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.

23andMe Blog

23andMe Blog Team

Your Right to Access Your Clinical Lab Results

<img loading="lazy" decoding="async" class="alignright size-full wp-image-10252" title="mpd-logo" src="https://blog-api.23andme.com/wp-content/uploads/2011/11/mpd-logo.png" alt="" width="156" height="129" />
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.
<div style="float: right; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px; margin-bottom: 15px; font-size: 11px; text-align: justify;">
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-10135" title="PMWC-2012sv" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/PMWC-2012sv-300x108.png" alt="" width="300" height="108" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/PMWC-2012sv-300x108.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/PMWC-2012sv-768x278.png 768w, https://blogcms.23andme.com/wp-content/uploads/2011/10/PMWC-2012sv-1024x370.png 1024w, https://blogcms.23andme.com/wp-content/uploads/2011/10/PMWC-2012sv-880x318.png 880w, https://blogcms.23andme.com/wp-content/uploads/2011/10/PMWC-2012sv-1180x427.png 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
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.
</div>
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

<img loading="lazy" decoding="async" class="alignright wp-image-4013 size-medium" title="geneticresearch7" src="http://35.88.189.111/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg" alt="" width="300" height="230" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
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.)
<iframe loading="lazy" title="23andMe Presents Patient Perspective on Parkinson&#039;s Research" width="500" height="281" src="https://www.youtube.com/embed/fmnrG9MoDx8?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
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

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-10119" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/man-weightlifting-iStock-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/man-weightlifting-iStock-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/man-weightlifting-iStock.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
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;

Genetic Associations For Testosterone Levels in Men

<img loading="lazy" decoding="async" class="alignright wp-image-9801 size-medium" title="Genes mirror geography for Europeans" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-300x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2011/09/Genes-mirror-geography-for-Europeans.jpg 1000w" sizes="auto, (max-width: 300px) 100vw, 300px" />
All the drama in the European Union right now – the debt crisis, the North-South divide and the kvetching over the wisdom of a common currency – has reignited talk about the cultural divide between people on the continent.
But is the divide more than a political and cultural one?
<h6>Differences in European Traits</h6>
Is there a deeper difference among the people of Europe or those of European ancestry than whether Germans have a firmer handshake or are more punctual, or which nationality prefers a kielbasa to köttbullar?
There may be, and those differences can be seen in people’s DNA.
Although all humans are over 99 percent identical genetically, even in the tight geographic confines of Europe there is enough genetic variation that 23andMe researchers can use it to determine  <a href="https://www.23andme.com/about/factoid/pca_geography" target="_blank" rel="noopener noreferrer">from where in Europe</a> a person, or a person’s ancestors, came.
<h6>Clusters of Traits</h6>
Using principal component analysis (PCA) and linear regression – statistical tools for processing and visualizing large, complex datasets – researchers at 23andMe analyzed genetic data from 3,000 customers who all had four grandparents from the same country of origin.
When the results of the analysis are plotted on a two-dimensional graph, individuals of similar ancestry cluster together, and those clusters correspond closely to the geographic locations of the countries of Europe. Researchers at UCLA and the University of Chicago have found <a href="https://www.nature.com/nature/journal/v456/n7218/abs/nature07331.html" target="_blank" rel="noopener noreferrer">similar results</a>.
<h6>Genetic Characteristics</h6>
In that research and the work at 23andMe the clustering shows that populations within Europe have evolved distinct genetic characteristics. Another team took a similar approach to map the  <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0003862">genetic differences in East Asia</a>.
This is more than just a parlor trick for data scientists. These maps illustrate that Europeans and people of European ancestry are not homogenous but are in fact they are genetically diverse. Those differences also manifest themselves in other ways – from physical traits such as eye color, to <a href="https://www.23andme.com/about/factoid/pca_diseaserisk_pdbcc" target="_blank" rel="noopener noreferrer">propensities toward certain diseases</a>, and even <a href="https://www.23andme.com/about/factoid/pca_sociocultural" target="_blank" rel="noopener noreferrer">social and cultural characteristics</a>.
<h6>Northern European Ancestry</h6>
By comparing the ancestry inferred from their genetics to survey responses, 23andMe scientists have identified a number of physical traits associated with a person’s ancestral origin in Europe. In some cases what researchers found is very intuitive – people with Northern European ancestry are more likely to have blue eyes and blond hair, while the hair and eyes of people with Southern European ancestry are more likely brown.
Other associations were more surprising. For instance, 23andMe researchers found that a number of social and cultural traits were strongly associated with a person’s predicted genetic ancestry of origin in Europe.
A self-reported diagnosis of alcoholism was more common than average among people of predicted Irish ancestry for instance, while people with predicted Balkan ancestry were more likely to describe themselves as extraverts.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-10124" title="pca_sociocultural_plots" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/pca_sociocultural_plots.png" alt="" width="600" height="311" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/pca_sociocultural_plots.png 600w, https://blogcms.23andme.com/wp-content/uploads/2011/10/pca_sociocultural_plots-300x156.png 300w" sizes="auto, (max-width: 600px) 100vw, 600px" />
<h6>Parkinson&#8217;s Risk</h6>
And then there were more serious associations between predicted genetic ancestry and certain diseases. Using data from thousands of 23andMe customers of European descent, our researchers found that ancestry may be important in determining the risks for Parkinson’s disease and for basal cell carcinoma, the most common type of skin cancer.
Among 23andMe customers with European ancestry our researchers found that those diseases were more common among those with ancestry from western and northwestern countries in Europe.
All of these associations and others that we found beg many questions. First, do they reflect actual traits among people of different European ancestry or are they simply a reflection of cultural stereotypes among 23andMe customers?
More intriguing is the question of the extent to which these traits are truly influenced by genetics.
While the statistical correlations in the data are strong, we still don’t have a complete picture of why these traits appear to separate according to ancestry. Associations, of course, do not imply causation, so what exactly is going on biologically remains an open question.
See our gallery of Research Findings for PCA plots of ancestry and <a href="https://www.23andme.com/about/factoid/pca_bluevbrowneyes/" target="_blank" rel="noopener noreferrer">eye color</a>, <a href="https://www.23andme.com/about/factoid/pca_sociocultural/" target="_blank" rel="noopener noreferrer">socio-cultural traits</a>, and <a href="https://www.23andme.com/about/factoid/pca_diseaserisk_pdbcc/" target="_blank" rel="noopener noreferrer">disease risk</a> in Europeans.

What European DNA Can Say About Ancestry, Disease Risk, and Cultural Traits

<img loading="lazy" decoding="async" class="alignnone size-full wp-image-10069" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/IndianWomaniStockblog-copy.jpg" alt="" width="300" height="199" />
Type 2 diabetes is characterized by very high levels of sugar in the blood and is the most common form of diabetes. Although eating rich food and leading a sedentary lifestyle contribute to the development of this disease, genetics also play a role.
For reasons unclear to researchers, South Asians are four times more likely to develop <a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/">type 2 diabetes</a> compared to Europeans. Up until last month–when a large genome-wide association study (GWAS) on type 2 diabetes in South Asians was published in <a href="https://www.nature.com/ng/journal/v43/n10/full/ng.921.html" target="_blank" rel="noopener noreferrer">Nature Genetics</a>–very little was known about the genetic factors underlying these differences.
<h2>Type 2 Diabetes Among People of South Asian Ancestry</h2>
The authors behind this study carried out one of the largest type 2 diabetes studies to date, scanning the genomes of nearly 19,000 people with the disease and 40,000 without it, all of South Asian descent.
Their analysis identified six SNPs linked to this condition. When they combined their results with previously published findings in other ethnicities, they found suggestive evidence that five of the six SNPs associated with type 2 diabetes in Europeans. Similarly, there was some evidence that the majority of the genetic risk factors in Europeans were also linked to disease in South Asians. Only three genetic factors were not shared at all between the two groups.
<h2>Differences Between Men and Women</h2>
By performing a sex-specific analysis of the South Asian and European dataset, the researchers found that one SNP– near the UBBP4 gene–was linked to type 2 diabetes in women but not in men. Their data further indicated that the SNP was only associated with disease in women of European descent. The authors also looked to see if the six newly identified SNPs correlated with risk factors for diabetes. Some of those factors include such things as being overweight, but the researchers found no connection.
This study is the first of its kind to identify novel genetic factors for type 2 diabetes in South Asians, a population underrepresented in genetic studies. that is relatively understudied. The authors’ findings suggest that many genetic risk factors for type 2 diabetes are shared between Europeans and South Asians. At the same time, most of the shared factors had stronger statistical evidence of a connection in one ethnicity than the other.
More research is needed to elucidate the biology related to these differences. Read more about this study in in <a href="https://www.nature.com/ng/journal/v43/n10/full/ng.921.html" target="_blank" rel="noopener noreferrer">Nature Genetics</a>.

Genetic Variants Associated with Type 2 Diabetes in South Asians and Europeans

<img loading="lazy" decoding="async" class="alignright wp-image-9969 size-full" src="http://35.88.189.111/wp-content/uploads/2011/10/browneyesblog.jpg" alt="A photo of a face that just shows brown eyes." width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/browneyesblog.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2011/10/browneyesblog-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
By Bethann Hromatka, Ph.D.
Your iris (the colored part of the eye) can tell a lot about you. Like your fingerprint, the patterns on your iris are complex and unique. Because of this, <a href="http://www.guardian.co.uk/uk/2003/jul/29/theairlineindustry.shopping" target="_blank" rel="noopener">iris recognition</a> is used in some countries for national identification systems and to automate border crossings.
Although we know that no two irises are the same, very little is understood about the genetics underlying these differences. Investigators are studying this topic to learn more about iris-related diseases and to provide clues about the brain, since iris and brain development appear to be connected. This is true on a genetic level, for instance, a mutation linked to iris loss is also associated with defects in a portion of the brain called the frontal lobe. In addition, some iris characteristics correlate with neurological diseases like Down syndrome.
A recently published genome-wide association study (GWAS) sought to elucidate the genetic factors involved in normal iris variation between people. <a href="http://www.cell.com/AJHG/abstract/S0002-9297%2811%2900305-3" target="_blank" rel="noopener">Scientists from Australia</a> scanned the genomes of nearly 2,700 individuals, all of European descent, and measured iris characteristics such as <a href="http://www.molvis.org/molvis/v10/a98/larsson-fig1.html" target="_blank" rel="noopener">crypts</a>, pigmented rings, <a href="http://www.molvis.org/molvis/v10/a98/larsson-fig5.html" target="_blank" rel="noopener">furrow contractions</a>, and <a href="http://www.molvis.org/molvis/v10/a98/larsson-fig2.html" target="_blank" rel="noopener">pigmented spots on the iris</a>.
The authors found one SNP that associated with the presence of crypts, oval-shaped areas that represent openings in the iris. This SNP is located near the SEMA3A gene, which codes for a protein that acts in both the iris and brain and directs cell movement. Interestingly, mutations in the SEMA3A gene have been previously linked to neurological disorders including schizophrenia and Alzheimer’s disease.
<img loading="lazy" decoding="async" class="wp-image-9970 size-medium alignleft" src="http://35.88.189.111/wp-content/uploads/2011/10/crypts-300x140.jpg" alt="" width="300" height="140" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/crypts-300x140.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/crypts.jpg 474w" sizes="auto, (max-width: 300px) 100vw, 300px" />The arrows mark examples of crypts. A. No crypts. E. Many large crypts. The American Journal of Human Genetics 89, 334—343, August 12, 2011.
<img loading="lazy" decoding="async" class="alignleft wp-image-9971 size-medium" src="http://35.88.189.111/wp-content/uploads/2011/10/pigmentation-rings-300x136.jpg" alt="" width="300" height="136" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/pigmentation-rings-300x136.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/10/pigmentation-rings.jpg 713w" sizes="auto, (max-width: 300px) 100vw, 300px" />The arrow marks a pigmented ring around the pupil. A. Absence of pigmented ring. B. Yellow/green ring on a blue iris. The American Journal of Human Genetics 89, 334—343, August 12, 2011.
Another SNP was associated with more pronounced <a href="http://www.molvis.org/molvis/v10/a98/larsson-fig5.html" target="_blank" rel="noopener">furrow contractions</a>, which are circular and radial bands that result from the iris folding in exactly the same location each time it adapts to different light conditions. A third SNP, located near the SLC24A4 gene, was linked to pigmented rings that are visible around the pupil and distinguish different shades of green and hazel eyes. Interestingly, previous studies have also linked SLC24A4 to differences in eye color (<a href="https://www.nature.com/ng/journal/v39/n12/full/ng.2007.13.html" target="_blank" rel="noopener">blue versus green eyes</a>). Since pigmented rings on blue irises can cause the eye to appear green or hazel, the authors of this study suggest that the presence or absence of pigmented rings may drive the association between and eye color.
The authors noted that older participants tended to have more furrow contractions and pigmented spots on the iris. Males had more crypts than females, but fewer pigmented spots on the iris, furrow contractions, or pigmentation rings.
It is interesting to wonder why no two irises are the same and this study suggests that some of the differences are due to our genes. These findings also add evidence to the idea that the iris and brain are tightly linked starting very early in human development. Thus, while iris patterns can be used to tell people apart, they may also truly be a <a href="https://www.sciencedirect.com/science/article/pii/S0301051107000312" target="_blank" rel="noopener">window into our minds</a>.

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