<img loading="lazy" decoding="async" class="alignright wp-image-12123 size-full" title="sweets" src="http://35.88.189.111/wp-content/uploads/2012/04/q2.gif" alt="" width="194" height="147" />
As part of<a href="http://www.parkinson.org/"> Parkinson’s Awareness Month</a> 23andMe is releasing <a href="https://www.23andme.com/about/factoid/pd_phewas_personality" target="_blank" rel="noopener">the first</a> of three surprising associations we’ve found between Parkinson’s and certain traits.
The associations are surprising because they appear so unrelated to the disease itself, but they may offer insight into the direction for future research.
Parkinson’s is a degenerative brain disorder, but sifting through the data 23andMe scientists have found associations with such things as personality types, joint pain and levels of cholesterol.
These associations may indicate true relationships between say, cholesterol metabolism and the development of Parkinson’s, or they may simply reflect some other underlying phenomenon.
We don’t know yet, but we do know that other similar odd associations – such as some Parkinson’s patients developing a “sweet tooth,” or losing their sense of smell – have helped researchers diagnose and track the progress of the disease, which initially can be difficult. For instance, the loss of smell is associated with the loss of dopamine receptors in the brain, and it is an early indicator of the disease. The sooner Parkinson’s can be diagnosed the sooner treatment can start.
23andMe researchers looked at more than 1,000 different traits, conditions and diseases to find these associations with Parkinson&#8217;s. At the very least, they open up interesting directions for further inquiry.

23andMe Blog

23andMe Blog Team

Unexpected Associations with Parkinson’s

Recently, we invited a local support group for men with early onset Parkinson’s to come to our office. The idea was to give these guys a chance to learn about about 23andMe and our Parkinson’s Research Community, but we probably learned as much if not more from them then they did from us.
23andMe’s Parkinson’s Research Community has already made great strides and discovered new insight into the disease. In a short time we’ve grown to include more than 7,300 participants. But we are still short of our goal of gathering together 10,000 people with Parkinson’s to join in our effort to beat the illness.
Over beer and pizza, the men talked about how surprising it was that, given the numbers of people with Parkinson’s, more haven’t joined 23andMe’s Research Community. But the group also acknowledged a common refrain for those dealing with a diagnosis – it is sometimes easy to go into denial about it.
Indeed looking around at the men in the room you wouldn&#8217;t know that any were suffering from a degenerative disease. Most of them are still in the prime of their lives, with thriving careers and active families. But it is this ability to maintain appearances that allows some with Parkinson’s to wait to tackle issues with their illness. It may also be why participation in Parkinson’s research as a whole is lower than for many other diseases.
It is here that the men said 23andMe could help the most by engaging and involving patients in research. During what turned into a great brainstorm session the men offered many ideas for ways that we could reach our goals and serve the research community.
We hope to continue these types of events for all of our research communities. If you have ideas or suggestions, please feel free to share them with us in the comments below.
If you or someone you know has been diagnosed with Parkinson&#8217;s disease, please learn more at <a href="https://www.23andme.com/pd">www.23andme.com/pd</a>.

Beer, Pizza and Parkinson’s: 23andMe Hosts Parkinson’s Support Group

<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-11702" title="haplogroup-I" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/haplogroup-I.png" alt="" width="514" height="268" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/haplogroup-I.png 514w, https://blogcms.23andme.com/wp-content/uploads/2012/03/haplogroup-I-300x156.png 300w" sizes="auto, (max-width: 514px) 100vw, 514px" />
<a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(11)61453-0/abstract" target="_blank" rel="noopener noreferrer">A recent study in The Lancet</a> reported that variation on the Y chromosome &#8212; haplogroup I, tagged by the SNP rs2032597 &#8212; is associated with coronary artery disease (CAD) in British men, with an odds ratio of 1.56. This finding stands out for several reasons. For one thing, the effect is substantially larger than any other reported genetic associations with CAD. Furthermore, it is rare to hear about functional effects of Y chromosome variation &#8212; at least partly because the Y chromosome is small and contains very few genes. The finding also invites special attention for some of the same reasons that make the Y chromosome interesting for population genetics. Here, we discuss the special properties of the Y chromosome and their implications for association studies, our concerns about the evidence the authors use to support their finding, and observations from the 23andMe database for haplogroup I and heart disease.
<h6>Why the Y is problematic</h6>
Most of the Y chromosome is not subject to recombination (the shuffling of maternal and paternal DNA that creates the unique genetic material passed down through sperm and egg) and is inherited intact from father to son. A consequence of this is that genetic variation on the Y chromosome is strongly associated with genetic ancestry. That doesn&#8217;t necessarily mean that genetic variation on the Y can&#8217;t also be functional, but it complicates functional analyses because it can be especially difficult to distinguish between ancestry effects and effects that are directly due to a particular Y chromosome variant. The lack of recombination also means that variants that are very far apart on the Y chromosome can still be strongly correlated, so it is also very difficult to use an association on the Y chromosome to identify a particular region as functionally important: the causal variant could be almost anywhere on the chromosome.
<h6>How strong is the evidence?</h6>
In The Lancet study, the authors carefully checked for alternative explanations for the association between haplogroup I and CAD. They looked for differences in conventional cardiovascular disease risk factors &#8212; both clinical biomarkers like blood pressure, BMI, and HDL, and lifestyle factors like smoking, alcohol consumption, and education &#8212; between haplogroup I and other haplogroups. None of these explained the association between haplogroup I and coronary artery disease. The authors also showed that the presence of haplogroup I did not correlate with the most significant dimensions of genetic ancestry within the study participants. This is a little surprising because haplogroup I is differentially distributed across Europe on a larger scale: it has a higher prevalence in Scandinavia and a lower prevalence in Southern Europe. Of course, it is possible that this gradient is not present in the smaller population of British men.
The trouble with candidate gene studies Candidate gene association studies (studies looking at one or a few genes as opposed to studies looking at variation across the entire genome) have a long and somewhat sordid history, largely because we tend to misjudge our ability to choose hypotheses that have a good likelihood of being true. If we choose a SNP at random and hypothesize that it might be associated with CAD, it would probably be better to use the genome-wide threshold for statistical significance (p-value &lt; 5 x 10-8) to evaluate the results, rather than, say, P &lt; 0.05 based on the fact that we have done just a single statistical test. If we&#8217;ve used a lot of prior knowledge to choose this one SNP, then maybe we could argue for using a more lenient standard. But it is very hard to decide how much prior knowledge is &#8220;worth&#8221; in this context.
What about the statistical evidence in favor of the haplogroup I association? In the target population of British men, more than 90% of individuals have either haplogroup I or another paternal haplogroup, R1b1b2. One could thus argue that the authors are effectively performing just a single statistical test comparing these two groups. On that basis, their statistical results (p-values of 0.004 in their initial study set, 0.012 in their replication set, and 0.0002 overall), seem convincing. However, it could be argued that the odds were stacked against their initial hypothesis that Y chromosome variation might be associated with CAD. The reported result would not meet criteria for significance in a genome wide association study (typically, p-values &lt; 5 x 10-8), so a lot depends on the credibility of this initial hypothesis.
The authors suggest that their hypothesis was motivated by the observation that CAD is more common in men than women but this fact is not convincing by itself. Physical differences between men and women are largely determined by the presence or absence of the Y chromosome, but that does not necessarily mean that specific variations on the Y chromosome affect traits or risk for disease among men. (It is much more likely that variations in many other parts of the genome that are functionally involved in those traits account for those differences.) The authors also cite work on animal models, as well as a few studies in humans suggesting that Y chromosome variants may affect cardiovascular phenotypes. However, the authors did not test the specific variants or phenotypes implicated in those studies.
<h6>Findings in the 23andMe community</h6>
We investigated whether the tag SNP for haplogroup I &#8212; the C version of rs2032597 &#8212; was associated with cardiovascular phenotypes in men with European ancestry from the 23andMe community using four traits: self-reported coronary artery disease, heart attack, high blood pressure, and high cholesterol. The following table shows results of association tests for these phenotypes. We see no significant association between rs2032597 and any cardiovascular phenotype, and can easily exclude values as large as the odds ratio of 1.56 reported by the authors of the Lancet study.
<div style="border: 1px solid #ccc; padding: 10px; margin-top: 10px; margin-bottom: 10px;">
Table 1. Association results for rs2032597 and heart disease phenotypes
<table style="font-family: 'Courier New'; font-size: 13px;" cellspacing="10">
<tbody>
<tr>
<td></td>
<td># cases</td>
<td># controls</td>
<td>p-value</td>
<td>Effect</td>
<td>95% CI</td>
</tr>
<tr>
<td>Coronary artery disease</td>
<td>1014</td>
<td>20120</td>
<td>0.92</td>
<td>1.009</td>
<td>[0.845,1.206]</td>
</tr>
<tr>
<td>Heart attack</td>
<td>486</td>
<td>22498</td>
<td>0.31</td>
<td>0.881</td>
<td>[0.687,1.130]</td>
</tr>
<tr>
<td>High blood pressure</td>
<td>5230</td>
<td>15797</td>
<td>0.34</td>
<td>0.958</td>
<td>[0.878,1.046]</td>
</tr>
<tr>
<td>High cholesterol</td>
<td>7970</td>
<td>15030</td>
<td>0.84</td>
<td>1.008</td>
<td>[0.932,1.090]</td>
</tr>
</tbody>
</table>
</div>
In contrast, we replicate the association for rs4977574, which is the variant (located on chromosome 9) most strongly associated with CAD in a recent <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119261/" target="_blank" rel="noopener noreferrer">large-scale meta-analysis</a>. In this case, results from the 23andMe database match the reported odds ratio of 1.3, suggesting that self-reported data from 23andMe members is sufficient for detecting true associations.
<div style="border: 1px solid #ccc; padding: 10px; margin-top: 10px; margin-bottom: 10px;">
Table 2. Association between rs4977574 and heart disease phenotypes
<table style="font-family: 'Courier New'; font-size: 13px;" cellspacing="10">
<tbody>
<tr>
<td></td>
<td># cases</td>
<td># controls</td>
<td>p-value</td>
<td>Effect</td>
<td>95% CI</td>
</tr>
<tr>
<td>Coronary artery disease</td>
<td>1014</td>
<td>20120</td>
<td>2.7E-08</td>
<td>1.312</td>
<td>[1.192,1.444]</td>
</tr>
<tr>
<td>Heart attack</td>
<td>486</td>
<td>22498</td>
<td>3.9E-05</td>
<td>1.318</td>
<td>[1.155,1.503]</td>
</tr>
<tr>
<td>High blood pressure</td>
<td>5230</td>
<td>15797</td>
<td>0.0091</td>
<td>1.065</td>
<td>[1.016,1.117]</td>
</tr>
<tr>
<td>High cholesterol</td>
<td>7970</td>
<td>15030</td>
<td>0.18</td>
<td>1.029</td>
<td>[0.987,1.073]</td>
</tr>
</tbody>
</table>
</div>
<h6>Concluding thoughts</h6>
What might explain the failure to replicate The Lancet finding in the 23andMe cohort? One possibility is that it is simply a false positive, and the apparent replication in the original study was just luck. Another possibility is that the association is real but restricted to the original study population of British men. That is, it might replicate in a new study of British men, but might not generalize well. Distinguishing between these possibilities will probably require additional studies, since it is very difficult to &#8220;prove a negative&#8221; and establish that a hypothetical association does not exist. The authors suggest that their study is the first to evaluate association between Y chromosome haplogroups and CAD. However, rs2032597 is present on recent Illumina SNP arrays used for GWAS, so data for this variant should exist in other large studies of CAD. Thus, it should be possible to quickly test many cohorts for this association, even if the Y chromosome data has not been previously analyzed.

Haplogroup I Likely Not Linked to Heart Disease

<img loading="lazy" decoding="async" class="alignright wp-image-4873 size-full" title="prostatemen" src="http://35.88.189.111/wp-content/uploads/2009/09/prostatemen.jpg" alt="" width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/09/prostatemen.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/09/prostatemen-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
A study published yesterday in <a href="http://stm.sciencemag.org/content/early/2012/04/02/scitranslmed.3003380">Science Translational Medicine</a> from a group at Johns Hopkins University set out to determine the best-case power of genetics to provide clinically meaningful information about risk of common diseases. The authors did this using data from identical twin pairs: by seeing how often twins with identical genomes develop the same diseases, we can judge the extent to which those diseases are determined by genetics, and the extent to which they might be predictable if we completely understood their genetics.
The study&#8217;s key findings were that most people could obtain a result that they are at significantly elevated risk of at least one disease. But for most diseases, they would learn that their genetic risk places them not far from the average risk across the population. In a few cases, the authors found that a genetic test could potentially identify most individuals who eventually will develop a disease: this was true for thyroid autoimmune disease, type 1 diabetes, Alzheimer&#8217;s disease, and coronary heart disease in men. The authors conclude that genetic testing will not replace conventional preventive medicine.
We agree with the authors that it is important to set reasonable expectations for what genetic testing can and cannot do. We think the positive finding that genetic testing can have some clinical utility for risk assessment for common disease is encouraging. We also think it is very encouraging that there are a few diseases where genetic testing could be particularly powerful &#8212; Alzheimer&#8217;s disease and coronary heart disease are not small potatoes and early alerts of increased risk of these conditions could have substantial public health benefits.
Many of our more than 125,000 23andMe customers receive a risk report for a common disease that indicates that they are at substantially increased or decreased risk, using criteria similar to the ones used in this study. In addition to disease risks, 23andMe customers also receive information about their carrier status for inherited diseases and possible drug responses based on genetics, both of which already make an impact in personalized medicine today.
On a more technical note, the study&#8217;s finding that negative genetic test results are mostly uninformative is largely an artifact of the authors&#8217; mathematical modeling procedure and the fact that risk predictions for each disease were binned into just two buckets for &#8220;negative&#8221; and &#8220;positive&#8221; results. The authors pre-specify a baseline risk that for most diseases is not much smaller than the population average risk, and disease risk associated with different genotype classes is constrained to fall between the baseline value and 100%. Thus, it is impossible for anyone to have disease risk much less than the population average, and most individuals with &#8220;negative&#8221; results are pegged at the baseline risk level. Models that place some individuals at substantially lower risk would also be consistent with the observed twin data, but this study is not effectively exploring the potential utility of these negative findings.
Do we believe that genetic testing could ever substitute for conventional preventive medicine? No, and we don&#8217;t think it should. Instead, it is more useful to think about genetic testing as one of many sources of information &#8212; along with family history, lifestyle, and conventional clinical testing &#8212; that can inform disease risk assessment and preventive medicine. Genetics will not be equally informative for everyone, and will not replace these other approaches, but this is actually quite compatible with personalized medicine &#8212; that we should find and leverage the information that has the biggest impact on care at an individual level.

Great Expectations for Personal Genomes

As the series <a href="https://www.pbs.org/wnet/finding-your-roots/" target="_blank" rel="noopener noreferrer">Finding Your Roots with Henry Louis Gates, Jr.</a> begins its 10-week run on PBS, The Blog will feature posts from 23andMe’s <a href="../2012/01/22/new-23andme-ancestry-ambassadors-group/">Ancestry Ambassadors</a> featuring their own stories about using DNA to dig into ancestry.
By Tim Janzen, M.D.
My father, Robert Janzen, comes from a long line of hardworking Low German Mennonite farmers. But when 23andMe developed the feature to identify <a href="https://blog.23andme.com/articles/detail-for-ashkenazi-ancestry">Ashkenazi Jewish</a> heritage, I really wanted to determine whether his data suggested any Jewish ancestry. Let me explain.
His Mennonite ancestors were persecuted in the Low Countries – in what is now the Netherlands and Belgium – and in the 1500s they fled to a safer haven in what is now Poland.   After Catherine the Great opened Russia to settlers, his ancestors migrated to South Russia between 1789 and 1819 where they established small villages of Mennonites on the Russian Steppe.   After many
After Catherine the Great opened Russia to settlers, his ancestors migrated to South Russia between 1789 and 1819 where they established small villages of Mennonites on the Russian Steppe.   After many hardships they eventually prospered and developed thriving agricultural colonies that helped transform South Russia into the “breadbasket” of the world before about a third of the Mennonites immigrated to the United States in the 1870s.
The Mennonites who lived in Poland and Russia were an endogamous religious group, meaning they rarely married others who were not adherents to their faith. But there were
<img loading="lazy" decoding="async" class="aligncenter wp-image-11779 size-full" src="http://35.88.189.111/wp-content/uploads/2012/03/Jacob-Peters-and-Helena-Bergman.jpg" alt="" width="221" height="319" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Jacob-Peters-and-Helena-Bergman.jpg 221w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Jacob-Peters-and-Helena-Bergman-208x300.jpg 208w" sizes="auto, (max-width: 221px) 100vw, 221px" />
many exceptions to that practice, and over the centuries a significant number of non-Mennonites joined the Mennonite faith.   Relatives on my father’s mother’s side have said that one of our ancestors was Jewish. My father&#8217;s great uncle Johann Peters conveyed that we descend from a Catholic priest who married a “redheaded Jewess” sometime in the distant past. Who this was we do not know.
According to the historical record between 1750 and 1790 26,000 Jewish followers of Jacob Frank converted to Christianity in Poland. Perhaps my Jewish ancestor was among them. Traditional genealogical tools and family stories helped to identify some possibilities. There was Joseph Nowitzky (1776-1844), whose ancestry is cloaked in mystery.
The Nowitzky name is found among Ashkenazi Jews, and family stories from relatives in Canada said that Joseph Nowitzky was a traveling Jewish salesman whose daughter Maria Nowitzky lived with a Mennonite family and eventually married a son from that family.   But written records from South Russia suggest that Joseph Nowitzky had become a Mennonite by 1801.   He and his family are listed in the major Mennonite censuses from 1801 to 1816. Another relative has heard that we are descended from a woman of Jewish background named Justina von Liechtenstein. So I was faced with a problem many genealogists confront – an end to the paper trail and conflicting family stories. This is where using DNA can help. While any two people’s genomes are 99.5 percent identical, that small bit of difference is incredibly important. It’s what makes each of us unique and it allows genetic genealogists to find relatives and map out information about our ancestry. Fundamentally this comes down to making comparisons, either between individuals to see how closely they are related, or comparing an individual to groups of individuals to determine common ancestry.
The closer two people are related, the more similar their DNA. The more shared ancestry a person has with a group, the more segments of DNA he or she shares with that group of people. 23andMe compares individuals in their database with its Relative Finder tool and finds potential matches. Using an advanced tool called “Ancestry Finder,” you combine Relative Finder matches with ancestry survey information about the country of origin of their grandparents. This can help tell you more about your ancestry.
You can also tweak the controls and increase or decrease the length of the matching segments, measured in a unit called centimorgans (cMs). When I set the minimum segment size to five cMs, set the number of grandparents from the same country to one and clicked the box to show Ashkenazi Jewish ancestry, Ancestry Finder indicated that between 2 percent and 3.8 percent of my father’s DNA is of Ashkenazi Jewish origin.
Results for my father&#8217;s sisters are similar and the average amount of DNA that is of <a href="https://blog.23andme.com/articles/detail-for-ashkenazi-ancestry">Ashkenazi Jewish</a> origin for my father and his four sisters is 2.27 percent.
<img loading="lazy" decoding="async" class="aligncenter wp-image-11785 size-full" title="Ancestry Finder Display" src="http://35.88.189.111/wp-content/uploads/2012/03/Ancestry-Finder-Display.jpg" alt="" width="468" height="362" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Ancestry-Finder-Display.jpg 468w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Ancestry-Finder-Display-300x232.jpg 300w" sizes="auto, (max-width: 468px) 100vw, 468px" />
I also have data from two distant relatives who descend from my father’s great-great-grandparents, Jacob Peters (b. 1823) and Helena Bergmann (b. 1826).   Helena Bergmann’s mother was Justina Nowitzky, who was a daughter of Joseph Nowitzky.   The Ancestry Finder results indicate that my father’s relatives have an average of 4.35% Ashkenazi Jewish ancestry.   This would be consistent with each of them being approximately 1/32 Ashkenazi Jewish in origin.   The Ancestry Finder results for my father and his sisters would suggest that they are about 1/64 Ashkenazi Jewish in origin. I reviewed the 23andMe results of 33 other Mennonites, as well as the data from my father’s paternal cousins to see if they show any evidence of Ashkenazi Jewish ancestry.   None of them show more than 1 percent Ashkenazi Jewish ancestry.   These results confirm that my father indeed has Ashkenazi Jewish ancestry on his mother&#8217;s side.   I cannot prove at this time that the Ashkenazi Jewish ancestry came through Joseph Nowitzky, but that is a strong possibility.   If the Jewish ancestry wasn’t from Joseph Nowitzky then it could have come from one or more of Jacob Peters’ and Helena Bergmann’s great-grandparents. In any
The Ancestry Finder results for my father and his sisters would suggest that they are about 1/64 Ashkenazi Jewish in origin. I reviewed the 23andMe results of 33 other Mennonites, as well as the data from my father’s paternal cousins to see if they show any evidence of Ashkenazi Jewish ancestry.   None of them show more than 1 percent Ashkenazi Jewish ancestry.   These results confirm that my father indeed has Ashkenazi Jewish ancestry on his mother&#8217;s side.   I cannot prove at this time that the Ashkenazi Jewish ancestry came through Joseph Nowitzky, but that is a strong possibility.   If the Jewish ancestry wasn’t from Joseph Nowitzky then it could have come from one or more of Jacob Peters’ and Helena Bergmann’s great-grandparents. In any case the Ancestry Finder results from 23andMe confirm that my father does have Jewish ancestry as related in the family stories told by his great uncle Johann Peters.   Whether that ancestor was truly a redheaded Jewish woman may never be determined, but the 23andMe Ancestry Finder results certainly provide fascinating confirmation of an interesting family legend!

Tim Janzen is a family practice doctor at South Tabor Family Physicians in Portland, Oregon.   His interest in genealogical research goes back 35 years and he has particularly focused on Mennonite genealogy for the past 15 years.   He has a web site that summarizes many different sources available for Mennonite genealogical research found at <a href="http://www.timjanzen.com/">www.timjanzen.com</a> and has given many presentations about Mennonite genealogy in the United States and Canada.   He is the co-administrator of the Mennonite DNA project at <a href="http://www.mennonitedna.com/">www.mennonitedna.com</a>. He also serves on the ISOGG Y-DNA Haplogroup Tree Committee.   Tim is married to Rachel Janzen and they have four children.

Our Redheaded Jewish Grandmother

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11373" title="researchrevolution-fist" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/researchrevolution-fist-173x300.jpg" alt="" width="173" height="300" />
During Parkinson’s Awareness Month, we’ll be highlighting promising research and new findings in the fight against Parkinson’s.
Along the way we hope to boost enrollment in 23andMe’s <a href="https://www.23andme.com/pd/">Parkinson’s Research Community</a> past 7,500 people, getting us that much closer to our ultimate goal of 10,000 people in the community. Enroll and you’ll be in good company &#8212; boxing legend Muhammad Ali, who has Parkinson’s, <a href="https://www.23andme.com/about/press/pdandali/">recently joined</a> 23andMe’s fight against the disease.
In the coming weeks we’ll be writing about the state of the science in Parkinson’s research, we’ll roll out surprising associations between the disease and certain traits, as well as hear from fascinating people living with the disease. All this is not just to draw attention to genetic research, but also to remind people what it means to live with Parkinson’s.
Each year there are more than 50,000 cases of Parkinson’s diagnosed, adding to the more than one million people living with the disease in the United States. Worldwide there are an estimated four to six million people with Parkinson’s, but taking action now to find a cause and cure for the disease could help not just those with the disease but people who may develop Parkinson’s in the future.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Don&#8217;t Have Parkinson&#8217;s? 
Even if you don’t have Parkinson’s you can help simply by becoming a customer at 23andMe who consents to research and completes surveys. It’s as easy as that. Recently our scientists found a genetic variant that appears to be protective against Parkinson’s, a discovery that wouldn’t have been possible without participation from people who don’t have the disease. Plus, you can learn about your own health and ancestry through the 23andMe Personal Genome Service ®.</div>
Together with our Parkinson’s Research Community, and our partners like<a href="http://www.michaeljfox.org/"> The Michael J. Fox Foundation</a>,<a href="http://www.thepi.org/"> The Parkinson’s Institute</a> and<a href="http://www.parkinson.org/"> The National Parkinson Foundation</a>, 23andMe has already made some promising findings. We’ve discovered <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002141">new genetic associations</a>, replicated 20 other known associations and found a genetic variant that<a href="https://www.23andme.com/about/press/sgk1/"> may be protective</a> against the disease – all that in just a year’s time. This is just the beginning.
As Senator Debbie Stabenow, the co-chair of the Congressional Caucus on Parkinson&#8217;s Disease, said when the Senate <a href="http://www.gpo.gov/fdsys/pkg/CREC-2012-03-29/html/CREC-2012-03-29-pt1-PgS2259.htm" target="_blank" rel="noopener noreferrer">passed a resolution</a> making April &#8220;Parkinson&#8217;s Awareness Month,&#8221; the focus in the coming weeks is meant to &#8220;honor those who live with Parkinson&#8217;s and encourage those conducting the medical research that could hold the key to new breakthrough treatments.&#8221;
You can help. If you have Parkinson’s disease please <a href="https://www.23andme.com/pd">join the 23andMe Parkinson’s Research Community</a> and participate in research that will help speed discoveries. If you know someone with Parkinson’s, let him or her know what we’re doing. Participation is free and you could play a role in making breakthroughs that help you and others with Parkinson’s. There’s also the fun of being part of the broader 23andMe Community, where you can explore your genetics and ancestry.

Parkinson’s Awareness Month 2012

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-9941" 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" />
Six months ago, we announced our Exome 80X pilot project. At 23andMe, we’ve carefully followed every advance in sequencing technologies and read every paper comparing them, waiting for the opportunity to offer a meaningful and affordable option to the consumer market. While other (expensive) offerings have been available for some time, we’ve seen that consumers have been waiting for this opportunity, too.
Today, we delivered our first batch of exome data to the earliest project participants. There are many more still being sequenced and processed, but this is an exciting milestone in the development of our platform. We’re proud to share this moment with our pilot customers, many of whom are experts in their own right, and hope to learn as much in the coming months from their personal experiences with the data as we are learning from ours.
As more participants get their data, we encourage everyone* (exome or not) to join the discussion in our exome community.
* You must be a 23andMe customer to participate in the 23andMe Community forums.

Exomes — The First of Many!

<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 the 23andMe 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" />
This week 23andMe will begin surveying its members to study the biology of sexual orientation.
The survey was prompted in part by customer interest, and fueled by our own scientific curiosity.
<h6>New Survey</h6>
We’re also launching the survey during “Come Out For Health” week, a nationwide event that has for the last nine years sought to promote health in the lesbian, gay, bisexual and transgender community. 
23andMe’s<a href="https://www.23andme.com/research"> unique approach</a> compares genetic data from customers with data from their responses to surveys. This has led to <a href="https://www.23andme.com/about/factoids/">discoveries</a> of genetic associations with common traits. It also allows researchers to find important insights into <a href="../articles/milestones-in-the-fight-against-parkinsons-disease/">more serious conditions like Parkinson’s disease</a>.
Our customers have participated enthusiastically in these research efforts. They submitted more than 35 million responses to surveys with topics as diverse as male fertility, eye color, and reactions to various medications. Customers also have great suggestions for research. The most common request by far is for 23andMe to look at the genetics behind sexual orientation.
<h6>Other Research</h6>
We won’t be the first to look into the topic. However it will be one of the very few genome-wide association studies of sexual orientation ever attempted. In developing the study we worked with multiple Lesbian, Gay, Bisexual and Transgender organizations. We asked that those groups review our survey questions. The groups also helped ensure that our research is conducted in an informed and sensitive manner.
To date heritability studies of identical and non-identical twins have suggested that sexual orientation is the product of both genetic and environmental factors.  A number of linkage studies have also pointed at a possible role for candidate genes located on the X chromosome.
But the strength of that evidence is limited due to conflicting reports and the small sample sizes of those studies. We hope that our work she light on the possible genetic underpinnings of sexual orientation.
<h6>Participation</h6>
Regardless of your sexual orientation, you can participate by taking this survey here.
You must be 18 years or older to participate. Even if you&#8217;ve consented to research with 23andMe in the past you will again have to consent to take this survey.
For questions email <a href="mailto:hpa@23andme.com">hpa@23andme.com</a>.

Do Ask, Do Tell

In the lead up to this week’s arguments at the Supreme Court over the health care reform law, 23andMe got the opinion of two doctors on what’s ailing the country’s medical system.
On separate visits we heard from<a href="http://www.venrock.com/team/#/team/?item=99"> Bob Kocher</a>, an MD and partner at<a href="http://www.venrock.com/?home=1"> Venrock</a> who previously served as a special assistant to the president for Healthcare and Economic Policy and was instrumental in writing the reform law. A few weeks after hearing from Kocher we heard from<a href="http://xnet.kp.org/newscenter/aboutkp/bios/california/pearl.html"> Robert Pearl</a>, also an MD and the Executive Director and CEO of<a href="https://members.kaiserpermanente.org/kpweb/aboutus.do"> The Kaiser Permanente Medical Group</a>. Under Pearl’s leadership Kaiser has been singled out as an example of how to deliver quality affordable health.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11984" title="robert_pearl" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/robert_pearl1-300x290.jpg" alt="" width="300" height="290" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/robert_pearl1-300x290.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/robert_pearl1.jpg 488w" sizes="auto, (max-width: 300px) 100vw, 300px" />Robert Pearl, MD
While Kocher’s and Pearl’s opinions on the law and whether the court will uphold it diverged on some points, both men offered a pretty grim diagnosis if some sort of reform doesn’t go forward. Spending on health care continues to grow more rapidly than the economy as a whole. We now spend about 18 percent of our GDP on health care or   – a larger share than what we spend on manufacturing or retail trade. Back in the early 1960s health care costs were only about 4 percent of GDP. According to Pearl, the rapidly growing costs are on course to cripple the economy.
The irony about all this spending is that while we pay out far more than any other country in the world and more than twice the average for industrialized countries, our<a href="http://blogs.ngm.com/.a/6a00e00982269188330120a7a46406970b-popup"> outcomes are worse</a>. We have lower life expectancy and higher infant mortality rates than countries that spend far less.
Under the current system there aren’t incentives for preventing diseases. All the upside is in treatment or interventions and this drives costs up.
“People have a hard time understanding that we are able to spend less and improve quality,” said Pearl.
He touted Kaiser – the largest medical group in the nation – as a model for better care at less cost.
“If every American got the same care (as they do at Kaiser) there would be 200,000 fewer strokes each year, 75,000 people wouldn’t die of cancer and the mortality rate of AIDS/HIV would be halved; sepsis in hospitals would diminish by 40 percent,” Pearl said.
Some of this is done through better use of data, integrating treatment and preventative care and effectively using technology. He pointed out that in many ways medical care is still a cottage industry in America with doctors providing “piecemeal” services isolated from each other. And he said the system is largely out of touch with the economic efficiencies and technologies we see in other sectors, like banking.  He foresees simple fixes such as the widespread use of electronic records similar to the system used by Kaiser, as well as video-links for some types of doctors visits and the use of more email exchanges between doctors and patients. All these can reduce costs and improve efficiency, he said.
Much of this is in line with Kocher’s prescription for reform.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11979" title="Bob Kocher - Venrock" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-300x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-1024x1024.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-1180x1180.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD.jpg 1395w" sizes="auto, (max-width: 300px) 100vw, 300px" />Bob Kocher, MD
Back in 2009, Kocher and several others authored a report for the Brookings Institute, called “Bending the Cost Curve,” that outlined in detail several strategies for reducing the growth of health care costs. Many of these ideas were incorporated into the health care reform bill.
He outlined for us some of the things he felt were key components of those strategies, foremost of which was moving away from paying by treatments toward a system that bundled payments. For example instead of compensating a hospital for all the different treatments they delivered to a diabetes patient in a year, the hospital would be paid one lump sum for treating everything related to that patient’s care in a year while meeting certain quality metrics.
Both Kocher and Pearl also talked about giving patients access to more information to involve them in their own health decisions and empower them to make choices. Kocher mentioned that giving people more information about the costs and performance of doctors and hospitals empowers them to be better consumers. They’ll know which doctors and hospitals have better outcomes and this will help them make smarter decisions when choosing where they spend their health care dollars. This is also the premise behind the company Castlight Health, where Kocher is on the board of directors.
Both Kocher and Pearl believe that genetics tests like 23andMe’s will play a role in making health care more personal and they believe that the tests will become increasingly more commonplace. But, as Pearl said, there is a long delay in the adoption of new technology within the health care industry. There is also a lot of negative inertia within the system in which the rewards are for treatment not for prevention.
23andMe CEO and co-founder Anne Wojcicki<a href="https://www.huffingtonpost.com/anne-wojcicki/secret-code-dna_b_1187141.html"> recently wrote</a> about this explaining:
“If I develop type 2 diabetes, the whole healthcare system knows how to deal with it, treat and profit from it. But if I discover I am at high risk for type 2 diabetes, I change my diet and exercise patterns and successfully prevent it, no one profits but me. We believe that engaging people in their own health care by giving people access to their genetic information and informing them of how to prevent disease can help.”
While all the attention this week is on the legal questions being argued in front of the Supreme Court, this broader question about how best to lower costs, improve quality and empower people in their own health care isn&#8217;t going to go away any time soon.

A photo of a doctor showing a patient information on a digital tablet.

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