This week, we released a new report powered by 23andMe research on attention deficit/hyperactivity disorder (ADHD) for 23andMe+ Premium members.



<h6 class="wp-block-heading" id="h-what-is-adhd">What is ADHD?</h6>



ADHD is caused by differences in the brain that can affect attention, working memory, and something called “executive function” or the way the brain prioritizes or manages thoughts and behaviors. These differences can contribute to things like feeling restless, frequently losing things, difficulty completing tasks or projects, difficulty concentrating, forgetting important things, and/or difficulty coping with intense emotions. But these characteristics can show up differently in different people.



While anyone may occasionally experience those feelings or impulses, for those with ADHD these characteristics persist over time and can impact other areas of life like their ability to study, work and interact with others.



ADHD can also impact one’s health. Those with ADHD may be more likely to experience sleep disorders, for instance, mental health conditions like anxiety or depression, or substance abuse issues. But many people with ADHD report that there are also positive effects of having ADHD including being adventurous, creative, and hyper focused.



<h6 class="wp-block-heading">Prevalence</h6>



ADHD is most often diagnosed in children, but it could affect people of any age.



Just under 10 percent of children have been diagnosed with ADHD, according to the<a href="https://www.cdc.gov/ncbddd/adhd/data.html"> Centers for Disease Control and Prevention</a>. It’s almost twice as likely to be diagnosed in boys, with about 13 percent of boys having an ADHD diagnosis compared to about 6 percent of girls. However, it’s not clear whether boys more frequently experience ADHD, because <a href="https://chadd.org/for-adults/women-and-girls/">ADHD may be harder to recognize in girls compared to boys</a>. It is challenging to get an accurate estimate of ADHD prevalence in adults but one 2006 study by researchers at<a href="https://ajp.psychiatryonline.org/doi/full/10.1176/ajp.2006.163.4.716"> Harvard Medical School’s Department of Public Health</a> estimated that it affects 4 percent of adults. However <a href="https://chadd.org/for-adults/diagnosis-of-adhd-in-adults/">other studies</a> have found the prevalence to be even higher.



23andMe’s report is focused on adults and does not look at diagnosis of ADHD in childhood.



<h6 class="wp-block-heading">Our new report</h6>



23andMe’s new Attention Deficit/Hyperactivity Disorder report is powered by data from people who have consented to participate in 23andMe research. The report uses machine learning techniques to estimate an individual’s likelihood of being diagnosed with ADHD.



This estimate is made using a statistical model that includes thousands of genetic markers and information on an individual’s ethnicity and birth sex. You can learn more about the science and methodology behind our new report in this <a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf">white paper</a>.



<h6 class="wp-block-heading">Genetic factors</h6>



Based on<a href="https://pubmed.ncbi.nlm.nih.gov/24107258/"> a large twin study</a>, it is estimated that about 70-80 percent of the chances of developing ADHD may be explained by genetic factors. Scientists are still learning more about the genes involved and about other factors that may be involved in ADHD predisposition.



<h6 class="wp-block-heading">Living with ADHD</h6>



When characteristics of ADHD become problematic, they can be managed with medication, or with accommodations at the workplace or school. In addition, having support from a psychotherapist or counselor, who can offer behavioral strategies can also help.



Strategies that many people with ADHD find helpful include tools used to help in organizing time or space. Improving sleep can also go a long way toward helping alleviate problems, so it’s often a good first problem to tackle. To address sleep issues, those with ADHD have been helped by improving sleep habits, better bedtime routines, and limits on screen time before bedtime, for instance, but if that’s not enough additional treatment may be needed.



In addition, for people who want to support others with ADHD, a good first step is educating yourself about ADHD and learning how to adjust your actions and communication style to better accommodate their needs.



As we mentioned above, many people with ADHD find the focus in medical research on the negative impacts are often more related to external standards imposed by society. Finding ways to adapt schools, workplaces or other institutions to accommodate those with ADHD would help reduce the challenges that people with ADHD may face. It’s also important to know that recent studies looking at perspectives from those with ADHD found that a majority said there were many positive aspects of having ADHD. Among the traits they saw as positive were their drive, adventurousness, creativity, flexibility, hyper-focus and willingness to assist others.



<h6 class="wp-block-heading">Learn more</h6>



23andMe’s new Attention Deficit/Hyperactivity Disorder (powered by 23andMe Research) is available to all annual members of the 23andMe+ Premium Membership.



To view your report, go <a href="https://you.23andme.com/reports/prs.adhd/" target="_blank" rel="noreferrer noopener">here</a>.&nbsp;&nbsp;



Want to join our <a href="https://www.23andme.com/membership/">23andMe+ Premium Membership</a>?



Find out more <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">here</a>.

An image announcing 23andMe+'s new ADHD report

23andMe Blog

23andMe Blog Team

New 23andMe+ Premium Report on Attention Deficit/Hyperactivity Disorder

We often hear that heart disease is the <a href="https://www.cdc.gov/heart-disease/data-research/facts-stats/">leading cause of death in the United States</a>. This statistic is especially top of mind during February, which is American Heart Month and Heart Month in many other countries. But did you know that <a href="https://pubmed.ncbi.nlm.nih.gov/38264914/">~50% of adults over 40 may have hidden heart disease</a>, and <a href="https://www.sciencedaily.com/releases/2019/01/190131084238.htm">80% of cardiovascular disease is preventable</a>?



For those looking to take control of their heart health, learning about your risk factors, including what your genetics might say about your risk, is an important first step. 23andMe offers four kinds of genetic reports related to heart health:



Genetic Health Risk Reports*: Rare genetic variants that lead to high risk for heart attack, heart failure, and/or stroke. Included in the Health + Ancestry, 23andMe+ Premium, and Total Health services



<ul class="wp-block-list">
<li>Familial Hypercholesterolemia</li>



<li>Hereditary Amyloidosis (TTR-Related)</li>
</ul>



<a href="https://blog.23andme.com/articles/after-the-click-paulo">Learn what Paulo did after finding out he had a genetic variant in the TTR gene</a>



Polygenic Risk Scores*: Combinations of common genetic variants that impact the chances of developing heart-related conditions and traits. Included in the 23andMe+ Premium and Total Health



<ul class="wp-block-list">
<li>Atrial Fibrillation</li>



<li>Coronary Artery Disease</li>



<li>High Blood Pressure</li>



<li>LDL Cholesterol</li>



<li>HDL Cholesterol</li>



<li>Triglycerides</li>



<li>Type 2 Diabetes (also included in the Health + Ancestry service)</li>
</ul>



Pharmacogenetics Reports**: Genetic variants that impact how your body may process certain heart-related medications. Included in 23andMe+ Premium and Total Health



<ul class="wp-block-list">
<li>SLCO1B1 Drug Transport
<ul class="wp-block-list">
<li>Simvastatin Medication Insight</li>
</ul>
</li>



<li>CYP2C19 Drug Metabolism
<ul class="wp-block-list">
<li>Clopidogrel Medication Insight</li>
</ul>
</li>
</ul>



Exome-based Reports for Total Health™ members?: Comprehensive genetic screen of high-impact, actionable genetic variants associated with arrhythmia syndromes, aortic and other blood vessel syndromes, cardiomyopathies, and high cholesterol and heart attack.



<ul class="wp-block-list">
<li>Hereditary Cardiovascular Disease (44 genes tested)</li>
</ul>



While genetics influences the likelihood of developing heart disease, lifestyle—<a href="https://blog.23andme.com/articles/genetics-and-a-healthy-heart">diet, exercise, sleep and stress</a>—often plays an outsized role in heart health. While you can’t change your genetics, you can do a lot to protect the health of your heart by changing your lifestyle. Cutting out smoking, reducing stress, exercising more, and eating right can go a long way towards keeping your heart healthy.



Finally, getting <a href="https://www.heart.org/en/health-topics/consumer-healthcare/what-is-cardiovascular-disease/heart-health-screenings">regular recommended screenings</a> for things like your cholesterol and blood pressure can help you know where your current heart health stands, and if there may be any lifestyle or other changes you may need to make. In addition to these common biomarkers, advanced blood tests for heart health can include other lipids associated with increased risk of heart disease, including:&nbsp;



<ul class="wp-block-list">
<li>Apolipoprotein B (ApoB). The main protein in several types of &#8220;bad&#8221; cholesterol, including LDL.</li>



<li>Lipoprotein (a) (Lp(a)). A type of LDL &#8220;bad&#8221; cholesterol. Lp(a) particles are considered the most &#8220;sticky&#8221; and therefore most likely to cause blockages. </li>
</ul>



While heart disease remains the leading cause of death in the United States, understanding and managing your heart health is within your control. By learning about your genetic risks, adopting a heart-healthy lifestyle, and monitoring key biomarkers, you can significantly reduce your chances of developing cardiovascular conditions. Taking action today can pave the way for a healthier tomorrow, and with the right tools and knowledge, you can take charge of your heart health at any age.



Disclaimers:



*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet FDA requirements for genetic health risks and PRS reports which are based on a genetic model that includes data and insights from 23andMe consented research participants, and have 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. Each PRS report describes if a person has a certain likelihood of developing a condition, but does not describe a person’s overall likelihood. 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:. These reports are for over-the-counter use by adults, and provide genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. For important information and limitations regarding genetic health risk reports, visit 23andme.com/test-info/.



**23andMe PGS Pharmacogenetics reports: The 23andMe test uses qualitative genotyping to detect 3 variants in the CYP2C19 gene, and 1 variant in the SLCO1B1 gene in the genomic DNA of adults from saliva for the purpose of reporting and interpreting 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. 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. Our SLCO1B1 Pharmacogenetics report provides certain information about variants associated with the processing of some therapeutics and provides interpretive drug information regarding the potential effect of simvastatin therapy. Results for 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 Pharmacogenetic reports, visit 23andme.com/test-info/pharmacogenetics/



? Exome Sequencing and blood testing services are available to eligible customers upon completion of the intake questionnaire that must be reviewed, approved and ordered by a third-party clinician. Exome Sequencing is analyzed by a CLIA- and CAP-accredited laboratory. Blood testing is completed by Quest Diagnostics. All telehealth services are provided in accordance with the Telehealth Terms and Consent to Telehealth.

An illustration of a heart for heart health

A Healthy Heart: The Power of Genetics and Healthy Habits

This week, 23andMe updated its Carrier Status report on sickle cell anemia, an inherited red blood cell disease caused by the HbS variant in the HBB gene.



With this update, 23andMe&#8217;s Sickle Cell Anemia Carrier Status report* can now tell customers if they have two copies of the HbS variant, including what that may mean for their own health and the health of their children. Specifically, the report will inform these customers that they are at risk of developing symptoms of sickle cell anemia, and that they will pass one copy of the HbS variant on to each of their children.



&#8220;We are excited to release this updated report, which allows us to provide meaningful genetic information to a number of our customers,&#8221; said 23andMe Product Scientist Ruth Tennen. &#8220;More broadly, we hope our report can help raise awareness about sickle cell anemia, identify carriers who may otherwise not have known their status, and provide important educational information about sickle cell anemia and its health impacts.&#8221;



As part of this report update, 23andMe consulted with experts from Johns Hopkins University School of Medicine, Breaking the SSickle Cell Cycle Foundation, Morehouse School of Medicine, and the Sickle Cell Foundation of Georgia. These experts noted that the update of 23andMe’s Carrier Status report could help increase awareness about sickle cell trait and sickle cell anemia.



&#8220;23andMe is making genetic testing more accessible to anyone wanting to find out more information about their carrier status,&#8221; said Dr. Jason Payne, pediatric hematologist and sickle cell doctor at Morehouse School of Medicine.



<h6 class="wp-block-heading" id="h-what-is-sickle-cell-anemia">What is sickle cell anemia?</h6>



<a href="https://medlineplus.gov/genetics/condition/sickle-cell-disease/">Sickle cell anemia</a> is a genetic condition caused by a specific genetic variant called HbS in a gene called HBB. The <a href="https://medlineplus.gov/genetics/gene/hbb/">HBB gene</a> contains instructions for making part of the hemoglobin protein, which is found in red blood cells and transports oxygen through the body. Inheritance of two copies of the HbS variant can lead to changes in the structure of hemoglobin, in certain situations. This can cause the hemoglobin to stick together and form long, rigid molecules that distort red blood cells into a sickle (crescent) shape. These sickled cells get destroyed prematurely, leading to anemia and symptoms such as fatigue. These cells can also get stuck in small blood vessels, which can lead to pain crises, frequent infections, and complications including kidney damage, acute chest syndrome, and stroke.<a href="https://www.ncbi.nlm.nih.gov/pubmed/20301551">1</a> 



<h6 class="wp-block-heading">Who is impacted by sickle cell anemia?</h6>



Sickle cell anemia affects people around the world. It is most common in people of African descent, but it also impacts people of Middle Eastern and South Asian descent, and people from the Caribbean, the Mediterranean, and parts of Central and South America. The HbS variant that causes sickle cell anemia is most common among people with ancestry from places where malaria is endemic, as having one copy of the HbS variant (also known as having sickle cell trait) provides significant protection against severe malaria. <a href="https://www.cdc.gov/ncbddd/sicklecell/data.html">2</a> (See sidebar &#8220;History of the HbS variant.&#8221;)



23andMe&#8217;s updated Sickle Cell Anemia report can now inform customers with two copies of the HbS variant that they are at risk of developing symptoms of sickle cell anemia. These customers will also receive information about how their result may be relevant for their children and for other relatives.



<div style="float: right; text-align: justified; width: 400px; background-color: #eee; padding: 15px; margin-left: 10px;">History of the HbS variant

In 2018, scientists published a genetic study analyzing the DNA of nearly 3,000 people to trace the genetic history of sickle cell anemia. They found that the HbS variant arose once, in sub-Saharan Africa, about 7,000 years ago. As people migrated to other parts of the world, the HbS variant became more common in places where malaria-carrying mosquitoes were common, because it provided significant protection against severe malaria. Reference: Shriner D et al. (2018). &#8220;Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase.&#8221; Am J Hum Genet. 102(4):547-556. [https://pubmed.ncbi.nlm.nih.gov/29526279/] </div>



<h6 class="wp-block-heading">How sickle cell anemia is inherited</h6>



In order to have sickle cell anemia, a person must inherit two copies of the HbS variant — one from each biological parent. People with just one copy of the HbS variant are called carriers; they&#8217;re also said to have <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html">sickle cell trait</a>. They’re not expected to have sickle cell anemia themselves, and they typically do not experience any health complications. But they could pass their variant on to their future children. If their partner has the HbS variant or another variant in the HBB gene, there&#8217;s a 25 percent chance that each child may have sickle cell anemia or a related blood disorder. (See sidebar &#8220;Other Types of Sickle Cell Disease.&#8221;)



<h6 class="wp-block-heading">Why it&#8217;s important to learn about sickle cell anemia</h6>



About 1 in 13 African Americans and ~300 million people worldwide are carriers for sickle cell anemia. <a href="https://www.cdc.gov/ncbddd/sicklecell/data.html">2</a>, <a href="https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease">3</a> But individual and community awareness of sickle cell anemia and how it&#8217;s inherited is often limited.&nbsp;



For example, although all 50 U.S. states include newborn screenings for sickle cell trait and sickle cell disease, many people with sickle cell trait do not know their status, in part because it&#8217;s up to individual state health departments to <a href="https://blog.23andme.com/articles/sickle-cell-awareness">follow up</a> with those families, leading to variability in who receives their results, how they are notified, and how much follow-up education and counseling is provided. <a href="https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease">4</a> <a href="https://pubmed.ncbi.nlm.nih.gov/18200513/">5,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/33072956/">6,</a><a href="https://pubmed.ncbi.nlm.nih.gov/22261754/">7,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/29178654/">8,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/22903793/">9,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/22903793/">10</a> There are also common misunderstandings about how sickle cell anemia is inherited, the distinction between sickle cell trait and sickle cell anemia, and how common it is to be a carrier. <a href="https://pubmed.ncbi.nlm.nih.gov/16749645/">11,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/19998646/">12,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/17505208/">13,</a> <a href="https://pubmed.ncbi.nlm.nih.gov/21748660/">14</a>



<div style="float: right; text-align: justified; width: 400px; background-color: #eee; padding: 15px; margin-left: 10px;">Other types of sickle cell disease

In addition to sickle cell anemia, there are other types of sickle cell disease caused by variants in the HBB gene. Instead of having two copies of the HbS variant like people with sickle cell anemia, people with other types of sickle cell disease have one copy of the HbS variant and one copy of another variant in the HBB gene. Examples of other types of sickle cell disease include hemoglobin SC disease and sickle beta thalassemia disease.
 </div>



In addition, sickle cell anemia is often thought to be a condition that primarily impacts people with African ancestry. But the HbS variant is found around the world, including in people with ancestry from the Middle East, South Asia, the Mediterranean region of Europe, and parts of Central and South America.<a href="https://www.ncbi.nlm.nih.gov/pubmed/20301551">1,</a><a href="https://www.ncbi.nlm.nih.gov/pubmed/23103089">15</a> For this reason, the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) recently updated their carrier screening guidelines to recommend that people of all ethnicities who are considering having children should be offered carrier screening for hemoglobinopathies such as sickle cell anemia.<a href="https://pubmed.ncbi.nlm.nih.gov/34285390/">16,</a> <a href="https://www.ncbi.nlm.nih.gov/pubmed/23103089">17</a> Previously, most guidelines only recommended this type of screening for people of certain ancestries.



<h6 class="wp-block-heading">Actionable health information</h6>



Knowing if you&#8217;re a carrier for sickle cell anemia — or for another type of sickle cell disease caused by variants in the HBB gene — can be important in family planning. In addition to providing information that may be important for reproductive decision-making, carrier testing can help parents to plan for the birth of a child with the condition, and can prompt cascade testing of family members who may also have the same variant.



People with one copy of the HbS variant may also have another variant in the HBB gene, so it&#8217;s important that they talk to a healthcare professional about additional testing. In addition, in rare cases carriers for sickle cell anemia may experience some health impacts. You can learn more about sickle cell trait from the <a href="https://www.cdc.gov/ncbddd/sicklecell/traits.html">CDC</a> and the <a href="https://www.hematology.org/education/patients/anemia/sickle-cell-trait">American Society of Hematology</a>.



In addition to the Sickle Cell Anemia Carrier Status report — which can help people learn whether they are a carrier for sickle cell anemia and explore information about the health risks associated with the condition — 23andMe is working on other projects to raise awareness and improve our understanding of sickle cell anemia and sickle cell trait.&nbsp;For example, we have worked with the Breaking the SSickle Cell Cycle Foundation on an <a href="https://blog.23andme.com/articles/sickle-cell-awareness">awareness campaign</a> to increase access to sickle cell trait information, promote sickle cell disease awareness, and offer resources for individuals with sickle cell trait and sickle cell disease.



Our Research team is also working with collaborators at Johns Hopkins University School of Medicine and the National Human Genome Research Institute to <a href="https://blog.23andme.com/articles/new-research-on-sickle-cell-trait">investigate</a> potential health risks associated with having sickle cell trait.



<h6 class="wp-block-heading">Want to learn more?</h6>



The updated Sickle Cell Anemia Carrier Status report is available to 23andMe Health + Ancestry Service customers. Customers with two copies of the HbS variant who were genotyped after November 2013 will now receive information about their risk of developing symptoms of sickle cell anemia. Customers on all genotyping platforms can learn whether they are carriers for the HbS variant.



Acknowledgements: We are incredibly grateful to the following individuals for their valuable input on the updated report: Rakhi P. Naik, MD, MHS, Johns Hopkins University School of Medicine; Dr. Lametra Scott, Breaking the SSickle Cell Cycle Foundation; Dr. Herman Taylor, Dr. Tennille Leak-Johnson, and Dr. Jason Payne from the Morehouse School of Medicine; and Jacquelyn George, MPH, Jeanette Nu’Man, MEd, and Kadeem Harrison from the Sickle Cell Foundation of Georgia. We also thank the 23andMe employees who worked to make this update possible. This includes members of the Product R&amp;D, Medical Affairs, Research, Regulatory, Quality Assurance, Engineering, Legal, Customer Care, Product, Marketing, and Communications teams who contributed to the development and release of the report, as well as the members of 23andMe&#8217;s Sickle Cell Carrier Status Awareness Program core team.



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



*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future or anything about the health of your fetus, or your newborn child&#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. The Sickle Cell Anemia carrier status report is indicated for the detection of the HbS variant in the HBB gene. The report can tell you if you have two copies of the tested variant, and if you are at risk of developing symptoms of sickle cell anemia, but does not describe your overall risk of developing symptoms. This test is most relevant for people of African descent. It is also relevant for people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.



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



<h6 class="wp-block-heading">References</h6>



[1] Bender MA et al. (2003). &#8220;Sickle Cell Disease.&#8221; [Accessed Oct 11, 2022]. [<a href="https://www.ncbi.nlm.nih.gov/pubmed/20301551">https://www.ncbi.nlm.nih.gov/pubmed/20301551</a>]&nbsp;



[2] Centers for Disease Control and Prevention. &#8220;Data &amp; Statistics on Sickle Cell Disease.&#8221; Retrieved Sep 16, 2022, from https://www.cdc.gov/ncbddd/sicklecell/data.html [<a href="https://www.cdc.gov/ncbddd/sicklecell/data.html">https://www.cdc.gov/ncbddd/sicklecell/data.html</a>]&nbsp;



[3] Cleveland Clinic. &#8220;Sickle Cell Disease.&#8221; Retrieved Jan 6, 2023, from https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease [<a href="https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease">https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease</a>]&nbsp;



[4] Harrison SE et al. (2017). &#8220;Knowledge and Awareness of Sickle Cell Trait Among Young African American Adults.&#8221; West J Nurs Res. 39(9):1222-1239. [<a href="https://pubmed.ncbi.nlm.nih.gov/27550467/">https://pubmed.ncbi.nlm.nih.gov/27550467/</a>]



[5] Kavanagh PL et al. (2008). &#8220;Communication of positive newborn screening results for sickle cell disease and sickle cell trait: variation across states.&#8221; Am J Med Genet C Semin Med Genet. 148C(1):15-22. [<a href="https://pubmed.ncbi.nlm.nih.gov/18200513/">https://pubmed.ncbi.nlm.nih.gov/18200513/</a>]



[6] El-Haj N et al. (2018). &#8220;Newborn Screening for SCD in the USA and Canada.&#8221; Int J Neonatal Screen. 4(4):36. [<a href="https://pubmed.ncbi.nlm.nih.gov/33072956/">https://pubmed.ncbi.nlm.nih.gov/33072956/</a>]



[7] La Pean A et al. (2012). &#8220;A qualitative secondary evaluation of statewide follow-up interviews for abnormal newborn screening results for cystic fibrosis and sickle cell hemoglobinopathy.&#8221; Genet Med. 14(2):207-14. [<a href="https://pubmed.ncbi.nlm.nih.gov/22261754/">https://pubmed.ncbi.nlm.nih.gov/22261754/</a>]



[8] Creary S et al. (2017). &#8220;Sickle cell trait knowledge and health literacy in caregivers who receive in-person sickle cell trait education.&#8221; Mol Genet Genomic Med. 5(6):692-699. [<a href="https://pubmed.ncbi.nlm.nih.gov/29178654/">https://pubmed.ncbi.nlm.nih.gov/29178654/</a>]



[9] Moseley KL et al. (2013). &#8220;Who counsels parents of newborns who are carriers of sickle cell anemia or cystic fibrosis?&#8221; J Genet Couns. 22(2):218-25. [<a href="https://pubmed.ncbi.nlm.nih.gov/22903793/">https://pubmed.ncbi.nlm.nih.gov/22903793/</a>]



[10] &#8220;The current state of sickle cell trait: implications for reproductive and genetic counseling.&#8221; Hematology Am Soc Hematol Educ Program. 2018(1):474-481. [<a href="https://pubmed.ncbi.nlm.nih.gov/30504348/">https://pubmed.ncbi.nlm.nih.gov/30504348/</a>]



[11] Treadwell MJ et al. (2006). &#8220;Using qualitative and quantitative strategies to evaluate knowledge and perceptions about sickle cell disease and sickle cell trait.&#8221; J Natl Med Assoc. 98(5):704-10. [<a href="https://pubmed.ncbi.nlm.nih.gov/16749645/">https://pubmed.ncbi.nlm.nih.gov/16749645/</a>]



[12] Acharya K et al. (2009). &#8220;A pilot study to explore knowledge, attitudes, and beliefs about sickle cell trait and disease.&#8221; J Natl Med Assoc. 101(11):1163-72. [<a href="https://pubmed.ncbi.nlm.nih.gov/19998646/">https://pubmed.ncbi.nlm.nih.gov/19998646/</a>]



[13] Gustafson SL et al. (2007). &#8220;Health beliefs among African American women regarding genetic testing and counseling for sickle cell disease.&#8221; Genet Med. 9(5):303-10. [<a href="https://pubmed.ncbi.nlm.nih.gov/17505208/">https://pubmed.ncbi.nlm.nih.gov/17505208/</a>]



[14] Long KA et al. (2011). &#8220;Attitudes and beliefs of African-Americans toward genetics, genetic testing, and sickle cell disease education and awareness.&#8221; J Genet Couns. 20(6):572-92. [<a href="https://pubmed.ncbi.nlm.nih.gov/21748660/">https://pubmed.ncbi.nlm.nih.gov/21748660/</a>]



[15] Piel FB et al. (2013). &#8220;Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates.&#8221; Lancet. 381(9861):142-51. [<a href="https://www.ncbi.nlm.nih.gov/pubmed/23103089">https://www.ncbi.nlm.nih.gov/pubmed/23103089</a>]&nbsp;



[16] Gregg AR et al. (2021). &#8220;Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).&#8221; Genet Med. 23(10):81793-1806. [<a href="https://pubmed.ncbi.nlm.nih.gov/34285390/">https://pubmed.ncbi.nlm.nih.gov/34285390/</a>]&nbsp;&nbsp;



[17] American College of Obstetricians and Gynecologists. (2022). &#8220;Practice Advisory: Hemoglobinopathies in Pregnancy.&#8221; Retrieved Oct 11, 2022, from https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy [<a href="https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy">https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy</a>]&nbsp;

23andMe Updates Carrier Status Report on Sickle Cell Anemia

<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="512" height="266" src="http://35.88.189.111/wp-content/uploads/2023/01/Preeclampsia-main-image.png" alt="" class="wp-image-31056" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/01/Preeclampsia-main-image.png 512w, https://blogcms.23andme.com/wp-content/uploads/2023/01/Preeclampsia-main-image-300x156.png 300w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>



This week, we released a new report powered by 23andMe research on preeclampsia for 23andMe+ members.



Preeclampsia is a pregnancy complication that causes persistent high blood pressure and, in some cases, injury to organs like the liver and kidney.



It’s diagnosed based on a combination of high blood pressure, other symptoms, and abnormal lab tests, such as elevated protein levels in the urine.



<h2 class="wp-block-heading" id="h-what-is-preeclampsia">What is preeclampsia?</h2>



Preeclampsia affects about 4% of pregnancies in the United States and up to<a href="https://my.clevelandclinic.org/health/diseases/17952-preeclampsia"> 8% of pregnancies</a> worldwide.



Onset and severity can vary greatly. Typically, it develops in the second half of pregnancy and resolves after delivery, although some cases may develop postpartum.



<h2 class="wp-block-heading" id="h-signs-and-symptoms">Signs and symptoms</h2>



Preeclampsia does not always cause symptoms. If symptoms are present, they may be difficult to distinguish from normal pregnancy experiences like fatigue and swelling.



Signs of the condition include:



<ul class="wp-block-list">
<li>Severe headache</li>



<li>Changes in vision</li>



<li>Abdominal pain</li>



<li>Agitation or confusion</li>



<li>Shortness of breath</li>
</ul>



Factors that impact the likelihood of developing preeclampsia include genetics, personal or family history of the condition, having other health conditions like high blood pressure, diabetes, or chronic kidney disease, first pregnancy, pregnancy from in vitro fertilization, or pregnancy with multiple babies.



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="305" height="426" src="http://35.88.189.111/wp-content/uploads/2023/01/preeclampsia-symptoms.png" alt="" class="wp-image-31057" srcset="https://blogcms.23andme.com/wp-content/uploads/2023/01/preeclampsia-symptoms.png 305w, https://blogcms.23andme.com/wp-content/uploads/2023/01/preeclampsia-symptoms-215x300.png 215w" sizes="auto, (max-width: 305px) 100vw, 305px" /></figure>



Being over the age of 35 and being of African or African American descent can also increase the chance of developing the condition.



<h2 class="wp-block-heading" id="h-a-new-report">A new report</h2>



Our new report is powered by data from people who have consented to participate in 23andMe research and uses machine learning techniques to estimate an individual’s likelihood of developing preeclampsia.



This estimate uses a statistical model that includes 14,462 genetic markers and information on an individual’s ethnicity and birth sex. This white paper explains the science and methodology behind our new report.



<h2 class="wp-block-heading" id="h-long-term-health-impacts">Long-term health impacts</h2>



Having preeclampsia puts you at a higher risk of developing it in the future during subsequent pregnancies.&nbsp;



The condition is also associated with a long-term increased risk of developing high blood pressure, heart disease, and kidney disease for the parent.



<h2 class="wp-block-heading" id="h-treatment">Treatment</h2>



Preeclampsia requires monitoring through pregnancy, delivery, and postpartum period to minimize health impacts for both the parent and child.



Depending on the severity and timing of the condition, the most effective treatment is often consideration of early delivery via induction or cesarean section.



<h2 class="wp-block-heading" id="h-prevention">Prevention</h2>



While there is no proven way to prevent preeclampsia, healthy lifestyle habits can help manage blood pressure.



<ul class="wp-block-list">
<li>Get active. Establish a regular exercise routine before pregnancy and talk to your doctor about how to stay active during pregnancy</li>



<li>Maintain a healthy weight before pregnancy, and if you are pregnant, talk to your doctor about healthy weight gain during pregnancy</li>



<li>Eat a low-sodium, heart-healthy diet</li>



<li>Limit caffeine and alcohol consumption</li>



<li>Try to get enough sleep</li>



<li>Avoid smoking</li>
</ul>



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



23andMe’s new preeclampsia report (powered by 23andMe Research) is available to all annual members of the 23andMe+ Membership. To view your report, go<a href="https://you.23andme.com/reports/prs.preeclampsia/"> here</a>.&nbsp;&nbsp;



Want to join our 23andMe+ Membership?



Find out more <a href="https://www.23andme.com/membership/">here</a>.

New 23andMe+ Report on Preeclampsia

Family members share DNA and have other things in common, like where they live, what they eat, or how active they are. All these factors can play a role in determining health, making knowing your family health history important. It&#8217;s important to acknowledge that depending on family circumstances, not everyone has access to their family health history. Still, there is a lot of value in understanding how it can benefit you. 



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So, what do we mean when we refer to your family health history? This is an actual record of current and past medical conditions for you, your biological family, and your healthcare provider to use to manage your health. 



<h2 class="wp-block-heading" id="h-why-is-a-family-health-history-important">Why is a family health history important?</h2>



This one is easy!&nbsp;



Health conditions can run in families. Knowing your family health history can help a doctor, clinician, or other healthcare professional understand your risk of developing certain conditions.&nbsp;



Family health history helps them decide how often you need checkups and other preventative screenings. Some people, like 23andMe customers <a href="https://blog.23andme.com/23andme-customer-stories/health-inspiration/">Mary</a> and <a href="https://blog.23andme.com/health-traits/healthier-every-day/">Tracy</a>, have been inspired to make positive lifestyle changes after learning more about their family history.



<h2 class="wp-block-heading">What type of medical information matters?</h2>



Gathering family health history is central to a genetic counseling session. A genetic counselor might ask about relatives in four generations of your family. Starting with you, they might ask about your parents, grandparents, children, siblings, half-siblings, aunts, uncles, and first cousins. The names of any medical conditions and the general age of diagnosis are collected. 



If you are gathering this information and you or someone in the family does not know the official medical term or the exact age when conditions were diagnosed, use your best guess. Family health history is kinetic, and you can expect to update it over time. 



<h2 class="wp-block-heading">How do you talk to relatives about medical history?</h2>



Medical history can be a sensitive topic. Talking about family health history might be more challenging for some people and some families. Read <a href="https://blog.23andme.com/articles/four-tips-for-talking-to-relatives-about-medical-history">these tips</a> on how to approach family health questions in a careful and considerate way.



<h2 class="wp-block-heading">What about adoptees and donor-conceived individuals?</h2>



If you’re adopted or donor-conceived, your family health history might be limited or take more time to collect. This is where other information, like that from 23andMe, can help<a href="https://blog.23andme.com/ancestry-reports/dna-testing-for-adoptees/"> fill in gaps for adoptees</a> and others. Access to a more complete and accurate family health history is important to many people. In fact, it can be the main reason some, including adoptees and those who are donor-conceived, decide to start searching for DNA relatives.&nbsp;



<h2 class="wp-block-heading" id="h-what-do-you-do-with-your-family-health-history-once-you-have-it">What do you do with your family health history once you have it?</h2>



A  family health history gathers information about genetics, lifestyle, and environment in one place. Learning more about the medical history of your close relatives can give you insights into what conditions could be common in your family and can help you make healthier choices. Just remember to talk to a healthcare professional before making any changes. Learn more about genetic counseling and how <a href="https://blog.23andme.com/articles/genetic-counselors-and-their-roles-at-23andme/">genetic counselors at 23andMe</a> work at a broader level to help. 



<h6 class="wp-block-heading">How can using 23andMe help?</h6>



23andMe’s Family Health History Tree for Health + Ancestry Service customers also record and preserve that history. (The Family Health History Tree is only available for Health + Ancestry Service customers in the United States and Canada.) Like any family tree, this one visually represents how you connect to different relatives. But this tree allows you to include medical conditions, offering you a visual record of current and past health issues for you and your close relatives. 23andMe’s Family Health History Tree gives you a place to record information you can share with your healthcare provider to help you manage your health.



Not yet a customer? Find out more<a href="https://www.23andme.com/dna-health-ancestry?fhht=v1"> here</a>.



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



<div class="wp-block-group has-tertiary-background-color has-background has-medium-font-size is-layout-flow wp-container-core-group-is-layout-19e44a71 wp-block-group-is-layout-flow" style="border-width:10px;border-radius:15px;padding-top:var(--wp--preset--spacing--20);padding-right:var(--wp--preset--spacing--20);padding-bottom:var(--wp--preset--spacing--20);padding-left:var(--wp--preset--spacing--20)">
<h6 class="wp-block-heading">Need some help jogging your memory or a list of conditions to take to family?</h6>



Here are common examples of several types of health conditions:



<div class="wp-block-group is-layout-constrained wp-container-core-group-is-layout-e88e289f wp-block-group-is-layout-constrained">
•Chronic health conditions — Examples: type 1 and type 2 diabetes, asthma, allergies, cancer, heart disease, stroke, high blood pressure, high cholesterol, obesity, lung disease, kidney disease, Crohn&#8217;s disease, Alzheimer&#8217;s disease.



•Mental health conditions — Examples: depression, anxiety, alcohol and substance use disorders, schizophrenia, bipolar disorder, post-traumatic stress disorder, obsessive-compulsive disorder, and eating disorders.



•Inherited or genetic conditions — Examples: sickle cell disease, cystic fibrosis, hemochromatosis, hemophilia, muscular dystrophy, alpha-1-antitrypsin deficiency, neurofibromatosis, Huntington&#8217;s disease.



•Birth defects — Examples: cleft lip, cleft palate, spina bifida, congenital heart defects. Try asking yourself a few key questions: Does anyone in your family have any unique features? Or have anything you have ever wondered about, like having a small or short stature, or stretchy skin? Were there any early childhood deaths in your family?



•Newborn and childhood conditions&nbsp;— Examples: epilepsy/seizures, childhood cancers, sudden infant death syndrome (SIDS), failure to thrive.



•Developmental disorders, intellectual disabilities — Examples: autism spectrum disorder, developmental delays, attention-deficit hyperactivity disorder, Down syndrome, fragile X syndrome, cerebral palsy. Try asking yourself: Has anyone in your family needed special classes in school or speech therapy?



•Vision and hearing loss, physical disabilities — Examples: blindness/vision loss, deafness/hearing loss at a young age.



•Infectious diseases — Examples: malaria, hepatitis, tuberculosis, Lyme disease, infectious mononucleosis (mono). Knowing whether a family member has been exposed to an infectious disease can be valuable information to include in your family health history. Healthcare professionals can use this information when trying to understand the role genetics may, or may not, be playing in a family member&#8217;s health condition.



•Reproductive and pregnancy complications — Examples: male or female infertility, miscarriage, stillbirth, polycystic ovary syndrome (PCOS), endometriosis, sperm disorders like abnormal sperm shape or mobility, testicular disorders, varicoceles, enlarged prostate.
</div>
</div>

Making Family Health History Work for You

<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="538" src="http://35.88.189.111/wp-content/uploads/2022/12/Overview-opengraph-1024x538.png" alt="DNA helix" class="wp-image-31001" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-1024x538.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-768x403.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-880x462.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph-1180x620.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Overview-opengraph.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



The past year in genetics has held no shortage of surprises. Fossilized bone fragments helped to rewrite parts of the Neanderthal story, including how some bands migrated and lived. A team of researchers in Spain learned that doppelgangers have more in common than meets the eye. The phrase “super-dodger” officially entered the COVID-19 lexicon. A new analysis confirmed what anyone who’s ever hit a dance floor already knows–the ability to move in time to a beat is partly genetic.



From significant discoveries that moved the field forward to work that improved upon existing findings, here are some of the year’s milestones.



<h6 class="wp-block-heading" id="h-a-neanderthal-family-portrait">A Neanderthal family portrait</h6>



Deep inside a cave in southern Siberia, researchers<a href="https://www.nature.com/articles/d41586-022-03339-7"> discovered</a> the fossilized bone fragments of the first-known Neanderthal family.



DNA analysis of these fragments offered rare insights into Neanderthals’ lives – depicting their social structures, migratory patterns, and relationships.



<h6 class="wp-block-heading" id="h-are-you-a-superdodger">Are you a superdodger?</h6>



In 2022, a new term entered the COVID-19 lexicon: superdodger. A superdodger is someone who appears to have avoided COVID infection despite multiple exposures to new variants and waves.



Scientists were so puzzled by these virus evaders they began to look for<a href="https://www.npr.org/sections/goatsandsoda/2022/09/07/1121599445/so-you-havent-caught-covid-yet-does-that-mean-youre-a-superdodger"> genetic clues</a>. Research out of UCSF revealed a genetic variant in a gene called HLA that clears the virus rapidly. “The immune response gets just kind of fired up much more quickly,”<a href="https://www.npr.org/2022/09/28/1125525805/what-science-has-to-say-about-so-called-covid-superdodgers"> explained</a> Jill Hollenbach, an immunogeneticist at UCSF. “So that you basically nuke the infection before you even start to have symptoms.”



<h6 class="wp-block-heading" id="h-more-than-a-look-alike">More than a look-alike</h6>



Your doppelganger may share more than just your physical characteristics–they may also share similar DNA.



Researchers in Spain compared and analyzed the DNA of doppelgangers who had participated in a photography series on look-alikes by Canadian artist François Brunelle. They<a href="https://www.cell.com/cell-reports/fulltext/S2211-1247(22)01075-0"> found</a> that people with very similar faces also shared many of the same genetic variants.



<h6 class="wp-block-heading" id="h-you-ve-got-the-music-in-you">You’ve got the music in you</h6>



When your favorite song comes on the radio, can you tap, clap, and dance in time to its beat?



Researchers at Vanderbilt University and 23andMe<a href="https://blog.23andme.com/articles/we-got-the-beat"> found</a> more than 60 genetic links to the ability to move in time to musical rhythm – an important first step in understanding the genetic architecture of musicality.



<h6 class="wp-block-heading" id="h-polygenic-risk-scores-go-mainstream">Polygenic risk scores go mainstream</h6>



Polygenic risk scores, DNA-based tools that enhance our ability to predict the risk of common diseases, made headlines this year. Researchers worldwide developed new scores for common conditions like t<a href="https://www.frontiersin.org/articles/10.3389/fgene.2022.871260/full?&amp;utm_source=Email_to_authors_&amp;utm_medium=Email&amp;utm_content=T1_11.5e1_author&amp;utm_campaign=Email_publication&amp;field=&amp;journalName=Frontiers_in_Genetics&amp;id=871260">ype 2 diabetes</a>, <a href="https://consumer.healthday.com/polygenic-risk-score-predicts-risk-of-hip-knee-replacement-2657254383.html">knee and hip osteoarthritis</a>, <a href="https://www.ahajournals.org/doi/epdf/10.1161/CIR.0000000000001077">cardiovascular disease</a>, <a href="https://jamanetwork.com/journals/jamaophthalmology/article-abstract/2798369">glaucoma</a>, and <a href="https://www.nature.com/articles/s41588-022-01074-3">more</a>. Here at 23andMe, researchers developed scores that formed the basis for 12 new <a href="https://www.23andme.com/dna-reports-list/">reports</a>.&nbsp;



All of this work suggests that we’re closer than ever to realizing the promise of polygenic risk scores. As risk prediction continues to improve, these tools can inform treatment decisions, guide lifestyle modifications, and influence disease screening.



<h6 class="wp-block-heading" id="h-francis-collins-next-act">Francis Collins’ next act</h6>



After more than 12 years as the director of the NIH, physician-geneticist Dr. Francis Collins <a href="https://www.nih.gov/farewell-dr-francis-collins">announced</a> he would step down to return to his lab at the National Human Genome Research Institute and join President Biden’s administration as an <a href="https://nihrecord.nih.gov/2022/03/18/collins-named-acting-science-advisor-president-biden#:~:text=16%2C%20the%20White%20House%20announced,science%20advisor%20to%20President%20Biden.">acting science adviser</a>.&nbsp;



Dr. Collins brought his diplomatic skills and expertise to the job of NIH director. Highlights of his tenure include co-launching the Cancer Moonshot Initiative, which aims to speed progress in cancer research and prevention, navigating the COVID-19 pandemic, and supporting research for mRNA vaccines.



<h6 class="wp-block-heading" id="h-a-new-era-of-drug-discovery">A new era of drug discovery</h6>



A 2022 <a href="https://www.nature.com/articles/d41573-022-00120-3">study</a> found that 33 of the 50 drugs recently approved by the Food and Drug Administration were supported with genomic data – making it clear that genetic insights will play an increasingly important role in developing new therapies for people who need them most.&nbsp;



23andMe has long <a href="https://blog.23andme.com/articles/drug-discovery-explained">envisioned</a> a model of drug discovery fueled by human genetics. This year, we moved closer to making that a reality. Our therapeutics team recently initiated a <a href="https://blog.23andme.com/articles/more-on-23andmes-first-clinical-trial-of-a-potential-new-cancer-treatment">Phase 1 clinical trial </a>for a potential new cancer treatment, an immunotherapy antibody called 23ME-00610.



<h6 class="wp-block-heading" id="h-tall-order">Tall order</h6>



The <a href="https://blog.23andme.com/articles/height-gwas">largest genome-wide association study</a> ever done found nearly all the common genetic variants that explain the heritability of height among people of European ancestry, and, in the process, may have set the framework for future genetic research into other traits and diseases.



Using data from about 5.4 million individuals, almost half of whom were 23andMe customers who consented to participate in research, the GIANT study identified 12,111 variants that help explain 10 to 40 percent of all variation in height, depending on a person’s ancestry. They cluster around parts of the genome involved in skeletal growth.

The Year in Genetics

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Out with the gluten, in with the gluten-free substitutes.



That’s the new motto for Brandon Moore, who was recently diagnosed with celiac disease.



<h6 class="wp-block-heading" id="h-unexplained-symptoms">Unexplained symptoms</h6>



Brandon never knew that all the pizza, pasta, and bread that sustained him were also making him ill.



He’d experienced chronic stomach problems for as long as he could remember, but no doctor or specialist could explain them. “I have done multiple tests looking for various issues like diverticulitis and stomach ulcers,” he said. “My doctors never found anything.”



Then he received a 23andMe Health + Ancestry kit as a gift from his step-grandmother. His <a href="https://blog.23andme.com/articles/new-23andme-report-celiac-disease">23andMe Celiac Disease Genetic Health Risk report*</a> indicated that he had a slightly increased risk of developing celiac disease.&nbsp;



He mentioned his results to his doctor during a routine physical, who ordered a follow-up test. The results confirmed he had the condition.



<h6 class="wp-block-heading" id="h-a-new-lifestyle">A new lifestyle</h6>



<a href="https://www.23andme.com/topics/health-predispositions/celiac-disease/">Celiac disease</a> is an autoimmune condition in which the consumption of gluten protein – found in wheat and other grains like barley and rye –&nbsp; can result in damage to the small intestine and cause digestive and non-digestive symptoms.&nbsp;&nbsp;



The only known treatment is a gluten-free diet. So, Brandon began reading labels and avoiding everything containing gluten.&nbsp;



Within weeks of going gluten-free, he felt better. His chronic stomach problems abated. And he even began to lose weight. “I feel physically and mentally healthier than I have ever felt in my life,” he said. “I lost 50 pounds; I don’t even get colds anymore!”



Brandon has adjusted to his new gluten-free lifestyle. “I don’t take a lot of risks. It’s just not worth it,” he said. “Even a minuscule amount of gluten will upset my stomach.”



He credits his success to his wife, who helps him research and prepare food: “I couldn’t do it without her. She is my rock.”



He also enjoys introducing his friends to the wide array of gluten-free products that are now available. “We’ll have friends over, and we’ll prepare them hamburgers on gluten-free buns, and honestly, they don’t even know the difference. Everything’s pretty good now!”



<hr class="wp-block-separator has-text-color has-foreground-color has-alpha-channel-opacity has-foreground-background-color has-background"/>



*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. 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&nbsp; 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 Celiac Disease Genetic Health Risk report (i) is indicated for reporting of the rs2187668 variant in the HLA-DQA1 gene, which tags the HLA-DQ2.5 haplotype, and the rs7454108 variant near the HLA-DQB1 gene, which tags the HLA-DQ8 haplotype and (ii) describes if a person has variants associated with a higher risk of developing celiac disease. The variants included in this report are common in many ethnicities, but are best studied in people of European descent.

The Gift of Health, via a Gluten-Free Diet

Like all good Christmas stories, this one begins with a gift.



Kathy Clemenzi’s son gave her a 23andMe Health + Ancestry Kit for the holidays. He thought that Kathy, the self-appointed “family historian,” might enjoy using the kit to learn more about their ancestry and confirm some family stories passed down through the generations.



It was the perfect present.&nbsp;



“I’m always the one that looks into all the genealogy things and shares all the stories,” Kathy explained. “I even found out I’m 80 percent British and Irish – more than I expected!”



<h6 class="wp-block-heading" id="h-a-medical-mystery">A medical mystery</h6>



Diving into her family history provided a welcome distraction during a dark period in Kathy’s life. For two years, her older brother had been suffering from an unknown illness that was slowly robbing him of his ability to travel and play golf, something he loved. It left him weak and dizzy. Even the simplest movements, like walking or climbing stairs, became difficult.



<figure class="wp-block-image aligncenter is-resized"><img decoding="async" src="http://35.88.189.111/wp-content/uploads/2022/12/image0-768x1024.jpeg" alt="" class="wp-image-30937" width="509" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-768x1024.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-225x300.jpeg 225w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-660x880.jpeg 660w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0-885x1180.jpeg 885w, https://blogcms.23andme.com/wp-content/uploads/2022/12/image0.jpeg 1536w" sizes="(max-width: 768px) 100vw, 768px" /></figure>



Desperation drove him from one specialist to the next — an ear, nose, and throat physician, a cardiologist, a neurosurgeon, a pulmonologist, and finally, a neurologist. But no one could identify the cause of his decline. His doctors were stumped.



“He was disintegrating,” Kathy recalled. “And no one could figure out why.”



<h6 class="wp-block-heading" id="h-a-promising-clue">A promising clue</h6>



Then a life-changing alert appeared on Kathy’s phone.



“One day, I got a message on my phone from 23andMe about a new genetic health risk report,” she said.



She logged in and clicked on her Hereditary Amyloidosis (TTR-Related) Genetic Health Risk report* and saw that she had a variant that increased her risk of developing the condition.



“I didn’t think much of [my reports] at first,” Kathy said. But she decided to share the report with her brother, who then shared it with his neurologist at the University of Massachusetts in Worcester.



As the neurologist combed through the 23andMe reports, her eyes lit up. “I think this might be what you have,” the neurologist told him. “You need to see a geneticist.”



<h6 class="wp-block-heading" id="h-finally-a-breakthrough">Finally, a breakthrough</h6>



Genetic testing confirmed the neurologist’s hunch: Kathy’s brother had<a href="https://www.23andme.com/topics/health-predispositions/hereditary-amyloidosis/">&nbsp;TTR-related hereditary amyloidosis</a>.



TTR-related hereditary amyloidosis is a rare genetic condition caused by the build-up of a protein called transthyretin (TTR) in the body’s tissues and organs. This protein build-up, called amyloidosis, can damage the nerves, the heart, and other parts of the body.Symptoms vary widely and depend on how much–and where–the build-up of protein occurs. Because the condition can manifest in so many ways,<a href="https://www.ncbi.nlm.nih.gov/books/NBK1194/">&nbsp;misdiagnosis</a>&nbsp;is common.



<h6 class="wp-block-heading" id="h-slow-improvement">Slow improvement</h6>



A doctor referred Kathy’s brother to the Boston Amyloidosis Center, where he now receives an intravenous infusion of medication every three weeks to manage his symptoms.



“Right now there’s no cure, but he’s gained back 40 percent of his movement,” Kathy reported. Simply walking up steps or getting in and out of the car independently and other small milestones are cause for celebration.&nbsp;



“He’s getting better a little bit at a time. It’s no longer a death sentence,” she said.&nbsp;



Kathy and the rest of her siblings underwent clinical genetic testing for TTR-related hereditary amyloidosis. Her younger sister also learned that she has the same variant, which puts her at increased risk of developing the condition.&nbsp;



Though symptom-free, they travel to Boston regularly for testing and checkups. “We’re famous [at the Amyloidosis Center],” Kathy joked. “When we go, they know exactly who we are–we’re the ones with the 23andMe history!”



<h6 class="wp-block-heading" id="h-writing-a-new-chapter">Writing a new chapter</h6>



Faced with these unexpected and challenging findings, Kathy and her siblings chose to write a new chapter in their family story. And they’ll share it with anyone who will listen.&nbsp;&nbsp;



“Love of family and curiosity started this journey,” Kathy explained. “If someone else hears this story and it saves another family–why not tell it?”



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*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. 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&nbsp; 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. &nbsp;The TTR-related hereditary amyloidosis genetic health risk report is indicated for reporting of V122I, V30M, and T60A variants in the TTR gene and describes if a person has variants associated with an increased risk of developing TTR-related hereditary amyloidosis.&nbsp; The majority of the variants included in this report have been most studied in people of African Americans, West African, Portuguese, Northern Swedish, Japanese, Irish, and British descent.

A Sister’s Gift

23andMe is a gift as unique as those who receive it. It offers insights that are personal and often profound.



Throughout this holiday season, we’re highlighting a few people who shared&nbsp; how the gift of 23andMe changed their lives.



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For Christmas a few years back Jarrod and Ginger Lyle gifted each other 23andMe Health + Ancestry kits.



<h6 class="wp-block-heading" id="h-a-lifesaving-gift">A lifesaving Gift</h6>



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="728" height="1024" src="http://35.88.189.111/wp-content/uploads/2022/12/Jarrod-Ginger-728x1024.jpeg" alt="" class="wp-image-30889" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-728x1024.jpeg 728w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-213x300.jpeg 213w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-768x1080.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-626x880.jpeg 626w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger-839x1180.jpeg 839w, https://blogcms.23andme.com/wp-content/uploads/2022/12/Jarrod-Ginger.jpeg 1213w" sizes="auto, (max-width: 728px) 100vw, 728px" /><figcaption class="wp-element-caption">Jarrod &amp; Ginger</figcaption></figure>



They were both just curious about what they might learn. Ginger, a nurse, was particularly interested in exploring her health reports.



“I thought it would be interesting to see if we had anything genetic pop up that could be helpful in our future or for our three children,” Ginger said.



But neither Ginger nor Jarrod expected that their Christmas gift might have saved his life.



<h6 class="wp-block-heading" id="h-mutyh">MUTYH</h6>



Jarrod’s 23andMe reports indicated he had two variants for what is called <a href="https://www.23andme.com/topics/health-predispositions/mutyh-associated-polyposis/">MUTYH-associated polyposis.</a>* It&#8217;s an inherited condition that increases the risk for colorectal cancer. Neither of Jarrod nor Ginger had heard of it before. Being a nurse Ginger did some research. She also asked her coworkers about the condition, which is known by its acronym MAP. 



The couple quickly realized it wasn’t something that they should ignore, especially considering that Jarrod’s family had a history of colon cancer. So he followed up with his doctor.



“I just turned 43, I still had a few years to go [before regular screenings] but I thought we should go get it checked out,” Jarrod said.



<h6 class="wp-block-heading" id="h-a-healthy-future">A healthy future</h6>



The pandemic and some issues with their insurance delayed Jarrod getting in to see a specialist. But eventually he went through a series of colonoscopies where doctors found dozens of polyps that were removed, only to find more six months later. 



Each time the doctors said the polyps were benign. However, given his family’s history of colon cancer, and his genetic health risk, he decided to meet with a geneticist. Additional scans found more polyps. He discussed his options with his doctors. Jarrod decided to have his colon and rectum removed to reduce his risk for cancer.



Jarrod’s doctor believes that if he waited until he was 50 for a routine colonoscopy Jarrod would have had progressive cancer. Ginger said 23andMe turned out to be a much bigger gift than she’d ever expected.



“This test has saved my husband’s future, with myself and our children,” she said. “So thankful this was found, and my 43-year-old husband can hopefully have a healthy and long future!’



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*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, including the 23andMe PGS Genetic Health Risk Report for MUTYH-Associated Polyposis. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. The test is not intended to diagnose any disease and does not describe a person’s overall risk of developing any type of cancer. It 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 treatments. Warnings &amp; Limitations: The 23andMe PGS Genetic Health Risk Report for MUTYH-Associated Polyposis is indicated for reporting the Y179C and G396D variants in the MUTYH gene and an increased risk for colorectal cancer.&nbsp; The two variants included in

Health + Traits — Page 9