There is strength in numbers. With the help of our participants, we are well on our way to achieving our 1,000 person Sarcoma Community milestone. Thank you!
We have over 500 individuals who have joined our sarcoma group from all over the world and with ties to several different patient organizations. Just to give you an idea of how far we&#8217;ve come…
<ul>
<li>23andMe has shipped 550 kits to community members all over the globe</li>
<li>Over 400 Sarcoma Community members have logged in and claimed their kits</li>
<li>Over 270 Sarcoma Community members have taken the sarcoma survey</li>
</ul>
The potential of this community to make a difference in the understanding of sarcoma and the development of effective therapies is enormous. The value in research comes from participants sharing with us their genetic information and survey responses. If you&#8217;ve already joined this effort, please remember to claim those kits, send in your spit, and fill out the sarcoma survey if you have not done so already!
We need everyone&#8217;s help in spreading the word about our 23andMe Sarcoma Community to reach that 1,000 person goal. If you are part of any sarcoma online forums, advocacy groups, or social networking sites, please let your community know about our research efforts at 23andMe. The link to share is: <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">https://www.23andme.com/sarcoma</a>.
In this update, we&#8217;d also like to share a story from Nathalie Criou, a sarcoma survivor and founder of Beat Sarcoma. Nathalie has been instrumental in the 23andMe Sarcoma Community outreach effort. Her experiences and advocacy related to sarcoma are truly inspiring.
<blockquote>
I was diagnosed with sarcoma in late 2006, and spent most of 2007 in treatment for the disease. After my diagnosis, I was struck by how little was known about sarcoma and how difficult it was to find people in my situation. The local oncologists referred me to sarcoma center specialists &#8211; however, these world specialists had very little understanding of the disease themselves and even an accurate diagnosis was hard to find!
I received 8 different sarcoma diagnoses and 7 different treatment recommendations. I spent hours researching published papers on sarcoma to help me decide on a treatment path. I realized that most studies were not significant because the number of enrolled patients averaged about 3&#8230;There was no way to gauge how *I* would respond to any particular approach. My physicians referred to my treatments as &#8216;experimental&#8217;, &#8216;unproven&#8217;. I felt like anything would be a big shot in the dark&#8230;and I probably had only one shot&#8230;
Research in this field is trailing that of other cancers, yet sarcoma represents 20% of all childhood cancers, pointing at some genetic causes that could never be established through a lack of scalable research programs. This situation was unacceptable to me and I created a nonprofit, BeatSarcoma, as a vehicle for change. When 23andMe approached me with their idea of building a sarcoma community and free large-scale research program, I was thrilled. It addressed exactly the two most critical needs of the sarcoma community with a format that is perfect for our scattered group. Sarcoma research must be innovative, as traditional research formats have not yielded results so far. 23andMe embodies this spirit of innovation.
23andMe is eager to work with sarcoma specialists to drive toward the best possible results and has actively pursued partnerships with the world-leading experts. I immediately signed up to help in my own little ways and I will continue to do anything I can to support this effort. I really want this program to succeed so we can further our understanding of sarcoma. I trust that the model can be replicated over other cases of rare diseases.
Please help us spread the word through your local sarcoma organization, physicians and fellow patients or survivors. The success of this program rests on our shoulders!
&#8211; Natalie Criou
</blockquote>
We hope to have more stories and updates to share soon, but until then, please help us build this important research community!

23andMe Blog

23andMe Blog Team

A Sarcoma Community Update and Survivor Story

&nbsp;



Most people have never heard of osteochondrodysplasia, glycogen storage disease, or a thousand other conditions with names we may or may not be able to pronounce. 



Each of these diseases is extremely rare individually. Some, like medium-chain acyl-CoA dehydrogenase deficiency, may affect about one person in 15,000. Still, other diseases may have only a few diagnosed patients—when a diagnosis can be made at all.



<h2 class="wp-block-heading" id="h-shared-struggle">Shared Struggle</h2>



Although their symptoms may be very different, people living with rare diseases often share similar struggles, searching for answers and receiving treatment. With so few affected individuals, awareness, funding, and research towards cures for rare diseases lag dramatically behind research on more common medical conditions.



The reality is that hundreds of millions of people worldwide are affected collectively by nearly 7,000 rare diseases, the vast majority lacking treatments. In the United States alone, it’s estimated that as many as one in 10 Americans suffers from a rare disease.



<figure class="wp-block-image alignright"><img loading="lazy" decoding="async" width="236" height="174" src="https://blog-api.23andme.com/wp-content/uploads/2011/02/globalgeneslogo.png" alt="Global Genes Project logo" class="wp-image-8519" title="globalgeneslogo"/></figure>







<h2 class="wp-block-heading" id="h-global-effort">Global Effort</h2>



<a href="http://www.rarediseaseday.org" target="_blank" rel="noopener noreferrer">Rare Disease Day</a> was launched to bring the health challenges of rare diseases to the global fore, and many events are taking place today to allow people to show their support for this cause. The Global Genes Project plays a crucial role in this effort, having signed up such groups as the National Society of Genetic Counselors, Pfizer, Medpedia, Illumina, various advocacy organizations, and many others.



In the United States, rare disease initiatives are starting to make progress. The National Organization for Rare Disorders (<a href="http://www.rarediseases.org/" target="_blank" rel="noopener noreferrer">NORD</a>), which offers numerous resources for rare disease research and advocacy, has helped to create a congressional forum dedicated to rare diseases. 



The National Institutes of Health also has an <a href="http://rarediseases.info.nih.gov/" target="_blank" rel="noopener noreferrer">Office of Rare Diseases Research</a> to aid scientists and others interested in obtaining research funding or information on rare diseases. And online tools and social media are helping individuals to build robust support networks. At websites like <a href="http://inspire.com" target="_blank" rel="noopener noreferrer">Inspire</a> and <a href="http://www.patientslikeme.com" target="_blank" rel="noopener noreferrer">PatientsLikeMe</a>, people can share their stories, connect to the latest news and research, and learn from others with similar experiences.



<h2 class="wp-block-heading" id="h-personal-stories">Personal Stories</h2>



A common theme in stories told by people with rare diseases is a desire for information. One of 23andMe’s core goals is to empower individuals through access to their genetic data.  Most rare diseases are caused by alterations in a person’s genetic make-up &#8212; usually inherited, but sometimes unique to that individual.  We are learning more daily about the genetic factors involved in personal health and believe genetic information will only become more valuable over time.



23andMe also recognizes the importance of supporting research for rare diseases and is committed to applying our unique, participant-driven research platform to further knowledge about these diseases and potential treatments. We launched a  <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">Sarcoma</a> research community last year, and patients affected by sarcoma can join this initiative to take an active role in research. Customers without a rare disease can <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">contribute to research </a>as well. We plan to expand our efforts to additional rare diseases in the future.



As Joyce Graff of the von Hippel-Lindau Family Alliance <a href="http://www.inspire.com/static/inspire/reports/inspire-rare-disease-day-report-2011.pdf" target="_blank" rel="noopener noreferrer">puts it</a>, “While each disease is rare, the experience of having a rare disease is not rare.” Show your support for the millions of people affected by rare diseases and <a href="http://www.rarediseaseday.org/article/get-involved" target="_blank" rel="noopener noreferrer">learn more</a> about ways to get involved.

Help Fight Rare Disease

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Obesity is an enormous public health concern in the United States, affecting about 33% of adults and 20% of children and adolescents.
<h2>The Genetic Contribution to Obesity</h2>
While lifestyle and environmental factors play an undeniable role in whether an individual becomes obese, researchers have also uncovered common genetic variants that influence risk for the condition. One of the best-studied variants is in the FTO gene, associated with obesity in young adults. However, studies in different age groups have revealed subtle differences in the effect of the FTO variant on obesity risk.
To better characterize the effects of throughout childhood development, an international team of researchers from the Early Growth Genetics Consortium (EGGC) analyzed data from eight study populations, totaling nearly 20,000 individuals of European descent. Their results, published last week in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1001307" target="_blank" rel="noopener">PLoS Genetics</a>, showed a distinct genetic association with BMI that depended on age.
<h2>Looking at Age</h2>
In older children (ages 6-13), the variant was associated with a slight increase in BMI. The opposite was true in children younger than two years.
<img loading="lazy" decoding="async" class="alignright wp-image-8507 size-medium" title="journal.pgen.1001307.g002" src="http://35.88.189.111/wp-content/uploads/2011/02/journal.pgen_.1001307.g002-300x295.png" alt="BMI versus age by FTO genotype" width="300" height="295" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/02/journal.pgen_.1001307.g002-300x295.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/02/journal.pgen_.1001307.g002.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The switch in association from lower BMI to higher BMI occurred between 4-6 years of age, corresponding with a phenomenon known as “adiposity rebound” (AR). During normal development, infants experience rapidly increasing BMI, peaking around age one, followed by decreasing BMI that bottoms out around age five before rising again. AR refers to this second rise in BMI, and the EGGC study found that the A version of was also associated with earlier AR. (See figure to the right from the EGGC paper.)
<h2>FTO and Obesity</h2>
It turns out that the timing of AR can have implications later in life. <a href="https://www.nature.com/ijo/journal/v30/n4s/full/0803514a.html" target="_blank" rel="noopener">Multiple studies</a> have linked earlier AR to higher BMI in adulthood, along with increased risk for obesity-related diseases such as heart disease and type 2 diabetes.
Based on their findings, the EGGC researchers suggest that the connection between the FTO gene and obesity may have less to do with a general predisposition to obesity and more to do with childhood development and timing of AR. This observation may provide greater insight into the biological mechanisms underlying obesity, though additional studies are needed to confirm and refine the EGGC results.

Association Between FTO Variant and Obesity Depends on Age and Impacts Development

<img loading="lazy" decoding="async" class="alignright size-full wp-image-8490" src="https://blog-api.23andme.com/wp-content/uploads/2011/02/mammogramblog.jpg" alt="" width="300" height="199" />
Mammography is a common imaging method used to screen for breast cancer, the second most common cancer in women. The result of a mammogram is a simple black and white image of the tissues that make up the breast. But even an image displaying apparently healthy breast tissue may still show signs that could be useful in assessing risk for breast cancer. It turns out that density &#8212; the proportion of dense (white) areas that appear on a mammogram &#8212; matters. In the last decade, research has revealed that women with high mammographic density (&gt;75% dense tissue on a mammogram) have four to five times higher risk for breast cancer.
Characteristics such as age and BMI can affect mammographic density, but it’s estimated that over 60% of the variability in mammographic density is due to genetic factors. In an effort to identify these genetic factors, a multi-national team of researchers searched for genetic variants linked to this trait in 7,712 European women with known breast density. In results published recently in <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.760.html" target="_blank" rel="noopener">Nature Genetics</a>, the researchers identified a variant in a gene called ZNF365 that is correlated with breast density. They found a variant associated with a 2% decrease in mammographic density.   This association of with breast cancer replicated a <a href="https://www.nature.com/ng/journal/v42/n6/full/ng.586.html" target="_blank" rel="noopener">similar result</a> found by another research group in 2010.
While the authors state that the effects of may only account for a fraction of the of the variability in mammographic density, they note that this seemingly small decrease in density is also associated with a meaningful decrease in breast cancer risk. Although the data from this study suggests that genetic variation in ZNF365 could be affecting breast cancer risk by influencing mammographic density, further research is required to confirm this finding and to determine the other genetic factors that are involved.

Researchers Identify Variant Associated with Breast Density

Imagine if the simple act of eating triggered your immune system to mistakenly mount an attack inside your own body.
Nearly three million people with Crohn’s or celiac disease face this distinct possibility every day in the United States, and they quickly learn that specific foods lead to a debilitating reaction.
<h6>Crohn&#8217;s and Celiac Differ</h6>
But while the two diseases share some similarities &#8212; both are autoimmune conditions localized to the digestive system &#8212; they also have many differences. For example, celiac disease is confined to the small intestine and is specifically a reaction to ingested gluten, while Crohn’s disease can occur anywhere in the digestive tract when an overactive immune system attacks “friendly” bacteria in the gut that normally help us to break down what we eat.
Despite these differences, evidence suggests that the two diseases may share some of the same risk factors and underlying causes.
<h6>Heritability</h6>
The two diseases sometimes run in families, and Crohn’s disease &#8212; which is usually quite rare &#8212; may be more common in individuals who have celiac disease. Variants near two genes, PTPN2 and IL18RAP, have already been identified as genetic factors shared between the two diseases, but researchers believe there to be more.
Recently, an international team of scientists led by Eleonora Festen of the University of Groningen in The Netherlands and Phillippe Goyette of the University of Montreal set out to uncover additional genetic risk factors contributing to both celiac disease and Crohn’s in nearly 10,000 subjects with either disease and more than 10,000 healthy individuals, all of European ancestry.
<h6>New Findings</h6>
Their results, published last month in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1001283" target="_blank" rel="noopener">PLoS Genetics</a>, confirmed the shared associations at PTPN2 and IL18RAP and identified two other shared risk variants near the PUS10 and TAGAP genes.
Variants near PUS10 have previously been shown to be associated with Crohn’s disease, as well as with celiac disease and ulcerative colitis, another bowel disorder; however, different factors seem to connect the three diseases to one another, suggesting that different variants near this gene may have different effects on disease development. The TAGAP gene was previously only associated with celiac disease, but it is thought to play a role in the immune system, making its newly identified link to Crohn’s disease more plausible. Future research may incorporate these results into elucidating the shared biological basis of these two diseases.

Researchers Identify Risk Variants Shared by Crohn’s Disease and Celiac Disease

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-7949" title="two_kits" src="https://blog-api.23andme.com/wp-content/uploads/2010/11/two_kits-293x300.png" alt="" width="293" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/11/two_kits-293x300.png 293w, https://blogcms.23andme.com/wp-content/uploads/2010/11/two_kits.png 399w" sizes="auto, (max-width: 293px) 100vw, 293px" />
When we announced the release of our newest genotyping platform and offered an extended holiday sale last year, people who had been waiting for an affordable opportunity to get a glimpse of their genomes jumped at the chance.
Existing customers also acted on the news, signing up friends and family and even purchasing upgrades for themselves. As we mentioned in an earlier <a href="https://www.23andme.com/about/press/20101124/">press release</a>, the latest genotyping platform (&#8220;V3&#8221;) provides customers with data on nearly one million SNPs, compared to about 600,000 on the previous version (&#8220;V2&#8221;).
The process of upgrading platforms also provided us with additional data about SNPs on V2 that enabled us to improve our genotype calling algorithms for many SNPs systematically across both platforms, in addition to the algorithmic improvements we make routinely throughout the year.
As an existing customer on V2, you may be wondering whether you should upgrade, and what to expect if you do. 
Keep in mind that unless you&#8217;re interested in sifting through the raw data, you might not gain that much from upgrading right away. The real value of V3 will come over time as 23andMe researchers pull together information from the scientific literature to provide meaningful connections between specific SNPs and health conditions, and improve algorithms for ancestry analyses. When and if you upgrade is a decision you should evaluate for yourself after seeing the information for V3 accumulate.
Some who have already upgraded, however, may notice specific differences between V2 and V3 on top of the sheer number of SNPs.
Although a major consideration for V3 was backwards compatibility, about 30,000 SNPs that were available on V2 are not available on V3 simply because the SNPs did not successfully make it through the manufacturing process (this is expected for large genotyping platforms).
There is also a small subset of SNPs that will require manual adjustment before the data can be reported reliably back to customers, including SNPs specific to the Y chromosome and mitochondrial DNA, as well as several SNPs used to calculate results for the ABO Blood Type Health Lab. The majority of these cases should be addressed in the next few weeks.
Other differences, all very slight, that customers upgraded to V3 may notice are addressed in this community post (you must be logged into your account to view).
These include small changes to percentages in Ancestry Painting, Relative Finder, and Family Inheritance, as well as minor changes to specific haplogroup assignments.
Customers can expect to have the following approximate numbers of SNPs for their genotyping platform:
V2 only: 576,000 SNPs
V3 only: 967,000 SNPs
V2 + V3 (upgraded): 996,000 SNPs
The number and exact set of SNPs for which you have genotype data &#8212; as opposed to a &#8220;no call&#8221; result &#8212; will differ from these numbers and vary from person to person due to data quality control measures. V2 customers who upgrade to V3 will have &#8220;no calls&#8221; from their V2 results filled in by V3 data if the SNP is present on V3 and their V3 result for it passed quality control.
The raw data files for the two genotyping platforms will also be merged to provide a single raw data file.
We are excited to welcome the thousands of new 23andMe members who have just received their data and are beginning to explore the features of the service. We look forward to keeping everyone up to date on the latest research connecting genetics to your health and ancestry!
Customers genotyped on previous versions of the platform can learn more about upgrading here. Note that upgrades require a subscription to the Personal Genome Service.
For specific questions about your account or about the service, please contact <a href="mailto:help@23andme.com">help@23andme.com</a>.

Upgrading to the New Chip? What to Expect.

Leading Personal Genomics Company Engages the Worldwide Sarcoma Community for Research and Welcomes Leading Sarcoma Researchers and Clinicians as Advisors
<img loading="lazy" decoding="async" class="alignright size-full wp-image-6398" title="sarcoma-large" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg" alt="" width="315" height="257" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg 315w, https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
23andMe’s sarcoma research efforts are well underway with collection of both phenotypic and genetic data from 500 individuals diagnosed with sarcoma already completed. The company is half way towards its goal of building a sarcoma research community of more than 1,000 individuals. 23andMe has also completed its Independent Sarcoma Scientific Advisory Committee with the appointment of leading researchers and clinicians, including Robert Maki, MD, PhD, George Demetri, MD, Judy Garber, MD, MPH, and Mark Robson, MD.
“Members of our independent, external Sarcoma Advisory Committee bring unsurpassed expertise of sarcoma and cancer genetics to our research efforts,” said Anne Wojcicki, 23andMe co-founder and CEO. “We are confident that together, we will meaningfully advance our current understanding of sarcomas.”
Sarcomas are a rare group of cancers that arise in connective tissues (such as muscle, fat, cartilage, tendons and blood vessels) or in bone. It is estimated that there are approximately 13,000 cases of Sarcoma seen annually in the United States. This is an extremely small number compared to the total of more than 1.4 million people who are diagnosed with cancer each year in the United States. The small number of cases seen, the diversity in the biology of each type of sarcoma, and other variables make identifying and understanding causes of Sarcomas particularly difficult.
23andMe’s Sarcoma research efforts first began in April 2010, inviting current and former sarcoma patients to participate by being genotyped and completing surveys about their disease and treatment response through the 23andMe web-based research platform, under approval from an Institutional Review Board (IRB). Participants receive access to the full 23andMe experience, including information about their genetic ancestry as well as access to all 184 health and trait reports at no charge.
As 23andMe collects information regarding these individuals’ experience, environment and response to different therapies, it is anticipated that 23andMe will be able to combine this information with genetic data to find patterns that will help researchers better understand the biology of sarcoma and the impact of various treatments.
&#8220;We have already enrolled more than 500 individuals diagnosed with Sarcoma, passing the 50-percent milestone in our goal of building a sarcoma community of at least 1,000 individuals. Through our research platform, we are gathering valuable information about sarcoma and response to treatment from these individuals,” explained Amy Kiefer, 23andMe, Survey Research Manager, PhD.
“This collaborative project is highly innovative, linking sophisticated genomic analyses with patient-reported outcomes and clinical data in people who have had sarcoma at some point in their lives. It is a novel, multidimensional approach to understanding these complex diseases with a mixture of science, medicine and social media,” said George Demetri, MD, Director of the Center for Sarcoma and Bone Oncology at Dana Farber Cancer Institute and Sarcoma Scientific Advisor to 23andMe. “The members of the Sarcoma Scientific Advisory Committee are enthusiastic to advise 23andme to ensure the highest quality data can be generated through this interactive process which brings together current sarcoma patients, long-term survivors of sarcomas, physicians and scientists of several different specialties.“
For more information, or to inquire about joining 23andMe’s Sarcoma community please go to <a href="https://www.23andme.com/sarcoma">https://www.23andme.com/sarcoma</a>.
About 23andMe’s Sarcoma Scientific Advisory Committee
The committee is comprised of independent, external academic advisors, including:
Robert Maki, MD, PhD, is a renowned Sarcoma clinician and researcher. Already a 23andMe advisor, Dr. Maki recently joined The Mount Sinai Medical Center as the Chief of the Pediatric Hematology/Oncology Division, and is also Medical Director of the Sarcoma Cancer Program at The Tisch Cancer Institute.
George D. Demetri, MD, has led the development of several practice-changing clinical research trials for sarcoma and serves as the Director of the Center for Sarcoma and Bone Oncology at Dana Farber Cancer Institute, as well as Director of the Ludwig Center at Dana-Farber/Harvard Cancer Center, and Senior Vice President for Experimental Therapeutics at Dana-Farber Cancer Institute in Boston.
Judy E. Garber, MD, MPH, is the Director of the Center for Cancer Genetics and Prevention at Dana-Farber Cancer Institute and an associate professor of Medicine at Harvard Medical School.
Mark E. Robson, MD, is the Associate Attending Physician of the Clinical Genetics and Breast Cancer Medicine Services at Memorial Sloan-Kettering Cancer Center.
View the official <a href="https://www.23andme.com/about/press/20110125/">press release</a>.

23andMe Achieves Milestone in Building Sarcoma Research Community

<img loading="lazy" decoding="async" class="alignright size-full wp-image-7636" title="PMWC-logo" src="https://blog-api.23andme.com/wp-content/uploads/2010/10/PMWC-logo.png" alt="" width="333" height="125" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/10/PMWC-logo.png 333w, https://blogcms.23andme.com/wp-content/uploads/2010/10/PMWC-logo-300x113.png 300w" sizes="auto, (max-width: 333px) 100vw, 333px" />
More than 800 people packed the auditorium in Silicon Valley’s Computer History Museum for two days this week listening to the impassioned words of the greatest thinkers, movers, and shakers in personalized medicine. It’s a topic that’s easy to get behind &#8212; who doesn’t think that medical care tailored to the individual will result in better care for that individual? &#8212; but it’s been a long, hard road, and not for lack of effort. Making personalized medicine the standard of care will require investment and cooperation from healthcare providers, technology innovators, researchers, policy makers, regulatory agencies, entrepreneurs &#8212; and each of us, healthy and otherwise. The <a href="http://www.pmwc2011.com">2011 Personalized Medicine World Conference</a> certainly played its part, bringing people together from all of these areas for important, eye-opening discussions. 
 
From sessions covering cancer, new business models, regulatory issues, and personal wellness to expert panels looking broadly towards the future of personalized medicine, the conference had a little something for everyone. Some common threads emerged, however: the falling cost of sequencing and other technologies, the rising need for interpretation and tools, and the unsettling disconnect between resources spent on healthcare (or innovation) in the U.S. and treatment outcomes. The vision for personalized medicine is, as <a href="http://www.pmwc2011.com/speakers.php#snyderman">Ralph Snyder</a> of Duke University explained in his opening keynote, &#8220;science serving humanity, one person at a time,&#8221; but we&#8217;re not quite there yet. &nbsp;<a href="http://www.pmwc2011.com/speakers.php#scott">Randy Scott</a> of Genomic Health put the inefficiency of current healthcare systems in stark relief when he said, “we spend billions of dollars every year treating diseases we don’t understand &#8212; poorly.”
<a href="http://www.pmwc2011.com/speakers.php#aspinall">Mara Aspinall</a>, CEO of On-Q-ity, laid down another heavy statistic: drugs work only 50% of the time, and for cancer they only work 22% of the time. This waste has a dollar cost, she continued, but more importantly, a human cost. The field has its skeptics, too, but as <a href="http://www.pmwc2011.com/speakers.php#church">George Church</a> pointed out, the emerging personalized medicine industry won’t be perfect; rather, it will improve iteratively, just like the first televisions, cars, and computers. Church draws additional parallels between personalized medicine and computers, noting that the computing industry didn’t anticipate the power of personal computing &#8212; will personal genomics be similarly underestimated?
Speaking more practically, <a href="http://www.pmwc2011.com/speakers.php#hudson">Kathy Hudson</a> (NIH) put forth the idea of “pilot clinics” that would serve as the testing grounds for new systems and technologies in personalized medicine and pioneer the new standards of care. Lee Hood [http://www.pmwc2011.com/speakers.php#hood], the champion of “P4 medicine” (Predictive, Preventative, Personalized, and Participatory), stressed the need for improved communication, IT infrastructure, and education for both patients and physicians. Attendees also heard arguments for employer-centric as well as payer-centric models of personalized medicine adoption from Vance Vanier, CEO of Navigenics, and <a href="http://www.pmwc2011.com/speakers.php#leisure">Larry Leisure</a> of AccelusHealth Partners.
So after all this, what will be the future of personalized medicine? The most popular panel of the conference posed exactly this question to several giants in the field. Lee Hood painted a future where every individual produces billions of data points over time for the purposes of “wellness” monitoring. George Church took this one step further, saying that everyone would be sequenced (there’s a billion data points right there!) and we’d all have personalized health regimens from birth. For <a href="http://www.pmwc2011.com/speakers.php#byers">Brook Byers</a>, the future is all about networks, from microscopic biological networks affecting disease to social networks affecting healthcare. And in the 2020 that Kathy Hudson envisions, we will all be participating in research, we will all be excited about it, and we will all know what that research means.
As our very own <a href="http://www.pmwc2011.com/speakers.php#wojcicki">Anne Wocjicki</a> noted in her talk Tuesday afternoon, only 5% of people have ever participated in a research study or clinical trial, but every single one of us is an interesting data point and a potential contributor to important scientific discoveries. With 23andMe’s commitment to genetic research and our unique <a href="https://www.23andme.com/research">participant-driven research platform</a>, we hope you’ll agree that, together, we can make that exciting and not-so-distant future happen.
Many thanks to all of the organizers, sponsors, speakers, exhibitors, and attendees for making PMWC 2011 a great success!
Visit the PMWC 2011 website to see the entire conference <a href="http://www.pmwc2011.com/program.php">program</a> and <a href="http://www.pmwc2011.com/speakers.php">list of speakers</a>. To read more about the talks and discussions from PMWC 2011, check out this collection of thoughts on <a href="https://twitter.com/#!/search/pmwc">Twitter</a>.

PMWC 2011 Delivers on Personalized Medicine

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<td><img decoding="async" class="alignright size-full wp-image-8316" title="hyperextension" src="https://blog-api.23andme.com/wp-content/uploads/2011/01/hyperextension.gif" alt="" height="60" /></td>
<td><img decoding="async" class="alignright size-full wp-image-7844" title="cartoon-baldness" src="https://blog-api.23andme.com/wp-content/uploads/2010/11/cartoon-baldness.png" alt="" height="60" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/11/cartoon-baldness.png 443w, https://blogcms.23andme.com/wp-content/uploads/2010/11/cartoon-baldness-300x272.png 300w" sizes="(max-width: 443px) 100vw, 443px" /></td>
<td><img loading="lazy" decoding="async" class="alignright size-full wp-image-8317" title="handedness" src="https://blog-api.23andme.com/wp-content/uploads/2011/01/handedness.png" alt="" width="60" height="60" /></td>
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Do you have your father&#8217;s eyes or your mother&#8217;s curly hair?
Do you have trouble drinking milk, or flush when you drink alcohol?
Many traits such as eye color, alcohol flush, and the texture of your hair are determined&#8212;at least in part&#8212;by genetics. Learning about them also helps make genetics more real. We can observe many traits directly, compare them between people, and see how some of them are passed down through families.
But traits aren&#8217;t limited to things you can see. They include whether you can smell certain odors, the levels of hormones or other molecules circulating in your body, and even whether you&#8217;re more resistant or susceptible to infectious microbes. The circus of human traits can be wide, weird&#8212;and wildly wonderful.
With 23andMe&#8217;s Trait reports, you can get a glimpse into more than 40 different human traits influenced by genetic factors. While you can &#8220;verify&#8221; certain things about yourself using these reports, it&#8217;s important to keep in mind that genetics is rarely the whole story. Your environment, lifestyle, and personal and family history can play a major role in what foods you like, your cholesterol level, whether you contract an infectious disease, and how tall you are, to name just a few things.
So what do my genetics say about some of my traits?
<img decoding="async" class="alignright size-large wp-image-17348" style="border: 1px solid #ccc;" title="traits-list" src="https://blog-api.23andme.com/wp-content/uploads/2011/01/traits-list-700x596.png" alt="" width="500" />
As I mentioned in the previous post about Drug Response, I do flush when I drink alcohol. This is because I have one copy of a variant that disrupts a gene called ALDH2, which is involved in breaking down a toxic byproduct of alcohol.
The disruptive variant is fairly common in East Asians, so it&#8217;s not surprising that I have it. My dad also has this variant and displays the alcohol flush trait, but my mom has two working copies of the gene. As luck would have it, my two brothers won the genetic lottery on that one&#8212;they got working copies from both parents!
Another trait that displays population-specific differences is Earwax Type. Most people don&#8217;t even know there are different types of earwax, but our ancestors probably all had wet earwax, and dry earwax arose later in northeast Asia, most likely due to a single variant in a gene called ABCC11. If you&#8217;re East Asian like I am, your earwax is probably the dry type (check!), but if you&#8217;re not, you probably have wet earwax.
Not all traits are determined by single genes like Alcohol Flush and Earwax Type. Many, like Eye Color and Hair Curl, are influenced by a number of genes, and 23andMe&#8217;s Trait reports may only provide information on a subset of them.
Other traits can be affected by non-genetic factors; <a href="https://www.23andme.com/health/Lactose-Intolerance/">Lactose Intolerance</a>, for example, can be partly or effectively compensated for by the types of bacteria you have in your gut (indeed, this is probably what&#8217;s happened in my case, for I used to be less tolerant of dairy products than I am now).
For these reasons, the results suggested by the reports may sometimes differ from your personal experience.
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-8321" style="margin-right: 10px; margin-bottom: 5px;" title="eyecolor-table" src="https://blog-api.23andme.com/wp-content/uploads/2011/01/eyecolor-table.png" alt="" width="369" height="238" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/01/eyecolor-table.png 461w, https://blogcms.23andme.com/wp-content/uploads/2011/01/eyecolor-table-300x194.png 300w" sizes="auto, (max-width: 369px) 100vw, 369px" />
A common example of this comes up with the Eye Color trait&#8212;the report may say &#8220;Likely Blue&#8221; but you might actually have brown eyes, or vice versa. The discrepancy stems from the fact that the genetic variant presented in the report is not the only variant that determines eye color. It does, however, give pretty good estimates: if you have two copies of the A version of the SNP (like I do), you have an 85% chance of having brown eyes and a 14% chance of having green eyes; if you have two copies of the G version, you have a 72% chance of having blue eyes and a 27% chance of green eyes.
One copy each of A and G gives you an intermediate probabilities of brown, green, or blue eyes. So while the report may say that you are likely to have brown, or blue, eyes, there is still a chance that you don&#8217;t! As more research uncovers additional variants that influence eye color, we may be able to update the report to improve the predictions.
All of our reports offer the curious individual an opportunity to learn more about the genetics&#8212;and non-genetic factors&#8212;underlying human health and traits, from the everyday to the bizarre. You might be amazed to discover that some people can smell a specific odor in their urine after eating <a href="https://www.23andme.com/health/asparagus-metabolite-detection/">asparagus</a> (or can&#8217;t smell it!) or that others <a href="https://www.23andme.com/health/photic-sneeze-reflex/">sneeze</a> whenever they go out into bright sunlight, a condition charmingly referred to as &#8220;ACHOO syndrome.&#8221; Or perhaps you&#8217;re more interested in learning about how your genetic variants might influence how you <a href="https://www.23andme.com/health/response-diet-exercise/">respond to different diets or exercise</a>. With traits, there&#8217;s always something for everyone!
<div>Curious about possible traits for your child? Or wonder what your chances were of having green eyes? Customers can use the <a href="https://www.23andme.com/you/inheritance/">Inheritance Calculator tool</a> to see offsprings’ probability for 6 common traits using different combinations of “parents.” (Note, you must be sharing genomes with someone to select him or her as a “parent” in Inheritance Calculator.)</div>
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Have some unique or favorite traits of your own? Customers can help contribute to <a href="https://www.23andme.com/research/">research</a> on the genetics of dozens of human traits by taking <a href="https://www.23andme.com/you/23andwe/surveys/">surveys</a> about footedness, handedness, physical features, and pigmentation, among others.
<div style="margin-top: 15px; margin-bottom: 15px; padding: 10px; border: 1px solid #ccc; background-color: #ffc;">More Health at 23andMe posts: 
 
<a href="https://blog.23andme.com/23andme-and-you/genetics-101/health-at-23andme-what-can-you-learn/" target="_self" rel="noopener noreferrer">Health at 23andMe: What Can You Learn?</a>(Carrier status for Inherited Conditions)When One Size Doesn&#8217;t Fit All &#8211; (the genetics of Drug Response)
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For a refresher course on genetics or help navigating the service, visit  <a href="https://www.23andme.com/gen101/genes/">Genetics 101</a> on our website, or see our  Frequently Asked Questions.
Check out our companion series,  <a href="https://blog.23andme.com/2010/09/16/ancestry-at-23andme-what-can-you-learn/">Ancestry at 23andMe</a>, and other articles in  <a href="https://blog.23andme.com/category/23andme-how-to/">23andMe How-To</a>.

Latest Posts — Page 169