As we’ve mentioned here previously, science can be a slow process. Researchers spend a long time &#8212; sometimes upward of five years &#8212; gathering enough people with a particular disease to study, collecting samples and data from them, analyzing that data, and then publishing the results. Imagine if you had to gather, analyze, and repeat for each different condition or trait. And then to be more confident in each answer, you had to gather, analyze, and repeat again.
You&#8217;d be in the shower for a very long time.
<img loading="lazy" decoding="async" class="alignright wp-image-4013 size-medium" title="geneticresearch7" src="http://35.88.189.111/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg" alt="" width="300" height="230" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7-300x230.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/07/geneticresearch7.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Imagine instead an ever-growing group of people who’ve agreed, through an Institutional Review Board ethics-approved process, to contribute their genetic data in the pursuit of science. These generous people answer surveys regularly on everything from nose shape to drug response to whether they’ve had breast cancer. They do all of that quickly and conveniently, over the web.
We know that this system works. It’s already led to discoveries in the genetics of <a href="https://blog.23andme.com/articles/plos-genetics-23andme/" target="_blank" rel="noopener noreferrer">common traits</a> as well as Parkinson’s disease.
With our latest paper, “<a href="http://dx.plos.org/10.1371/journal.pone.0023473" target="_blank" rel="noopener noreferrer">Efficient Replication of Over 180 Genetic Associations with Self-Reported Medical Data</a>”, we provide the broadest demonstration yet of the power and versatility of 23andMe’s research platform. 

Published today in PLoS ONE, this paper investigates nearly 400 previously reported genetic associations for 50 different conditions in more than 20,000 individuals of European descent. We were able to replicate about 75% of the associations we expected to replicate, proving that we can obtain high quality findings from self-reported data. Our study also serves as the first independent replication for several associations.
Of the associations we did not replicate, it is likely that many factors are at play. Our database, which is population-based and therefore unselected for specific health conditions (with the exception of a few conditions for which we have research initiatives), currently has small numbers of cases for rarer diseases. Some conditions are also more challenging to diagnose or more difficult to self-report accurately. Both of these issues would hinder replication efforts. And although not something we would assume, it is also possible that some of the original findings were false positives.
A genetic association study on such a scale has never before been attempted, but 23andMe’s innovative <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">research platform</a> makes investigating hundreds of genetic factors in dozens of different diseases straightforward. This study took only about a year from start to publish, and we can easily repeat it in the future.
As our database grows, we expect to be able to conduct even bigger studies and make an even greater impact. We recently launched an <a href="https://www.23andme.com/roots" target="_blank" rel="noopener noreferrer">initiative</a> to learn more about the genetics of disease in African Americans, a group that is extremely underrepresented in &#8212; and therefore currently benefiting the least from &#8212; genetic research. 23andMe’s recruitment and research platform is uniquely positioned to advance knowledge in this and other areas that are challenging to investigate using traditional research models.

23andMe Blog

23andMe Blog Team

23andMe replicates over 180 genetic associations

<img decoding="async" class="alignright size-medium wp-image-8663" title="BW_Ash" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/BW_Ash-300x204.jpg" alt="Ashley Gould with her father, Harvey" width="335" />

by Ashley Gould 
Vice President Corporate Development &amp; Chief Legal Officer, 23andMe


Linda Avey and Anne Wojcicki created 23andMe based on a number of visions. They described one of these to me in early 2007, capturing my imagination and playing a large role in my decision to become a member of the 23andMe team. This vision was of a web-based, patient-driven method of conducting research that removes physical boundaries and accelerates the search for answers.
The company has already made this vision a reality by launching <a href="https://www.23andme.com/pd" target="_blank" rel="noopener noreferrer">Parkinson’s</a> and <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">Sarcoma</a> Communities with participant data streaming in daily from dedicated surveys.
I am privileged and excited to announce that 23andMe is launching a <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">Myeloproliferative Neoplasms (MPN) Community</a> for patients with polycythemia vera (PV), essential thrombocythemia (ET), myelofibrosis (primary, post-PV and post-ET myelofibrosis), chronic myelogenous leukemia (CML), mastocytosis, and hypereosinophilic syndrome (HES) / related eosinophil disorders.
This group of rare blood cancers affects production of blood cells in the bone marrow and has no known cure except for blood or marrow transplantation.
My father, Harvey Gould, is now in his 11th  year living with a diagnosis of primary myelofibrosis (PMF), a type of MPN in which the bone marrow makes abnormal blood cells and is replaced by increasing amounts of fibrous scar tissue over time. He is one of a relatively small group of PMF patients in the United States.  
A <a href="https://www.ncbi.nlm.nih.gov/pubmed/10331505" target="_blank" rel="noopener noreferrer">study by the Mayo Clinic</a> reported an incidence of 1.46 per 100,000 persons (1), and a prevalence of 30,000 patients nationwide. It’s also likely that some individuals don’t even know they have the disease because only highly trained specialists can diagnose it. The challenging nature of the disease, low incidence rate, and perhaps under-familiarity with the disease may partly explain why significant resources have not been applied towards identifying both inherited and acquired causes of myelofibrosis or towards development of effective therapies for this chronic and debilitating disease.
In 2005, several groups identified a mutation in the gene JAK2, referred to as JAK2 V617F in several MPNs. It is found in approximately 95% of patients with PV, and 50-60% of patients with ET and PMF.   The JAK2 protein is a signaling protein within cells; when JAK2 is mutated, it contributes to increased signaling in cells and abnormal cell proliferation, a hallmark of these blood cancers.   A number of clinical trials are now in progress with JAK inhibitors targeting the JAK2 protein and related signaling abnormalities in cells.  
These trials, now mostly in patients with myelofibrosis, are listed at <a href="http://www.clinicaltrials.gov/" target="_blank" rel="noopener noreferrer">www.clinicaltrials.gov</a>  (search term &#8220;myelofibrosis&#8221; and &#8220;JAK2&#8221;). These investigational drugs have demonstrated substantial activity shrinking patient spleen size and improving symptoms. These JAK inhibitors have the potential to be the first major class of drugs approved for myelofibrosis. We’re looking to gather valuable information that might be helpful to researchers who are studying these diseases and inspire others to join in.

<img loading="lazy" decoding="async" class="alignleft size-medium wp-image-8667" style="margin-top: 5px;" title="color_Ash" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/color_Ash-300x195.jpg" alt="Ashley and Harvey Gould at Ashley's wedding" width="335" height="218" />

I know from following my father’s struggles that treating myelofibrosis is more of an art than a science, even with highly skilled physicians involved. For more than four years, the drug imatinib (Gleevec ®) seemed to be helping, and then it simply stopped working. Why did it work at all when it does not work for most myelofibrosis patients? Why did it suddenly stop being effective?


A few years ago, while in Ireland, my father collapsed when his hemoglobin suddenly dropped from 13.4 g/dL (almost normal) to 5.4 g/dL (a crisis level). He received twelve units of blood on seven separate days over the course of three weeks, plus another two units after he was able to return to the States. This spurred my father to write to the Taoiseach (Irish Prime Minister), seeking recognition that he’d become a full-blooded Irishman &#8212; his Jewish heritage notwithstanding. (See his <a href="https://blog-api.23andme.com/wp-content/uploads/2011/03/Letter-to-Taoiseach-whiteout.pdf" target="_blank" rel="noopener noreferrer">letter to the Taoiseach</a>, <a href="https://blog-api.23andme.com/wp-content/uploads/2011/03/Letters-to-HLG-whiteout.pdf" target="_blank" rel="noopener noreferrer">correspondence from various offices</a> in the Irish government, and <a href="https://blog-api.23andme.com/wp-content/uploads/2011/03/Reply-from-Tanaiste-whiteout.pdf" target="_blank" rel="noopener noreferrer">the final verdict</a> from the Tanaiste).


While my father’s gift for humor has helped us all cope, we still have many unanswered questions stemming from his experience.   If we knew more about the genetic components of the disease, would researchers be able to find causes and cures? Could doctors better anticipate the progression of the disease? Could doctors better tailor drugs to their patients? Responses to these questions remain unknown for many of the myeloproliferative neoplasms. It’s our search for answers that has lead to the formation of 23andMe’s MPN Community.
We are honored to welcome Drs. Jason Gotlib and James Zehnder from the Stanford University School of Medicine and Stanford Cancer Center, as expert advisors and research collaborators in this effort. Dr. Gotlib brings his experience in clinical hematology and leadership in numerous phase I/II trials of novel therapies for MPNs. Dr. Zehnder, Professor in the Division of Hematology and Department of Pathology, contributes expertise in the realm of MPN molecular diagnostics. Their complementary skill sets will be an asset to the 23andMe program and MPN research efforts.
W
atch the video below to learn more about my father’s story and help by joining our research community.
<iframe loading="lazy" title="Join 23andMe&#039;s Myeloproliferative Neoplasms Research Community" width="500" height="375" src="https://www.youtube.com/embed/r-Yjl73EJHw?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>
Please note: 23andMe filmed this video when we planned to launch a more narrowly focused Myelofibrosis Community. Based upon valuable input from our scientific advisory team, 23andMe has since decided to expand the scope of our community to include all myeloproliferative neoplasms, including myelofibrosis (primary, post-PV, and post-ET myelofibrosis), polycythemia vera (PV), essential thrombocythemia (ET), CML, mastocytosis, as well as hypereosinophilic syndrome (HES) and related eosinophil disorders. 


Our initial goal is to enroll approximately 1,000 patients diagnosed with a spectrum of myeloproliferative neoplasms who consent to participate in our research and who agree to complete surveys about their experiences. Patients will be asked to provide a sample of saliva (kits send to the patient&#8217;s address) to test their DNA for potential inherited predispositions to MPNs, and to assess whether the DNA results correlate with certain survey findings.  As our <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">MPN Community page</a>  describes in more detail, participants will receive complimentary access to 23andMe’s full Personal Genome Service ®. If you are someone who has been diagnosed with a myeloproliferative neoplasm, follow this link to learn more about joining our MPN Research Community and <a href="https://www.23andme.com/mpn" target="_blank" rel="noopener noreferrer">sign up</a>.
If you know someone who you think might meet the criteria, please share this information with them.
If you are not a patient with myelofibrosis or other MPN diagnosis, you can still help by <a href="https://www.23andme.com/store" target="_blank" rel="noopener noreferrer">becoming a 23andMe customer</a> and opting in to participate in our <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">23andWe</a> research program. Having genetic information for generally healthy individuals plays an important role in research as well. Everyone has the opportunity to participate and support research that can lead to new treatments and possible cures.
  
(1) Mesa R, Silverstein M, Jacobson, Wollan P, Tefferi A.   Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted county study, 1976-1995.
Gleevec ® is the trademark of Novartis Pharmaceuticals Corporation. 23andMe and Personal Genome Service are trademarks of 23andMe.

My Father, Myelofibrosis, and Me

A recent article in Wired Magazine highlighted how the genome revolution has been skipping most people in the world: 96 percent of participants in recent genomic studies trace most of their ancestry to Europe.
<h2>Why?</h2>
Statistical analysis is more straightforward in groups tracing ancestry to just one continental region, so fewer individuals are needed to make discoveries. Although African Americans typically trace about 20% of their ancestry to Europe, studies to verify previous findings in this population have not been done for many diseases. Our understanding of how DNA influences disease risk in people with primarily non-European ancestry has much catching up to do.
23andMe hopes to bridge this growing divide through Roots into the Future, a research initiative addressing the needs of the African American community.
<h2>Accelerate Research</h2>
Our partners in the research initiative include Dr. Henry Louis Gates and the W.E.B. Du Bois Institute at Harvard, as well as advisors from academia, industry, and the 23andMe community. To rapidly accelerate genetic research in the African American community, we aim to enroll 10,000 participants who self-identify as African American, Black, or African.
Roots into the Future will help determine how genetic factors contribute to disease development in this population. Which genetic associations identified in Europeans also apply to African Americans? Can we discover new genetic markers linked to conditions of particular relevance to the African American community, such as diabetes, prostate cancer, and heart disease?
The initiative aligns with 23andMe’s broader mission of empowering individuals to understand their genetic data. And 23andMe’s unique web-based research platform can accelerate critical research in this community.
<h2>Participation</h2>
Project participants will receive free access to their personal genetic data used for the research and health and ancestry interpretations of the data. As the project progresses, participants can expect additional relevant reports and features.
Roots into the Future will launch at the end of July at the National Urban League&#8217;s annual conference in Boston.
To learn more about the project or to sign up to be notified when registration becomes more broadly available, <a href="https://www.23andme.com/roots/">go to our Roots Into the Future page</a>.
<iframe loading="lazy" title="Roots into the Future" width="500" height="281" src="https://www.youtube.com/embed/kTYFNwxl3Pw?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" referrerpolicy="strict-origin-when-cross-origin" allowfullscreen></iframe>

A New 23andMe Research Initiative For African Americans

Last summer, a <a href="http://www.sciencemag.org/content/early/2011/07/20/science.1190532" target="_blank" rel="noopener">study</a> published in the journal Science on the genetics of human longevity made a splash when the authors claimed that they had identified a genetic signature that could predict with 77% accuracy whether someone would live past 100. The bold findings immediately came under fire from other geneticists and scientists who read the paper and found the study&#8217;s methodological rigor lacking. One of 23andMe&#8217;s own researchers David Hinds published a <a href="https://blog.23andme.com/articles/snpwatch-uncertainty-surrounds-longevity-gwas/" target="_blank" rel="noopener">detailed critique</a> on this blog soon after, accompanied by analyses done using 23andMe&#8217;s own database.
After more than a year, the authors have <a href="http://www.sciencemag.org/content/333/6041/404.1" target="_blank" rel="noopener">formally retracted</a> the longevity study from the scientific record. An independent lab had redone the experiment and the analyses to eliminate the major concerns brought up by the study&#8217;s critics, but Science decided that the resubmitted work no longer met its standards for genome-wide association studies.
Read more at <a href="https://www.wired.com/wiredscience/2011/07/longevity-genetics-study-retracted-from-science/" target="_blank" rel="noopener">Genetic Future</a>, <a href="http://retractionwatch.wordpress.com/2011/07/21/sebastiani-group-retracts-genetics-of-aging-study-from-science/" target="_blank" rel="noopener">Retraction Watch</a>, or <a href="https://www.nature.com/news/2011/110721/full/news.2011.429.html" target="_blank" rel="noopener">Nature News</a>.

Controversial Longevity Paper Formally Retracted

<img loading="lazy" decoding="async" class="alignright wp-image-1902 size-medium" title="brain" src="http://35.88.189.111/wp-content/uploads/2008/11/alzheimers-300x214.jpg" alt="" width="300" height="214" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/alzheimers-300x214.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2008/11/alzheimers.jpg 435w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Progressive supranuclear palsy (PSP) is a rare movement disorder caused by damage to certain areas of the brain. People with PSP experience increasing difficulty balancing and walking and suffer from frequent falls, in addition to varying vision, mood, and cognitive problems. PSP is similar to Parkinson’s disease but is much rarer &#8212; about 20,000 people in the United States are currently diagnosed with PSP.
As with Parkinson’s disease, the development of PSP is complex and influenced by many genetic and environmental factors. One genetic factor in particular, a variant in the MAPT gene, has been repeatedly linked to the disease. The MAPT gene codes for a protein called tau that is found in abnormally high amounts in the neurons of people with PSP. Scientists believe there are multiple factors interacting in this region of the genome that affect PSP development, but little is known about this interaction and how other genetic variation might contribute to PSP risk.
To discover common genetic variants potentially influencing risk for this disease, an international team of researchers led by Gunter HÃ¶glinger of Philipps-Universitat in Germany studied more than 2,000 individuals of European descent diagnosed with PSP, comparing their DNA to that of nearly 7,000 healthy European individuals. The results, published last month in the journal <a href="https://www.nature.com/ng/journal/v43/n7/abs/ng.859.html" target="_blank" rel="noopener">Nature Genetics</a>, reported several SNPs associated with the disease.
One of the SNPs reported by HÃ¶glinger&#8217;s team is located in MAPT and is closely linked to the already well-established variant for PSP risk. In this study, each copy of the G version of this SNP was associated with about 5.5 times lower odds of the disease. The researchers suggest that much of this effect is due to the SNP’s strong correlation with the previously known MAPT variant.
In addition to the strong association at MAPT, the researchers identified three other genetic variants with smaller effects on PSP risk located in the STX6, EIF2AK3, and MOBP genes. These genes have intriguing connections to PSP and other neurodegenerative diseases but further research is needed to determine the exact roles they play in the development of these conditions.

Genetic Variants Linked to Progressive Supranuclear Palsy

<img loading="lazy" decoding="async" class="alignright wp-image-6398 size-medium" title="sarcoma-large" src="http://35.88.189.111/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg" alt="Sarcoma Research logo" width="300" height="245" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg 315w" sizes="auto, (max-width: 300px) 100vw, 300px" />
[Update: View a video recap of Sarcoma Community Night at <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">https://www.23andme.com/sarcoma/</a>]
Three.
That was the average number of patients enrolled in studies for sarcoma four years ago when Nathalie Criou, a sarcoma cancer survivor and founder of <a href="http://www.beatsarcoma.org/" target="_blank" rel="noopener">Beat Sarcoma</a>, looked around for new information about her disease.
Criou’s story, told at 23andMe’s headquarters for Sarcoma Community Night on a rainy Tuesday night last week, was a sobering reminder of how challenging research has been into this rare form of cancer. Earlier in the evening, Stanford oncologist and researcher Dr. Kristen Ganjoo told the audience about promising sarcoma treatments, but she also explained that even now clinical trials to approve new drugs for sarcoma routinely shut down simply because they can’t find enough people to sign up.
To the almost two dozen people affected by sarcoma gathered that night, these stories were all too familiar. Sarcoma is rare &#8212; only about 12,000 people are diagnosed with it in the United States each year &#8212; and extremely diverse, with about 50 distinct subtypes. Each type often progresses differently and can require individualized approaches to therapy, making developing effective treatments for sarcomas very difficult.
“You raise your hand and say ‘does anyone else have this?’ and no one else raises their hand,” explained Carole, who has a rare sub-type of sarcoma.
But what if there was a way to bring together sarcoma patients from far and wide and involve them in research into their disease? For Criou, an advocate and former patient, hearing about 23andMe’s <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener">Sarcoma research initiative</a> offered something new.
“We’re talking about a huge difference &#8212; we’re talking three [people], or 550,” Criou explained, comparing her numbers from four years ago to the current number of individuals enrolled in 23andMe’s Sarcoma research community. “And it’s 550 people that can come back, that more than one question can be sent to.” But Criou also sees this initiative having a much broader impact.
<img decoding="async" class="alignleft size-full wp-image-9387" title="beat_sarcoma" src="https://blog-api.23andme.com/wp-content/uploads/2011/07/beat_sarcoma.gif" alt="" width="215" />
“I really see this as a great platform for other rare cancers, other rare diseases, and in fact, any disease &#8212; it doesn’t have to be rare,” said Criou. “If we can show that a community like sarcoma &#8212; which is probably one of the toughest challenges from a research perspective &#8212; can use that tool&#8230; hopefully it will create a trend for sarcoma, and for other diseases.”
This is the hope for many who have joined 23andMe’s Sarcoma research initiative. While it still has a lot to prove, the initiative has brought together a community of patients who for years felt like they’d been abandoned by researchers and funders.
“When I was first diagnosed, the message I got was ‘there’s nothing anyone can do and you’re in big, big trouble,’” said Robin, a sarcoma survivor. “That was seven years ago and I’m still here. I feel really grateful, actually, that a community is pulling together to try and take a look at this.”
Even though Robin is currently sarcoma-free, she’s joining because she knows how rare sarcoma is and the challenges it presents to researchers. “If someone is willing to study us, I’m more than happy to be involved. It’s such a rare thing that there’s probably not enough money in it to have motivated people to study it in the past, and very little is known about it. I’m a survivor, and I’m here to participate and see what I can do.”
<img decoding="async" class="alignleft size-medium wp-image-9388" title="sarcoma_alliance" src="https://blog-api.23andme.com/wp-content/uploads/2011/07/sarcoma_alliance-217x300.jpg" alt="" width="120" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/07/sarcoma_alliance-217x300.jpg 217w, https://blogcms.23andme.com/wp-content/uploads/2011/07/sarcoma_alliance.jpg 225w" sizes="(max-width: 217px) 100vw, 217px" />
And the initiative doesn’t just offer hope for new research, it also allows interaction between patients and researchers. Indeed, after all of the panelists had spoken the room came alive with questions. Sometimes, the answers came not just from the expert panel, which included UCSF cancer surgeon Dr. Eric Nakakura and Arthur Beckert of the <a href="http://www.sarcomaalliance.org/main.shtml" target="_blank" rel="noopener">Sarcoma Alliance</a> in addition to Criou and Dr. Ganjoo, but from others in the audience. People asked about the latest research, gave tips on where to find clinical trials, and brainstormed creative ways to leverage this new sarcoma community.
It was perhaps this last activity that best communicated the power and potential of 23andMe’s research community. Everyone was engaged by the possibility of enabling individuals to contribute directly to research &#8212; not just once, but continuously, in an evolving, collaborative, and exploratory process.
<img decoding="async" style="margin-top: 5px;" src="https://lh5.googleusercontent.com/-j_CwEt8qQQFptWDmv1p49_soby0YSFsRKLJW1DZvGmaGeysr-uf7HkpnFiu5iJJZzhSX1VXtPgJw_jQqj2TzB1cLlmKN3KpOW1w2Ko509_Gn7pbSrE" alt="" width="298px" height="193px" />
In her comments, 23andMe co-founder and CEO Anne Wojcicki emphasized the collaborative nature of 23andMe’s research communities. “The whole purpose of 23andMe is to give everybody who has something they’re passionate about a platform, and use what’s fundamentally their own to make a difference in research and learn things about themselves that are going to be meaningful. It’s about ‘how can we all come together and do something so it’s going to change things for ourselves, or change it for our children, or others out there?’ Our goal is to really be that partnership between you and the entire research world, so we can move things forward much faster.”
Wojcicki also acknowledged the non-traditional approach 23andMe is taking. “We want to do things that are ultimately going to help researchers, but at the same time we’re definitely shaking things up a little bit!”
Sarcoma patients and survivors weren’t the only ones who appreciated this vision. As Brian, a family friend of a woman diagnosed with uterine leiomyosarcoma, put it, “you don’t have to be part of some subset or some disease &#8212; this type of research can be for everybody.”
“It’s exactly what I’ve been hoping for for ten years,” said Suzy, a 10-year leiomyosarcoma survivor. “I’m glad that there’s more community and more people coming together because there’s a lot of information to be shared. I’m hopeful that with strength in numbers, if we can get people to sign up and we can get information&#8230; for people like us, with rare cancers, this is what we need.”
To learn more about 23andMe’s Sarcoma research community or to join, please visit <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">https://www.23andme.com/sarcoma</a>. A video recap of Sarcoma Community Night is also available at that link.

A Recipe for Disease Research: Give People Tools, Add Passion, and Shake

<img decoding="async" class="alignright size-full wp-image-9364" title="Biopunk Book Cover" src="https://blog-api.23andme.com/wp-content/uploads/2011/06/biopunk-art3.jpg" alt="" width="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/06/biopunk-art3.jpg 332w, https://blogcms.23andme.com/wp-content/uploads/2011/06/biopunk-art3-200x300.jpg 200w" sizes="(max-width: 332px) 100vw, 332px" />

Marcus Wohlsen is on to something.
An Associated Press science and biotechnology writer, Wohlsen is the author of the book BioPunk: DIY Scientists Hack the Software of Life.


The book, which came out in April, outlines the parallels between the current community of upstart amateur scientists working in makeshift kitchen labs and garages with the early years of the personal computer and the birth of the dotcom industry.


The conceit of the book is that just as Steve Jobs and Steve Wozniak – geeked-out members of the <a href="http://www.atariarchives.org/deli/homebrew_and_how_the_apple.php">Homebrew Computer Club</a> – could assemble off-the-shelf components in a garage in Cupertino and launch Apple Computers, some tattooed punk scientists may soon unveil a new biotechnology breakthrough at Maker Faire.


Well, maybe.
There is no doubt that the <a href="http://diygenomics.org/">tools</a> needed to make big leaps in innovation in biotechnology are more readily available to the Everyman, or Everywoman.
This has happened in an area that is progressing like Moore’s law on steroids, where instead of computer chips doubling their processing power every two years, genome sequencers are doubling in performance every six months.
It’s actually a weakness of the book that in some sections it already appears dated. There are a few pages that mention 23andMe and other direct-to-consumer genetics companies that feel like an old newspaper clipping. A <a href="http://www.businessweek.com/magazine/content/11_24/b4232090972319.htm">book review </a>by Daniel Grushkin nailed the point home by saying that Wohlsen finished his reporting too soon.
But that rapid change and progress is part of what has enthralled many enthusiasts in the movement, when it feels as if mankind is on the verge of a major leap forward in understanding the basic code of life.
It’s here that Wohlsen’s book is especially powerful. He has captured a moment and tapped into the energy of a truly driven tribe of citizen scientists.
Wohlsen uses a grab bag of characters as diverse as <a href="http://openwetware.org/wiki/User:Kaull">Kay Aull</a>, a MIT graduate in bioengineering, who developed a procedure in her apartment that diagnosed her dad’s hemochromatosis.
Then there’s Tito Jankowski and Josh Perfetto, two guys who built a <a href="http://openpcr.org//">cheap kit for a polymerase chain reaction</a> (PCR). PCR amplifies DNA for sequencing and is one of the most useful instruments for molecular biology. Wohlson spends some time with Eri Gentry and John Schloendorn, who studied cancer cells in their kitchen. Gentry formed the non-profit <a href="https://www.facebook.com/BioCurious">BioCurious</a>, a sort of co-op lab space set to open in Mountain View. The two also have their hands in several other endeavors involved in pharmaceuticals, health and personal genetics.


While all these people are working outside traditional labs, in most cases they also come from traditional science backgrounds. They began to dabble outside the those confines because they were stymied in some ways from doing what they want. In the process of hacking and tinkering with how science is traditionally done, they’ve invited anyone else interested to come along for the ride.
“The plummeting costs of enabling technologies has brought meaningful biological research back within reach of the independent citizen scientist. From Bio-Art to BioFuels, the wave of next generation biotech applications is set to transform our culture and economy.”


That description of BioCurious, posted on Hackerspaces, is a good outline of Wohlsen’s thesis. Wohlsen sees the collection of people he’s profiled in BioPunk as the vanguard of a movement for a more open type of science, that is driven less by profit than by simple curiosity and a passion for learning.

Biopunks, Science and Discovery

By Angela Liu and Shirley Wu



Nearly one in six men in the United States develops prostate cancer. This sobering statistic has spurred tremendous advances in research over the years, such that prostate cancer is now one of the most treatable and survivable cancers.



But there is still much we don’t know about prostate cancer and the factors leading to its development. These factors include non-genetic factors such as diet and lifestyle but also include genetic factors &#8212; variants of DNA that differ between individuals and are associated with susceptibility to the disease.



With new ways of probing the human genome, our knowledge of the genetic factors contributing to the risk of prostate cancer is growing. Researchers have identified dozens of genetic associations over the last five years related to prostate cancer. But is the current pace of research enough?







<h2 class="wp-block-heading" id="h-uneven-rates-of-prostate-cancer">Uneven Rates of Prostate Cancer</h2>



We would say no. Consider this: <a href="http://www.cancer.gov/cancertopics/factsheet/disparities/cancer-health-disparities#9" target="_blank" rel="noopener">rates of prostate cancer</a> in African American men are 1.5 to 3 times higher than for men with non-African ancestry, and African Americans have a two-fold higher mortality rate from the disease compared to European Americans. Non-genetic factors surely play a role in these differences, and chances are that genetic factors contribute, too. However, nearly all of the genetic research in prostate cancer has been in populations of European descent. Our knowledge of prostate cancer genetics in African ancestry individuals specifically &#8212; a group especially affected by the disease &#8212; is progressing much too slowly.



The few studies on African Americans have mostly been unable to confirm genetic associations identified in European populations, suggesting that different genetic factors influence risk in these two groups.



<h2 class="wp-block-heading" id="h-research-in-non-european-populations">Research in Non-European Populations</h2>



A large study published recently in PLoS Genetics showed systematically that genetic risk variants identified in Europeans are not representative of African Americans. Looking at more than 10,000 African American men, these researchers found that only half of the European risk variants were associated with prostate cancer in their study group. Even when the same region of the genome was associated with prostate cancer in both populations, the exact location or variant often differed.



As the PLoS study illustrates, findings from one population can’t simply be applied to other populations, emphasizing the need for more research in different populations.



<a href="https://www.nature.com/ng/journal/v43/n6/full/ng.839.html" target="_blank" rel="noopener">A recent study</a> published in Nature Genetics, identifying a new risk variant associated with prostate cancer in African Americans, is an essential step in the right direction, but even more studies are needed. The incredibly high rate of prostate cancer in African American men illustrates how crucial it is to deepen our understanding of prostate cancer, specifically in African Americans. Changing research generally to focus on more diverse groups has the potential to improve how we treat and prevent disease in all populations.



<h2 class="wp-block-heading" id="h-diversity-in-research">Diversity in Research</h2>



At 23andMe, we recognize that some of the biggest impacts in healthcare will come from changing how research is done. We recognize areas where traditional research models are failing and are committed to engaging patients, scientists, and everyday consumers to make a difference.



23andMe’s innovative research platform has already transformed research in &nbsp;Parkinson’s disease, and it can do the same to accelerate research in diverse populations. Keep looking for upcoming projects from 23andMe that focus on research where it is needed most!

Ethnicity Matters in Research: A Case Study in Prostate Cancer

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-9320" title="Blaine Bettinger's Facebook Page" src="https://blog-api.23andme.com/wp-content/uploads/2011/06/Blaine-Bettingers-Facebook-Page-300x272.jpg" alt="" width="300" height="272" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/06/Blaine-Bettingers-Facebook-Page-300x272.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/06/Blaine-Bettingers-Facebook-Page.jpg 720w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Whether they’re over-sharing or taking bold action in the name of science, people who willingly make their genome public are pushing researchers, policy-makers and others to tackle hefty issues with no readymade answers.
At Cambridge Healthtech Institute’s second annual <a href="http://www.healthtech.com/bsq" target="_blank" rel="noopener noreferrer">“Beyond Sequencing”</a> conference in San Francisco this week, a group of   panelists attempted to address the impact on science and society “When People Share Their Genomes on Facebook.”
Granted, people are not posting their DNA sequences en masse on their Facebook walls or deciding who to friend based on whether their haplogroup is <a href="https://en.wikipedia.org/wiki/Haplogroup_J1c3_%28Y-DNA%29" target="_blank" rel="noopener noreferrer">J1c</a>. But, starting with George Church’s<a href="http://www.personalgenomes.org/" target="_blank" rel="noopener noreferrer"> Personal Genome Project</a>, a growing list (here, here and <a href="http://www.snpedia.com/index.php/Genomes" target="_blank" rel="noopener noreferrer">here</a>) of people have decided to make their genetic information public. And yes, some have <a href="https://www.facebook.com/#%21/notes/blaine-t-bettinger/my-genome-online-a-challenge-to-you/10150208400822377" target="_blank" rel="noopener noreferrer">posted</a> their results on Facebook. Blaine T. Bettinger took his 23andMe raw data and made it available for download. He has even challenged others to do the same in the hope that it will lead to new discoveries, or trigger useful discussions about genetics.
<a href="http://authors.simonandschuster.com/Kevin-Davies/1879979/biography" target="_blank" rel="noopener noreferrer">Kevin Davies</a>, editor in chief of Bio-IT World and the author of “The $1,000 Genome,” called these folks “genome pioneers.” The idea is that any new concept needs people who are willing to take risks others wouldn’t in the name of making breakthroughs. You need someone like a <a href="http://www.chuckyeager.com/#/YEAGER_ADVENTURE/1945-1947_MACH_BUSTER%29" target="_blank" rel="noopener noreferrer">Chuck Yeager</a> to seal himself into a Bell X-1 aircraft and risk it all to get it to Mach 1 so that future generations can enjoy the benefits of jet flight while only having to endure the perils of airplane food and TSA checkpoints.
Jonathan Eisen, an evolutionary biologist at UC Davis Department of Medical Microbiology and Immunology and an Adjunct Scientist at the Joint Genome Institute, sees these pioneers more as part of what he calls the “open science” movement. These are individuals – often do-it-yourselfers, citizen scientists, or BioPunks – with  a belief that freeing up information for those working outside traditional labs will lead to discovery.
Part of the panel discussion also looked at what those pioneers are risking when they make their genomes public.
<a href="http://law.wisc.edu/profiles/pnossorio@wisc.edu" target="_blank" rel="noopener noreferrer">Pilar Ossorio</a>, an associate professor of law and bioethics at the University of Wisconsin at Madison, warned that a person who puts their genetic information into the public domain cedes control over how that data is used. While laws like the <a href="https://www.genome.gov/24519851" target="_blank" rel="noopener noreferrer">Genetic Information Nondiscrimination Act</a> (GINA) prevent discrimination by employers or health  insurance companies based on genetic information there’s nothing to “regulate things like stigmatization,&#8221; Ossorio said.
As with a lot of discussions regarding genetic science there was a moment of science fiction when one panelist raised the specter of a dystopian future and the film <a href="https://en.wikipedia.org/wiki/Gattaca" target="_blank" rel="noopener noreferrer">Gattaca</a>. But Kamlesh “Kam” Patel, of Sandia National Laboratories, quickly turned to a more optimistic future. He said social media could help people personalize their health care and connect to like-minded communities for both information and researech into their health concerns. “It’s the interconnectivity that these social media giants provide us,” said Patel, who envisioned a time when his doctor could monitor his health progress through his Facebook page.
At 23andMe we give people access to their genetic information while protecting their privacy, but we also empower them to connect with a broader community.
“That’s part of the success of the 23andMe model that it is a limited distribution of that information,” said UC Davis’ Eisen.
But 23andMe was also founded on the idea that engaging people in their own genetic exploration could accelerate research.
Bio-IT World’s Davies singled out 23andMe as the kind of model that allowed customers to participate in a “thriving social network” while maintaining their privacy. He pointed to 23andMe’s <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson’s Disease Research Initaitive</a>, which has enrolled more than 5,000 participants and has already identified two new genetic variants associated with the disease in addition to confirming 20 others.
“They’re seeing the value of crowd sourcing,” he said. “It’s phenomenally exciting.”

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