An investigation into a missense variant associated with cataracts in Puerto Ricans.
A prospective analysis of disease incidence and progression with genetic, clinical, and lifestyle risk factors.
Those are just two of the seven posters that the <a href="https://www.23andme.com/research/">23andMe research team</a> will present at this year’s <a href="https://www.ashg.org/meetings/2022-annual-meeting/">American Society of Human Genetics (ASHG) meeting</a>.
The meeting, which will be held in Los Angeles October 25-29, provides a forum for the discussion of cutting-edge science in all areas of human genetics.
Highlights of this year’s agenda include symposia, booths, scientific sessions, and workshops, as well as a <a href="https://www.ashg.org/wp-content/uploads/2022/04/ASHG2022-presidential-symposium-speakers-and-description.pdf">Presidential Symposium</a> on recent developments in African genomics.
<h6>23andMe at ASHG</h6>
Below you’ll find a full list of our presentations and posters at ASHG.&nbsp;
In addition to our research contributions, we’ll also have a booth (#1248) where conference attendees can learn more about several of our initiatives – including our<a href="https://research.23andme.com/postdocs/"> Postdoc Program</a> and our<a href="https://research.23andme.com/research-innovation-collaborations/"> Research Innovation Collaboration Program</a>. We hope to see you there!
<h6>Wednesday, Oct. 26 from 3:00 &#8211; 4:45 P.M. PT</h6>


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<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="512" height="512" src="http://35.88.189.111/wp-content/uploads/2022/10/Jing-Shi.png" alt="" class="wp-image-30594" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Jing-Shi.png 512w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Jing-Shi-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Jing-Shi-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Jing-Shi-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Jing-Shi-372x372.png 372w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
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“A Rare Missense Variant of Large Effect is Associated with Cataract in Puerto Ricans”



Jing Shi, PhD, Scientist II, Statistical Genetics



Poster # PB3281
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<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="384" height="384" src="http://35.88.189.111/wp-content/uploads/2022/10/Priyanka-Nandakumar-e1666109603948.png" alt="" class="wp-image-30593" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Priyanka-Nandakumar-e1666109603948.png 384w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Priyanka-Nandakumar-e1666109603948-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Priyanka-Nandakumar-e1666109603948-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Priyanka-Nandakumar-e1666109603948-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Priyanka-Nandakumar-e1666109603948-372x372.png 372w" sizes="auto, (max-width: 384px) 100vw, 384px" /></figure>
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“Comparison of trans-ancestry meta- and mega-analyses of cis-eQTLs in whole blood and LCLs”



Priyanka Nandakumar, PhD, Scientist II, Statistical Genetics



Poster # PB3345
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<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="1020" src="http://35.88.189.111/wp-content/uploads/2022/10/Wei-Wang-e1666111334580-1024x1020.jpg" alt="" class="wp-image-30592" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Wei-Wang-e1666111334580-1024x1020.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Wei-Wang-e1666111334580-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Wei-Wang-e1666111334580-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Wei-Wang-e1666111334580-768x765.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Wei-Wang-e1666111334580-880x877.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Wei-Wang-e1666111334580-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Wei-Wang-e1666111334580-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Wei-Wang-e1666111334580.jpg 1064w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
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“Prospective analysis of disease incidence and progression with genetic, clinical and lifestyle risk factors”



Wei Wang, PhD, Scientist II, Statistical Genetics



Poster # PB3563
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</div>



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<h6 class="wp-block-heading">Thursday, Oct. 27 from 3:00 &#8211; 4:45 P.M. PT</h6>
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</div>



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<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1016" height="1024" src="http://35.88.189.111/wp-content/uploads/2022/10/katelynn-e1666109571153-1016x1024.jpg" alt="" class="wp-image-30595" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/katelynn-e1666109571153-1016x1024.jpg 1016w, https://blogcms.23andme.com/wp-content/uploads/2022/10/katelynn-e1666109571153-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2022/10/katelynn-e1666109571153-298x300.jpg 298w, https://blogcms.23andme.com/wp-content/uploads/2022/10/katelynn-e1666109571153-768x774.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/katelynn-e1666109571153-873x880.jpg 873w, https://blogcms.23andme.com/wp-content/uploads/2022/10/katelynn-e1666109571153.jpg 1060w" sizes="auto, (max-width: 1016px) 100vw, 1016px" /></figure>
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“Advancing rare disease research through web-based recruitment: the 23andMe Systemic Sclerosis Research Study”



Katelyn Kukar, Associate Program Manager



Poster # PB1256
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<figure class="wp-block-image size-full"><img loading="lazy" decoding="async" width="512" height="512" src="http://35.88.189.111/wp-content/uploads/2022/10/Kipper-Fletez-Brant.png" alt="" class="wp-image-30591" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Kipper-Fletez-Brant.png 512w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Kipper-Fletez-Brant-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Kipper-Fletez-Brant-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Kipper-Fletez-Brant-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Kipper-Fletez-Brant-372x372.png 372w" sizes="auto, (max-width: 512px) 100vw, 512px" /></figure>
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“The genetic architectures of gene expression in individuals of African and European ancestry: results and consequences of eQTL studies”



Kipper Fletez-Brant, PhD, Scientist II, Computational Biology



Poster # PB2700
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<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1022" height="1024" src="http://35.88.189.111/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846-1022x1024.jpg" alt="" class="wp-image-30590" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846-1022x1024.jpg 1022w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846-768x769.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846-878x880.jpg 878w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Zachary-Fuller-e1666111361846.jpg 1058w" sizes="auto, (max-width: 1022px) 100vw, 1022px" /></figure>
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“Burden testing of imputed rare variants to inform therapeutic hypotheses”



Zachary Fuller, PhD, Scientist I, Statistical Genetics



Poster # PB3330
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</div>



<div class="wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex">
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<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="1024" src="http://35.88.189.111/wp-content/uploads/2022/10/Chris-German-e1666111393253-1024x1024.png" alt="" class="wp-image-30589" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-1024x1024.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-768x768.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-880x880.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-1180x1180.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253-980x980.png 980w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Chris-German-e1666111393253.png 1512w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>
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<div class="wp-block-column is-layout-flow wp-block-column-is-layout-flow" style="flex-basis:66.66%">
&#8220;GWAS of pericarditis derived from a natural language processing model on self-reported free text data identifies a genome-wide significant association on chromosome 2q14.1”



Chris German, PhD, Scientist I, Statistical Genetics



Poster # PB3426
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</div>

23andMe Blog

23andMe Blog Team

23andMe Research at ASHG Meeting

We know Halloween is scary good, and that’s not because of pumpkin spice.



So, what gives?



There are the costumes, the candy, and the usually risk-free thrill of something scary, or the chance to scare the heck out of somebody else. But why do we like it so much?



As fans of this time of year, a few of our scientists dove into the data to take a closer look. They wanted to know just how much people say they fear creepy crawly spiders or love horror films, or whether they prefer the sweet taste of, say a Snickers bar, over the tang of a Sour Patch Kids candy.&nbsp;



We looked at the data to see what it says about fear, taste, and attraction to the thrill of something scary. Here’s what we found.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="569" src="http://35.88.189.111/wp-content/uploads/2022/10/Screen-Shot-2022-10-17-at-3.35.46-PM-1024x569.png" alt="" class="wp-image-30608" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Screen-Shot-2022-10-17-at-3.35.46-PM-1024x569.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Screen-Shot-2022-10-17-at-3.35.46-PM-300x167.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Screen-Shot-2022-10-17-at-3.35.46-PM-768x427.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Screen-Shot-2022-10-17-at-3.35.46-PM-880x489.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Screen-Shot-2022-10-17-at-3.35.46-PM-1180x656.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Screen-Shot-2022-10-17-at-3.35.46-PM.png 1562w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



<h6 class="wp-block-heading" id="h-fear-and-loathing">Fear and loathing</h6>



At 23andMe we ask all sorts of questions about everything from whether you can curl your tongue or do a cartwheel. This is because it adds to our understanding of human traits, behavior, and in some cases human health.&nbsp;



While this was a fun exercise, it also did reveal some interesting associations between certain fears and mental health-related conditions. So we saw that those who reported a fear of spiders also were much more likely to have a fear of heights, as well as a likelihood to have anxiety and depression.&nbsp;&nbsp;



If you do have a bit of arachnophobia, you’re not alone. A lot of people are afraid of spiders, about 22 percent of the population say they have that fear, according to <a href="https://www.chapman.edu/wilkinson/research-centers/babbie-center/_files/Babbie%20center%20fear2021/blogpost-americas-top-fears-2020_-21-final.pdf">Chapman University Survey of American Fears</a>. 23andMe’s data shows a higher percentage of people say they are afraid of spiders, about 38 percent, but the surveys are done differently. The annual Chapman survey includes questions about a large number of fears. A fear of spiders ranks among fears just behind a fear of snakes, but ahead of murder hornets.&nbsp;



Since that, all sounds like the plot line for a scary movie, that brings us to, well, scary movies. Despite our fears, some of us are actually attracted to horror films. From a scientific point of view, we see that this may be another form of thrill-seeking or risk-taking, which may in turn also reflect on behavior.&nbsp;



<h6 class="wp-block-heading" id="h-age-matters">Age matters</h6>



A lot changes as we get older, and it’s not just attitudes, hair lines and wrinkles. As we age, it appears that the years lessen certain fears, and change our perceptions and tastes in everything from the food we eat to the films we watch. These trends are very distinct in the data.



As we age, some of our fears — at least in the case of spiders — fade. Perhaps we focus on bigger things or just put things into perspective.&nbsp;



And maybe as we age what also fades appears to be any thrill from seeing a scary movie. In truth, most 23andMe customers who consented to participate in research — more than half surveyed — actually say they don’t like horror movies, but age matters.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="633" src="http://35.88.189.111/wp-content/uploads/2022/10/Halloween-Related-Preferences-by-Age-1024x633.png" alt="A bar chart showing how fear of spiders, preference for sweet or sour candy and horror movies changes as we age." class="wp-image-30400" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Halloween-Related-Preferences-by-Age-1024x633.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Halloween-Related-Preferences-by-Age-300x186.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Halloween-Related-Preferences-by-Age-768x475.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Halloween-Related-Preferences-by-Age-880x544.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Halloween-Related-Preferences-by-Age-1180x730.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Halloween-Related-Preferences-by-Age.png 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



More than half of people under 30, about 60 percent, say they like scary films. So, expect more reboots of movies like Scream, Halloween, and, yikes, Saw. As a side note, in looking at those who said they liked the “Horror” genre we saw an association with depression, smoking, and a lack of religiosity.&nbsp;



Breaking down the data by age we see that with every decade the taste for a devilishly scary movie diminishes. By the age of 60 more than three-quarters of people say they dislike horror films.



One surprise, although maybe it shouldn’t be, is that it’s not just our film tastes that change with age. So too do our candy preferences. The older you get, according to our data, the more likely you prefer sweet candy over sour. This might actually reflect changes in our taste buds as we age.&nbsp;



Both our genetics and our environment shape our taste preferences, whether we like <a href="https://www.23andme.com/topics/traits/sweet-salty/">salty or sweet snacks</a>, for instance, or our <a href="https://www.23andme.com/topics/traits/bitter-taste/">bitter taste perception</a>. But our taste perceptions also change <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618294/">as we age</a>.&nbsp;



There are multiple factors for this including physiological ones that can dull taste receptor cells. Some studies indicate an age-related decline in sweet and salty taste perception, but with contradictory results. Our data indicate that as people age they report liking sweet candy more than sour ones.&nbsp;



<h6 class="wp-block-heading" id="h-genetic-sex-matters">Genetic sex matters</h6>



We also saw differences in responses between males vs females, defined here solely by chromosomal sex, not necessarily sex assigned at birth or gender identity.



More men than women said they liked horror films, but they were not popular with either men or women. About 37 percent of men said they like horror films, and about 32 percent of women felt that way but a majority of both men and women said they disliked scary movies.&nbsp;



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="633" src="http://35.88.189.111/wp-content/uploads/2022/10/Genetic-Sex-Halloween-Preferences-1024x633.png" alt="This bar chart looks at differences in preferences based on genetic sex" class="wp-image-30402" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Genetic-Sex-Halloween-Preferences-1024x633.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Genetic-Sex-Halloween-Preferences-300x185.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Genetic-Sex-Halloween-Preferences-768x474.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Genetic-Sex-Halloween-Preferences-880x544.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Genetic-Sex-Halloween-Preferences.png 1104w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



As for a fear of spiders, we also saw a difference but a majority of both men and women said they weren’t afraid of spiders. Only about 22 percent of men said they were afraid of spiders and about 45 percent of women said they were afraid of them.



<h6 class="wp-block-heading" id="h-the-horror">The horror</h6>



Mapping some of this data into a sort of Venn diagram of fears we see that there are a chosen few — about 20 percent of those surveyed — who describe themselves as brave, not afraid of spiders, and fans of horror films.



<figure class="wp-block-image size-large"><img loading="lazy" decoding="async" width="1024" height="697" src="http://35.88.189.111/wp-content/uploads/2022/10/Not-Brave-v-Fearful-e1665524256291-1024x697.png" alt="Ven Diagram looking at overlap between fears and preferences." class="wp-image-30403" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Not-Brave-v-Fearful-e1665524256291-1024x697.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Not-Brave-v-Fearful-e1665524256291-300x204.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Not-Brave-v-Fearful-e1665524256291-768x523.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Not-Brave-v-Fearful-e1665524256291-880x599.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Not-Brave-v-Fearful-e1665524256291-1180x803.png 1180w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Not-Brave-v-Fearful-e1665524256291.png 1466w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



Perhaps Halloween is ideally made for them, but even those of us who are fearful, don’t like scary movies, and are afraid of spiders can at least look forward to candy.&nbsp;



We plan to continue to collect these data over time. We also hope to look at how genetics might play a role, not just in how we experience Halloween but what these traits might say about mental health conditions and how they might change with age.

Trick or Treat, Scary or Sweet

Bolstered by the early success of recruitment for our<a href="https://www.23andme.com/rare-disease-research-study/"> Rare Disease Research Study</a>, 23andMe has expanded its scope from four to now include twelve rare conditions.
Finding and then enrolling participants in the study of rare diseases has always been a challenge for scientists. Diseases are considered rare if they affect fewer than 200,000 people in the U.S., and with those numbers spread out across the country finding and then getting participants for research is difficult. Even when the studies move forward, they often include very few people, which hampers the ability to make meaningful insights.
<h6>23andMe research model and rare disease</h6>
About a year ago 23andMe published a paper illustrating how our research model is uniquely positioned for this kind of research. The paper outlined what at the time was believed to be the<a href="https://blog.23andme.com/23andme-research/new-way-to-study-rare-disease/"> largest genetic study of rare diseases ever done</a>. Using insights from that paper, 23andMe launched its Rare Diseases Research Study. 
The handful of conditions we began with included:
<ul>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/systemic-sclerosis/">Systemic sclerosis</a>, which causes the hardening of the body’s connective tissue. (This study was first begun in 2021.)</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/anca-associated-vasculitis/">ANCA-associated vasculitis</a>, a group of autoimmune diseases that are characterized by inflammation of small vessels. </li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/pemphigus-vulgaris/">Pemphigus vulgaris</a>, an autoimmune disorder that involves blistering and erosion of the skin as well as the mucous membranes.</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/dermatomyositis/">Dermatomyositis</a>, an inflammatory disease marked by muscle weakness and a distinctive skin rash.</li>
</ul>
Before launching the Rare Disease Research Study, some of 23andMe’s rare disease cohorts had fewer than 150 individuals who had consented to participate in research. Since launching the study, we’ve added almost 200 consented research participants to help fuel this research. 
<h6>New Conditions</h6>
With this positive trend, 23andMe added eight more diseases to this study including;
<ul>
<li style="list-style-type: none;">
<ul>
<li style="font-weight: 400;" aria-level="1"> <a href="https://www.23andme.com/rare-disease-research-study/pulmonary-arterial-hypertension/">Pulmonary arterial hypertension</a>, a rare and progressive form of pulmonary hypertension (PH) that is caused by an obstruction in the small arteries in the lung. </li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/primary-sclerosing-cholangitis/">Primary sclerosing cholangitis</a>, a chronic disease in which the bile ducts inside and outside the liver become inflamed and scarred, and eventually narrowed or blocked.</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/pulmonary-fibrosis/">Pulmonary fibrosis</a> is a lung disease that occurs when lung tissue becomes damaged and scarred.</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/myasthenia-gravis/">Myasthenia gravis</a>, a chronic autoimmune disorder in which antibodies destroy the communication between nerves and muscle, resulting in weakness of the skeletal muscles.  </li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/myelodysplastic-syndrome/">Myelodysplastic syndrome</a>, a group of disorders caused by blood cells that are poorly formed or don&#8217;t work properly.  </li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/lymphangioleiomyomatosis/">Lymphangioleiomyomatosis</a>, a lung disease caused by the abnormal growth of smooth muscle cells, especially in the lungs and lymphatic system.</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/giant-cell-arteritis/">Giant cell arteritis,</a> a part of a group of disorders that cause inflammation within blood vessels, most commonly in the head.</li>
<li style="font-weight: 400;" aria-level="1"><a href="https://www.23andme.com/rare-disease-research-study/essential-thrombocythemia/">Essential thrombocythemia</a>, a condition where too many platelets are produced in a person’s bone marrow. Symptoms develop over time but they can lead to difficulty breathing, weakness, fatigue, clotting, strokes, and an enlarged spleen, among other things.</li>
</ul>
</li>
</ul>
The goal is to recruit 1,000 participants for each of these conditions which can help us have stronger statistical power for research. This can drive meaningful insights that could ultimately lead to the development of better treatments. We hope to expand this study further by adding new rare conditions in the future.
To learn more go<a href="https://www.23andme.com/rare-disease-research-study/"> here</a>.

23andMe Adds More Conditions to Rare Disease Research Study

In the latest update to 23andMe’s Ancestry Reports and features, we’ve added finer detail for customers with Ashkenazi Jewish ancestry, allowing them to trace their family connections back to seven genetic groups corresponding to regions within Eastern and Central Europe.
Some of these regions overlap, but they map to areas with deep historical and cultural significance for people of Ashkenazi ancestry. The long history of pogroms, persecution, and the devastating horror of the Holocaust annihilated the connections of many of those with Ashkenazi ancestry to their families’ historical origins. DNA testing has the potential to offer hints to those connections where family history may be lacking.
That is partly the purpose of this update, to offer customers with Ashkenazi ancestry a deeper connection to those historical regions and cultural connections.
<img loading="lazy" decoding="async" class="aligncenter wp-image-30348 size-large" src="http://35.88.189.111/wp-content/uploads/2022/10/AK-Content-Image-490x1024.png" alt="" width="490" height="1024" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/AK-Content-Image-490x1024.png 490w, https://blogcms.23andme.com/wp-content/uploads/2022/10/AK-Content-Image-143x300.png 143w, https://blogcms.23andme.com/wp-content/uploads/2022/10/AK-Content-Image-768x1606.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/AK-Content-Image-421x880.png 421w, https://blogcms.23andme.com/wp-content/uploads/2022/10/AK-Content-Image-564x1180.png 564w, https://blogcms.23andme.com/wp-content/uploads/2022/10/AK-Content-Image.png 815w" sizes="auto, (max-width: 490px) 100vw, 490px" />
<h2>What is Ashkenazi Jewish ancestry?</h2>
People with Ashkenazi ancestry are connected to Jews who settled in Central and Eastern Europe during the Middle Ages. The word “Ashkenazi” is thought to come from the name Ashkenazi, a descendant of Noah in the Hebrew bible.
During their long history in Europe, Ashkenazi Jews faced persecution and cultural isolation that, in turn, impacted their genetics.  Starting in the 11th century, Jews living in Europe began to experience intense persecution, which eventually led to their expulsion from many countries. This, along with the plague that hit Europe in the 14th and 15th centuries, decimated the Jewish population, which plummeted by close to 90 percent.
Those forces that isolated the population and drastically reduced its size created what genetics called a “population bottleneck.” Bottlenecks can be caused by geographic barriers, disease, migration, or persecution isolating a population over generations. That is what happened among Ashkenazi Jewish communities of Central and Eastern Europe.
Scientists think that, because of this bottleneck, the 10 million Ashkenazi Jews who are alive today have descended from just a few hundred founding individuals.  Interestingly, their modern descendants remain genetically more similar to other Jewish populations than their European neighbors. In the twentieth century, amidst two World Wars and the Holocaust, and after the war years, many Ashkenazi Jews immigrated to what is now Israel or to the Americas in search of greater cultural and religious acceptance. Today, over five million ethnic Ashkenazi Jews live in the U.S.
<img loading="lazy" decoding="async" class="aligncenter wp-image-30365 size-large" src="http://35.88.189.111/wp-content/uploads/2022/10/Western-Europe-AK-image-1024x841.png" alt="" width="1024" height="841" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/Western-Europe-AK-image-1024x841.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Western-Europe-AK-image-300x246.png 300w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Western-Europe-AK-image-768x631.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Western-Europe-AK-image-880x723.png 880w, https://blogcms.23andme.com/wp-content/uploads/2022/10/Western-Europe-AK-image-1180x969.png 1180w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
<h2>Ancestry composition update</h2>
23andMe’s Ancestry Composition report is a living analysis that improves as we add new reference data. Underlying our Ancestry reports are powerful algorithms and analytical tools developed by 23andMe population geneticists and engineers to offer our customers more insights into their ancestral origins. Over the last few years, we’ve updated results for people with <a href="https://blog.23andme.com/ancestry-reports/african-ethnolinguistic-groups/">African Ancestry</a>, <a href="https://blog.23andme.com/ancestry-reports/ancestry-composition-update-china/">Chinese ancestry,</a> <a href="https://blog.23andme.com/ancestry-reports/indigenous-genetic-ancestry/">Indigenous American ancestry</a>, and <a href="https://blog.23andme.com/ancestry-reports/caribbean-latin-american/">Latinx ancestry</a>, for instance.
In this update, the new methodology and algorithms use data from groups of people of Ashkenazi ancestry with four grandparents from specific regions in Central and Eastern Europe. We can connect customers with Ashkenazi ancestry to those regional genetic groups through their shared DNA.
<h2>Ashkenazi Jewish genetic groups</h2>
Almost all of our customers on the <a href="https://customercare.23andme.com/hc/en-us/articles/218392668-Upgrading-to-23andMe-s-Newest-Chip-Version">latest genotyping chip</a>, V5, who have more than 90 percent Ashkenazi ancestry, will receive at least one match to one of those genetic groups. This means they share high genetic similarity with people in that genetic group. About 80 percent of our customers on the latest chip with more than 75 percent Ashkenazi ancestry will receive a match. About 900,000 customers with Ashkenazi ancestry will receive a match to one of these regional genetic groups. While customers may receive a likely or highly likely match to one of these genetic groups, this update does not provide a more detailed breakdown of customers’ Ashkenazi Jewish ancestry percentage.  
While some regions overlap, we’ve distinguished each geographically and descriptively. The names of these clusters also attempt to indicate the geographic areas.
The clusters include:
<ul>
<li> Belarusian Jews — this region aligns with Belarus.</li>
<li> Lithuanian Jews — this region includes Lithuania, Latvia, and Belarus.</li>
<li> Western European Jews —this region includes southwestern Germany, as well as the Netherlands near the Rhine River.</li>
<li> Southeastern Polish Jews — this region overlaps with southeastern Poland.</li>
<li> Eastern Polish and Western Ukrainian Jews — this region includes eastern Poland and western Ukraine.</li>
<li> West Central Ukrainian Jews, — this region includes west-central Ukraine.</li>
<li> Central European and Western Ukrainian Jews — this region includes western Ukraine, Hungary, Romania, and Slovakia.</li>
</ul>
<img loading="lazy" decoding="async" class="aligncenter wp-image-30364 size-largest" src="http://35.88.189.111/wp-content/uploads/2022/10/So.-Lithuanian-Image-566x1180.png" alt="" width="566" height="1180" srcset="https://blogcms.23andme.com/wp-content/uploads/2022/10/So.-Lithuanian-Image-566x1180.png 566w, https://blogcms.23andme.com/wp-content/uploads/2022/10/So.-Lithuanian-Image-144x300.png 144w, https://blogcms.23andme.com/wp-content/uploads/2022/10/So.-Lithuanian-Image-768x1601.png 768w, https://blogcms.23andme.com/wp-content/uploads/2022/10/So.-Lithuanian-Image-491x1024.png 491w, https://blogcms.23andme.com/wp-content/uploads/2022/10/So.-Lithuanian-Image-422x880.png 422w, https://blogcms.23andme.com/wp-content/uploads/2022/10/So.-Lithuanian-Image.png 990w" sizes="auto, (max-width: 566px) 100vw, 566px" />
<h2>Your ancestry matters for your health</h2>
While this update provides essential connections for customers with Ashkenazi ancestry, it also offers the opportunity to remind people that their ancestry matters for their health, too.
In the case of people with Ashkenazi ancestry, their unique history, which led to their isolation, also had genetic implications. People with Ashkenazi ancestry are more likely to carry genetic variants that cause certain single-gene recessive Mendelian conditions such as<a href="https://www.23andme.com/topics/carrier/gaucher-disease-type-1/"> Gaucher disease</a>,<a href="https://www.23andme.com/topics/carrier/canavan-disease/"> Canavan disease</a>, and<a href="https://www.23andme.com/topics/carrier/tay-sachs-disease"> Tay-Sachs disease</a>. In addition, people with Ashkenazi ancestry are more likely to carry the so-called “founder variants” in the<a href="https://www.23andme.com/brca/"> BRCA1 and BRCA2 t</a>hat increase the risk of breast, ovarian, and prostate cancer. 
<h2>Find out more</h2>
With more than 2,000 geographic regions, mitochondrial and Y-chromosome haplogroups, <a href="https://you.23andme.com/reports/ancestry_composition_hd/?assessment_id=ancestry_composition_hd.achd_admixture_dating">Ancestry Timeline</a>, <a href="https://you.23andme.com/tools/relatives/dna/">advanced DNA comparison</a>, <a href="https://you.23andme.com/family/relatives/">DNA Relatives</a>, and a <a href="https://you.23andme.com/family/tree/">genetic Family Tree</a>, 23andMe offers more specificity, more interactivity, and more to explore. 23andMe’s Ancestry Composition improves over time as 23andMe adds new populations and regions, offering customers a chance to see more granularity in their results.
23andMe customers can go to their <a href="https://you.23andme.com/ancestry/">Ancestry Overview</a> to start exploring. 
Not yet a customer? Find out more about 23andMe’s ancestry offerings <a href="https://www.23andme.com/dna-ancestry/">here</a>.

23andMe Adds Detail for People of Ashkenazi Ancestry

This week, we released a new 23andMe+ Premium report on asthma powered by 23andMe research.
Asthma is a chronic lung condition that occurs when the immune system overreacts to an environmental trigger, causing inflammation, increased mucus production inside the airways, and tightened muscles around the airways. 
While it’s more common for asthma to be diagnosed during childhood, it can develop at any time.
<h6>Understanding Asthma </h6>
It is estimated that around<a href="https://www.cdc.gov/asthma/nhis/2019/table2-1.htm"> 12 percent of people</a> in the U.S. have asthma. Besides genetics, other non-genetic factors like ethnicity, long-term irritant exposure, and age can increase a person&#8217;s chances of developing the condition.
In 2020, an<a href="https://blog.23andme.com/23andme-research/researchers-identify-new-genetic-associations-for-allergies-asthma-and-eczema/"> international team of scientists</a> uncovered new genetic associations for several allergic conditions – specifically allergies, asthma, and eczema – by studying the age of onset.
The researchers used data from the UK Biobank to identify 76 genetic variants associated with these allergic conditions in or near 18 different genes. They found that about 50 of these variants were associated with a higher risk of both developing allergic conditions in the first place and developing them at an early age.
<img loading="lazy" decoding="async" class="alignright wp-image-30335 size-full" src="http://35.88.189.111/wp-content/uploads/2022/10/asthma-story-1.4435b09a0863.svg" alt="" width="306" height="403" srcset="https://blogcms.23andme.com/wp-content/uploads/asthma-story-1.4435b09a0863.svg 150w, https://blogcms.23andme.com/wp-content/uploads/asthma-story-1.4435b09a0863.svg 300w, https://blogcms.23andme.com/wp-content/uploads/asthma-story-1.4435b09a0863.svg 768w, https://blogcms.23andme.com/wp-content/uploads/asthma-story-1.4435b09a0863.svg 1024w, https://blogcms.23andme.com/wp-content/uploads/asthma-story-1.4435b09a0863.svg 306w" sizes="auto, (max-width: 306px) 100vw, 306px" />
<h6>A New Report</h6>
Our new Asthma report is powered by data from people who have consented to participate in 23andMe research. It uses machine learning techniques to estimate an individual’s likelihood of developing asthma.
This estimate is made using a statistical model that includes 24,244 genetic markers and information on an individual’s ethnicity and birth sex. See our<a href="https://permalinks.23andme.com/pdf/23_21-PRSMethodology_May2020.pdf"> white paper</a> to learn more about the science behind the report.
<h6>Asthma Attacks</h6>
People with asthma may experience shortness of breath, tightness in the chest, coughing, or wheezing. Each of these symptoms can range in severity.
Symptoms often come and go, and specific triggers can cause them to worsen or flare up suddenly in episodes called asthma attacks. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-30336" src="http://35.88.189.111/wp-content/uploads/2022/10/asthma-story-2.3188cc48c4e0.svg" alt="" width="221" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/asthma-story-2.3188cc48c4e0.svg 150w, https://blogcms.23andme.com/wp-content/uploads/asthma-story-2.3188cc48c4e0.svg 300w, https://blogcms.23andme.com/wp-content/uploads/asthma-story-2.3188cc48c4e0.svg 768w, https://blogcms.23andme.com/wp-content/uploads/asthma-story-2.3188cc48c4e0.svg 1024w, https://blogcms.23andme.com/wp-content/uploads/asthma-story-2.3188cc48c4e0.svg 306w" sizes="auto, (max-width: 221px) 100vw, 221px" />
<h6>Common Triggers</h6>
Asthma triggers vary from person to person. However, some of the most common triggers include allergies, air pollution, tobacco smoke, respiratory infections, and cold air
<h6>Managing Asthma</h6>
Simple strategies like identifying and avoiding triggers and recognizing the warning signs of an impending asthma attack can help reduce the severity and frequency of symptoms. 
Staying up to date on vaccines and avoiding smoking and second-hand smoke can also be helpful.
People with asthma triggered by allergies can minimize allergen exposure by using HEPA air filters and vacuum cleaners. And people who are allergic to dust mites can use impermeable pillow and mattress covers to reduce exposure. 
In addition, medications like quick-relief inhalers, and long-term asthma control medications can help manage symptoms.
<h6>Learn More</h6>
23andMe’s new Asthma report (powered by 23andMe Research) is available to 23andMe+ Premium members. To view your report, go<a href="https://you.23andme.com/reports/prs.asthma/"> here</a>.
Not a customer? Find out more<a href="https://www.23andme.com/membership/"> here</a>.
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New 23andMe+ Premium Report on Asthma

A massive new study, the largest genome-wide association study ever done, has 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.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2008/04/tallshadow-225x300.jpg" alt="" width="225" height="300" class="alignright size-medium wp-image-180" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/04/tallshadow-225x300.jpg 225w, https://blogcms.23andme.com/wp-content/uploads/2008/04/tallshadow.jpg 300w" sizes="auto, (max-width: 225px) 100vw, 225px" />
Using data from about 5.4 million individuals, almost half of whom were 23andMe customers who consented to participate in research, the study identified 12,111 variants or single nucleotide polymorphisms (SNPs) that help explain differences in height.
“We feel that this is really a milestone,” said&nbsp;<a href="https://www.broadinstitute.org/node/7053">Joel Hirschhorn</a>, senior author on the study, an institute member at the Broad, and also a professor of genetics and Concordia Professor of Pediatrics at Boston Children’s Hospital and Harvard Medical School. “We’d been studying height for a while but had only identified a small fraction of common variant heritability. We’re now basically done mapping this heritability to specific genomic regions, and that highlights what increasing sample size can tell us about traits controlled by multiple genes.”
<h6>GIANT</h6>
Published in the journal <a href="https://www.nature.com/articles/s41586-022-05275-y">Nature</a>, the study, led by researchers at the <a href="https://www.broadinstitute.org/news/largest-genome-wide-association-study-ever-uncovers-nearly-all-genetic-variants-linked-height">Broad Institute</a> and the international <a href="https://portals.broadinstitute.org/collaboration/giant/index.php/GIANT_consortium">Genetic Investigation of ANthropometric Traits (GIANT) Consortium</a>, is the culmination of a multi-year effort to foster collaboration between academic, non-profit, government, and commercial partners. In their effort, the researchers collected, merged, and analyzed numerous independently generated genome-wide association studies into a single data set. In all, there are more than 200 different datasets incorporated into this study, which included contributions from hundreds of scientists from around the world.
<h6>The Power of Scale</h6>
What they found is important not just because of what it says about height, syndromes, and abnormalities affecting stature, but what it says about the potential of using very, very large amounts of data to generate insights into the genetics of different traits and conditions. Because height is so heritable, and because it is easy to measure someone’s height, it offers a very straightforward way to conduct a genetic study into a trait.
&#8220;This study highlights the ability of large-scale genetic studies to reveal the underlying biology of human phenotypes,” said Adam Auton, 23andMe’s Vice President of Human Genetics. 23andMe was one of a long list of institutions and organizations involved in the study.
“With this 5.4 million person study, we&#8217;re now at the stage where we&#8217;re starting to saturate our genetic understanding of height,” Auton said. “However, for other phenotypes — particularly human diseases — we&#8217;re a long way from saturation, and there is a lot we don&#8217;t yet understand.&#8221;
<h6>Heritability of Height</h6>
Heritability is the measure of how much our DNA explains the differences in specific traits or conditions. A SNP is a one-letter variation in the genetic code at a single point along the genome. These common variants are associated with differences in everything from traits like the color of our eyes or our height, or our risk for certain diseases.
Along with genetics, one’s environment — diet, for instance — also plays a role in these different traits and conditions. In the case of height, genetics has an outsized role in explaining about 80 percent of the variation. Because researchers included more than twice the number of individuals in this study from the next largest height study, they were able to discern almost all the heritability for height. So, size matters in genetic studies.
Previous height studies were large but just not large enough. According to the authors, this study was big enough to discern almost all of the heritability for height. In finding most of the variants that explain the heritability for height, the authors estimate that they’ve now identified variants that account for 40 percent of all variation in height in people with European ancestry. But they’ve identified only around 10–20 percent of the variation in people of other ancestries.
<h6>Diversity Matters</h6>
Also significant is that the study found that the genetic variants associated with height clustered within or near genes or gene regions associated with growth and development. That makes sense, but scientists were not so sure that is what they’d find. Many scientists thought that perhaps the variants they’ve identified could be found randomly sprinkled throughout the genome. But seeing that there is clustering will allow researchers to focus more on the clues around the biology and processes involved in individual traits like height.
In addition, the study illustrates something we already know about genetic research: diversity matters.&nbsp;
Although there were large numbers of individuals – more than a million – with African, Asian, and Latino ancestry included in this study, the vast majority of the data came from people of European ancestry. Some of the variants associated with height were associated with individuals of all different ancestries, but the findings were most applicable to those of European ancestry.&nbsp;
The researchers concluded that their study would benefit from data from a more diverse pool of individuals, especially those of African ancestry since people of African ancestry have the most genetic diversity of all populations. Not only would it improve the predictive power of the models developed to predict height for non-Europeans,&nbsp; it would also help in identifying causal genes and rare variants involved in height.
Read the full paper <a href="https://www.nature.com/articles/s41586-022-05275-y">here</a>.
&nbsp;

Giant Study Offers Insights into the Genetics of Height

We’re all smiling a bit more at 23andMe this week on news from Comparably that 23andMe was singled out on lists not just as having the happiest employees, but also as one of the companies rated by employees as having the best compensation, perks &amp; benefits as well as the best work-life balance.
The workplace review site <a href="https://www.comparably.com/">Comparably</a> compiled the lists based on anonymous employee reviews over the last year. The lists are based on sentiment ratings provided by current employees.
One of those anonymous reviews summed up a common refrain from employees about work at 23andMe:
&#8220;New challenges, plenty of opportunities to understand and implement solutions, and a vast amount of talent to learn from each other.&#8221;&nbsp;
23andMe ranked 7th on the list of the<a href="https://www.comparably.com/news/happiest-employees-2022/"> “Happiest Employees,”</a> drawing on data from employees’ attitudes on such things as compensation, company goals, and excitement about the work they do.
“Our data shows that the happiest employees are often those who feel valued by their employers through a variety of factors like competitive compensation, clear goals, work-life balance, and a general excitement working for their organizations,” said Comparably co-founder/CEO Jason Nazar.
Indeed, employees’ sentiment about compensation, work-life balance as well as perks &amp; benefits, clearly played a role in their overall contentment. 23andMe was also included on lists for the “<a href="https://www.comparably.com/news/best-compensation-2022/">Best Company Compensation,”</a> “<a href="https://www.comparably.com/news/best-work-life-balance-2022/">Best Work-Life Balance,</a>” and “<a href="https://www.comparably.com/awards/winners/perks-benefits-2022-large?mkt_tok=MjM3LUxVWi00OTMAAAGHTL62hMlfLk6B9wIEGDz0vMjtjAWHAzbUnU7iamiLpKGQB43frSsqlBqy6Hi2PNSpuKD5exF90HY3h1G6vxmfJcCqBZPTI9IBzPISAkFSAPO-">Best Perks &amp; Benefits</a>.”
Each of those rankings was also based on anonymous employee reviews. Earlier this year 23andMe also landed on<a href="https://www.comparably.com/"> Comparably’s</a> 2022 list of<a href="https://www.comparably.com/awards/winners/best-company-bay-area-2022"> Best Places to Work in the San Francisco Bay Area</a>.
Want to learn more about working at 23andMe? Find out more <a href="https://www.23andme.com/careers/">here</a>.

Happy Together at 23andMe

Just two days after starting a course of citalopram, a common antidepressant, Donna Gizzi began to experience a slew of awful side effects. She felt so dizzy and disoriented that she had difficulty driving her car, recalling a frightening moment when she felt as though she was sitting still “while all the surrounding cars were going 100 miles per hour.”
She had been prepared for the mild nausea and drowsiness that often accompanies antidepressant treatment, but she was taken aback by the severity of the side effects she experienced. 
So Donna sought answers. She eventually got some from a <a href="https://www.23andme.com/test-info/pharmacogenetics/">23andMe Pharmacogenetics report</a>* – offered as part of a <a href="https://www.23andme.com/membership/">23andMe+ membership</a> – that looked at how her genes may impact how she processes different medications. 
<h6>The CYP2C19 Enzyme </h6>
The <a href="https://www.23andme.com/topics/pharmacogenetics/cyp2c19/">CYP2C19 enzyme</a> (pronounced sip-two-see-nineteen) helps the body metabolize certain medications. Specific DNA variants can affect how well the CYP2C19 enzyme works, and people with these variants may process certain medications slower or faster than normal. 
In Donna’s case, she had two copies of a variant associated with reduced function of the CYP2C19 enzyme, which made her a CYP2C19 poor metabolizer. This meant that she broke down certain drugs like citalopram more slowly and that these drugs stayed in her system longer, causing an increased chance of adverse effects.
<h6>Making Sense of the Past</h6>
After reading her report, everything clicked. 
<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">Editor’s Note:
We’ve talked to hundreds of people about what they did ‘after the click,’ after they opened up a report and learned about an unknown risk for breast cancer, lung and liver disease, or cardiac and neurological issues.
The response isn’t one of fear but empowerment.
Suddenly they and their doctor have information they can use to follow up on a risk in order to prevent or treat a serious illness. And this is too often for risks they wouldn’t have known of otherwise.
Here is another in an occasional series about customers who were empowered to take action after getting an important genetic insight from 23andMe.
Read some of the previous After the Click stories <a href="https://blog.23andme.com/23andme-customer-stories/after-the-click-paulo/">here</a>, <a href="https://blog.23andme.com/health-traits/after-the-click-brca/">here</a> and <a href="https://blog.23andme.com/health-traits/aatd-after-the-click/">here</a>.
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&#8220;All my adult life, I’ve had difficulty taking drugs,” Donna said. “I seem to react to everything I take. [Drugs] either do the opposite of what they’re supposed to do or don’t do anything at all. Once I learned I was a  predicted CYP2C19 poor metabolizer, I could put it all together.” 
Genetics seemed like a key part of the explanation, although other factors may also have played a role.
Donna shared her Pharmacogenetics report with her doctor, who immediately added it to her patient chart. “Now it&#8217;s in my chart that I’m a CYP2C19 poor metabolizer, so they’ll pay close attention to that in the future,” Donna explained. 
She’s also spreading the word to her family, friends, and anyone who will listen. “I just tell everybody I&#8217;m talking to about 23andMe. I think it&#8217;s important to find out if you have issues processing medications.”
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<h6>Note</h6>
*23andMe PGS Pharmacogenetic 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 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 and does not describe the association between detected variants and any specific therapeutic. Our CYP2C19 Pharmacogenetic 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.  
<h6>Warning: </h6>
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 www.23andme.com/test-info.

After the Click: Adverse Drug Reaction 

After your 23andMe reports come back, you might have questions about what to do next. When the question around a DNA result revolves around <a href="https://www.23andme.com/topics/health-predispositions/">genetics and your health</a>, that’s where a healthcare provider fits in. 
23andMe reports can provide you with powerful information about <a href="https://www.23andme.com/topics/health-predispositions/">health predispositions</a>*, <a href="https://www.23andme.com/topics/pharmacogenetics/">pharmacogenetics</a>**, <a href="https://www.23andme.com/topics/wellness/">wellness</a>, and more. Let’s talk about the path to taking your 23andMe report to a healthcare provider if one or more of your reports indicate you are at increased risk. 
<h6>Take the first step</h6>
You have your 23andMe report; now what? We have created many ways for you to learn, explore, and understand your reports on your own. Start with exploring the 23andMe <a href="https://www.23andme.com/topics/">Genetics Learning Hub</a>, visit our <a href="https://www.youtube.com/c/23andme">YouTube channel for learning videos</a>, follow the guided education provided by your report’s tutorial section, and search through information and answers to FAQs that our Customer Care team has compiled <a href="https://customercare.23andme.com/hc/en-us/articles/115006037188-Navigating-and-Understanding-Health-Predisposition-Reports">like this guidance on navigating and understanding a health predisposition report</a>. 
Each 23andMe report is unique and includes additional sources to guide you to answers. Some reports specifically lay out the next steps for you. Familiarize yourself with your 23andMe report and all it contains. That’s often the best place to start.
<h6>Schedule a visit with a healthcare provider</h6>
Next, use that guidance to schedule a visit to your healthcare provider, like a doctor, nurse practitioner, or genetic counselor.  
Genetics information fits into care and treatment differently, depending on the area of medicine. So when you decide to take a 23andMe report to a healthcare provider, make sure the report information you wish to talk about matches the area of expertise of your healthcare provider. 
Here’s one example: If you have genetic variants identified on your <a href="https://blog.23andme.com/health-traits/23andmes-new-mutyh-report/">MUTYH-Associated Polyposis</a> Genetic Health Risk report*, seeking out someone trained in colon cancer is more appropriate than a specialist who works in a different area of medicine.
<h6>Prepare for questions from your healthcare provider</h6>
Your visit is scheduled, and it’s time to prepare. Remember to print out or save to your mobile device any of your 23andMe reports that you have questions about and bring them to your appointment, or send them to the provider at the time you schedule. They will likely want to understand your desires and goals for the visit, and more information ahead of time helps everyone prepare. 
Genetic variants often run in families, meaning the sequence of DNA letters is passed from parent to child. Lifestyle and environment also are often shared factors for relatives who live and grow up together and can influence health risks. So you might also expect questions about your <a href="https://blog.23andme.com/news/family-health-history/">family’s health history</a> and your own health to come up during the visit. Healthcare providers with genetics training know to look at a DNA test result in the context of a family history. 
<a href="https://blog.23andme.com/health-traits/learn-your-health-history/">Try to check in</a> with your closest relatives*** for an update before you meet with a provider to learn updates about conditions like heart disease, cancer, and high blood pressure that might run in your family. Even rare and common conditions might provide clues about what a genetic result might mean for you. 
<h6>Get ready for additional screening and testing</h6>
Your healthcare provider may order additional testing during your visit. Your provider will use the skills and knowledge they have from their area of specialty alongside your result and the recommendations included on the report. Some providers will order confirmatory genetic testing of the variant or variants identified on your report, or order additional screens based on their usual approach to care with patients. 
Here are some examples: A nurse practitioner might suggest you start an annual mammogram if you do not have the three variants included in 23andMe&#8217;s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report* but you&#8217;re at an age where mammograms are recommended. And if you have a strong family history of cancer, a genetic counselor might recommend additional genetic testing that looks for many more variants in different genes. 
<h6>Learn alongside your healthcare provider</h6>
Genetics &#8211; as well as environmental, lifestyle, and other factors &#8211; can impact your likelihood of developing certain health conditions or having certain traits. Your healthcare provider may use the report to prompt confirmatory testing, recommend a more extensive genetic test for a broader picture of risk, or increase the frequency of your screenings based on the current recommendations and guidelines.
When you take a 23andMe report to your health care provider, realize it might be the first experience for them seeing a 23andMe report as well. A 23andMe test is often the starting point for learning more about how genetics may impact your body and health. The growing interest in 23andMe’s service means more healthcare providers are having the opportunity to learn and incorporate these insights into their practice. 23andMe has several ongoing initiatives to help bring greater awareness of genomics to the medical community.
<h6>Face the uncertainty together </h6>
Know that feeling overwhelmed or uncertain are common reactions to seeing a genetic report that indicates increased risk for a health condition. Don’t let that stand in your way or prevent you from taking the next step. Any time health information comes to light, there is terminology to learn, newfound knowledge to adjust to, and an opportunity to partner with your healthcare provider. 
Let your provider know how you are feeling about your result and the questions you have. Once you’re able to ask your questions and find out what comes next, you’ll likely notice a change in the way you are feeling. There are multiple ways a healthcare provider can be there with you to help you take that next step.
Your healthcare provider can become your partner in exploring the options and making choices about what to do with the information you’ve learned. If your report shows a variant detected for one of the three variants 23andMe tests for in BRCA1 and BRCA2 genes, it’s important that you reach out to a healthcare provider like 23andMe customers <a href="https://blog.23andme.com/23andme-customer-stories/action-for-health-brca/">Jenn</a> and <a href="https://blog.23andme.com/health-traits/brca1/">Kristy</a> did. Like the providers who worked with Jenn and Kristy, your provider can become your partner as you explore the options for confirmatory testing, screening and prevention. 
At 23andMe, we believe that genetic information is core to all of us. It forms the basis for what makes us similar and unique. 23andMe was founded with the mission of helping people to access, understand, and benefit from this powerful information. 
Finding a healthcare provider who understands the value of genetic information can help create a better care plan for you that is tailored to meet your needs. 23andMe is helping customers make that step easier. Now that Lemonaid Health is part of the 23andMe family, 23andMe customers can connect with a provider in any U.S. state for a Genetic Report Consultation on certain 23andMe Health reports. Learn more about it <a href="https://blog.23andme.com/lemonaid-health/genetic-report-consults/">here</a>.
What now? In order to prepare for a Genetic Report Consultation with a Lemonaid Health provider or an outside healthcare professional, ask yourself:
What is the main area of concern that I want to talk about?
Have I gathered information about my family history related to this concern?
Have I reviewed my genetic ancestry results and might they matter in this particular circumstance?
Would a telehealth appointment work for me to review this, or would I be better served by seeing someone local who might order additional tests or screens?
Where can I find a provider who can understand and talk about my results?
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*23andMe health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports which are based on 23andMe research 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. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child&#8217;s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk.Warnings &amp; Limitations: The 23andMe PGS Genetic Health RIsk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer.  The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. The MUTYH-Associated Polyposis Genetic Health Risk Report is indicated for reporting the Y179C and G396D variants in the MUTYH gene and an increased risk for colorectal cancer.  The two variants included in this report are most common in people of Northern European descent.  These reports do not include variants in other genes linked to hereditary cancers and the absence of variants included in these reports do not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action.  For important information and limitations regarding each genetic health risk and carrier status report, visit 23andme.com/test-info/
**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 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 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 23andme.com/test-info/pharmacogenetics/
***If your family history is limited because you are adopted, donor conceived, have a small family, or are not connected to or in communication with genetic kin, know that family history is only one piece of the puzzle. We encourage you to visit a healthcare provider with your report even if your family history is limited, and make use of your genetic reports until you may have more information in the future.

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

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