/2019/12/Habsburgs-236x300.png" alt="An portrait of one of the Habsburgs with their distinctive chin" width="236" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/12/Habsburgs-236x300.png 236w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Habsburgs-768x974.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Habsburgs-807x1024.png 807w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Habsburgs-694x880.png 694w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Habsburgs-930x1180.png 930w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Habsburgs.png 1024w" sizes="auto, (max-width: 236px) 100vw, 236px" />
The <a href="https://blog.23andme.com/ancestry/the-end-of-a-dynasty-how-inbreeding-doomed-the-house-of-habsburg/">Habsburg monarch</a> estimated to be the <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716267/">most inbred</a> was the 17th-century Spanish King, Charles II, whose inbreeding coefficient was estimated to be more than 0.25.
But even for an inbred family like the Habsburg, it only takes one generation of having children with somebody genetically unrelated to reset the proverbial consanguinity meter in any children resulting from that union.
<h6>So where does that leave us with Reylo?</h6>
Assuming Rey is a secret Skywalker (and assuming DNA works the same way in the Star Wars universe), “Reylo” would <a href="https://fivethirtyeight.com/features/how-many-americans-are-married-to-their-cousins/">not be all that unusual</a>. Any children they may have together would only be at slightly higher risk for congenital abnormalities compared to children of non-consanguineous unions. According to a 2002 report published by the National Society of Genetic Counselors (the NSGC):
“Romantic relationships between cousins are not infrequent in the United States and Canada, and these unions are preferred marriages in many parts of the world. The offspring of first-cousin unions are estimated to have about a 1.7– 2.8 percent increased risk for congenital defects above the population background risk.”
<div id="attachment_27825" style="width: 1034px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-27825" class="wp-image-27825 size-large" src="https://blog-api.23andme.com/wp-content/uploads/2019/12/Estimates-of-Risk-1024x463.png" alt="" width="1024" height="463" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/12/Estimates-of-Risk-1024x463.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Estimates-of-Risk-300x136.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Estimates-of-Risk-768x347.png 768w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Estimates-of-Risk-880x398.png 880w, https://blogcms.23andme.com/wp-content/uploads/2019/12/Estimates-of-Risk.png 1128w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />Table excerpt from “Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors” (2002).</div>
The report’s authors also emphasize:
“There is a great deal of stigma associated with cousin unions in the United States and Canada that has little biological basis&#8230;Health providers should provide supportive counseling to these families and respect cultural belief systems. The psychosocial issues for genetic counseling in the case of a cousin union are very different from those for an incestuous union.”
So that’s it for Science vs. Star Wars. We’ll probably learn more about Rey’s ancestry in <a href="https://www.imdb.com/title/tt2527338/">The Rise of Skywalker</a>. Odds are, Kylo and Rey are <a href="https://www.fandom.com/articles/rey-kylo-ren-relationship-star-wars-the-last-jedi">unrelated</a>, anyway.
If you’ve discovered evidence of unexpected relationships in your family tree, our customer care team has created a resource for you <a href="https://you.23andme.com/public/unexpected-relationships">here</a>. A version of this story can be viewed <a href="https://medium.com/swlh/why-a-kylo-rey-romance-might-be-okay-even-if-theyre-cousins-8cc4b569f406">here</a>, on <a href="https://medium.com/swlh">The Startup</a>.

Samantha Ancona Esselmann

Star Wars,“Reylo” and the inbreeding coefficient

A new study is offering a glimpse of the genetic influences on retinal detachment, a common but serious condition that left untreated lead to damaged vision or blindness.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/browneyesblog-300x223.jpg" alt="" class="alignright wp-image-9969 size-medium" title="Retinal Detachment" width="300" height="223" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/browneyesblog-300x223.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/browneyesblog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Often triggered by trauma or blow to the eye, several studies have shown that there is also a genetic component that may make some people more prone to retinal detachment than others. A clear indication of that is that retinal detachment runs in families. But up until now, genetic studies have been hampered by their small size.
<h6>Big Data</h6>
That changed this month after researchers from the University of Edinburgh completed the most extensive genetic study of retinal detachment to date. The study — leveraging data from the UK Biobank — identified variants in 11 genes associated with the condition. 
As part of the study, the researchers then used data from 23andMe customers who consented to participate in research to replicate their findings and were able to do so for six of the 11 variants they identified. Two were in genes or gene regions that have never been involved in eye disorders, the others have been previously associated with neural retina thickness, myopia, and glaucoma.
“This genetic approach signposts molecular events leading to a detached retina and shared risks between some eye conditions,” said Veronique Vitart, Ph.D. of the Institute of Genetics at the University of Edinburgh, and the lead author of the study.
<h6>More Work Needed</h6>
But more work is still needed to determine how these different associations impact the risk for the condition.
“Myopia is a well-known risk factor for retinal detachment but not all myopia risk variants are predisposing to retinal detachment. With increasing genetic findings, it may be possible in the future to devise genetic risk score allowing to identify most at-risk individuals at an early stage” Dr. Vitart said.
The study, published in the journal <a href="https://doi.org/10.1093/hmg/ddz294">Human Molecular Genetics</a>, included data from almost 6,000 with some form of retinal detachment who were either UK Biobank participants or had been specifically recruited in clinics across the UK. Those latter were certified by clinicians to have the most common type of retinal detachment, called rhegmatogenous. In the UK Biobank, there were medical records that allowed researchers to indicate the type of retinal detachment. 
The researchers then replicated six of the genetic associations they found in a cohort with almost 10,000 23andMe customers who self-reported to have had a retinal detachment and consented to participate in research. 
<h6>Types of Retinal Detachment</h6>
There are <a href="https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/retinal-detachment">three types of retinal detachment.</a> But in each, the retina is pushed away from the back of the eye. 
The most common type arises following a tear or hole in the retina. This, in turn, allows vitreous fluid to get behind the retina, pushing it away from the back of the eye. A less common type of retinal detachment is called tractional, which is caused by traction from scared tissues on the retina surface, due most commonly to diabetes. This too can push the retina away from the back. Finally, the third, rare, type is called exudative, and characterized by fluid build-up behind the retina with no retinal tear. It is caused by diverse, usually inflammatory, conditions. 
Fortunately, retinal detachment is treatable. If caught early treatment is successful in nine out of 10 people, according to the National Institutes of Health.
To learn more about his study, go to the journal of <a href="https://doi.org/10.1093/hmg/ddz294">Human Molecular Genetics</a>.
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