During his presentation at the annual meeting of the American Society of Human Genetics (ASHG), National Institutes of Health Director Francis Collins was open about his genotype at the TCF7L2 marker associated with diabetes, noting that he has the “riskier” TT genotype.  Such openness about personal genetic information is consistent with a trend towards increasing comfort with personal genetic information. That trend was in evidence at the ASHG conference, which was attended by more than 7000 scientists, physicians, students and exhibitors.
Several studies presented at the conference focused on reactions people have to receiving personal genetic information.  One study, conducted by David Kaufman and colleagues, was based on a survey of customers of 23andMe and two other companies.  The following four themes are among a number that emerged from the presentations and discussions:
1) People want to be able to decide on their own whether genetic information might be useful to them, rather than have an expert decide for them. 
Some participants in the ASHG meeting questioned the value of obtaining personal genetic information.  They argued that while some genetic tests are predictive, many tests have not been proven to lead to better clinical outcomes. Several scientists, however, have argued that personal utility (a subjective measure) is more relevant than clinical utility (where cost and clinical outcomes are used to calculate utility).  Scott Roberts noted that the personal utility of genetic information may take the form of increased awareness of disease/health risks, more informed health planning, psychological relief, or simply the feeling that &#8220;knowledge is power.&#8221;
A few of the studies presented at the meeting suggest that people do find value in personal genetic information, even when it isn’t highly predictive. When David Kaufman and colleagues at the Genetics and Public Policy Center at Johns Hopkins University asked customers of 23andMe, Navigenics, and DeCodeMe about their motivations for purchasing a personal genome service (PGS), curiosity was high on the list (followed by health concerns related to medical issues in family members).  Ninety percent of customers reported that their curiosity was satisfied, and less than 2% were unsatisfied with the overall personal genome service they had received.
In a separate study, S. C. Sanderson of Mount Sinai School of Medicine surveyed 131 college students who smoke, and found that even though the students understood that a GSTM1 variant associated with lung cancer risk is not highly predictive, they were nonetheless interested in obtaining their genotype for that variant.  These preliminary results suggest that there is interest in a broad array of genetic information.
2) Customers of direct access personal genomics services (PGS) generally understand the results they are receiving. 
A question in the minds of many is how well consumers understand personal genetic information.  David Kaufman and colleagues found that when they presented PGS customers with hypothetical sets of results for two different individuals, 93-95% of the study participants correctly interpreted the results. Furthermore, advanced education was not a prerequisite for &#8212; nor a guarantee of &#8212; understanding; people without college degrees understood the information more than 90% of the time, and people with postgraduate degrees still made mistakes. A study of individuals participating in the Coriell Personalized Medicine Collaborative (CPMC) conducted by Barbara Bernhardt of the University of Pennsylvania reached similar findings. While 23andMe is excited that these preliminary findings show that people generally understand their genetic information, we are constantly striving to improve how we communicate this information to customers.
3) Early studies indicate that people are not overly anxious about the personal genetic information they have received. 
The REVEAL study, which celebrated its 10th year at the ASHG meeting, has gathered extensive data regarding emotional responses to personal genetic information, finding that there is little difference in anxiety levels between people who learn that they have a genetic variant that puts them at higher risk of Alzheimer’s disease and people who learn that they do not. However, this study focused on a single genetic variant, involved relatives of individuals with Alzheimer’s disease, included presentation of results in person or via telephone, and excluded individuals who had a history of anxiety or depression, and so results may not extend to direct access personal genome services.
In contrast, in the study conducted by Barbara Bernhardt and her colleagues, individuals received results for multiple genetic variants associated with multiple diseases, where participants were not selected for having a particular family history.  The researchers found that no participants in this study reported being overly concerned about their risks based on genetics. While small, this study is among the first to evaluate emotional responses to results from a set of multiple genetic tests associated with multiple disorders.
4) Many customers of direct access personal genomics services are motivated to make positive changes in health-related behaviors. 
The study conducted by Barbara Bernhardt and colleagues found that about a third of the participants who received personalized genetic risk information responded by making a positive change in health-related behaviors. Most were making small changes such as exercising more. Most of those who said that they weren’t making changes said they felt that they were already doing the right thing.  Similarly, the study conducted by David Kaufman and colleagues found that about a third of PGS customers were being more careful about their diet, 15% had modified their intake of medications or supplements, and 14% were exercising more.  The REVEAL study found evidence of increased exercise in response to communication of both Alzheimer’s disease risk and cardiovascular disease risk associated with a specific genetic variant.
At a press briefing about these findings, a reporter asked the panel of scientists if people were wasting money on direct-to-consumer genetic services.  Bernhardt replied that if people’s curiosity is satisfied, and if people are making positive changes in health-related behaviors, then that is a good outcome.  Kaufman added that 90% of the PGS customers in his study responded that the service was worth the price.  And Andrew Faucett of Emory University, who spoke separately on oversight of genetic testing, replied that if the service helps people start a conversation with their physician, that’s good.
In summary
There is still much to be done in terms of better understanding how people interpret personal genetic information and what factors influence their reactions.  For instance, the jury is still out on whether or not obtaining personal genetic information leads to improved health-related behaviors in the long term.  But the early studies reported last week at the ASHG meeting are an exciting step towards that understanding.

23andMe Blog

23andMe Blog Team

How People React to Personal Genetic Information

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by David Hinds
A small study conducted by researchers at the Cleveland Clinic and reported at last week&#8217;s American Society of Human Genetics annual meeting found that family health history (FH) often gave different assessments of cancer risk than SNP-based personal genomic (PG) risk assessments obtained from <a href="http://www.navigenics.com/" target="_blank" rel="noopener noreferrer">Navigenics</a>. The results have been characterized in the popular press as demonstrating that FH is superior to PG in predicting who is at increased risk of disease. We believe that research in this area is important, but felt that the conclusions of the study were not necessarily supported by the study&#8217;s design. 
What is family history risk assessment?
An identifying feature of many genetic diseases is that they tend to &#8220;run in families&#8221;.  Families also tend to share similar environmental risk factors. Collecting health information about family members can thus provide important clues about an individual&#8217;s risk of disease. Family history risk assessment is typically performed by genetic counselors using structured methods so that the results can be easily compared with guidelines for relating history to disease risk. There are also <a href="http://www.hhs.gov/familyhistory/portrait/index.html" target="_blank" rel="noopener noreferrer">online tools</a> for recording family histories, and <a href="https://familyhealthlink.osumc.edu/Notice.aspx" target="_blank" rel="noopener noreferrer">some disease risk calculators</a> can take advantage of this information.
Family history is known to be especially helpful for identifying individuals at substantially elevated risk of disease because their families carry rare, high-risk variants (such as mutations in BRCA1 and BRCA2, for breast and ovarian cancer).
<h6>What is SNP-based risk assessment?</h6>
SNP-based personal genomic risk assessment is currently based on results of studies demonstrating that specific common genetic variants are correlated with disease risk. These common variants generally have small effects, but in aggregate, may contribute to more cases of disease in the population than rare variants like BRCA1/2.  Navigenics and 23andMe use similar methods for combining information from multiple markers to arrive at an estimate of an individual&#8217;s risk.  As with family history, SNP-based tests only account for a subset of risk factors, and are most informative for the subset of individuals whose estimated risk is substantially different from the population average.
Some personal genomics services, such as 23andMe, include variants other than common SNPs in their risk assessments. In the future, personal genomic risk assessments may routinely apply technologies beyond SNP-based genotyping to form a more comprehensive picture of an individual&#8217;s genetic landscape.
<h5>What did the study show?</h5>
The researchers identified 22 patients in a genomic medicine clinic who either had cancer themselves or a family history of cancer, and their spouses. All 44 received FH assessments, as well as the Navigenics SNP-based PG risk assessment. There was generally poor agreement between the FH results and PG results. In addition, five of the 22 patients were later found to carry high risk mutations for an inherited form of colon cancer, but were not identified as high risk by the PG test.
<h6>What does this really mean?</h6>
The inconsistency between FH and PG observed in this study is largely due to a fundamental difference between the two types of tests. Family history is most effective at identifying individuals with familial cancer syndromes related to rare mutations with large effects, while SNP-based tests use common variations with smaller effects. The two types of tests are thus measuring very different things.
The two methods also may not be assessing the same underlying conditions. There is no doubt that individuals with <a href="https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer" target="_blank" rel="noopener noreferrer">hereditary nonpolyposis colorectal cancer</a> or <a href="https://en.wikipedia.org/wiki/Familial_adenomatous_polyposis" target="_blank" rel="noopener noreferrer">familial adenomatous polyposis</a> have a different spectrum of disease than typical colon cancer patients. Familial syndromes also represent only a small proportion of all cancers (5% of all colon cancers).
Furthermore, the Cleveland Clinic study started from the presumption that FH was the &#8220;gold standard&#8221;, so any deviations in the PG results were considered errors. In our opinion, this is not an appropriate starting point for performing a head-to-head assessment of test performance. Such an assessment would, ideally, evaluate the accuracy of the two tests in a set of individuals not previously screened for a positive family history, as some of the participants in this study were.
Perhaps the most troubling suggestion from the study was that individuals at high risk based on family history might choose a PG  test, and be misled by a result indicating they were at low risk. 23andMe disease risk reports all discuss the limitations of the tests and the importance of family history as well as other environmental and undiscovered genetic risk factors.  The suggestion also neglects any benefits of PG testing for the large majority of individuals who do not have a positive family history of disease.
<h6>Where do we go from here?</h6>
At 23andMe, we are committed to increasing scientific knowledge of the genetic basis of human diseases and traits, and we are conducting research to evaluate and improve the predictive accuracy of our genetic risk models. As we learn more about the genetic factors underlying disease, genetic information should become increasingly valuable in developing risk assessments, and will be complementary to methods such as family history. Ultimately, we believe that the path forward will involve integrated, individualized risk assessment based on family history, personal genetics, and environmental risk factors.

Family History and Personal Genetic Risk Assessments: A Perspective on the Cleveland Clinic Study

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When is the best time to start a family? In making this decision, each woman must weigh external factors against her internal biological clock. In Caucasian women, <a title="menopause" href="https://health.google.com/health/ref/Menopause" target="_blank" rel="noopener noreferrer">menopause</a> occurs around 51 years of age, with a normal range between 40 and 60 years. Although post-menopausal infertility is widely recognized, many women may not know that they are at risk for infertility the decade before menopause as well. With more women delaying childbirth, a need exists for long-term indicators to allow women to make more informed reproductive decisions well in advance of menopause onset.
Studies have shown that the timing of menopause has a genetic component and four SNPs have already been linked to age of onset. In a <a title="Human Molecular Genetics" href="http://hmg.oxfordjournals.org/content/early/2010/10/26/hmg.ddq417.full.pdf+html" target="_blank" rel="noopener noreferrer">study</a> published last week, Anne Murray and her colleagues from the University of Exeter explored whether these SNPs also influence risk of menopause occurring before age 46 (early menopause) in a group of 4000 Caucasian women (~2000 with early menopause, ~2000 with normal menopause age). Based on their findings, the authors suggest that all four SNPs are associated with an elevated risk of a younger menopause age. The number of risky versions present is also important, where more variants means higher early menopause odds.
Murray’s team also tested the association of the “menopause SNPs” with cases of very early menopause (&lt; age 40), termed <a title="premature ovarian failure" href="https://health.google.com/health/ref/Ovarian+hypofunction" target="_blank" rel="noopener noreferrer">premature ovarian failure</a> (POF). Surprisingly, they found that has less of an influence on POF than on the risk of just “early” menopause (age 40-45).
The average age of first-time mothers has risen steadily over the last four decades, due, in part, to the eight-fold increase in the number of women entering motherhood over age 35. The authors suggest that genetic testing for early menopause could provide younger women with a better defined range of their childbearing years. Of course, women must consider many factors when deciding to start a family and the current predictive power of known SNPs is too limited to override other important life choices. However, as more SNPs are discovered and their role in menopause becomes better understood, genetic testing for early menopause risk may eventually be useful for some women.

Genetic Variants Associated with Early Menopause Risk

<div>
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By Kim Barnholt and Amy Kiefer
It’s an exciting week for 23andMe! A number of our research scientists have headed to Washington, D.C. to showcase some of our research discoveries at the annual meeting of the <a title="ASHG" href="http://www.ashg.org/" target="_blank" rel="noopener noreferrer">American Society of Human Genetics</a> (ASHG). ASHG is the primary professional membership organization for human geneticists worldwide, including 8,000 researchers, academicians, clinicians, genetic counselors, nurses, and industry professionals. This conference is one of the largest gatherings of human genetics specialists in the world and features a packed schedule of presentations, poster sessions, and exhibits during the November 2-6 event.
A few highlights from 23andMe’s conference presentations: 

<ul>
<li>With our cohort of over 3500 Parkinson’s patients and 20,000 controls, we replicate five known genetic markers for Parkinson’s disease and identify four novel associations with variants not previously known to be linked to the disease.</li>
<li>Demonstrating the power of our unique web-based approach to research, we replicate more than 100 known associations for more than 65 medical conditions, including type 2 diabetes, prostate cancer, and multiple sclerosis.</li>
<li>We report on previously unknown associations for genetic variants that influence hair color, hair curl, and yes, hair loss.</li>
<li>We report a robust new association &nbsp;between mumps susceptibility and a variant in the FUT2 &nbsp;gene which is also &nbsp;known to influence susceptibility to norovirus, the so-called Cruise Ship Virus.</li>
</ul>
We are excited to share our progress with you, and we plan to add more 23andMe reports as we move these discoveries through the scientific publication process. We are proud that our research efforts end not only in articles for the academic community, but also in the return of our findings to you, our participants, in the form of new 23andMe reports.
We believe that the results we are presenting this week demonstrate the enormous value and power of our research approach. If you have not already participated, now is a great time to <a title="survey" href="https://www.23andme.com/you/23andwe/surveys/" target="_blank" rel="noopener noreferrer">take a survey</a> or complete some research snippets. If you have already contributed, thank you, and please keep up the good work!
</div>

Kim Barnholt

23andMe at International Human Genetics Meeting

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A premier event in personalized medicine comes to Silicon Valley January 18-19 as the Computer History Museum in Mountain View is set to host the 2011 Personalized Medicine World Conference (PMWC). Now in its third year, this conference mixes leading-edge technologies, forward-thinking scientists, health-minded entrepreneurs, and government initiatives to accelerate developments in personalized medicine. The impressive lineup of speakers and panelists includes George Church (Professor at Harvard University and founder of the <a href="http://www.personalgenomes.org/" target="_blank" rel="noopener noreferrer">Personal Genome Project</a>, also on 23andMe&#8217;s Scientific Advisory Board) and Leroy Hood (President of the Institute for Systems Biology and keynote speaker at our Genomics and the Consumer Policy Forum last July), as well as 23andMe&#8217;s own Anne Wojcicki.
In addition to keynote presentations and panel discussions, PMWC 2011 will feature industry exhibits, a &#8220;Most Promising Company&#8221; award competition, and unparalleled networking opportunities. The two-day program includes sessions on personalized cancer medicine, emerging technologies, economics and regulation, and personal wellness.
Participants view the conference as an extremely valuable experience and a driver of change in this burgeoning field. In a press release, Dr. Hood said,
<blockquote>
&#8220;PMWC 2011 provides a unique value by bringing key decision-makers and influencers from diverse disciplines together to drive the Personalized Medicine revolution.&#8221;
</blockquote>
23andMe is excited to be taking part in this year&#8217;s event. For more information about the 2011 Personalized Medicine World Conference, visit their website.
PMWC 2011 is co-hosted by Stanford Hospital &amp; Clinics and Silicom Ventures.

The Personalized Medicine World Conference Comes to Silicon Valley in 2011

Sheridan* can hardly believe that using 23andMe ancestry tools allowed her to learn something about her deep ancestry on her mother’s side, placed herself genetically among the different populations of the world, connected with a potential fifth cousin, discovered a potential second cousin, and traced a fourth cousin shared DNA connection with her life-long friend Brian (who has Irish ancestry) to a specific spot in their genomes.
When they last parted, Brian had promised to go through his collection of genealogical records for historical clues and Sheridan had sent an introductory message to her intriguing second cousin match.
Now, a few days later, Sheridan and Brian are back in the coffee shop, heads bent over Brian’s dog-eared notebook.
Labeled photographs, scraps of note paper, and photocopied documents stuffed into manila folders lay strewn across the table.
“So the most promising records I have are from my father’s side of the family in the mid-18th century,” says Brian, pointing at a square on a family tree diagram.
“My paternal grandfather Ryan Killoran was my first direct ancestor in the U.S. But I’m not sure if our connection would be through that line anyway &#8212; if it was, it would have to be through one of my ancestors in Ireland.”
He taps the page and traces his finger up the tree.
“But I’ve traced his line in Ireland back to Molly Murphy, my great-great-great-great grandmother, born 1846 in Dublin. Even though her son Colm Murphy stayed in Ireland, her daughter &#8212; my great-great-great grand&#8230; aunt? &#8212; Orla Murphy married Donal Fitzpatrick and they settled in South Carolina in around 1889. I found some records of property that they owned there.”
Gesturing to the piles of paper on the table, Brian says, “The rest of this is pretty much about Killorans and Murphys. Some newspaper clippings with marriage announcements and obituaries, more property records, census records, the ship passenger list my grandfather was on, some notes my grandfather had brought with him&#8230;”
Sheridan had been staring intently at the diagram Brian had drawn out.
“So you think our common ancestor might be Molly Murphy, through Orla and Donal Fitzpatrick on my side and Colm Murphy on your side?”
“That’s my guess,” shrugs Brian, “but there are a lot of possibilities!”
Well, I got a reply from my second cousin yesterday asking if there was anything I knew that might be useful,” says Sheridan. “I wrote back saying that I had an Irish fourth cousin and an African-American fifth cousin match. In fact, I should log in now and see if he’s replied!”
Opening up her laptop, she quickly logs in to her 23andMe account and finds a new message from her second cousin in her inbox.
<blockquote>Hi Sheridan,
An Irish fourth cousin, you say? That’s interesting &#8212; My grandmother’s sister (on my father’s side) married a Fitzpatrick. I think that’s the most relevant surname I can give you. The others I know of kind of range all over: Avey, Wojcicki, Saxonov, Kutcher, Mountain, Gould, Kompel, Khomenko. I can give you a full list if you’d like. I don’t personally have more details about the Fitzpatrick line or any descendants there but I might be able to help find more information through my grandmother. I also don’t have any African ancestry as far as I can tell &#8212; my Ancestry Painting is 100% European.
Cheers, 
Mike</blockquote>
Sheridan and Brian sit stunned for a moment, then, “Fitzpatrick!” Brian cries triumphantly just as Sheridan blurts out “Ancestry Painting?”
They both start talking, stop, then start again. Finally Brian puts his hand up and takes a deep breath.
“Ok,” he says, “So your second cousin Mike’s grandmother’s sister married someone with the last name Fitzpatrick. That’s the same name that my great-great-great grand aunt married into, and the genealogical placement is consistent with both of our match predictions!” He starts furiously scribbling circles and squares and lines on a piece of paper. “But where do I connect this to yours&#8230;” he wonders. “Your mother or your father?”
Trying to follow his haphazard pen-strokes, Sheridan furrows her brow and says, “Wait, can we step back a second? What’s this thing called Ancestry Painting?”
<div style="padding: 10px; margin-bottom: 15px; background-color: #ffc;">Jan 2013 &#8211; Editor&#8217;s note: Ancestry Painting has been significantly updated and is now known as Ancestry Composition. The images below reflect the previous Ancestry Painting. Stay tuned for an update on Sheridan and her new Ancestry Composition!</div>
Brian stops abruptly, pen frozen in the air. “You haven’t looked at your Ancestry Painting?”
“Um.. no,” says Sheridan somewhat sheepishly.
“I kind of got caught up in everything else. Was I supposed to?”
“Well, it’s kind of the first thing most people look at,” Brian explains, shoving his pen and paper out of the way and grabbing his laptop. He shows her his Ancestry Painting as an example.
“I mean, mine just shows 100% European, but yours could actually be really interesting! Go look!”
Sheridan clicks on her Ancestry Painting and a graphical view of her 23 chromosomes appears in a dramatic splash of color.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7687" style="margin-top: 15px; margin-bottom: 15px;" title="sheridan-painting" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-painting.png" alt="" width="536" height="426" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-painting.png 765w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-painting-300x239.png 300w" sizes="auto, (max-width: 536px) 100vw, 536px" />
“Wow, that’s neat!” says Brian, practically clapping his hands in glee. He squints at the screen, trying to parse the color patterns.
“Well, your ancestry’s definitely mixed, all right.”
“So the bottom half of each of the chromosomes is blue,” Sheridan points out. “Does that mean one of my parents is definitely blue? European, I mean?”
“You’re right &#8212; one of your parents has fully European ancestry! With some statistical noise I&#8217;m guessing, but that could be normal&#8230;”
Brian starts jotting down notes on a new sheet of paper. “And the other half is mostly African ancestry but has a bunch of European and a tiny bit of Asian &#8212; I think that’s pretty consistent with African-Americans&#8230; now what else do we know?”
Sheridan recounts the various clues the other ancestry tools at 23andMe have told her. After writing all of this down, they look at the list together:
<div style="margin-top: 15px; margin-bottom: 15px;">
<ol>
<li>One parent 100% European ancestry</li>
<li>One parent mixed ancestry, mostly African (African-American?)</li>
<li>Maternal haplogroup H2a (Probably European, see 1?)</li>
<li>Globally similar to Northern Africans (mixed ancestry &#8211; in between Europe and Africa)</li>
<li>5th cousin African-American</li>
<li>2nd cousin 100% European ancestry, grand-aunt married Fitzpatrick</li>
<li>Brian = 4th cousin, great-great-great grand-aunt married Fitzpatrick and came to U.S.</li>
</ol>
</div>
It’s starting to make sense, Sheridan can feel it, but she can’t quite form a concrete picture in her mind. Brian, though, can tell that a family tree will be useful here, and so he once again takes pen to paper.
“I’m going to guess that your mother is the parent with European ancestry based on the haplogroup,” he muses. “But it’s not necessarily so. Either way, that parent is almost certainly the one through which your second cousin and I are related to you, since your second cousin is 100% European. And then your fifth cousin&#8230; she might be through your other parent, the one that might be African-American&#8230;”
It takes a few false starts and clean slates but finally he thinks he has it mostly worked out.
&#8220;There!&#8221; Brian says triumphantly.
<img loading="lazy" decoding="async" class="aligncenter size-large wp-image-7690" title="sheridan-tree-full" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-tree-full-951x1024.jpg" alt="" width="514" height="553" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-tree-full-951x1024.jpg 951w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-tree-full-279x300.jpg 279w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-tree-full-768x827.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-tree-full-818x880.jpg 818w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-tree-full-1096x1180.jpg 1096w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-tree-full.jpg 1806w" sizes="auto, (max-width: 514px) 100vw, 514px" />
Sheridan pulls the drawing in front of her and stares. It&#8217;s like a map of her past &#8212; or, rather, the people and events in the past that led to her, Sheridan, 27 years old, sitting in a coffee shop and searching for answers. Even though most of it is still uncharted, she can see the paths that connect her to other people such as Mike and Brian. Other paths, such as the one connecting her to Akina, are still a mystery, but she now has a place to start. And through some of her distant relatives, she may eventually be able to fill in the gaps that are her mother and father.
When she finally looks up, Brian punches her playfully in the shoulder.
&#8220;You should see yourself,&#8221; he says. &#8220;You&#8217;ve got this dreamy far-off look and goofy grin going on.&#8221;
&#8220;Why don&#8217;t you you pat yourself on the back some more,&#8221; she flashes back. &#8220;You couldn&#8217;t look more smug!&#8221;
They laugh at each other.
&#8220;Well,&#8221; says Sheridan, as they start packing up, &#8220;I think that&#8217;ll do it for today. And I think I need a drink.&#8221;
Brian looks at his watch. &#8220;It&#8217;s a little after 5 &#8212; we could have some drinks and grab some dinner.&#8221; He zips up his bag and slings it over his head.
&#8220;I know a great Irish pub that serves authentic colcannon&#8230; you know, connect with your roots and all&#8230;&#8221;
&#8220;I don&#8217;t even know what that dish is,&#8221; says Sheridan, &#8220;but I&#8217;d love to.&#8221;
And they head out the door.
* The people and events described in these posts are fictional.

Ancestry at 23andMe: Old Roots and New Horizons

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Coughing, wheezing, lungs encased in steel (or so they seem) &#8230; asthma makes breathing a challenge for nearly 25 million Americans of all ages. Despite the overwhelming number of people affected, this disease continues to be difficult to understand and to treat.
Asthma is divided into two main categories depending on the age of onset. Childhood-onset asthma develops early, before age 16, but may persist as a life-long condition. This subtype of disease is more common in boys than in girls and is often associated with allergies (in some populations). Adult-onset asthma typically develops in middle age and tends to be more prevalent in women than in men. Unlike its early-onset counterpart, later-onset asthma is not necessarily linked to allergy sensitivity  and may be more resistant to treatment.
Asthma shows a strong family component, highlighting a role for genetics in a person’s risk for disease development. But, can we find the risky SNPs? In a recent publication from the <a title="NEJM article" href="http://www.nejm.org/doi/full/10.1056/NEJMoa0906312#t=abstract" target="_blank" rel="noopener noreferrer">New England Journal of Medicine</a>, a group of researchers from a large consortium of asthma studies compared genotypes from more than 25,000 people of European ancestry (roughly 10,000 individuals with diagnosed asthma and more than 15,000 unaffected individuals) to determine potential genes involved in different asthma subtypes.
Although many SNPs identified in this investigation are linked to disease risk at any age, results indicate that one gene region on chromosome 17 is specifically associated with childhood-onset asthma only.  Even among the SNPs linked with asthma risk in general, nearly all demonstrated a stronger effect in childhood rather than later-onset disease. Data did not reveal any genetic influence contributing uniquely to asthma severity or development risk from workplace exposure. The authors also investigated whether SNPs associated with asthma risk corresponded to SNPs known to regulate allergy sensitivity since the two conditions are often linked. Results suggest very little overlap between these two sets of SNPs, leading the authors to speculate that allergy sensitivity is an effect of asthma rather than its cause.
Many of the SNPs identified in this paper are located in genes associated with the immune system’s communication network. Just like human armies, the cellular infantry of your immune system sends messages to coordinate its attack on harmful invaders.  The genes implicated in this study act to communicate alarm signals from damaged airway tissue to immune cells, triggering the airway inflammatory response often associated with an asthmatic attack. This insight into the genetic culprits underlying the development of asthma may help reveal new targets for therapeutic intervention.
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New Insights From Asthma Research

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In our last post, Sheridan* responded to her potential fifth cousin Akina and discovered that she has a potential second cousin through 23andMe’s Relative Finder feature. All of this is exciting, but she’s definitely starting to feel her lack of genealogy experience catching up with her. When she logs into her account next, though, she finds a message from her friend Brian:
<blockquote>Hi Sheridan!
Did you notice that 23andMe predicts us as 4th cousins?? How cool! We should chat about this sometime. Won’t our parents be amused!
Cheers, 
Brian</blockquote>
In fact, Sheridan had been so focused on Akina’s contact request and her exciting second cousin match that she’d totally missed the match a few rows down listing “Brian Killoran” as her potential fourth cousin! She and Brian had grown up together and their parents were still good friends. Sheridan thinks it’s wonderfully ironic given that she’d considered the Killorans as much family as her own. It’s also quite fortuitous because Brian recently developed an interest in genealogy and could show her a bit of what he’s learned. With his help, she might just find out who their shared ancestor was.

<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7628" style="margin-top: 15px; margin-bottom: 15px;" title="sheridan-relfinder-brian" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-relfinder-brian1.png" alt="" width="455" height="108" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-relfinder-brian1.png 455w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-relfinder-brian1-300x71.png 300w" sizes="auto, (max-width: 455px) 100vw, 455px" />
<div style="margin-bottom: 15px; padding: 10px; background-color: #ffc;">Jan 2013 &#8211; Editor&#8217;s note: Ancestry Finder is now known as Countries of Ancestry. &nbsp;Ancestry Labs is sometimes known as Ancestry Tools. Family Inheritance is sometimes known as Family Traits. &nbsp;This post has been updated to reflect these changes. Certain images of Relative Finder may be out of date as this story was created prior to Relative Finder&#8217;s Summer 2011 update.</div>
Sheridan calls Brian up and they agree to meet at the coffee shop down the street. Once there, they set up their laptops side by side and log in to their individual accounts. Brian asks if she’s checked out any of the Ancestry Labs, but aside from reading about the Haplogroup Tree Mutation Mapper (see Sheridan’s <a href="https://blog.23andme.com/2010/09/29/ancestry-at-23andme-introducing-sheridan/">introduction to haplogroups</a>), she hasn’t.
“Oh, yeah,” he nods, “Haplogroup Tree Mutation Mapper is a personal favorite of mine. But right now, the buzz is all around Countries of Ancestry.”
He clicks on Ancestry Tools &gt; Countries of Ancestry in his account and shows Sheridan.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7626" title="brian-ancfinder-full" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1.png" alt="" width="638" height="426" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1.png 912w, https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1-300x200.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1-768x513.png 768w, https://blogcms.23andme.com/wp-content/uploads/2010/10/brian-ancfinder-full1-880x588.png 880w" sizes="auto, (max-width: 638px) 100vw, 638px" />
“Each of the grey bars is a chromosome,” he explains, “And these colored bits are parts of your DNA that you have in common with other people because of shared ancestry. The different colors represent countries where people’s grandparents were born, so this tells you potential ancestry for different parts of your DNA.”
“But how does it know where people&#8217;s grandparents were born?” Sheridan asks.
Brian clicks on a link near the top that says “see how this works” and a detailed description appears.
“Ah,” she says, reading the first paragraph, “So Countries of Ancestry matches are actually Relative Finder matches, and the country information comes from people’s responses to the &#8216;Where Are You From?&#8217; survey.” She falls quiet for a moment, eyes lingering wistfully over those words.
Brian gives her a gentle nudge.
&#8220;Shall we take a look at yours?&#8221;
&#8220;Oh &#8211; yes, of course!&#8221;
Eager to see what her own Ancestry Finder shows, Sheridan opens hers up, but to her disappointment, she only sees a handful of colored bars.
“I usually change the settings to show the most matches. Try changing some of yours,” he suggests, pointing to the area under “Advanced Controls”.
She drags down the minimum segment size and chooses a smaller minimum number of grandparents, and her chromosomes immediately light up with a rainbow of colors.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7598" title="sheridan-ancfinder-noUS" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-ancfinder-noUS.png" alt="" width="602" height="567" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-ancfinder-noUS.png 781w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-ancfinder-noUS-300x283.png 300w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-ancfinder-noUS-768x724.png 768w" sizes="auto, (max-width: 602px) 100vw, 602px" />
“How about this one?” she asks, checking off a setting that says, “Include matches primarily from the US, Canada, Australia, New Zealand &amp; South Africa.”
Her chromosomes fill up almost completely with blue colored bars.
“Well, people being born in the U.S. and these other countries doesn’t really say much about ancestry since people moved to these countries from all over,” Brian explains. “But you share a lot of DNA with people whose families have been in America for a while. It’s not always that useful to see.”
For Sheridan, though, even that bit of knowledge is interesting.
After a moment, Sheridan asks, “What about you? We’re supposedly fourth cousins, so does that mean you’re on here somewhere?”
“Hmm.” Brian squints at her screen. “Well, my four grandparents were all born in Ireland, so maybe if we clean this up a little&#8230;”
He moves the minimum number of grandparents back up to four. Almost all of the colored bars vanish. Of the ones that remain, Brian drags the mouse over to a strip of four pinkish-red colored bars on chromosome 10.
“This is probably me,” he says.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-7596" title="sheridan-ancfinder-brian" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-ancfinder-brian.png" alt="" width="631" height="373" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-ancfinder-brian.png 751w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-ancfinder-brian-300x177.png 300w" sizes="auto, (max-width: 631px) 100vw, 631px" />
“Wait-” Sheridan taps his arm and points to chromosome 20. “What about that over there?”
“Oh, you’re right, that could be me, too.” Brian scratches his head. “I know!”
He goes back to his account and clicks on Family Traits. “This tool compares two people and shows where you share DNA.”
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-7619" title="sheridan-inheritance" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/sheridan-inheritance.png" alt="" width="356" height="213" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-inheritance.png 356w, https://blogcms.23andme.com/wp-content/uploads/2010/10/sheridan-inheritance-300x179.png 300w" sizes="auto, (max-width: 356px) 100vw, 356px" />
The screen shows another view of the 23 pairs of chromosomes. Brian selects Sheridan’s name from a drop-down list of his shares and a bright blue strip representing a half-identical region of DNA appears on chromosome 20.
“So I guess that means I’m actually those pink bars on chromosome 20!” he says.
Sheridan is impressed at this level of detail, but still wondering if they can figure out their ancestral connection. For that, Brian says, they’ll need to go hunting the old-fashioned way. Although his own parents weren’t born in the United States, he knows that some of his ancestors immigrated here in the late 1800’s and he’s been collecting whatever historical records he can find. They decide to meet up again in a few days after he’s looked through his files.
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In the meantime, Brian suggests that she contact her second cousin match. “Maybe it will give us a clue about our ancestral connection,” he says, “but even if it doesn’t, it’s still a clue about your family tree.”
With this encouragement, Sheridan clicks “make contact” and sends a customized introduction to her predicted second cousin:
<blockquote>Hello,
My name is Sheridan. 23andMe has identified us as potential 2nd cousins. I’m adopted, and hoping to learn more about my biological relatives! Would you be interested in communicating further to see how we might be related?
 Sheridan</blockquote>
She finishes her coffee and bids goodbye to Brian. She can’t wait to see what they can figure out at their next meeting.
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Other posts in this series:
<a href="https://blog.23andme.com/2010/09/16/ancestry-at-23andme-what-can-you-learn/">What Can You Learn?</a> &#8211; An overview of 23andMe&#8217;s ancestry features.
<a href="https://blog.23andme.com/2010/09/29/ancestry-at-23andme-introducing-sheridan/">Introducing Sheridan</a> &#8211; We meet Sheridan and she learns about her maternal haplogroups.
<a href="https://blog.23andme.com/2010/10/08/ancestry-at-23andme-sheridans-global-origins/">Sheridan&#8217;s Global Origins</a> &#8211; Sheridan compares herself and her friends to various populations around the world.
<a href="https://blog.23andme.com/2010/10/15/ancestry-at-23andme-sheridans-got-relatives/">Sheridan&#8217;s Got Relatives</a> &#8211; Sheridan responds to a fifth cousin and discovers a predicted second cousin in the 23andMe database.
(next) <a href="https://blog.23andme.com/2010/10/29/ancestry-at-23andme-old-roots-and-new-horizons/">Old Roots and New Horizons</a> &#8211; Sheridan and Brian put together the pieces to sketch out their shared family tree.
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* The people and events described in these posts are fictional.

Ancestry at 23andMe: Finding Connections

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You’ve probably heard about the fruit-based analogies to describe body shape. “Apples” tend to carry more weight around their waist whereas “pears” tend to be heavier around the hips and thighs. But the differences between apples and pears extend beyond simple appearance. Studies have shown that physical shape, primarily where you carry your excess weight, can have a profound impact on your overall health. Bad news for the apples &#8230; people who are rounder around the middle appear to be at greater risk for developing heart disease and type 2 diabetes than their pear-counterparts.
So, which fruit are you? One way to determine your body fat distribution pattern is to calculate your waist-hip ratio (WHR) by dividing the distance around your waist (measured just above the belly button) by the distance around your hips (measured at the widest part). A WHR over 0.8 for women or 0.95 for men is considered high and categorized as a risk factor for metabolic disease.
In a recent publication from <a title="Nature Genetics" href="https://dx.doi.org/10.1038/ng.685" target="_blank" rel="noopener">Nature Genetics</a>, a team of scientists from the Genetic Investigation of Anthropometric Traits (GIANT) report their findings from a two-phase study into how genetics influence waist and hip size. This investigation, including nearly 200,000 people of European descent drawn from more than 50 studies, is one of the largest genetic studies ever carried out for any trait. Following an impressive data analysis effort, authors announced the identification of 14 SNPs (13 new and one previously reported) associated with body fat distribution.
In addition to exciting new SNP discoveries, results from this study suggest that genetics play a more significant role in determining body fat distribution in women than in men. In women, not only do more of the SNPs associate with WHR (12 of 14 SNPs compared to three of 14 SNPs in men), but they also appear to have greater influence on waist and hip size.
The study authors also hint at potential associations between the 14 SNPs identified in their research and common risk factors for heart disease and type 2 diabetes. For example, the T version of showed strong associations with elevated triglycerides and insulin resistance. The risky versions of , ( in the 23andMe database*), and also demonstrate significant association with type 2 diabetes.
As with obesity and many other conditions with a strong environmental component, genes only account for a small piece of the puzzle underlying variability in body fat distribution.  Even so, this study establishes an important observation: the SNPs associated with body fat distribution (measured by WHR) appear to be mostly distinct from those SNPs associated with overall body fat content (measured by body mass index (BMI)). Since the location of body fat plays a pivotal role in disease risk, a better understanding of the genetic risk factors underlying increased waist and hip size may lead to improved therapies or lifestyle recommendations.

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