<img decoding="async" class="alignright size-medium wp-image-10750" title="top10ten" src="https://blog-api.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg" alt="" width="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg 266w, https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten.jpg 306w" sizes="(max-width: 266px) 100vw, 266px" />
We thought 2010 would be hard to top but we’re happy to say that 2011 has been even better. Scientists uncovered new insights into serious conditions like type 2 diabetes and autoimmune disorders as well as traits like iris patterns. New research has also improved our understanding of the genetics of obesity, a condition that affects nearly two-thirds of Americans. And we ourselves contributed even more to the understanding of Parkinson’s disease while delving into areas that researchers traditionally neglect.
All this and much more happened in 2011 and so this list represents just a snapshot of some of the most intriguing developments.
1. The genetics of Parkinson’s disease gets a little clearer and novel breakthroughs may contribute to potential new treatments.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8774" title="cell-culture_petri-dish" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, 23andMe reported discovering novel genetic variants associated with Parkinson’s disease and in the process also replicated nearly two dozen previously reported associations. Later in the year, we also announced the discovery of <a href="https://blog.23andme.com/articles/parkinsons-discoveries" target="_blank" rel="noopener">a potential protective genetic factor</a> against Parkinson’s disease in the SGK1 gene. We’re not the only ones making progress &#8212; in March, scientists at Stanford announced that they’d successfully created <a href="https://blog.23andme.com/articles/milestones-in-the-fight-against-parkinsons-disease" target="_blank" rel="noopener">a line of cells</a> that exhibits biochemical properties of the disease in the petri dish. Together, these discoveries offer hope in the quest for determining causes and developing possible cures.
2. Genetic factors for type 2 diabetes are shared between populations of South Asian and European descent &#8212; but perhaps not equally.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-10069" title="IndianWoman(iStockblog) copy" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/IndianWomaniStockblog-copy-150x150.jpg" alt="" width="150" height="150">
People with South Asian ancestry develop type 2 diabetes at much higher rates than people with European ancestry, but relatively little is known about the genetic factors influencing this increased risk in South Asians. A recent study of nearly 60,000 people of South Asian descent <a href="https://blog.23andme.com/articles/snpwatch-genetic-variants-associated-with-type-2-diabetes-in-south-asians-and-europeans" target="_blank" rel="noopener">identified several genetic variants linked to type 2 diabetes</a>. These variants also seem to be associated with the disease in Europeans, and similarly, genetic factors previously identified in Europeans appeared to be linked to the disease in South Asians. Most of these genetic variants, however, showed stronger effects in one population than the other.
3. Genetic associations with obesity differ depending on age.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1483" title="medicalscale" src="https://blog-api.23andme.com/wp-content/uploads/2008/09/medicalscale-150x150.jpg" alt="" width="150" height="150">
Genetic variants in the FTO gene have been linked repeatedly to risk for obesity, but new research is also revealing the complex interplay between these variants and non-genetic factors. In a <a href="https://blog.23andme.com/articles/snpwatch-association-between-fto-variant-and-obesity-depends-on-age-and-impacts-development" target="_blank" rel="noopener">study published last February</a>, researchers found that the same version of an obesity-linked SNP had the opposite association with BMI in very young children than it did in older children. The association corresponds with a difference in a developmental marker known as “adiposity rebound”. The timing of adiposity rebound has been linked to obesity and related diseases later in life.
4. Genetic variation is in the eye &#8212; or iris patterns &#8212; of the beholder.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1553" title="browneyes" src="https://blog-api.23andme.com/wp-content/uploads/2008/10/browneyes-150x150.jpg" alt="" width="150" height="150">
Rings, spots and flecks of color, lines and shapes and furrows – although no two irises are the same, what causes these differences? Thanks to an Australian study of nearly 3,000 individuals, we now know that at least <a href="https://blog.23andme.com/articles/snpwatch-genetic-variation-is-in-the-eye-of-the-beholder" target="_blank" rel="noopener">a few specific genetic variants contribute to the appearance of certain iris patterns</a> such as “crypts”, “furrow contractions”, and pigmented rings. So go on, take a look in the mirror and see what kind of patterns you have in your iris and your genetics!
5. Sex matters in genetic association studies.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-9756" title="diversity(iStockBlog)" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/diversityiStockBlog-150x150.jpg" alt="" width="150" height="150">
Many diseases occur more frequently in one sex than the other but most genetic research doesn’t look at these differences, potentially missing genetic factors that have opposite effects in men and women or ones that only have an effect in one sex or the other. A Stanford research group analyzed data from one of the largest and first genome-wide association studies and found several genetic variants associated with Crohn’s disease and coronary heart disease in a sex-specific manner. They suggest that many more sex-specific factors are waiting to be identified.
6. His and Hers: Genetic factors underlying prostate cancer differ in different ethnicities and genetic factors influence breast density in women.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-4873" title="prostatemen" src="https://blog-api.23andme.com/wp-content/uploads/2009/09/prostatemen-150x150.jpg" alt="" width="150" height="150">
New studies continue to increase our understanding of prostate cancer and breast cancer, two of the most common cancers in men and women, respectively. Women with high mammographic density have four to five times higher risk for breast cancer and in January, researchers reported a <a href="https://blog.23andme.com/articles/snpwatch-researchers-identify-variant-associated-with-breast-density" target="_blank" rel="noopener">genetic variant linked to both mammographic breast density and breast cancer risk in women</a>. For prostate cancer, we know quite a bit about genetic factors in Europeans but far less about those relevant for African Americans. In May, one of the largest studies of prostate cancer in African Americans found that <a href="https://blog.23andme.com/articles/ethnicity-matters-in-research-a-case-study-in-prostate-cancer" target="_blank" rel="noopener">only half of the genetic factors</a> linked to prostate cancer in people of European descent are linked to the cancer in African Americans.
7. 23andMe initiatives old and new prove the power of participant-driven research.
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In 2011, we launched two new research initiatives. The first, focused on myeloproliferative neoplasms, continues our commitment to advancing knowledge of rare diseases using our unique research platform. The second initiative, Roots into the Future, aims to improve our understanding of the connection between DNA and disease in African Americans, a population that is significantly understudied. We’ve been enrolling participants into both of these initiatives at an incredible pace and are extremely excited to begin making important discoveries with their help. And as our Sarcoma Community Night showed us, our research participants are among the most passionate and inspiring people in the world.
8. Scientists discover new genetic factors for migraine susceptibility and 23andMe replicates the findings in days.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-5157" title="migraine" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, the largest migraine study to date reported three genetic variants associated with risk for this debilitating disorder. It turns out that 23andMe’s database contains thousands of people who suffer from migraines and we were able to replicate the new study’s findings in a matter of days. This is just a small example of the power and speed of our research platform as shown by a paper we published in August replicating more than 180 genetic associations for three dozen different medical conditions in a fraction of the time it would take using the traditional research model.
9. Many genetic factors are shared across multiple autoimmune disorders.
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Numerous studies have pinpointed genetic factors associated with autoimmune disorders such as rheumatoid arthritis, multiple sclerosis, lupus, and psoriasis to name a few. Some of these genetic factors pop up over and over again, raising the question of whether these disorders are genetically interconnected. A study published in August took a closer look at this question by examining more than 100 genetic variants previously linked to autoimmune disorders. The result: nearly half of these variants are associated with at least two different conditions.
10. New insights into our shared African ancestry, both ancient and recent.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8628" title="Hadza-hunter" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
Prevailing scientific thought pins the origins of the human species in eastern Africa, but new research published this past March suggests a different story. By measuring genetic variation from different populations around Africa, researchers at Stanford, UCSF and 23andMe found evidence that our ancestral origins may actually lie in southern Africa. And for many people of European descent, their African ancestral origins may be much closer than that. Scientists at 23andMe examined the genetic ancestry of nearly 80,000 individuals who are likely to identify as entirely of European ancestry and discovered that between three and four percent have some amount of “<a href="https://blog.23andme.com/articles/hidden-african-ancestry" target="_blank" rel="noopener">hidden African ancestry</a>”.

23andMe Blog

23andMe Blog Team

Our Top 10 for 2011

It’s hard to picture a more “personalized” approach to medicine than Dr. Ronald Levy’s.
Levy, chief of the oncology division at Stanford University’s School of Medicine, has spent his career finding ways to induce a person’s own immune system to fight cancer, specifically lymphoma.
<img loading="lazy" decoding="async" class="alignright wp-image-10571 size-medium" title="Ron Levy" src="http://35.88.189.111/wp-content/uploads/2011/11/Ron-Levy-287x300.jpg" alt="" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/11/Ron-Levy-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2011/11/Ron-Levy.jpg 408w" sizes="auto, (max-width: 287px) 100vw, 287px" />
Levy will be speaking early next year at the <a href="http://pmwc2012.com/index.php">Personalized Medicine World Conference 2012</a> about his work and strategies for bringing personalized medicine into the clinic. His many awards include the General Motors Kettering Prize and the American Society of Clinical Oncology Karnofsky Award, and, ion 2009, the King Faisal International Prize in medicine. He was elected to the Institute of Medicine in 2007.
In his work Levy targets the receptor molecules on the surface of cancer tumors using monoclonal antibodies that in turn induce an immune response – personalized antibodies – meant to kill the cancer.
“Each tumor is unique,” Levy said of lymphoma.
And “every person has a target that we can make an attack against.” 
His pioneering work on this kind of patient-specific therapy – and a hoped for cancer vaccine – led to the formation of the company IDEC Pharmaceuticals in 1985. 
While the company was able to develop some promising therapies the approach “wasn’t a good business model,” Levy said. 
Yet that early work led to the development of Rituximab, an antibody used in the treatment of lymphoma, which is part of the core business for the company that absorbed IDEC, Biogen Idec. According to the company, Rituximab is most prescribed treatment for non-Hodgkin&#8217;s lymphoma. 
Levy is now working to develop treatments against B-cell lymphoma and looking at promising avenues for the development of a patient-specific cancer vaccine. His lab is also using high throughput sequencing to identify mutations in pathways with hopes of also identifying drug targets and stimulating the immune system to fight the cancer. 
Levy is now working to develop other treatments against B-cell lymphoma and looking at promising avenues for the development of a patient-specific cancer vaccine. As with BRCA gene tests that are used to indicate risks for breast cancer, Levy envisions similar tests for other cancers. Knowing if a patient is at a higher risk for developing a cancer could help doctors and patients take steps immediately to try to prevent it, he said. Once cancer occurs, its genetic profile can inform the choice of which drug to use 
Although genetic tests are already being used in a limited way, Levy believes we’ve only scratched the surface. 
“Right now there are a handful of things we can test for that can make a difference for a patient,” he said. “In the future it’s not going to be a handful but a computer full.” 
Genetic work-ups are increasingly becoming common, and Levy sees the only obstacle to more universal adoption of these individual genetic work ups being their relative utility. 
“It’s limited simply by the proof of value,” he said. “Once the community sees that they work these things get adopted at lightening speed.”

A Cancer Fighter Gets Personal

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-10516" src="https://blog-api.23andme.com/wp-content/uploads/2011/11/Intestinal-Parasitic-Worms-225x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/11/Intestinal-Parasitic-Worms-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/11/Intestinal-Parasitic-Worms-271x271.jpg 271w" sizes="auto, (max-width: 300px) 100vw, 300px" /> Pinworms–small worms that infect the intestines–are the most common worm infection in the United States.
Although all people are over <a href="https://www.genome.gov/17516714" target="_blank" rel="noopener">99.9%</a> genetically identical, the small amount of diversity that does exist between individuals tends to track with ethnicity.
This is probably pretty obvious–an individual of Japanese ancestry is more genetically similar to another Japanese person than to someone of European heritage.
What might not be so obvious is that genetic diversity arises in the first place from random changes to DNA that are passed down through generations. Although most of these changes do not impact how people interact with their local environments, some changes do and are said to be under evolutionary pressure. Climate, diet, and pathogens are examples of environmental factors that can exert pressure, causing one version of a piece of DNA to become more common in a population than it would be by chance alone.
Variation related to pigmentation–skin, hair, and eye color–is a well-known example of natural selection. Now, a study led by  Matteo Fumagalli from UC Berkeley  and published in <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002355" target="_blank" rel="noopener">PLoS Genetics</a> suggests that pathogens have also been an important driver of local adaptation over the course of human evolution. The researchers behind this study scanned DNA from 55 distinct human populations and correlated 500,000 SNPs with environmental factors such as temperature, diet, and pathogen diversity.
Although about 95% of the observed human genetic diversity appeared to be due to non-selective processes, a finding that was not surprising, adaptation to local environments–and specifically to pathogens–also accounted for a significant amount of genetic diversity.
Viruses, bacteria, protozoan organisms that cause malaria and leishmaniasis, and parasitic worms are all examples of pathogens.
The study’s findings suggest that about 100 human genes have been strongly influenced by pathogenic organisms. Parasitic worms seem to have posed the most pressure on human genes. Because worms are complex organisms with longer lifespans than more simple pathogens, they may have co-evolved with people and exerted more pressure on the human genome.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Natural Selection of Skin Color
The evolution of skin pigmentation is a classic example of how local environments can pressure human genes.
People with more melanin have darker skin tones and survive better–at least without the modern day application of sunscreen–in sunny environments. On the level of DNA, this means that versions of genes associated with more melanin production were selected for in people living in sunny climates.
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Unfortunately, it seems the same genetic adaptations that protected our ancestors from pathogens may now have undesirable consequences in modern societies. Twenty-three of the genes influenced by pathogen-driven selection are involved in the immune system and implicated in autoimmune diseases such as celiac disease, type 1 diabetes and multiple sclerosis. The researchers suggest that versions of SNPs associated with increased risk for autoimmunity may have become relatively common in some populations because they used to protect our ancestors from infection.
This study offers new evidence for the <a href="http://www.scientificamerican.com/podcast/episode.cfm?id=can-it-be-bad-to-be-too-clean-the-h-11-04-06" target="_blank" rel="noopener">hygiene hypothesis</a>, a currently unproven theory suggesting that ramped up immune systems originally evolved to protect people from infectious organisms. As societies devised ways to keep pathogens at bay, however, their immune systems failed to adjust and they began to suffer from immune diseases characterized by too much inflammation.

Is Autoimmunity a Result of Genetic Adaptation to Pathogens?

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-10441" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/nervesiStock.jpg" alt="" width="300" height="225" />
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.

This is Your Brain on Retrotransposons

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.
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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]
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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

<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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If you&#8217;re just joining us, our scientists are busy this week presenting findings from our research at ICHG/ASHG 2011 in Montreal.
But not all of our scientific contributions are in the realm of genetic associations. As some of our other conference posters have shown, we also spend a lot of time thinking about unique methods for analyzing and evaluating data, not just to investigate pressing scientific questions of relevance to our product, but to provide a comprehensive service that continuously evolves as the science does.
Our final set of posters  focuses on our Ancestry features, which include innovative tools like Relative Finder and Ancestry Finder, and  our Health reports, for which we have designed a framework that fits the unique context of direct-to-consumer, participant-driven genetics research.
(For a list of all of our presentations, click <a href="https://blog-api.23andme.com/wp-content/uploads/2011/10/ASHG2011posters23andMe.pdf" target="_blank" rel="noopener noreferrer">here</a>.)
<h5>Learning more about where people are from with Ancestry Finder</h5>
Nearly two years ago we launched Relative Finder, an innovative tool for analyzing autosomal DNA data to match genetically related individuals. About a year later we followed this up with a feature called Ancestry Finder, which uses the same algorithm as Relative Finder to identify matching DNA segments between individuals but goes an extra step of providing geographic ancestry information corresponding to country of origin for each individual&#8217;s grandparents. More than 35,000 customers have filled out this information, providing a wealth of data to investigate how well self-reported ancestry reflects genetic ancestry.
Research Scientist Dr. J. Mike Macpherson shares findings from an analysis of the data driving Ancestry Finder during the poster session on Friday October 14th from 2-3pm with his poster,
&#8220;Intra-European Ancestry Assignment: Insights from Identity-By-Descent in a Large Database of Self-Reported Ancestry.&#8221; (#445F)
<h5>Keeping customers updated on the latest genetics research</h5>
One of 23andMe&#8217;s missions is to be the world&#8217;s most trusted source of genetic information. While this includes the actual As, Ts, Cs, and Gs, it also includes information about associations between genetic variants and various health conditions and traits. The available knowledge is constantly evolving as researchers conduct and publish studies, and thus we are constantly evaluating new findings as they come out. Ensuring scientific validity is paramount, but with a large customer base holding varied interests, we must also consider the relevance, completeness, and diversity of content when deciding which findings to report.
Science Content Manager Dr. Shirley Wu discusses these considerations and the criteria we&#8217;ve developed to address them during the poster session on Friday October 14th from 2-3pm with her poster.
&#8220;Criteria for evaluating genetic associations for use in direct-to-consumer personal genetic analysis.&#8221; (#1353F)
  
(Also see our white paper describing our criteria for vetting genetic associations reported in the scientific literature.)
Check back later for recaps of the event!

What’s Behind 23andMe Health and Ancestry

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<a href="http://www.lonefrank.dk/" target="_" rel="noopener">Lone Frank</a>, the award-winning Danish science writer, claims to be shy, but I don’t believe her.
There’s nothing reserved about exposing yourself as she’s done in her entertaining and enlightening new book My Beautiful Genome: Discovering Our Genetic Future One Quirk at a Time. (Oneworld Publications, October 2011.)
Frank bears all in a book that is at once about cutting edge genetic science and also about someone on a personal journey of discovery.
&#8220;What is the most interesting subject in the world?” Frank asks. “For all of us, it’s the same thing – ourselves. Me.&#8221;
But Frank, who has a Ph.D in neurobiology, isn’t navel gazing here. She uses herself and her &#8220;quirks&#8221; to delve into the scientific as well as social implications of people having access to their own genetic data. She thinks it&#8217;s a good thing, and although this book is about her, Frank is really asking much broader questions.
&#8220;The past, in its way, was gone. And the future – well, you could see an end to it,&#8221; Frank writes. &#8220;At forty-three, I’d reached the age when the chance of having children was pretty much theoretical.&#8221;
And at this point in her life, she has questions:
&#8220;Where do I come from? Who am I? Am I going to be like my parents? How will I die? And when?&#8221;
Not shallow inquiries at all.
Inquiries like these have driven other great scientific pursuits. As the renowned Oxford evolutionary biologist Richard Dawkins recently told the <a href="https://myaccount.nytimes.com/auth/login?URI=https://www.nytimes.com/2011/09/20/science/20dawkins.html&amp;OQ=Q5fQ72Q3dQ31Q26Q70Q61Q67Q65Q77Q61Q6eQ74Q65Q64Q3dQ61Q6cQ6c" target="_" rel="noopener">New York Times</a>, these are the questions that fuel his work.   &#8220;My interest in biology was pretty much always on the philosophical side. &#8216;Why do we exist, why are we here, what is it all about?'&#8221;
Framing her own journey, Frank begins her book with a quote from Danish artist Asger Jorn – “The only way to be general is to be deeply personal.”
That’s what she’s done here.
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During a call from her home in Denmark, Lone Frank provided the Blog with a few tidbits about her new book My Beautiful Genome.
Frank believes we’re at the dawning of the age of personal genomics. It’s a time that’s not too different from the moment just before the personal computer revolution began 30 years ago.
&#8220;I think what’s most useful is just getting on the bandwagon and becoming engaged with your biology,&#8221; Frank said of genetic testing. &#8220;You learn so much more about who you are.&#8221;
There’s no doubt from her book that she’s all in on the idea. 
The process of looking into her genetics made her “more present in my biology” or simply put – more attuned to her body. 
Your genetics are actually malleable, she said. For Frank this was particularly relevant because of her bouts of depression.
&#8220;It turns out I&#8217;m homozygous for all the bad variants, which makes a lot of sense,&#8221; said Frank. &#8220;But you can turn that around. When I know this is a biological disposition it&#8217;s easier to understand and I can use it to distance myself from stuff when I&#8217;m going down that black hole.&#8221;
Some tend to see genes as a set of fixed instructions. But those instructions and how a gene is expressed &#8212; turned on or off &#8212; are influenced by everything from nutrition, stress, hormones and environmental exposures.
&#8220;It&#8217;s like the black box is getting opened and you&#8217;re seeing how your genes and the environment determine whether you get a disease or not,&#8221; Frank said.
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One reviewer called Frank&#8217;s book a bit &#8220;masochistic&#8221; for her frankness about her bouts of depression, her family&#8217;s history of suicides and her own psyche. But there&#8217;s a purpose to her over-sharing. In a world where consumers are increasingly getting access to their own genetic data,  Frank turns to genetics for answers about her ancestry, her traits and her risks for diseases. And she uses it to delve into difficult questions about her prickly personality.
In one of the many wry and offhand comments in the book she responds to a researcher&#8217;s insight into her harsh judgment of others with the thought,  &#8220;Give me a break. Doesn&#8217;t the man realize how stupid other people can be?&#8221;
The book tracks both a personal and a physical journey. As any good journalist would, Frank travels to the source, manifested here by visiting genetics pioneer  <a href="http://www.nobelprize.org/nobel_prizes/medicine/laureates/1962/watson-bio.html" target="_" rel="noopener">James Watson</a> at Cold Spring Harbor Laboratory. Watson, who with <a href="http://www.nobelprize.org/nobel_prizes/medicine/laureates/1962/index.html" target="_" rel="noopener">Francis Crick</a> discovered the structure of DNA, has his own personality &#8220;quirks&#8221;, highlighted publicly through some boorish opinions about women, Africans and overweight people. But Frank bypasses this for a chance to get some insight from him about where the study of genetics is going.
Watson sends her off with two ideas: that &#8220;missing heritability&#8221; – the Holy Grail of genetics  – will be found in rare genetic variants that arise not from the genes you inherit from your parents but through mutations that arise through illnesses and environmental factors; and that &#8220;If you want to know something about your genome, you have to have a lot of eyes on it.&#8221;
Frank takes this last bit of advice to heart. She uses several direct-to-consumer genetics services to learn about her ancestry, health and traits. She meets with a series of innovators in the personal genomics industry. There&#8217;s a conversation with <a href="https://www.23andme.com/">23andMe</a> co-founder Linda Avey, and deCODE Genetics&#8217;s Kari Stefansson. She gets some time with Harvard’s <a href="http://arep.med.harvard.edu/gmc/" target="_" rel="noopener">George Church</a> of the Personal Genome Project and <a href="http://www.nationalgeographic.com/field/explorers/spencer-wells/" target="_" rel="noopener">Spencer Wells</a> of the National Geographic Society&#8217;s &#8220;Genographic Project.&#8221;
Frank also submits to a study by University of Copenhagen researchers doing experimental work about the genetics around personality. For Frank it isn’t pretty.
&#8220;Your agreeableness couldn’t be lower,&#8221; they conclude. &#8220;Then there is your low score on altruism and sympathy.&#8221;
She talks to researchers using genetics to determine the effectiveness of medicines, and delves into whether her Danish ancestry might include a long lost Spaniard. She learns of her risks for breast cancer and peripheral arterial disease. And she dives into how her genetics may influence her propensity toward depression.
In the end Frank finds the process freeing. Genetics isn&#8217;t her destiny, she says.
&#8220;My genome is not a straitjacket but a soft sweater to fill and shape, to snuggle up and stretch out in,&#8221; Frank says. &#8220;So who am I? I am what I do with this beautiful information that has flowed through millions of years through billions of organisms and has, now, finally been entrusted to me.&#8221;
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Lone Frank’s “Beautiful Genome”

More than two decades ago, on opposite sides of the country, two babies were cast away with slim chances of surviving.
“Miraculous Mary,” as she was called then, was found along a California highway wrapped in a towel and stuffed into a brown paper bag, while “Baby Jane Doe” was found in a box with the trash in a Bronx alley. 
Both babies survived.
Mary became Ashley and Baby Jane became Alison. Despite their dark beginnings, the two women, now 24, wanted to know about where they came from. Their stories and the story about how they traced their ancestry was told this week on Anderson Cooper’s new show Anderson.
The two women and the shows producers turned to 23andMe to help fill in the blanks.
Joanna Mountain, Senior Director of Research, traced the two women’s genetic history using samples of their saliva. 
23andMe has several tools to help customers explore their ancestry,<a href="https://www.23andme.com/ancestry/origins/"> Ancestry Painting</a>, which break down a person’s ancestral origins and<a href="https://www.23andme.com/ancestry/relfinder/"> Relative Finder</a> which pair people with close family matches as well as more distant cousins who may be in our database of more than 100,000 people.
Joanna was able to explain that Alison’s DNA – which included a mix of European, African and Native American ancestry – indicated that her parents were likely Puerto Rican. Looking at Ashley’s DNA, Joanna was able to determine that her ancestry was exclusively European. But in a surprising twist for Ashley, who was raised Catholic, her DNA revealed not just northern European ancestry but also Ashkenazi Jewish ancestry.

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