Decisions about who should be screened for certain inherited conditions may hinge heavily on the patient’s self-reported ethnicity. 



However, a <a href="https://www.gimopen.org/article/S2949-7744(24)01015-X/fulltext">new study by 23andMe researchers </a>found that these ethnicity-based guidelines miss more than half of those who are carriers for some serious genetic conditions.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="239" src="http://35.88.189.111/wp-content/uploads/2018/03/Carrier-Status-300x239.jpg" alt="" class="wp-image-26106" srcset="https://blogcms.23andme.com/wp-content/uploads/2018/03/Carrier-Status-300x239.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Carrier-Status-768x612.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Carrier-Status-1024x816.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Carrier-Status-880x701.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2018/03/Carrier-Status.jpg 1137w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



<h2 class="wp-block-heading" id="h-carrier-status-testing">Carrier Status Testing</h2>



Some medical societies, including the American College of Obstetricians and Gynecologists (ACOG), have traditionally recommended ethnicity-based carrier screening for specific inherited conditions. For example, for people reporting Ashkenazi Jewish ancestry, they recommend screening for such as <a href="https://www.23andme.com/topics/carrier/bloom-syndrome/">Bloom syndrome</a> and <a href="https://www.23andme.com/topics/carrier/gaucher-disease-type-1/">Gaucher disease</a>. For those with Ashkenazi ancestry or French Canadian or Canjun ancestry, they recommend screening for Tay-Sachs disease. However, many people may not know their ancestry or may not report their ancestry to their healthcare providers.&nbsp;



This new study, published in the journal <a href="https://www.gimopen.org/article/S2949-7744(24)01015-X/fulltext">Genetics in Medicine Open</a>, found that more than half of the carriers of these conditions, 54.9 percent, did not report Jewish or Ashkenazi Jewish ancestry. In other words, they either do not know or do not report having Ashkenazi Jewish ancestry, which is one of the criteria for ACOG ethnicity-based screening guidelines. About half of all carriers had less than 20 percent Ashkenazi Jewish genetic ancestry. This underscores the inadequacy of relying solely on self-reported ethnicity or genetic ancestry for carrier status screening.



“Our research suggests that many individuals who are carriers for one of these inherited conditions are being missed under current ethnicity-based screening criteria,” said Dr. Noura Abul-Husn, VP of Genomic Health at 23andMe and senior author of the study.&nbsp;



<h2 class="wp-block-heading" id="h-criteria-misses-many-at-risk">Criteria Misses Many at Risk </h2>



Carrier screening has long been a crucial tool for identifying genetic conditions inherited in an autosomal recessive or X-linked manner. Some of these inherited conditions are also much more common in some ethnicities than others. 



It’s estimated that about one in three people of Ashkenazi ancestry are carriers for 16 genetic disorders more common in that population. For many years, screening recommendations from the ACOG and others have suggested that people of Ashkenazi descent be screened for many of these conditions.



For this study, 23andMe researchers analyzed the self-reported ethnicity and genetic ancestry of over 7.2 million 23andMe customers who consented to participate in the research. The scientists then identified 116,517 individuals who were carriers of inherited conditions for which ACOG recommends carrier screening in the Ashkenazi Jewish population.



More than half of those carriers, 54.9 percent, did not report Jewish ethnicity, which is one of the ACOG ethnicity-based screening guidelines criteria.



<h2 class="wp-block-heading" id="h-moving-beyond-ethnicity-based-screening">Moving Beyond Ethnicity-Based Screening</h2>



These findings have profound implications. This work is consistent with previous research that has demonstrated that ethnicity-based carrier screening can result in the under-detection of carriers. 



Another medical society, the American College of Medical Genetics and Genomics (ACMG), issued guidelines in 2021 recommending that healthcare providers not use ethnicity to guide carrier screening. Instead, the ACMG recommended screening everyone using the same tiered approach. However, some insurance companies do not provide coverage for this type of carrier screening. Those insurers cite ACOG ethnicity-based carrier screening as a justification.&nbsp;



Knowing carrier status allows prospective parents to make informed decisions regarding family planning, like pursuing in vitro fertilization with genetic screening or preparing for the birth of a child with a genetic condition. Moving beyond ethnicity-based carrier screenings, we can improve the detection of carriers and better assess reproductive risks, ultimately leading to more informed and effective healthcare decisions.



This research calls for reevaluating current guidelines and shifting towards more inclusive and comprehensive genetic screening approaches that do not rely on self-reported ethnicity.



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



<a href="https://www.23andme.com/dna-health-ancestry/">23andMe&#8217;s Health &amp; Ancestry Service</a> includes reports on more than 45 inherited conditions, including cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. 



Find out more about all that 23andMe has to offer <a href="https://www.23andme.com/compare-dna-tests/">here</a>.

23andMe Blog

23andMe Blog Team

The Shortcomings of Ethnicity-Based Carrier Screening

Today, Lemonaid Health, a telehealth subsidiary of 23andMe, launched a new weight loss program that will offer eligible individuals access to clinical care and, as appropriate, prescriptions for Ozempic®, Wegovy®, and compounded semaglutide (GLP-1) medications.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="300" src="http://35.88.189.111/wp-content/uploads/2024/08/lemonaid-glp-1-300x300.jpg" alt="An image of GLP-1 medications" class="wp-image-33280" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-1024x1024.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-1180x1180.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-glp-1.jpg 1920w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



The new weight loss membership program* provides consumers with a convenient and high-quality way to manage their weight with the help of a Lemonaid Health clinician.



“We are excited to be helping our customers get access to potentially life-changing weight management programs and GLP-1 medication through Lemonaid Health and 23andMe,” said Anne Wojcicki, CEO and Co-Founder of 23andMe. “We are focused on helping customers live healthier, longer lives and believe weight management is an important pillar. We also remain enthusiastic as we see encouraging research come out about additional applications for GLP-1s and ways they may be able to prevent or mitigate disease.”



<h2 class="wp-block-heading" id="h-lemonaid-s-weight-management-program">Lemonaid’s Weight Management Program</h2>



Many people struggle with maintaining a healthy weight. More than two-thirds of adults in the United States are overweight or obese, leading to many downstream adverse health outcomes, according to<a href="https://www.niddk.nih.gov/health-information/health-statistics/overweight-obesity"> data from the National Institutes of Health</a>. Many of these people have struggled to lose weight through diet and exercise, partly explaining the recent popularity of GLP-1s. One in eight adults in the US report using a GLP-1 drug for weight loss, diabetes, or heart disease, according to<a href="https://www.kff.org/health-costs/press-release/poll-1-in-8-adults-say-theyve-taken-a-glp-1-drug-including-4-in-10-of-those-with-diabetes-and-1-in-4-of-those-with-heart-disease/"> a poll from the Kaiser Family Foundation</a>.







<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="220" src="http://35.88.189.111/wp-content/uploads/2024/08/lemonaid-logo-color@4-1024x220.png" alt="" class="wp-image-33278" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-logo-color@4-1024x220.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-logo-color@4-300x65.png 300w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-logo-color@4-768x165.png 768w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-logo-color@4-880x189.png 880w, https://blogcms.23andme.com/wp-content/uploads/2024/08/lemonaid-logo-color@4-1180x254.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



The hope is that Lemonaid Health’s new weight management program will help people struggling with their weight.&nbsp;&nbsp;



Lemonaid&#8217;s new subscription weight management program offers eligible consumers prescriptions for once-weekly injectable GLP-1 medications. In addition to the GLP-1 prescription, the new program includes video or phone consultations with a clinician, ongoing care and support, and annual lab testing.



After an initial consultation with a licensed healthcare provider to confirm eligibility and medication preference, the membership costs $49 per month. Service use does not require a long-term commitment, and pricing doesn’t change based on a medication’s dosage strengths. The medication costs $299 monthly for compounded semaglutide, $1199 monthly for Ozempic®, and $1599 monthly for Wegovy®. Medication costs may be&nbsp; HSA and FSA-eligible. We will offer an exclusive cash-pay model that provides fast shipping directly to patients.



Lemonaid Health provides consistent and reliable quality care to patients through ongoing access to licensed medical providers, fully online across the United States. The company&#8217;s compounded semaglutide medication is made from the same active ingredient as Ozempic® and Wegovy® and prepared by a state-licensed, FDA-inspected 503(b) compounding pharmacy that has undergone extensive quality checks.



<h2 class="wp-block-heading" id="h-glp-1-genetic-study">GLP-1 Genetic Study</h2>



Lemonaid Health&#8217;s weight management program follows a new large-scale GLP-1 study launched by researchers at 23andMe. This study will look at the genetics behind not only why GLP-1 medications are effective for some individuals and not others but also whether genetics plays a role in the side effects some individuals experience.



The<a href="https://blog.23andme.com/articles/23andme-launches-genetic-study-of-glp-1s"> GLP-1 study</a> and Lemonaid&#8217;s new weight management program fit within 23andMe&#8217;s broader effort to improve people&#8217;s health through prevention. For several years, scientists at 23andMe have<a href="https://blog.23andme.com/articles/weight-loss-study"> studied weight loss</a>. We&#8217;ve also looked at related issues, such as how a person&#8217;s genetics affect their response to<a href="https://blog.23andme.com/articles/23andme-explores-dietary-habit-and-health-outcomes"> diet</a> and<a href="https://blog.23andme.com/articles/step-it-up-for-research"> exercise</a>. In 2017, the company began offering customers a <a href="https://blog.23andme.com/articles/23andme-releases-first-of-its-kind-genetic-weight-report">Genetic Weight Report</a> powered by 23andMe research. That report examines hundreds of genetic variants to provide personalized &#8220;Healthy Habits.&#8221; This shows which lifestyle modifications have the most significant impact on weight based on someone&#8217;s genetics. This report complements the <a href="https://www.23andme.com/topics/wellness/saturated-fat-and-weight/">Saturated Fat &amp; Weight Report</a>, which offers personalized insights about the effects of saturated fat intake on weight and provides motivation to <a href="https://blog.23andme.com/articles/tipping-scales-participants-make-healthy-dietary-changes-response-direct-consumer-genetic-test-results">make healthy dietary changes</a>.



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



Lemonaid Health’s weight loss services are currently available in select states. However, the weight loss services will soon be rolled out to additional locations in the coming months. Learn more about the program and confirm eligibility <a href="https://www.lemonaidhealth.com/services/weight-loss">here</a>.&nbsp;&nbsp;&nbsp;



<hr class="wp-block-separator has-alpha-channel-opacity"/>



*&#8220;Weight Loss Membership required for access to prescription GLP-1 medications, if prescribed. Additional terms apply. See Lemonaidhealth.com for details.



<hr class="wp-block-separator has-alpha-channel-opacity"/>



Note:



See important safety information on <a href="https://www.lemonaidhealth.com/safety-information/weight-loss#ozempic">Ozempic®</a>, <a href="https://www.lemonaidhealth.com/safety-information/weight-loss#wegovy">Wegovy®</a>, and <a href="https://www.lemonaidhealth.com/safety-information/weight-loss#compounded-semaglutide">compounded semaglutide</a>.&nbsp; Ozempic® is FDA-approved for treating Type 2 Diabetes, but it may also be prescribed for weight loss at the professional discretion of a licensed medical provider. Wegovy® is FDA-approved for chronic weight management in certain individuals.&nbsp;Compounded semaglutide has not been approved or evaluated for safety, efficacy, or quality by the FDA.Ozempic® and Wegovy® are registered trademarks of Novo Nordisk A/S.Novo Nordisk is a registered trademark of Novo Nordisk A/S.

23andMe’s Lemonaid Health Now Offering GLP-1 Medications

As part of continuing improvements to 23andMe&#8217;s Ancestry Service, we recently added 12 Genetic Groups for customers with roots in Japan and 25 for those genetically connected to one of the five Nordic countries in which Scandinavian or Finnish genetic ancestry is most common: Denmark, Finland, Iceland, Norway, or Sweden.



The updates improve the granularity of results for customers with ancestral lines tracing to these distinctive regions on opposite sides of the world. This update also closely follows the recent addition of 49 different genetic populations in<a href="https://blog.23andme.com/articles/germanic-europe-genetic-groups"> Germanic Europe</a>, France, Belgium,<a href="https://blog.23andme.com/articles/23andme-improves-ancestry-results-for-people-with-south-american-levantine-sephardic-and-mizrahi-genetic-ancestry"> South America, and the Levant</a>, offering those with roots that trace back to these regions of Europe.



Let&#8217;s look at the new genetic groups added with this update in Japan and Scandinavia.



<h2 class="wp-block-heading" id="h-japan-update">Japan Update</h2>



This update includes new genetic groups in Japan.



Japan is an archipelago composed of more than 6,852 islands. Multiple waves of migration from the Asian mainland, starting as early as 35,000 years ago, first populated the islands.



Modern Japanese people can trace most of their ancestry to the Stone Age Jomon and late Stone Age Yayoi cultures. The Yayoi people introduced ironworks and agriculture. Yayoi DNA is concentrated in the center of Japan, while Jomon ancestry persists to the north and south among the culturally distinctive Ainu and Ryukyuan peoples.



The various tribes and kingdoms of Japan were nominally unified under the Emperor of Japan around the fifth century, a dynastic line that continues in modern times. One of the most culturally important periods for classical Japanese art, poetry, and literature is the Heian period, which lasted from 794 to 1185. Heian means peace in Japanese.



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="546" src="http://35.88.189.111/wp-content/uploads/2024/08/Japan-Hero-1024x546.jpg" alt="An image of Kyoto Japan
" class="wp-image-33259" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/08/Japan-Hero-1024x546.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Japan-Hero-300x160.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Japan-Hero-768x409.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Japan-Hero-880x469.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Japan-Hero-1180x629.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Here are the 12 genetic populations we&#8217;ve added for this update:



<ul class="wp-block-list">
<li>Ryukyu Arc: For those with ancestral connections to people from the Ryukyu Arc, an arc-shaped archipelago extends south of Kyushu along the Ryukyu Islands.</li>



<li>Yamaguchi and Western Hiroshima: For those with ancestral connections to people from Yamaguchi and Western Hiroshima, a region known for its rural beauty and rich history.</li>



<li>Northern Honshu and Hokkaido: For those with ancestral connections to people from northern Japan, including the Hokkaido, Tohoku, Kanto, and Chubu regions.</li>



<li>Kii Peninsula: For those with ancestral connections to people from the Kii Peninsula, located on the island of Honshu and within the Kansai region.</li>



<li>Northern Kyushu: For those with ancestral connections to people from Northern Kyushu, a region known for its dramatic scenery in places like Mount Aso, the largest active volcano in Japan.</li>



<li>Chugoku and northern Shikoku: For those with ancestral connections to people from Chugoku, the westernmost region of Honshu, the largest and main island of Japan, and from northern Shikoku.</li>



<li>Southern Kyushu: For those with ancestral connections to people from Southern Kyushu, known for its scenery ranging from the wild horses on Cape Toi to sweeping views of active volcano Sakurajima in the Kagoshima Bay.</li>



<li>Yanbaru: For those with ancestral connections to people from Yanbaru, the northern part of Okinawa, including Nago and the Kunigami district.</li>



<li>Miyako-jima: For those with ancestral connections to people from the island of Miyako-jima, a picturesque island southwest of Okinawa.</li>



<li>Southern Okinawan: For those with ancestral connections to people from Southern Okinawa and north of Nanzan.</li>



<li>Nagasaku Bay and Yokatsu Islands: For those with ancestral connections to people from the Nagasaku Bay and Yokatsu Islands of Okinawa, home of a significant part of the Chuzan kingdom in the 14th and 15th centuries.</li>



<li>Okinawan West Coast: For those with ancestral connections to people from the west coast of Okinawa, stretching from Naha in the south to Nakijin in the north.</li>
</ul>



<h2 class="wp-block-heading" id="h-scandinavia-update">Scandinavia Update</h2>



The Scandinavia update includes genetic groups across five Nordic countries in which Scandinavian or Finnish genetic ancestry is most common.



However, these five countries also have shared linguistic and genetic roots that trace back to Northern Germanic tribes that established settlements in the North Sea during the Middle Ages. Mixed in with those Germanic tribal roots are local Scandinavian populations, like the Sámi people of the far north, who were hunter-gatherers.



These countries have a lot in common, but they also have their own unique cultures and histories, and there are regional differences. 23andMe added new genetic populations within each country to better reflect those distinguishing cultural differences and improve customers&#8217; results.



Those include five populations in Denmark, three in Iceland, four in Finland, seven in Norway, and six in Sweden.



Viking exploration, conquest, and colonization helped spread Scandinavian culture. Vikings went far beyond the six countries we now associate with Scandinavia, including settlements in Scotland, England, Ireland, Normandy, and Greenland. They extended their reach eastward into Russia, south to the Mediterranean, and as far west as North America.



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="612" src="http://35.88.189.111/wp-content/uploads/2024/08/Scandinavia-Hero-1024x612.jpg" alt="An image of boats anchored in a Nordic port" class="wp-image-33257" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/08/Scandinavia-Hero-1024x612.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Scandinavia-Hero-300x179.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Scandinavia-Hero-768x459.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Scandinavia-Hero-880x526.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Scandinavia-Hero-1180x706.jpg 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Here are the genetic populations added to the five countries in Scandinavia:



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



<ul class="wp-block-list">
<li>Southern Denmark: For those with ancestral connections to people from southwest Denmark, in the western parts of the Syddanmark (&#8220;South Denmark&#8221;) region on the Jutland, first settled in the Stone Age.</li>



<li>East Jutland: For those with ancestral connections to people from Østjylland, which stretches from Viborg in the northwest to Horsens and Vejle in the south.</li>



<li>Northern Denmark: This region, which stretches from Aalborg in the south to Skagen in the north, is for those with ancestral connections to people from North Jutland or Nordjylland.</li>



<li>Hovedstaden, Sjælland, and Fyn: For those with ancestral connections to people from the island regions of Denmark: Hovedstaden, Sjælland, and the eastern island of Syddanmark (&#8220;South Denmark&#8221;)—Fyn.</li>



<li>West Jutland: For those with ancestral connections to people from the rugged region of West Jutland, the part of Midtjylland west of the Jutish ridge, ranging from Herning in the south and Løgstør and Thisted in the north.</li>
</ul>



<h6 class="wp-block-heading" id="h-finland">Finland</h6>



<ul class="wp-block-list">
<li>Helsinki and Southern Finland: This is for those with ancestral connections to people from the capital of the Helsinki region and Southern Finland.</li>



<li>Ostrobothnia and Central Ostrobothnia: For those with ancestral connections to people from the northern half of Ostrobothnia and Central Ostrobothnia, regions are known for their distinctive coastal landscapes and deep cultural heritage.</li>



<li>West-Central Coast of Finland: For those with ancestral connections to people from the southwest coast of Finland, ranging from the Gulf of Bothnia to Lakeland in the east and spanning between the southern half of Ostrobothnia and Southwest Finland.</li>



<li>Lapland, Northern Ostrobothnia, and Kainu Region: For those with ancestral connections to people from central and northern Finland, spanning from the southern cities of Lapland in the north and down to the Finnish Lakeland in the south. This region is known for its stark beauty and rugged conditions.&nbsp;</li>
</ul>



<h6 class="wp-block-heading" id="h-icelandic-populations">Icelandic Populations</h6>



<ul class="wp-block-list">
<li>Northern Iceland: For those with connections to the northern coast of Iceland, the town of Akureyri, and the east coast extending to the north edge of Vatnajökull glacier.&nbsp;&nbsp;</li>



<li>Southern Iceland and Reykjavik Region: For those with ancestral connections to people from the southern coastal region of Iceland, stretching from the Reykjanes peninsula to the capital of Reyjavik and out toward the western edge of Iceland&#8217;s largest glacier, Vatnajökull.</li>



<li>Western Iceland: For those with ancestral connections to people from the western peninsula of Iceland, an area of rugged mountainous and coastal fjords known as the Westfjords.</li>
</ul>



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



<ul class="wp-block-list">
<li>Southern Norwegian Coastal Plains: For those with connections to people from southern Norway, extending from the coastal plains bordering the Skagerrak strait inland to the Setesdalsheiene mountains.</li>



<li>Oslofjord Lowlands: For those with connections to people from eastern lowlands of Norway, from Oslofjord in the south extending to the southeastern foothills of the Scandinavian Mountains. Called Østlandet in Norwegian, the region is home to Norway&#8217;s capital city, Oslo.</li>



<li>Northwestern Norwegian Fjords: For those with connections to people from Norway&#8217;s northwestern coastal fjords and surrounding lowlands.</li>



<li>Arctic Norway: For those with connections to people from the far northern tundra of Norway, stretching up to where Norway shares its only border with Finland.</li>



<li>Boknafjord Lowlands: For those with ancestral connections to people from the lands surrounding Boknafjord, a large fjord on the southwestern coast of Norway.</li>



<li>Trondheim Fjord Region:&nbsp; For those with ancestral connections to people from the northern coastal region of Norway surrounding Trondheim Fjord.</li>



<li>Western Fjords: For those with ancestral connections to people from the central western coast of Norway, stretching from the majestic Sognefjord—Norway&#8217;s longest and deepest fjord—in the north to Hardangerfjord in the south.</li>
</ul>



<h6 class="wp-block-heading" id="h-sweden">Sweden</h6>



<ul class="wp-block-list">
<li>Eastern Norrland: For those with ancestral connection from northeastern Sweden, primarily in the Ångermanland, Västerbotten, and Norrbotten historical provinces along the Gulf of Bothnia in the Baltic Sea.&nbsp;</li>



<li>Western Svealand: For those with ancestral connection from Värmland and Örebro counties, a region in west-central Sweden between Lake Siljan to the north, Lake Vänern—Sweden&#8217;s largest lake—to the south, and Örebro to the east.</li>



<li>Central Götaland: For those with ancestral connection from the southeastern historical provinces of Halland, Östergötland, Småland, and Södermanland, extending from Stockholm in the northeast to the southern coastal regions and spanning across the country from the Kattegat Strait in the west to the Baltic Sea in the east.</li>



<li>Northwest Götaland: For those with an ancestral connection to people from Västra Götaland, a large county in southwest Sweden home to Gothenburg, the second largest city and a major modern port.</li>



<li>Eastern Svealand and southern Norrland: For those with an ancestral connection to people from east—central Sweden in the historic regions of Svealand and Norrland, which ranges from the modern Gävleborg county in the north to Stockholm, Uppsala, and Västmanland counties in the south.</li>



<li>Skåneland: For those with ancestral connection from east-central Sweden in the historic regions of Svealand and Norrland, which ranges from the modern Gävleborg county in the north to Stockholm, Uppsala, and Västmanland counties in the south.</li>



<li>Eastern Svealand and southern Norrland: These are for those with ancestral connections to the southern part of Sweden (sometimes referred to as &#8220;Skåneland&#8221;), which includes the modern counties of Blekinge, Kronoberg, and Skåne.</li>
</ul>



<h2 class="wp-block-heading" id="h-find-out-more">Find out more</h2>



23andMe customers can see their<a href="https://you.23andme.com/reports/ancestry_composition_hd/"> Ancestry Composition</a>.&nbsp;



Are you still waiting to be a customer? Find out more about 23andMe&#8217;s<a href="https://www.23andme.com/compare-dna-tests/">&nbsp; Ancestry Service and other services</a>.

Japan and Scandinavia Genetic Groups Update

Lillian Newman decided to use 23andMe in part because she wanted to learn about her grandfather, who was from Cuba and had some Sephardic ancestry, but she thought testing could reveal so much more than that.



&#8220;The reason I chose 23andMe is that (it has) a focus not only on the ancestry side but on how your DNA relates to your health,&#8221; Lillian said.



<h2 class="wp-block-heading" id="h-what-i-know-now">What I Know Now</h2>



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="225" height="300" src="http://35.88.189.111/wp-content/uploads/2024/08/IMG_3775-225x300.jpg" alt="A photo of Lillian Neuman" class="wp-image-33205" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/08/IMG_3775-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2024/08/IMG_3775-768x1024.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2024/08/IMG_3775-660x880.jpg 660w, https://blogcms.23andme.com/wp-content/uploads/2024/08/IMG_3775-885x1180.jpg 885w, https://blogcms.23andme.com/wp-content/uploads/2024/08/IMG_3775-scaled.jpg 1920w" sizes="auto, (max-width: 225px) 100vw, 225px" /></figure>



Little did she know that her 23andMe health reports would help her profoundly. She shared her story because she thought it might help others. Lillian believes that she&#8217;s not the only one who didn&#8217;t know that genetics affects how one&#8217;s body processes many commonly prescribed medications.* Despite this, clinical guidelines rarely call for testing people before prescribing those medications.



&#8220;I wish I had known then what I know now,&#8221; Lillian said. &#8220;Using 23andMe+ Premium and finding out about the SLCO1B1 gene was huge. Huge.&#8221;



Her reference to the SLCO1B1 gene refers to how different genetic variants in SLCO1B1 can affect how you process certain medications.&nbsp; Like millions of Americans, Lillian Newman has high cholesterol, which, left untreated, can lead to a whole host of issues, including heart disease, heart attacks, and strokes. She learned about her high cholesterol after a routine blood test in 2018. To address the problem, Lillian&#8217;s doctor prescribed a statin.



<h2 class="wp-block-heading" id="h-statins-save-lives">Statins Save Lives</h2>



Statins are among the most prescribed medications in the United States. According to the CDC, an estimated one in four adults in the U.S. takes a cholesterol-lowering medication, and the vast majority of those are statins.



Statins work by inhibiting an enzyme in the liver so the liver makes less cholesterol but pulls in more cholesterol from the bloodstream. That lowers the amount of bad cholesterol in the blood, stabilizing any plaques along the artery&#8217;s walls, and preventing even more plaque from building up. That, in turn, reduces the chances of a stroke or heart attack. Statins have proven<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126440/"> mostly safe and effective</a> in lowering cholesterol and thus have helped to prevent heart attacks and strokes.



<h2 class="wp-block-heading" id="h-side-effects">Side Effects</h2>



But there are some side effects from taking statins — headache, brain fog, fatigue, and sometimes intense muscle cramping and pain. Sometimes, these side effects are related to a person&#8217;s genetics, which can affect how they process medications. In turn, the side effects sometimes lead people to either change how they take their medication or stop taking it altogether, which in turn can lead to poor health outcomes.



For Lillian, the side effects — severe muscle pain — began after her doctor increased the dose of the statin she was taking. Within a few weeks, the muscles in her legs started cramping. At one point, she had such crushing chest pain that she thought she was having a heart attack and was rushed to the ER. After a cardiologist determined it wasn&#8217;t her heart, her doctor told her that sometimes people experience cramping as a side effect of taking statins but that the benefits of taking the statin outweigh the pain.



&#8220;I remember I went home feeling despondent,&#8221; Lillian said.



Lillian said no one ever mentioned genetics or how using a different statin dose might help. She thought she just had to grit her teeth and bear it. Periodically, the pain was so bad that she&#8217;d go off her medication, something that can be very risky.



<h2 class="wp-block-heading" id="h-a-simple-change">A Simple Change</h2>



A person&#8217;s genetics — specifically a genetic variant that affects the function of the <a href="https://blog.23andme.com/articles/new-23andme-report-on-simvastatin">SLCO1B1 transporter protein</a>, which in turn affects how a person&#8217;s body processes the statin known as simvastatin — plays a role in side effects like muscle pain in some people. Other non-genetic factors also play a role, but very few people are tested to see if they have a genetic marker that might impact how they process a drug. Lillian didn&#8217;t know anything about what&#8217;s known as <a href="https://blog.23andme.com/articles/23andme-granted-the-first-and-only-fda-authorization-for-direct-to-consumer-pharmacogenetics-reports">pharmacogenetics</a> or how DNA variants influence the body&#8217;s ability to process medication.



&#8220;In the five years of dealing with cholesterol issues, no one tested me for SLC01B1,&#8221; Lillian said.



Although she had been a customer of 23andMe for years, last year, she decided to upgrade to 23andMe+ Premium, which includes pharmacogenetic reports. When she opened the report on SLCO1B1 Drug Transport, specifically looking at the medication insights for simvastatin, it felt personal to her experience.



&#8220;It provided me with critical information to discuss with my doctor,&#8221; Lillian said.



Her doctor lowered her statin dosage, and that small change made a huge difference in her life, allowing her to continue to manage her cholesterol but without the debilitating pain.&nbsp;



&#8220;Now, I wanted to tell you that doing the 23andMe+ membership is the best (money) I spent this year,&#8221; Lillian said. &#8220;I am deeply grateful to 23andMe. You truly made a difference for me by having that test available. I think everyone should know about this.&#8221;&nbsp;



<hr class="wp-block-separator has-alpha-channel-opacity"/>



<h2 class="wp-block-heading" id="h-note">Note:</h2>



*23andMe PGS Pharmacogenetics reports: The 23andMe test uses qualitative genotyping to detect 3 variants in the CYP2C19 gene, 2 variants in the DPYD gene, and 1 variant in the SLCO1B1 gene in the genomic DNA of adults from saliva to report and interpret information about the processing of certain therapeutics to inform discussions with a healthcare professional. It does not describe if a person will or will not respond to a particular therapeutic and does not describe the association between detected variants and any specific therapeutic. 



Our CYP2C19 Pharmacogenetics report provides certain information about variants associated with metabolism of some therapeutics and provides interpretive drug information regarding the potential effect of citalopram and clopidogrel therapy. Results for SLCO1B1 and DPYD and certain CYP2C19 results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. Warning: Test information should not be used to start, stop, or change any course of treatment and does not test for all possible variants that may affect metabolism or protein function. The PGS test is not a substitute for visits to a healthcare professional. Making changes to your current regimen can lead to harmful side effects or reduced intended benefits of your medication, therefore consult with your healthcare professional before taking any medical action. For important information and limitations regarding Pharmacogenetics reports, visit <a href="http://23andme.com/test-info/pharmacogenetics/">23andme.com/test-info/pharmacogenetics/</a>

Customer Learns Her Genetics Impacts How She Processes Statins

<a href="https://pubmed.ncbi.nlm.nih.gov/38658749/">A new ancient DNA study</a> sheds light on the social structure of the ancient Avars, a medieval population that dominated the Carpathian Basin between the 6th and 9th centuries. 



The Avars ruled in what is now Hungary, Romania, Slovakia, Austria, Croatia, and Serbia until they were overpowered by the Franks in attacks led by Charlemagne.



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="634" src="http://35.88.189.111/wp-content/uploads/2024/08/Avar-Treasure-1024x634.jpeg" alt="Examples of Avar Treasure that include gold and silver chalices and plates." class="wp-image-33235" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/08/Avar-Treasure-1024x634.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Avar-Treasure-300x186.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Avar-Treasure-768x476.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Avar-Treasure-880x545.jpeg 880w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Avar-Treasure-1180x731.jpeg 1180w, https://blogcms.23andme.com/wp-content/uploads/2024/08/Avar-Treasure.jpeg 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h2 class="wp-block-heading" id="h-the-avar-period">The Avar Period </h2>



In the study, researchers sequenced the genomes of 424 individuals from four different cemeteries dating to the Avar period (567–822 CE). 



They discovered that each cemetery contained groups of closely related individuals. They reconstructed a family tree from individuals in one cemetery that spanned nine generations and connected 146 individuals, primarily via male lineages. 



This confirmed that, like many nomadic people of the Eurasian Steppe, the Avars were a patrilocal society, meaning that adult females relocated to reside with their male partners and their families. They also found evidence that the Avars practiced levirate unions, whereby the men would marry the widows of their deceased male relatives. 



This tradition is still practiced today in some parts of the world. The researchers even discovered one case where an Avar woman had children with four related men.



<h2 class="wp-block-heading" id="h-mixed-ancestry">Mixed Ancestry</h2>



They also found that the Avars had mixed ancestry, with substantial ancestry tracing to northeast Asia. 



This is consistent with claims that they originally descended from members of the Rouran Khaganate, a tribal confederation that spanned parts of what is now Mongolia, Kazakhstan, eastern Siberia, and northwestern China during the 4th–6th centuries. Most of the Avars also possessed West Eurasian ancestry, some of which may have been acquired before the arrival of the Avars in the Carpathian Basin. 



<h2 class="wp-block-heading" id="h-learn-more">Learn More</h2>



In celebration of these exciting new discoveries, we’ve added 26 of the Avars whose genomes were published as part of this study to Historical MatchesSM, our new <a href="https://www.23andme.com/membership/">23andMe+ PremiumTM</a> membership feature so that you can find out if you share a genetic connection to them.

Examples of Avar Treasure that include gold and silver chalices and plates.

New Historical Matches Could Connect You to the Medieval Avars

In early July, President Biden signed into law the<a href="https://www.instagram.com/p/C88OKGZNQwn/?igsh=MTc4MmM1YmI2Ng%3D%3D"> National Plan to End Parkinson&#8217;s Act</a>. This is a monumental step forward for the scientists at 23andMe and the millions living with Parkinson&#8217;s disease. Seeing this bipartisan legislation become law is heartening, as it will bolster efforts to find new treatments and ultimately cure Parkinson&#8217;s.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="282" height="300" src="http://35.88.189.111/wp-content/uploads/2022/03/PD-Research-282x300.png" alt="" class="wp-image-29642" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/03/PD-Research-282x300.png 282w, https://blogcms.23andme.com/wp-content/uploads/2022/03/PD-Research-768x817.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/03/PD-Research-827x880.png 827w, https://blogcms.23andme.com/wp-content/uploads/2022/03/PD-Research.png 861w" sizes="auto, (max-width: 282px) 100vw, 282px" /></figure>



23andMe launched its <a href="https://www.23andme.com/pd/">Parkinson&#8217;s Research</a> effort 15 years ago, leveraging its unique research model to aid in the fight against this disease. For many of us, this research is personal—we have family members or loved ones living with Parkinson&#8217;s. Along with our ongoing research, 23andMe was the first direct-to-consumer genetic testing company to offer reports authorized by the FDA that estimated a person’s genetic likelihood of developing Parkinson’s disease.



We’ve continued that commitment to our customers and toward <a href="https://blog.23andme.com/articles/preliminary-results-from-the-parkinsons-impact-project-baseline-survey">important Parkinson’s research.</a> More than 37,000 people with Parkinson&#8217;s are part of our Parkinson&#8217;s Research community. That community and the millions of 23andMe customers who have consented to participate in our research make this work possible. Together, we&#8217;ve published over two dozen papers. Collaborating with the Michael J. Fox Foundation (MJFF) and the Parkinson&#8217;s Foundation, we are getting closer daily to our goal of ending Parkinson&#8217;s.



Modeled after the National Alzheimer&#8217;s Project Act (NAPA) of 2011, the new law will direct more attention and funding toward Parkinson&#8217;s research, just as NAPA did for Alzheimer&#8217;s. In the last year, two new treatments have been approved by the FDA to treat early Alzheimer&#8217;s, and there are now some new tests that help with earlier diagnosis of the disease. The hope is that the National Plan to End Parkinson&#8217;s Act will lead to similar breakthroughs for treating and diagnosing Parkinson&#8217;s disease.



We talked to a few of the 23andMe scientists working on Parkinson&#8217;s research to get their reaction to the new law and what it may mean for new treatments for Parkinson&#8217;s disease.



<h2 class="wp-block-heading" id="h-promising-new-research">Promising New Research</h2>



Hopefully, this new law will spur additional funding for Parkinson&#8217;s research. Looking at all the Parkinson&#8217;s research, including work by 23andMe researchers on topics such as<a href="https://academic.oup.com/brain/article/147/6/1996/7676517?login=false"> LRRK2 G2019S</a>, the<a href="https://blog.23andme.com/articles/parkinsons-disease-and-the-microbiome"> microbiome, and Parkinson&#8217;s</a> and <a href="https://blog.23andme.com/articles/large-study-on-parkinsons-disease-includes-understudied-populations">Parkinson&#8217;s in non-European populations</a>, what are you most excited about in current Parkinson&#8217;s research?



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="228" src="http://35.88.189.111/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-300x228.png" alt="Mapping of LRRK2 PD symptoms to areas of the brain." class="wp-image-32942" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-300x228.png 300w, https://blogcms.23andme.com/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-768x584.png 768w, https://blogcms.23andme.com/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1024x779.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-880x670.png 880w, https://blogcms.23andme.com/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain-1180x898.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2024/05/Mapping-LRRK2-Symptoms-to-Brain.png 1899w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



23andMe PD Research Team: The Parkinson’s research landscape is expanding into so many promising areas that choosing just one is difficult! A few of our top research priorities at this time include exploring Parkinson’s genetic insights into multi-ancestry populations, early Parkinson’s disease detection, and the importance of gut/saliva microbes. Scientists are developing accessible assays of alpha-synuclein—the protein that misfolds and is associated with the development of Parkinson’s—that will aid in early detection and spur further insights into disease progression. There is still so much work to do, and we are excited to contribute research in genetics, ancestry, and the microbiome to understand Parkinson’s biology and pathology further.



<h2 class="wp-block-heading" id="h-the-alzheimer-s-research-example">The Alzheimer&#8217;s Research Example</h2>



The new law was modeled after the National Alzheimer&#8217;s Project Act. What do you see as a parallel with Alzheimer&#8217;s research, and where does the comparison diverge?



23andMe PD Research Team: Both Alzheimer’s and Parkinson’s are neurodegenerative diseases that pose real challenges to the patients living with them, as well as to the researchers trying to find a breakthrough. Both diseases currently have treatments that primarily address symptoms rather than cure the disease, so both camps of researchers are actively looking for a breakthrough. The etiologic and clinical details can be different—for example, PD often begins with motor symptoms while AD’s early manifestations are more cognitive—but the commonalities in studying the two conditions are much more pronounced.



<h2 class="wp-block-heading" id="h-23andme-s-parkinson-research">23andMe&#8217;s Parkinson Research</h2>



23andMe has been studying Parkinson&#8217;s disease since 2009, and our findings have been published in more than two dozen papers. Is there a big takeaway from all that work and the ongoing work on Parkinson&#8217;s?



<figure class="wp-block-image alignright size-full"><img loading="lazy" decoding="async" width="332" height="332" src="http://35.88.189.111/wp-content/uploads/2019/02/BHM-Microscope-NoBack.png" alt="" class="wp-image-26906" srcset="https://blogcms.23andme.com/wp-content/uploads/2019/02/BHM-Microscope-NoBack.png 332w, https://blogcms.23andme.com/wp-content/uploads/2019/02/BHM-Microscope-NoBack-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2019/02/BHM-Microscope-NoBack-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2019/02/BHM-Microscope-NoBack-271x271.png 271w" sizes="auto, (max-width: 332px) 100vw, 332px" /></figure>



23andMe PD Research Team: Before the 21st century, genetics were thought to have little to no influence on Parkinson’s disease. Thanks to the advent of sequencing technologies, we have learned a great deal about the genetic underpinnings of Parkinson’s. 23andMe has been an essential contributor to Parkinson’s genetics research due to our unique and large customer base that is highly engaged in research. The big takeaway from our science has been the identification of ~90 genes that are associated with the risk of Parkinson’s. With each decade that passes, we are learning more and more about how genetics influences Parkinson’s disease risk and symptoms. This knowledge is the foundation used to develop genetic testing and improve early detection of Parkinson’s disease, identify new drug targets, and develop new medications.



<h2 class="wp-block-heading" id="h-collaborations">Collaborations</h2>



For almost our entire Parkinson&#8217;s research program, 23andMe has collaborated with the Michael J. Fox Foundation and the Parkinson&#8217;s Foundation. We&#8217;ve also collaborated with some academic institutions and the NIH. Where are we most interested in collaborating on areas around Parkinson&#8217;s disease? Will we likely see access to this dataset expanded to more qualified researchers?



23andMe PD Research Team: Scientific collaboration is crucial to succeed in Parkinson’s research. We are interested in continuing our support and collaboration with ongoing studies, including The Michael J. Fox Foundation’s PPMI and The University of Rochester’s VALOR-PD studies. We are excited to contribute to Radboud University Medical Center’s Slow-SPEED study—the first-ever remote exercise intervention in prodromal Parkinson’s. We are also excited to explore the capabilities of wearable devices in detecting early Parkinson’s and cognitive games to monitor brain health over time. The 23andMe Research Team is committed to supporting researchers while protecting the privacy of our customers and research participants.



<h2 class="wp-block-heading" id="h-lrrk2-study">LRRK2 Study</h2>



Recently, 23andMe published findings focusing on those with the <a href="https://academic.oup.com/brain/article/147/6/1996/7676517?login=false">LRRK2 variant and Parkinson&#8217;s.</a> The study highlights how the disease affects people differently. What more can you say about LRRK2 and how the disease doesn&#8217;t necessarily affect all people similarly?



23andMe PD Research Team: We showed that the LRRK2 G2019S variant increases one’s risk of Parkinson’s. However, not everyone with the mutation will develop Parkinson’s. Furthermore, we saw that this increased risk was partly explained by other genes. The cumulative effect of these other genes, called a polygenic risk score, further explained this variability in Parkinson’s risk in LRRK2 G2019S carriers. Therefore, LRRK2 can affect people differently, and this has to do with both our background genetic makeup and our environment.



<h2 class="wp-block-heading" id="h-research-participants">Research Participants</h2>



All our work is possible because people with Parkinson&#8217;s have chosen to participate in this research. We also have about 12 million customers who&#8217;ve consented to participate in research. What would you like to say to those people with Parkinson&#8217;s who are research participants? What about those who do not have Parkinson&#8217;s? How is their participation helpful for what you do?



23andMe PD Research Team: We want to thank all of our customers for taking the time to participate in 23andMe research. Without you, progress in Parkinson’s research would not be possible. Genetic analyses require thousands of research participants to glean robust insights. We&#8217;re grateful to have such an engaged customer base committed to research. We want everyone to access, understand, and benefit from the human genome. This all starts with research.



<h2 class="wp-block-heading" id="h-motivation">Motivation</h2>



Many of us here at 23andMe have family members who are living with or lived with Parkinson&#8217;s disease. Does that help motivate you to do the research you are doing?



23andMe PD Research Team: Absolutely. One of our core values is ‘behind every data point is a human being.’ That comes naturally when so many of us have personal connections to PD. Research in service of better quality of life and treatment options for people just like our loved ones is our North Star.



<h2 class="wp-block-heading" id="h-the-value-of-knowing">The Value of Knowing</h2>



We also know 23andMe customers are interested in their Genetic Health Risk report on Parkinson’s Disease. Not everyone wants to learn this information. However for those who do, what do you see as the value of learning that you may have a genetic risk for Parkinson’s disease?&nbsp;



23andMe PD Research Team: The benefits for those who learn about their genetic risk can be tangible. Knowing genetic risk can lead to more proactive health monitoring and early detection. Also, individuals with a known genetic predisposition to PD may consider genetic counseling to understand the implications for their children and other family members. Finally, some individuals find value in being mentally and emotionally prepared for the possibility of developing Parkinson’s disease.

A New Era for Parkinson’s Research

We all have a story or an accumulation of stories that make us who we are. It&#8217;s part of being human. It&#8217;s in our DNA. If those stories vanish, what are we then?&nbsp;



<h2 class="wp-block-heading" id="h-six-million-living-with-alzheimer-s-disease">Six Million Living with Alzheimer&#8217;s Disease</h2>



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="200" height="300" src="http://35.88.189.111/wp-content/uploads/2024/07/Rebecca-Jones-200x300.jpg" alt="A photo of Rebecca Jones." class="wp-image-33172" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/07/Rebecca-Jones-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2024/07/Rebecca-Jones.jpg 426w" sizes="auto, (max-width: 200px) 100vw, 200px" /></figure>



More than <a href="https://www.alz.org/alzheimers-dementia/facts-figures#:~:text=More%20than%206%20million%20Americans%20of%20all%20ages%20have%20Alzheimer's,older%20(10.7%25)%20has%20Alzheimer's.">six million people in the United States live with Alzheimer&#8217;s disease</a>. A condition that cruelly extinguishes memories one by one—everything from the memory of holding a child for the first time to the touch of a fleeting lost love or the bracing courage we felt when we stood up for ourselves. With Alzheimer&#8217;s disease, those memories vanish until you have no stories left.&nbsp;



Not too long ago, I learned from a 23andMe genetic test that I carry the ?4 variant in the APOE gene, predisposing me toward late-onset Alzheimer&#8217;s disease.* Seeing &#8220;increased risk&#8221; in writing shook me, but it wasn&#8217;t surprising. Three of my aunts on my father&#8217;s side died of Alzheimer&#8217;s disease. After a series of follow-up visits with doctors, confirmatory testing, and then brain scans, I learned that I had early signs of Alzheimer’s disease. Soon after learning all this, I became part of a clinical trial and was among the first wave of patients treated with Eisai and Biogen’s newly approved drug, <a href="https://www.statnews.com/2024/05/09/alzheimers-leqembi-eisai-biogen-hurdles/">Leqembi.</a>



<h2 class="wp-block-heading" id="h-my-story">My Story</h2>



I want to share my story because I believe we should all rethink how we approach genetic testing for Alzheimer&#8217;s disease or any disease. Knowledge is power. Learning early through a consumer genetic test alerted me to a risk I didn’t know about before I was symptomatic. It was information that my doctors could follow up on, and then, miraculously, there was a clinical trial for which I was a good candidate. If I’d waited until I was symptomatic, it might have been too late.



I&#8217;m a mother of four and grandmother of ten. Before I retired, I was a marketing manager for a pharmaceutical company focusing on oncology. Maybe that made me particularly ready to understand the importance of learning one’s genetic risk and navigating participation in a clinical trial.



<h2 class="wp-block-heading" id="h-new-treatments">New Treatments </h2>



For too long, the prognosis for people with Alzheimer’s was bleak. So much so that doctors recommended against learning of your genetic risk because, they reasoned, there was little you could do about it; learning of your risk would cause anxiety and stress. Research <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778270/">doesn&#8217;t support that</a>, but more importantly, the options for people with an early diagnosis have changed. I’m hoping that attitudes about genetic testing, or new types of <a href="https://www.washingtonpost.com/health/2022/11/17/alzheimers-blood-test-research-treatment/">blood testing</a> to identify those at risk or who may have early-stage Alzheimer’s, change as well.&nbsp;



Learning of my risk and then getting a diagnosis spurred me to action. I studied up on new research, promising treatments, and interventions that had only recently become available. Learning of my risk wasn&#8217;t easy, but I knew it was something I couldn’t ignore. I had to educate myself.



<h2 class="wp-block-heading" id="h-a-family-conversation">A Family Conversation</h2>



After I learned of my risk, I did what a lot of people do when confronted with a health issue: I talked to my family. Alzheimer&#8217;s runs in families, so this was more than just seeking counsel; I wanted my sisters and my adult children to know that the risk I faced might be something they should be aware of as well. My older sister and two of my daughters tested and learned that they, too, carry the same genetic risk. They call this the <a href="https://www.cdc.gov/cascade-testing/about/?CDC_AAref_Val=https://www.cdc.gov/genomics/disease/cascade_testing/cascade_finding.htm">cascade effect</a> of genetic testing. One family member learns of a risk and can alert other family members to a potential risk they might not have known otherwise.



Beyond talking to family, I spoke to my doctor, who fortunately didn&#8217;t just brush it off. What followed was confirmatory testing, baseline testing for cognitive impairment — I had some — and referral to a neurologist. A brain scan revealed amyloid plaque build-up, a sign of the disease. 



<h2 class="wp-block-heading" id="h-a-clinical-trial">A Clinical Trial</h2>



I learned that I had early signs of Alzheimer&#8217;s. But I also knew I was a good candidate for a drug that was in clinical trials. I volunteered. I also learned that I was the perfect candidate for the drug Leqembi. The FDA approved Leqembi to treat people with early Alzheimer&#8217;s disease as a way to slow its progression. Knowing your APOE status is recommended before treatment because individuals with two copies of the APOE e4 variant have an increased risk for side effects. My older sister and I began infusion treatments together. 



The biggest takeaway for me is that, just like with cancer, the earlier a diagnosis, the better the odds of treating Alzheimer&#8217;s. And yet, often, people only learn that they have Alzheimer&#8217;s after symptoms become hard to ignore. However, by then, the disease has already caused significant damage. 



<h2 class="wp-block-heading" id="h-the-power-of-knowing">The Power of Knowing</h2>



How many people are diagnosed with Alzheimer&#8217;s before significant cognitive impairment? Not many, unfortunately.



I was lucky. I had access to a genetic test that informed me of my risk early. I didn&#8217;t ignore it. I acted early with my doctor&#8217;s help. My hope lies in more people like me getting genetic testing, learning of their potential risk, and then following up and getting an early diagnosis. 



It&#8217;s given me the chance to use new treatments to stave off the erasure of my memories. I hope it will help prevent Alzheimer&#8217;s from robbing me of the stories that make up my life.



Rebecca Jones is a mother of four and grandmother of ten. She is retired and was formerly a marketing manager for a pharmaceutical company focused on oncology. She lives in Tulsa, Oklahoma.



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<h6 class="wp-block-heading" id="h-note">Note:</h6>



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva to report and interpret genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. 



The Late-Onset Alzheimer’s Disease genetic health risk report is indicated for reporting of the e4 variant in the APOE gene. It describes if a person has a variant associated with an increased risk of developing late-onset Alzheimer’s disease. The e4 variant included in this report is found and has been studied in many ethnicities. Detailed risk estimates have been studied the most in people of European descent.

Rebecca Jones

The Power of Knowing

Historical Matches has quickly become one of the most popular features of our 23andMe+ membership.



We&#8217;re excited to offer a sneak peek into this feature in the first of a series of expert-led discussions.



<h2 class="wp-block-heading" id="h-your-expert-guide">Your Expert Guide</h2>



This first expert session video features our most knowledgeable scientist on ancient DNA: Éadaoin Harney, PhD.



Dr. Harney has been instrumental in developing <a href="https://blog.23andme.com/articles/23andmes-historic-matches">Historical Matches</a> and other advanced ancestry features and can provide insight into how to make the most of Historical Matches. Dr. Harney explains how the technology works to identify DNA segments inherited from your ancestors that you may share with these historical and ancient individuals and offers tips on what else you can learn from these connections to the past.



Let this expert guide you and help you understand your connections to these historical individuals. Here&#8217;s a little taste of what is covered.



<h2 class="wp-block-heading" id="h-what-does-it-mean-to-have-historical-matches">What does it mean to have Historical Matches?</h2>



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<h2 class="wp-block-heading" id="h-what-is-ancient-dna">What is Ancient DNA?</h2>



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<h2 class="wp-block-heading" id="h-jurassic-park-amp-ancient-dna">Jurassic Park &amp; Ancient DNA</h2>



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<iframe loading="lazy" title="23andMe Expert Sessions: Jurassic Park and Ancient DNA" width="500" height="281" src="https://www.youtube.com/embed/sczBs3ZcrE0?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
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<h2 class="wp-block-heading" id="h-what-about-beethoven">What About Beethoven?</h2>



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Access to Historical Matches is among the many compelling reasons to <a href="https://www.23andme.com/membership/">join 23andMe+ Premium</a>.



<a href="https://you.23andme.com/historical-matches/">Join 23andMe+</a> (requires 23andMe account)

An illustration showing strand of DNA and a connection between a person and Beethoven

Learn about An Additional Benefit to 23andMe+ Premium Membership

This week, 23andMe and 20 nonprofits, advocacy groups, and research institutions launched a new Lung Cancer Genetics Study. This study unites patients, advocates, doctors, and scientists to transform our understanding of the genetics of lung cancer with the hope of advancing research toward finding a cure.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="240" height="300" src="http://35.88.189.111/wp-content/uploads/2024/07/NSCLC_960x1200-1-240x300.jpg" alt="" class="wp-image-33185" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/07/NSCLC_960x1200-1-240x300.jpg 240w, https://blogcms.23andme.com/wp-content/uploads/2024/07/NSCLC_960x1200-1-768x960.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2024/07/NSCLC_960x1200-1-819x1024.jpg 819w, https://blogcms.23andme.com/wp-content/uploads/2024/07/NSCLC_960x1200-1-704x880.jpg 704w, https://blogcms.23andme.com/wp-content/uploads/2024/07/NSCLC_960x1200-1-944x1180.jpg 944w, https://blogcms.23andme.com/wp-content/uploads/2024/07/NSCLC_960x1200-1.jpg 1920w" sizes="auto, (max-width: 240px) 100vw, 240px" /></figure>



Through this collaborative study, we aim to recruit 10,000 people diagnosed with lung cancer to participate in this crucial research that could help others in the future.



<h2 class="wp-block-heading" id="h-a-broad-collaboration">A Broad Collaboration</h2>



Those who participate will help 23andMe and collaborating organizations create a repository of genetic and other data for lung cancer research by qualified scientists. This research data could be used to better identify those at the highest risk for lung cancer and discern how genetic and lifestyle factors play a role. The study could also improve earlier detection through enhanced screening. In addition, the research could also be used to develop more personalized treatments, as genetic research can help inform more targeted therapies.



Together, we&#8217;ll learn more about the genetic factors that impact lung cancer and better identify those at the most significant risk. Ultimately, we want to advance research towards finding a cure.



“The link between genetics and lung cancer can transform our understanding of risk and treatment,” said Jill Feldman, a co-founder of the patient advocacy group<a href="https://egfrcancer.org/our-mission/"> EGFR Resisters</a>, a community of people diagnosed with and/or personally affected by EGFR-positive lung cancer.



Jill said seeing such a broad collaboration of groups supporting this study is heartening.



“For the first time, the entire lung cancer community—patients, advocates, doctors, researchers—unites to support this vital study,” said Jill.



Todd Fielder, who is active with the patient advocacy group RET Positive and is a stage 4 lung cancer patient, said the broad coalition supporting this study is motivating.



&#8220;I want to participate in research to help move science forward, to hopefully come up with new treatment options,” said Todd. “If not for myself, then for future generations.&#8221;



<h2 class="wp-block-heading" id="h-about-lung-cancer">About Lung Cancer</h2>



Lung cancer is the number one cause of cancer deaths in both men and women in the United States. In 2020, more people died from lung cancer than breast, colorectal, and prostate cancer combined, according to the<a href="https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/annual-cancer-facts-and-figures/2023/2023-cancer-facts-and-figures.pdf"> American Cancer Society Cancer Facts &amp; Figures 2023 report</a>. About one in 16 men and one in 17 women in the United States will be diagnosed with lung cancer in their lifetime, the report indicates. It is the <a href="https://www.cdc.gov/lung-cancer/statistics/">third most common form of cancer</a> in the United States, according to the Centers for Disease Control (CDC). Despite being the deadliest cancer, <a href="https://meetings.asco.org/abstracts-presentations/209631">lung cancer research is underfunded</a> compared to other cancer types. Lung cancer receives $10,000 per death in federal and non-profit cancer funding, whereas breast cancer receives $91,000 per death.



Lung cancer usually begins in the lungs as either a small cell or non-small cell cancer. These two forms grow differently and are treated differently. Although it first starts in the lungs, the cancer may spread to lymph nodes or other areas of the body, such as the brain. When a cancer spreads from one part of the body to another, it’s called metastasis.



<figure class="wp-block-image alignright size-medium"><img loading="lazy" decoding="async" width="300" height="290" src="http://35.88.189.111/wp-content/uploads/2024/07/Lung-Cancer-Enwas-300x290.png" alt="" class="wp-image-33188" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/07/Lung-Cancer-Enwas-300x290.png 300w, https://blogcms.23andme.com/wp-content/uploads/2024/07/Lung-Cancer-Enwas-768x743.png 768w, https://blogcms.23andme.com/wp-content/uploads/2024/07/Lung-Cancer-Enwas-1024x990.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2024/07/Lung-Cancer-Enwas-880x851.png 880w, https://blogcms.23andme.com/wp-content/uploads/2024/07/Lung-Cancer-Enwas.png 1156w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



While most of us know that smoking increases one’s risk, between 10–20 percent of people who develop lung cancers have never smoked or smoked less than 100 cigarettes in their lifetime. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11014425/">Two-thirds</a> of these people are women. Researchers at Harvard made an interesting finding among lung cancer patients who never smoked. Still, they had a family history of lung cancer, pointing to a specific genetic mutation in the epidermal growth factor receptor gene, EGFR. Published in the scientific journal <a href="https://pubmed.ncbi.nlm.nih.gov/16258541/">Nature Genetics</a>, the study found that an EGFR mutation that is present in many patients&#8217; tumors increases the risk of developing lung cancer when it is inherited genetically. It has been estimated that this EGFR T790M mutation is a major cancer predisposition gene, with carriers having an estimated <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509739/">31% risk of developing lung cancer.</a>



In fact, there are many factors, both genetic and non-genetic, that can contribute to lung cancer risk that are not related to smoking. Environmental exposures, other health conditions, lifestyle, and genetics can all play a role. Internal 23andMe data found that a family history of lung cancer, along with different types of allergies or rhinitis, the stuffed or dripping nose caused by allergies, were all associated with lung cancer, but that association does not mean that they were causal.



<h2 class="wp-block-heading" id="h-environmental-factors-in-lung-cancer-risk">Environmental Factors in Lung Cancer Risk</h2>



Air pollution also contributes to the development of lung cancer. One study published in the academic journal <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614604/#SD1">Nature</a> found that higher rates of air pollution known as PM2.5 are associated with higher rates of lung cancer with mutations in the EGFR gene. The researchers also showed that air pollution may contribute to lung cancer development by helping push lung cells with cancer-causing EGFR mutations over the edge from precancerous to cancerous. Cases of lung cancer are unevenly distributed throughout the United States, with much of the difference between states attributed to factors such as tobacco addiction. Interestingly, however, many areas with higher lung cancer rates also have <a href="https://www.nejm.org/doi/full/10.1056/NEJMoa1702747">high levels of PM2.5 air pollution</a>, underscoring the complex relationship between our health and lifestyle factors, socioeconomic factors, and environmental exposures.



<figure class="wp-block-image aligncenter size-full is-resized"><img loading="lazy" decoding="async" width="512" height="317" src="http://35.88.189.111/wp-content/uploads/2024/07/Lung-Cancer-Rate-by-State.png" alt="" class="wp-image-33187" style="width:512px;height:auto" srcset="https://blogcms.23andme.com/wp-content/uploads/2024/07/Lung-Cancer-Rate-by-State.png 512w, https://blogcms.23andme.com/wp-content/uploads/2024/07/Lung-Cancer-Rate-by-State-300x186.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



State by State Cancer rate per 100,000 people. Source: U.S. Cancer Statistics Working Group. https://www.cdc.gov/cancer/dataviz, released in June 2024.



While the genetics of lung cancer are not yet well understood, it’s estimated that <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681406/">up to 15% of people</a> diagnosed with lung cancer may have DNA variants linked to cancer development. One study of 5000 people diagnosed with lung cancer in Utah found that those with a family history of lung cancer in their immediate family (like parents, siblings, or children) <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6592768/">were more than twice as likely</a> to be diagnosed with lung cancer as people with no family history. The risk generally increased with the number of diagnosed family members. Even individuals with only second or third-degree relatives affected by lung cancer were at higher risk. (Second-degree relatives include family members like grandparents, aunts, uncles, nieces, nephews, and half-siblings; third-degree relatives include family members like great-grandparents, great-aunts, great-uncles, and first cousins.)&nbsp;



Understanding more about the role that both the environment and genetics play in lung cancer will help scientists work to develop new and more personalized therapies. This is particularly true for people who develop lung cancer at an early age or who don’t have known risk factors such as smoking history or <a href="https://www.epa.gov/radon/health-risk-radon#iowa">radon exposure</a>, which is another known cause of lung cancer.



<h2 class="wp-block-heading" id="h-more-about-the-lung-cancer-genetics-study">More about the Lung Cancer Genetics Study</h2>



Like all 23andMe research, a research ethics committee will oversee the Lung Cancer Genetics Study. In the United States, this is called an Institutional Review Board (IRB), which is an independent ethics panel that ensures research is conducted in accordance with government and ethical guidelines.



23andMe’s unique research platform — its ability to enroll participants online — makes it ideal for this study. The de-identified data from this study will be made available to approved researchers and to approved nonprofit researchers and institutions at no cost. Along with de-identified genetic data, the scientific database will include data from surveys on participants&#8217; lung cancer experience and, in some cases, data from medical records and tumor testing.



The Lung Cancer Genetics Study is made possible by Troper Wojcicki Philanthropies.



To learn more about the study, our collaborators, and eligibility criteria, visit the <a href="https://enroll.23andme.com/research/lung-cancer/identity/">Lung Cancer Genetics Study landing page</a>.

An image of 23andMe's Lung Cancer Study logo

Latest Posts — Page 15