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From your toenails to your hair follicles, every cell in your body contains genetic information.
Furthermore, each cell (except sperm and egg cells) contains the same genetic information as every other cell in your body. This all-cells-are-created-equal premise, however, is an oversimplification of reality.
Last week a group of researchers, headed by Dr. Faulkner from the University of Edinburgh, <a href="https://www.ncbi.nlm.nih.gov/pubmed/22037309" target="_blank" rel="noopener">showed</a> that the DNA in some brain cells is different from the DNA in other cells due to a genetic phenomenon known as retrotransposons.
Retrotransposons are small bits of genetic information that can move around and multiply themselves in the genome via RNA (a molecule similar to DNA). Imagine the DNA in your cells as a long sentence and retrotransposons as words in this sentence that can be copied and pasted to create new sentences. Suddenly, the genetic equivalent of “The rain in Spain stays mainly on the plain” becomes “Mainly the rain in Spain stays mainly on the plain” with the word “mainly” acting as a retrotransposon. Such extra copies of genetic information are common; approximately half of a person’s genetic code consists of retrotransposons. Sometimes the resulting new genetic sequence is functionally intact, as in the new sentence above. In other cases, however, the changes lead to genetic sequences that are less functional, the genetic equivalent of “The mainly rain in Spain stays mainly in the plain.”
Normally, biological mechanisms prevent retrotransposons from wreaking havoc on the DNA in our tissues — their activity is mainly confined to DNA in sperm and egg cells — but Dr. Faulkner’s team observed that retrotransposons are actively modifying the genetic code in our brain cells. This suggests that the genetic information in our brains changes during a person’s life and brain cells can become genetically different from one another, as well as from other cells in the body. While not a completely novel finding, their study presents some of the most extensive and convincing evidence so far of retrotransposon activity in the brain.
Faulkner’s team went further, however, and was able to identify where — both in the DNA and in the brain — retrotransposons were most active. They found that retrotransposons do not insert randomly within a cell’s genome, but rather they insert into the sections of DNA that encode for proteins more often than you’d expect by chance. One type of retrotransposon (L1 retrotransposons) seemed to be particularly active in and near genes associated with tumor suppression and neuron development, and in the regions of the brain associated with learning and memory.
This new study provides more evidence that retrotransposons play significant roles in human tissues and presents novel insights into their potential biological effects. More research is needed to determine what impact retrotransposons have on normal thinking and memory functions, as well as disease. Nevertheless, it appears that our genetic code, at least in the brain, is less static and uniform than previously believed.

23andMe Blog

23andMe Blog Team

This is Your Brain on Retrotransposons

<img loading="lazy" decoding="async" class="aligncenter wp-image-10321 size-full" src="http://35.88.189.111/wp-content/uploads/2011/11/mosquitona.jpg" alt="" width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/11/mosquitona.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2011/11/mosquitona-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
We all know that mosquitoes can be annoying.  In many parts of the world, however, mosquitoes are more than just annoying&#8211;they are killers.  Most people have heard of the mosquito-transmitted disease malaria, which has recently received much publicity through the work of The Bill &amp; Melinda Gates Foundation and other non-profits. Dengue fever is another mosquito-borne disease, and although dengue receives less media attention than malaria, it nevertheless affects 50 million people each year.
Dengue has the greatest impact on those living in the tropics and sub-tropics, where the A. aegypti mosquito–the primary vector of the virus–can thrive. This, however, does not mean that those living elsewhere are unaffected; cases have been reported in southern Texas and Florida.
One of the active areas of research in dengue is investigating the huge variety of responses people can have to the virus. Many infected individuals have no symptoms, while others have mild flu-like symptoms; still others suffer life-threatening complications.  One of these life-threatening complications is dengue shock syndrome (DSS), resulting from leaky blood vessels.  Less than one percent of exposed individuals develop DSS, and whether one develops it depends on many factors, both genetic and non-genetic.
This month, a research team led by Chiea Khor from the Genome Institute of Singapore published in <a href="https://www.nature.com/ng/index.html" target="_blank" rel="noopener noreferrer">Nature Genetics</a> a genome-wide association <a href="https://www.ncbi.nlm.nih.gov/pubmed/22001756" target="_blank" rel="noopener noreferrer">study</a> on susceptibility to dengue shock syndrome after exposure to the dengue virus. They compared 3,855 Vietnamese children with DSS to 4,952 samples from the general Vietnamese population. Khor’s team found several genetic variants associated with DSS susceptibility located near the MICB gene on chromosome 6 and the PLCE1 gene on chromosome 10.
The MICB gene lies in a region of the genome known as the major histocompatibility complex (MHC), which contains many genes involved in the immune system.The PLCE1 gene, on the other hand, has also been associated with a kidney disease called nephrotic syndrome that has some symptoms similar to DSS’s symptoms.
This research shows that the development of dengue shock syndrome depends in part on individual genetics. In addition, the parallels between PLCE1 and nephrotic syndrome suggests common biological pathways may be involved in both diseases. Although more studies are needed to further confirm these discoveries, this paper presents exciting findings for the dengue research community.

Taking Stock of Dengue Shock

You are unique, but sometimes, when you see your doctor, you don’t feel you’re being treated that way.
The promise of personalized medicine is that what makes you, you can also be used to tailor the health care plan that is most effective for you.
<div id="attachment_10290" style="width: 208px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-10290" class="wp-image-10290 size-medium" title="#2snyderman" src="http://35.88.189.111/wp-content/uploads/2011/11/2snyderman-198x300.jpg" alt="A photo of Dr. Ralph Synderman" width="198" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/11/2snyderman-198x300.jpg 198w, https://blogcms.23andme.com/wp-content/uploads/2011/11/2snyderman.jpg 396w" sizes="auto, (max-width: 198px) 100vw, 198px" />Dr. Ralph Snyderman</div>
Dr. Ralph Snyderman This is already happening partly because of the work of people like Dr. Ralph Snyderman, chancellor emeritus at Duke University, and  James B. Duke, Professor of Medicine. Snyderman will speak early next year at the <a href="http://pmwc2012.com/index.php">Personalized Medicine World Conference 2012</a> about bringing this approach into the clinic.
“As far as I’m concerned, the patient must be at the center of effective personalized medicine and prospective care,” he said.
<h2>Prospective Health Care</h2>
The former Dean of Duke’s medical school and Chancellor for Health Affairs, Snyderman started talking about personalized and “prospective” health care more than a decade ago.   At the time, he predicted that medicine would move away from traditional reactive methods for treating disease. Instead, doctors would start using personalized data and health care planning to provide a more preventive, targeted, and individualized approach to health care.
It’s taken some time, but Snyderman can point to several areas where this approach has taken root.
“A major basis of optimism in the war against cancer relates to the development of personalized approaches to each patient’s specific disease,” said Snyderman in a recent interview with The Blog.
<h2>Breast Cancer Example</h2>
In the case of breast cancer, for instance, genetic tests and other kinds of tests can help determine who will benefit from certain types of drugs and who might suffer serious side effects. Analysis of the cancer itself can also decide on its molecular characteristics and what drugs should be used to attack it most effectively. Essentially, this approach is about getting the right drug to the right patient.
“Companion diagnostics used to identify the appropriate patients for targeted treatments are already being practiced to great success,” Snyderman said.
Between 20-and-30 percent of breast cancers are more aggressive because they overexpress a protein called human Eepidermal growth factor receptor 2 or HER2/neu. Tumors with an overexpression of HER2 tend to reoccur more often and have much worse outcomes. But by using biomarkers, genetic and other tests to identify these patients, drugs like Herceptin ® or <a href="http://www.tykerb.com/">Tykerb</a> ®   can suppress the expression of HER2 and improve outcomes.   (Dr. Snyderman previously worked for Genentech as a senior vice president for Medical Research and Development and helped put Herceptin ® into preclinical development.)
<h2>Other Examples</h2>
Snyderman points to other examples, including the targeted use of the drug <a href="http://www.gleevec.com/">Gleevec</a> ®, a kinase inhibitor used to treat chronic myelogenous leukemia, a cancer in white blood cells. In certain acute cases, the mortality rate had been 80 percent, but with the targeted use of the drug treatment, as many as 90 percent of patients go into remission, Snyderman said.
Beyond these targeted drug therapies, molecular diagnostics can now be used as predictive tools.
&#8220;<a href="http://www.allomap.com/">Allomap</a> ®, which is based on gene expression testing, can help in predicting outcomes for heart transplants and avoid needless heart biopsies,” Snyderman said.
Disease Drive Event
While these were just a few of the many good examples of what he sees as models for personalized medicine in practice now, Snyderman said there are still many obstacles to transforming the system. One is the culture of traditional medicine, where care is disease-driven event.
Then there are the problems with how we pay for health care. The current fee-for-service model rewards expensive interventions instead of healthy outcomes.   Finally, patients not only need to be invited into the conversation, they also have to be willing to engage.
“The first thing we need is to have consumers involved and engaged in their own health,” Snyderman said.
In part, that’s what he likes about 23andMe.
“Just the fact that consumers might approach some type of technology that gets them thinking about their health is a good thing.”

The Power of Predictive Care

Giving people access to their genetic information is what we are about at 23andMe. We believe that it is not just a fundamental right, but, as with access to all of your health records, it is vital to making informed decisions about your wellbeing.
<img loading="lazy" decoding="async" class="alignright wp-image-6586 size-full" title="23andMe_Logo_blog" src="http://35.88.189.111/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="An image of 23andMe's logo" width="350" height="349" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w" sizes="auto, (max-width: 350px) 100vw, 350px" />
<h6>Healthcare Information</h6>
That is why 23andMe is so encouraged by statements coming from Kathleen Sebelius, Secretary of the U.S. Department of Health and Human Service.
In September, Secretary Sebelius <a href="http://www.gpo.gov/fdsys/pkg/FR-2011-09-14/html/2011-23525.htm">proposed a regulation </a> to give patients direct access to their clinical laboratory results. This is in addition to current rules that give patients the right to obtain those records from their health care providers.
&#8220;When it comes to healthcare, information is power,” Sebelius said back in September. “When patients have their lab results, they are more likely to ask the right questions, make better decisions and receive better care.&#8221;
<h6>Your Comments Matter</h6>
We could not have said it better. But just because Secretary Sebelius is supporting the change does not mean it will happen.
Your comments may help make a difference between whether you get the right to easily access your laboratory records or not. We want to encourage you to make your voice heard.
Many people may not know that they currently have the right to access their medical records under the Health Insurance Portability and Accountability Act of 1996 (HIPAA). The proposed regulation would expand the rights of patients to access their health information directly &#8212; and likely more quickly &#8212; by removing regulatory barriers to the electronic exchange of clinical laboratory data.
<h6>Access</h6>
For a company like 23andMe, which was founded on a philosophy that individuals have the right to access directly their genetic information, clearing away these kinds of barriers more widely is extremely important.
“As a company committed to advancing personalized medicine, 23andMe could not agree more with the sentiments expressed by Secretary Sebelius,” said Ashley C. Gould, Vice President of Corporate Development &amp; Chief Legal Officer.   “We believe the proposed changes will facilitate personalized medicine by empowering individuals to take an active role in understanding their own health and healthcare. 23andMe was founded, in part, to provide people with direct access to their health information and foster this empowerment.”
23andMe now has years of experience giving individuals access to their genetic information and we have received strong, positive feedback from our customers.  We have found that the concerns raised by critics of this open approach have not materialized.
<h6>Engaging in Your Care</h6>
In addition, while we send each individual’s genetic data directly to them, we encourage our customers to discuss their data with their physicians or other healthcare providers. We have found that genetic information often serves as a catalyst for useful conversations between our customers and their healthcare providers. We believe that giving people access to their clinical laboratory tests will trigger more engagement by patients and better dialogue between patients and their healthcare providers.
<div style="float: right; width: 300px; background-color: #eeeeee; padding: 15px; margin-left: 10px;">
SAMPLE COMMENT LETTER
Centers for Medicare and Medicaid Services 
Department of Health and Human Services 
Attention: CMS-2319-P 
PO Box 8010 
Baltimore, MD 21244-8010
RE: Access to Clinical Laboratory Test Reports
To Whom it May Concern,
I am writing in support of the proposed rule to expand the rights of individuals to obtain their health information by giving them direct access to their clinical laboratory test results (Proposed Rule CMS-2319-P.)
[Please share your thoughts as to why this might be an important step for individuals and how it might help you and others, even though it might impose additional costs on clinical laboratories.   You might wish to address the issue of access to health records or how the move toward patient centered care requires that patients have access to their own health information.] 
Sincerely,
[Your name]
</div>
The proposed regulation simply amends the current quality standards that are part of the  <a href="https://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/IVDRegulatoryAssistance/ucm124105.htm">Clinical Laboratory Improvement Amendments of 1988</a> – known as CLIA. The change specifies that, upon a patient&#8217;s request, the laboratory must provide access to completed test reports. The laboratory would use its existing authentication process to ensure the results belong to the patient before they were sent.
<h6>Proposed Regulation</h6>
This proposed regulation would also amend the Privacy Rule that’s part of HIPAA. Currently, the Privacy Rule exempts CLIA laboratories from the obligation to provide an individual with access to his or her own health information.
Public comments are still being taken on the proposed regulatory changes.   23andMe is submitting comments in favor of the proposed regulation and we encourage you to show your support by taking the time to comment as well. Your input does make a difference &#8212; the more comments people submit, the more likely it will be that these rules become reality.
Send your comments no later than 5 pm Eastern Standard Time on November 14th, 2011. To let your voice be heard go <a href="http://www.regulations.gov/#!submitComment;D=CMS-2011-0145-0001" target="_blank" rel="noopener">here</a>. You can type or paste in comments on the form or upload comments to the site. You can also access both the proposed regulation and the comments page by going to <a href="http://www.regulations.gov/">www.regulations.gov</a> and searching using the regulation number, CMS–2319–P.
You may also submit your comment using regular mail by sending a letter to: Centers for Medicare &amp; Medicaid Services, Department of Health and Human Services, Attention: Proposed Rule CMS-2319-P, P.O. Box 8010,   Baltimore, MD 21244-8010.

Your Right to Access Your Clinical Lab Results

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In just three months, 23andMe’s <a href="https://www.23andme.com/mpn">Myeloproliferative Neoplasms (MPN) Research Initiative</a> has grown to more than 330 active participants. Our Scientific Advisory Board has grown as well with another prestigious scientist, Dr. Ruben Mesa, joining Dr. Jason Gotlib and Dr. James Zehnder from the Stanford University School of Medicine and Stanford Cancer Institute.
Dr. Mesa serves as Director of the Acute and Chronic Leukemia Program and as Chair of the Division of Hematology &amp; Medical Oncology at the Mayo Clinic.  In addition to his work at the Mayo Clinic, Dr. Mesa is also Vice Chair of the Myeloproliferative Disorders Research Consortium based in New York. His work focuses on advancing the understanding and therapy of the chronic forms of these kinds of cancers. We are extremely excited to welcome Dr. Mesa to our MPN Scientific Advisory Board.
To read more about this announcement, please <a href="https://www.23andme.com/about/press/mpn_advisor_mesa">click here for the press release</a>.
Collaboration is the best way to offer hope and a future to individuals affected by rare cancers such as MPN. We look forward to working with our participants and our advisors* to see what type of research advancements we can achieve together.
Learn more at  <a href="https://www.23andme.com/mpn">www.23andme.com/mpn</a>.
*MPN Science Advisory Board members receive no compensation from 23andMe.

23andMe’s MPN Initiative Welcomes Dr. Ruben Mesa as Scientific Advisor

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<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-9941" style="margin-bottom: 10px;" title="exome_banner" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/exome_banner-300x151.png" alt="" width="300" height="151" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/exome_banner-300x151.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/exome_banner.png 419w" sizes="auto, (max-width: 300px) 100vw, 300px" /> 
Congratulations to Diana Cousminer, the winner of our Exome Giveaway!*
Hailing from Finland, Diana is extremely excited to be one of the first people to have her exome sequenced. &#8220;I felt like a huge geek because no one at home understood what I had won or why I was so fired up until I explained what an &#8216;exome&#8217; is,&#8221; she told us.
As a self-proclaimed skeptic, Diana is also curious to see what kind of genetic information is available directly to consumers, given what she knows is the early and evolving nature of the science of genetics as it pertains to human health and disease. &nbsp;She says that while she&#8217;s &#8220;not sure if this information will change my life&#8230; it will definitely be a lot of fun to explore my own genome as someone who works with other people&#8217;s DNA for a living.&#8221; Diana is studying for her Ph.D. in human genomics at the University of Helsinki.
*The original winner declined the prize. Diana&#8217;s name was randomly drawn from the remaining entries.
</div>
Ever since Kevin Davies popularized the phrase &#8220;<a href="https://www.amazon.com/gp/product/B004KAB370/ref=pd_lpo_k2_dp_sr_1?pf_rd_p=486539851&amp;pf_rd_s=lpo-top-stripe-1&amp;pf_rd_t=201&amp;pf_rd_i=1416569596&amp;pf_rd_m=ATVPDKIKX0DER&amp;pf_rd_r=0290JGAYWQ3A4JNXWP80" target="_blank" rel="noopener noreferrer">the $1000 genome</a>&#8220;, the vision of whole genomes at the corner store has alternately inspired and unsettled onlookers. Well, we&#8217;re not quite at the point where getting your genome sequenced costs less than buying a smartphone, but sequencing is definitely still rising in popularity.
Nowhere was this more evident than at the 12th International Congress of Human Genetics (ICHG) held three weeks ago in Montreal, which brought together more than 6,000 geneticists, clinicians, bioinformaticists, educators, genetic counselors, technology vendors, and journalists. The opening debate (which was moderated by Davies) set the scene: &#8220;Whole Genome Sequencing: To Do It Or Not To Do It?&#8221;
The next four days were a whirlwind of presentations, tutorials, panel debates, and posters, about a thousand of which involved sequencing. Everywhere you looked, scientists were using sequencing to look for genetic variants associated with health conditions, to diagnose rare diseases, to analyze ancestral patterns in populations across the globe, and to study the evolution of human traits.
But the excitement over the potential of sequencing that characterized 2010&#8217;s American Society of Human Genetics (ASHG) meeting had also matured into a more balanced perspective one year on. Many sequencing projects are still in the early phases, and initial reports carried a similar theme: large studies (i.e. involving thousands of research participants) are still generally necessary to produce quality results.
For individuals, however, sequencing may provide more immediate benefits. While not everyone agrees on whether sequencing should be incorporated into general clinical care, its value in cases of rare, undiagnosed diseases seems clear.
Though the buzz may seem otherwise, human genetics isn&#8217;t all about sequencing, and our 11 scientists in attendance were able to soak in quite a bit of other areas of human genetics (and a bit of Montreal) in the sometimes overwhelming ICHG schedule. Some of the interesting things we learned:
<ul>
<li>A British research group found that there are enough genetic differences between people living in the United Kingdom that statistical methods can distinctly cluster individuals living in neighboring towns based on their genetics.</li>
<li>Looking at just six medications at one hospital, preemptively genotyping for variants related to drug response could have prevented more than 400 adverse events and improved drug dosing for 500 patients.</li>
<li>The President of ASHG, Lynn Jorde, has been genotyped by 23andMe and he shared some of his results as part of his presidential address on genetics education.</li>
<li>Several presentations surveyed or compared people&#8217;s attitudes towards research participants receiving data back from studies. In general, participants wanted access to their data and wanted the freedom to decide what data they should get back, while genetic counselors and clinicians felt that genetics or medical experts should decide what data participants get back. Getting access to this data was also a strong motivating factor for participating in research, on par with financial compensation and effort required to participate. Most people were especially interested in receiving actionable data for common conditions.</li>
<li>The prevailing scientific explanation for why ABO blood groups appear in humans as well as other primates is that they arose multiple times throughout evolutionary history. New research challenges that view by providing evidence that the genetic variations underlying the different blood groups preceded the splits between primate lineages &#8212; one of the few examples of a trans-species polymorphism.</li>
<li>Montreal has the largest underground/enclosed tunnel system in the world &#8212; very handy in the rain!</li>
<li>Montreal&#8217;s Chinatown rivals that of our own San Francisco&#8217;s &#8212; we loved Szechuan restaurant Delicieux Xiang so much we went there twice in one day. Must-have dishes: ma po tofu, spicy lamb, and snow pea shoots. (If you love spicy food, you&#8217;ll be in heaven here.)</li>
</ul>
As ever, we were impressed with the breadth and depth offered by the world&#8217;s largest human genetics conference. &nbsp;23andMe&#8217;s scientists did plenty of their own presenting at ICHG as well, showcasing the company&#8217;s research mission with 10 scientific posters. We are happy to share these posters with our readers below.
(Note that many of these posters present preliminary results that have not yet been peer-reviewed and may require additional investigation to be considered scientifically established.)
Ancestry: 
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011poster-Mountain-1.pdf" target="_blank" rel="noopener noreferrer">Exceptions to the &#8220;One Drop Rule&#8221;? DNA evidence of African ancestry in European Americans.</a> 
JL Mountain, JM Macpherson, CB Do, BT Naughton, RA Kittles1, N Eriksson. 
1University of Illinois at Chicago
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011poster-AncestryFinder-MikeM.2.pdf" target="_blank" rel="noopener noreferrer">Assigning intra-European ancestry to identical-by-descent segments using a large database of self-reported ancestry.</a> 
JM Macpherson, BT Naughton, CB Do, JY Tung, JL Mountain.
Health-related discoveries: 
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/hypothyroidism_ASHG2011.pdf" target="_blank" rel="noopener noreferrer">Novel associations for hypothyroidism include known autoimmune risk loci.</a> 
BT Naughton, JY Tung, AK Kiefer, DA Hinds, U Francke1, CB Do, JL Mountain, N Eriksson. 
1Stanford University, Stanford CA 
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011allergies2.pdf" target="_blank" rel="noopener noreferrer">Genetics of allergy and related phenotypes in participant driven and cross sectional cohorts.</a> 
DA Hinds, G McMahon1, AK Kiefer, CB Do, N Eriksson, M Curran2, M Loza2, D Talantov2, NJ Timpson1, DM Evans1, B StPourcain1, SM Ring1, KC Nadeau3, D Miralles2, G Davey-Smith1, JY Tung. 
1University of Bristol, England; 2Johnson &amp; Johnson, San Diego CA; 3Stanford University, Stanford CA 
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011poster-NKE.pdf" target="_blank" rel="noopener noreferrer">Phenome-wide studies of SNPs from GWAS in a broadly phenotyped population.</a> 
Eriksson N, JY Tung, DA Hinds, CB Do, AK Kiefer, BT Naughton, JL Mountain. 
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/20111004_ashg_fam_hist_poster.pdf" target="_blank" rel="noopener noreferrer">Prediction of complex multifactorial disease: comparing family history and genetics.</a> 
CB Do, JM Macpherson, DA Hinds, BT Naughton, U Francke1, N Eriksson. 
1Stanford University, Stanford CA
Methods: 
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011poster-EMD-v2.pdf" target="_blank" rel="noopener noreferrer">Evaluation of recruitment strategies for web-based genetic studies.</a> 
E Drabant, K Barnholt, C Dijamco, JY Tung, JL Mountain, A Wojcicki. 
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011poster-JYT.pdf" target="_blank" rel="noopener noreferrer">Characteristics of an online consumer genetic research cohort.</a> 
JY Tung, N Eriksson, AK Kiefer, JM Macpherson, BT Naughton, AB Chowdry, CB Do, DA Hinds, A Wojcicki, JL Mountain. 
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011poster-SWu-v4_2.JLM_.pdf" target="_blank" rel="noopener noreferrer">Criteria for evaluating genetic associations for use in direct-to-consumer personal genetic analysis.</a> 
S Wu, G Benton, AB Chowdry, JY Tung, BT Naughton. 
<a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG-KB-poster-2011.JLM_.pdf" target="_blank" rel="noopener noreferrer">Web-based phenotyping for pharmacogenomics research.</a> 
K Barnholt, AK Kiefer, TK Acquaye, RB Altman1, HB McLeod2, JA Johnson3, CB Marsh4, JY Tung, JL Mountain. 
1Stanford University, Stanford CA; 2University of North Carolina at Chapel Hill; 3University of Florida, Gainesville FL; 4Ohio State University, Columbus OH

23andMe and Montreal: Reflections From ICHG 2011

<img loading="lazy" decoding="async" class="alignright size-full wp-image-10127" title="Felix Frueh" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/Felix-Frueh.jpg" alt="" width="213" height="264" />
While a lot of the discussion about personalized medicine is focused on the future, Felix Frueh  of<a href="http://www.medcohealth.com/medco/corporate/home.jsp"> Medco Health Solutions</a> believes the most promising possibilities for individualized care could be implemented right now.
Knowing a person’s underlying genetics with currently available tests could make certain widely prescribed drugs more effective while also avoiding adverse reactions, according to Frueh, who is the president of the Medco Research Institute and spoke to the Blog last week.
“There are very actionable pieces of information that we can derive from genetic testing,” said Frueh.
23andMe is interested in getting this information into the hands of consumers and their doctors. It’s an effort to get away from the “one size fits all” approach to developing and prescribing medication. Pharmacogenomics aims to personalize the use and development of medicine by using a person’s genotype to determine the best drugs for an individual at the best dose. <a href="https://www.23andme.com/health/drugs/">23andMe’s Drug Response</a> reports provide a glimpse into the potential power of this approach. For different individuals, the same drug could be lifesaving, have no effect, or even be life threatening.
Looking specifically at the drugs <a href="https://www.23andme.com/health/Warfarin-Coumadin-Sensitivity/#Warfarin">warfarin</a> (Coumadin ®), and <a href="https://www.23andme.com/health/Clopidogrel-Plavix-Efficacy/#Clopidogrel">Clopidogrel</a> (Plavix ®), there are underlying genetics that can indicate how a patient will respond to the drugs.
This offers great utility for both doctors and patients, according to Frueh.  But less than 1 percent of those prescribing such medication are using available genetic testing to screen for drug responses, he said.
For Frueh this is an opportunity for a “teachable moment.” 

Medco has been involved in several studies looking at both the utility of the tests as well as the willingness of doctors to use them.
While there are genetic tests that can help doctors and patients, they are rarely used. This has more to do with a lack of knowledge about the tests than their usefulness.
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Mixing presentations on new technologies with insight from leading thinkers in the field the <a href="http://pmwc2012.com/index.php" target="_blank" rel="noopener">Personalized Medicine World Conference 2012</a> – January 23-24 at the Computer History Museum in Mountain View – offers another great opportunity to see what is happening now.
In the lead up to the conference, we’ll be running interviews with some of the featured speakers and advisers. In addition to Felix Frueh, of Medco, we&#8217;ll be talking with <a href="http://www.systemsbiology.org/scientists_and_research/faculty_groups/Hood_Group/Profile" target="_blank" rel="noopener">Leroy Hood</a>, president of the Institute for System Biology, and <a href="http://medicine.duke.edu/faculty/details/0097263" target="_blank" rel="noopener">Ralph Synderman</a>, chancellor emeritus at Duke University’s School of Medicine.
Like previous years, this 4th annual meeting gathers business leaders, researchers and clinicians together to offer real-world insights to successfully incorporating personalized approaches to the practice of medicine.
<a href="http://pmwc2012.eventbrite.com/" target="_blank" rel="noopener">Get your tickets now</a> &#8212; early registrants pay discounted prices, and there&#8217;s an additional discount available here until November 1st.
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To that point, Frueh mentioned that in Medco’s clinical programs where physicians who prescribe one of those drugs are contacted by Medco to inform the doctor about the availability of a genetic test that can help guide therapy, about a quarter of the contacted physicians ended up using the tests.
“To me this means that the physicians or patients are not unwilling to use [genetic testing] but that they quite literally don’t know about it,” he said. “From a pharmacogenomics perspective [the test] is sort of a no brainer.”
Frueh, who works on Medco’s efforts to improve the safety and efficacy of prescription drugs, will touch on some of these same ideas and opportunities early next year at the<a href="http://pmwc2012.com/index.php"> Personalized Medicine World Conference 2012</a>.
Frueh knows the promise of pharmacogenomics having worked previously as the associate director of genomics at the FDA. He helped create the genomics review team for the Center for Drug Evaluation and Research and chaired the first interdisciplinary pharmacogenomics review group.
Medco’s work suggests that testing can be helpful not just for doctors but patients as well, especially when it is targeted to a specific treatment.  <a href="http://www.genomeweb.com/mdx/medco-study-suggests-genetic-testing-improves-patient-compliance-statins">A recent study</a> by the company in collaboration with Quest Diagnostics indicates that patients taking statin drugs to lower cholesterol are more likely to take their medications if they’ve been genetically tested for the KIF6 marker. The variant is associated with better response to statin treatment.
“Basically the idea of the study is whether providing information back to patients has an impact on their adherence to statin therapy,” said Frueh.
It does have an impact, and a significant one at that, he said. This not only improves outcomes for the patients, but it can save a lot of money in health care costs. The company reported in June that patients who took statins as prescribed reduced their health care costs by $944 over a year and a half and lowered their risk of hospitalization or heart problems.
For Frueh this indicates that at least in the case of specifically targeted information related to an on-going treatment, genetic testing can help encourage a patient to change his or her behavior.
It also offers a promising opportunity to personalize medicine now, instead of at some time in the future.
See Felix Frueh and other leaders in this field at the <a href="http://pmwc2012.com/index.php" target="_blank" rel="noopener">Personalized Medicine World Conference</a> in early 2012 (see sidebar for details).

A Prescription for Personalizing Medicine

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It&#8217;s been an exciting year for research on Parkinson&#8217;s disease. In March, scientists from Stanford were able to <a href="https://blog.23andme.com/articles/scientists-score-a-breakthrough-with-parkinsons-in-a-petri-dish#more-8772" target="_blank" rel="noopener">recreate features of the disease in a petri dish</a> using cells from a Parkinson&#8217;s patient. In June, we published a paper in PLoS Genetics detailing our discovery of two novel genetic associations with Parkinson&#8217;s. Now, we&#8217;ve also identified a genetic factor in a gene called SGK1 that may protect against the disease.
This preliminary finding comes as a result of our innovative research and recruitment platform, which in just a few years has assembled the largest single genotyped group of Parkinson&#8217;s patients in the world. Of the 125,000 individuals in 23andMe&#8217;s database, there are more than 6,000 with Parkinson’s disease.
Even more astonishing is the fact that we can collect large cohorts of people who share similar genetics, regardless of their health status. Most studies can only recruit individuals who have a disease, but our database allowed us to identify the world&#8217;s largest cohort of people carrying the G2019S variant in the LRRK2 gene. Roughly 1 in 10,000 people have this variant, which is associated with a 50% lifetime risk of Parkinson&#8217;s compared to about 1% in the general population. But within our database there are many people with this high risk variant who are at an age when they should have developed the disease but have not. By comparing these people to those with the variant who did develop Parkinson&#8217;s, we were able to discover the potentially protective nature of SGK1.
Watch 23andMe CEO and co-founder Anne Wojcicki discuss this finding in conversation with WIRED editor Thomas Goetz at the Web 2.0 conference.
https://www.youtube.com/watch?v=9fMeb9urMhw
With generous support from <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener">The Michael J. Fox Foundation</a> (MJFF), we&#8217;ve partnered with <a href="http://www.scripps.edu/" target="_blank" rel="noopener">The Scripps Research Institute</a> to study the connection between SGK1 and LRRK2 further to see if the finding could lead to a potential new treatment for Parkinson&#8217;s disease. Said Todd Sherer, CEO of MJFF, &#8220;The SGK1 discovery, while still early-stage, is a promising outcome of this unique research platform&#8230; We are eager to see the results of the continued investigation of SGK1 by Scripps.&#8221;
Of course, none of this would be possible without our amazing research participants. Although we are well on our way to 10,000, we still need the support of thousands more to reach our goal. If you or someone you know has Parkinson&#8217;s disease, we encourage you to join the community. Participating is easy &#8212; just visit <a href="https://www.23andme.com/pd" target="_blank" rel="noopener">https://www.23andme.com/pd</a> to get involved!
Watch Paula, who has Parkinson&#8217;s disease, tell her story. (This video was first shown at  Health 2.0 San Francisco  earlier this fall.)
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This most recent finding is just the tip of the iceberg of what is possible when individuals come together to contribute to research.  We continue to be inspired, not just by the progress we&#8217;re making, but by people like Paula, who are fighting every day with grace and courage and working towards making the world better for people with Parkinson&#8217;s.
Learn more at <a href="https://www.23andme.com/pd" target="_blank" rel="noopener">https://www.23andme.com/pd/</a>.

Milestones in the Fight Against Parkinson’s Disease

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Testosterone sometimes gets a bad rap. Although scientists <a href="https://www.nature.com/nature/journal/v463/n7279/full/nature08711.html" target="_blank" rel="noopener noreferrer">no longer demonize it</a> as the “aggression hormone,” its use is still considered a form of illegal “doping” in most sports. Setting controversies aside, this hormone certainly plays important roles in health and development. During puberty in boys, testosterone is responsible for facial and pubic hair, accelerated growth, and a deepening voice. Blood testosterone levels are also tied to overall health in men–studies have linked lower concentrations to cardiovascular disease, obesity, type 2 diabetes, and osteoporosis, among other conditions.
While non-genetic factors like age (levels are usually lower in older men), body mass index (BMI), and smoking are known to influence blood testosterone levels, genes also play a role. A study in male twins showed that genetics accounts for up to 65% of the variation in blood testosterone between individuals. However, up until this month, very little was known about the genetic factors responsible for this variation.
In a new study published in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002313" target="_blank" rel="noopener noreferrer">PLoS Genetics</a>, researchers from the CHARGE Sex Hormone Consortium analyzed DNA from over 14,000 men of European descent and identified SNPs associated with low blood testosterone. The authors reported that a variant near the SHBG gene was associated with lower blood testosterone levels.
The fact that variations in SHBG are linked to testosterone levels may not be surprising because SHBG codes for a protein that binds testosterone in the blood. With additional experiments, the researchers observed that the versions of and associated with lower testosterone levels were also linked to lower concentrations of SHBG. Moreover, the SHBG proteins in men with the T version of bound testosterone poorly compared to those in men without the T version.
The new study by the CHARGE consortium builds on   earlier findings by pinpointing additional factors and elucidating some of the biological reasons for their effects. The authors suggest that the genetic factors identified thus far have effects comparable to non-genetic factors on testosterone levels and could be used clinically to identify men who are at risk for low testosterone levels. <a href="http://www.sciencedaily.com/releases/2011/10/111006173437.htm" target="_blank" rel="noopener noreferrer">Says lead author Professor Claes Ohlsson</a> from the University of Gothenburg: &#8220;It is very interesting that the genetic contribution of the identified genetic variants to testosterone concentrations is substantial.&#8221;

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