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23andMe launches myeloproliferative neoplasms research initiative

Mountain View, CA August 3, 2011 23andMe, Inc., an industry leader in personal genetics, announced today that it has launched a Myeloproliferative Neoplasms (MPN) research initiative. The first-of-its-kind program will focus on enrolling 1,000 individuals with these rare blood cancers in the 23andMe Personal Genome Service and its new MPN community. MPNs are a group of blood and bone marrow diseases that are characterized by abnormal levels of myeloid cells (red blood cells, white blood cells, and platelets). The MPN cohort will allow 23andMe to both advance research and create an online forum dedicated to connecting individuals and families affected by these diseases.

Dr. Jason Gotlib and Dr. James Zehnder from the Stanford University School of Medicine and Stanford Cancer Center, serve as expert advisors and research collaborators. 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 Department of Hematology and Department of Pathology, contributes his expertise in MPN molecular diagnostics.

"For people living with MPNs, 23andMe's initiative creates a community of self advocacy by encouraging large numbers of patients to directly engage in research," said Dr. Gotlib. "The combination of survey data on MPN diagnosis, symptom burden and treatment, in conjunction with evaluation of inherited genetic factors, will accelerate understanding of these diseases at both the individual and population level."

This group of rare blood cancers includes myelofibrosis, polycythemia vera, essential thrombocythemia, and chronic myelogenous leukemia as the most common types. The cause of MPN is not known. Although these conditions are orphan diseases, taken together, approximately 5,000-10,000 patients are diagnosed with these diseases yearly in the United States.

"I joined 23andMe in early 2007 with great excitement over and belief in the web-based research model envisioned by our co-founders and the hope that such a model could significantly advance research underfunded for rare diseases," explained 23andMe VP, Corporate Development and Chief Legal Officer Ashley Gould. "Myelofibrosis has touched my family, and if our research helps physicians improve quality of life for MPN patients, then this community will have been a resounding success."

The MPN initiative takes advantage of the 23andMe web-based platform which is a unique approach to study rare and complex diseases that are difficult to assess using traditional research mechanisms. By using the Internet to query and interact with the research cohort, this platform significantly increases the efficiency and reduces the cost of recruiting participants and conducting research. The broad reach of the web allows geographically disperse individuals who are not near research centers be part of the program. Existing customers of 23andMe, who are not MPN patients, also contribute to this research by participating as healthy controls, a built-in efficiency that lowers the overall cost. Currently, more than 76,000 of 23andMe's 100,000+ customers have consented for their DNA data to be utilized in such research efforts.

23andMe will engage the MPN community members in a series of data gathering surveys to be released over several months. The initial survey focuses on an individual's family history and MPN diagnosis, including the type of disease, who made the diagnosis, how the diagnosis was confirmed, how it progressed, as well as how and whether any previous genetic testing was conducted in relation to MPNs (such as genetic mutations). The follow up survey includes questions pertaining to MPN symptoms and responses to medications used for the different MPN subtypes. There are currently no FDA-approved treatments for MPN, however physicians often prescribe medications "off-label" and try many different options to see what works for their patients.

MPN patients may enroll directly at, and 23andMe encourages physicians treating MPN patients to refer them to participate. 23andMe is also engaging MPN advocacy organizations and web platforms, encouraging their audiences to participate as well.

The cost of genotyping the MPN participants is fully underwritten and members of the 23andMe MPN community will have access to the exact same data, information, tools, and 23andMe web resources as individuals who have paid the full commercial price with lifetime subscription of $399 for the 23andMe Personal Genome Service.

The 23andMe MPN community is modeled on its highly successful Parkinson's Disease (PD) and Sarcoma communities. In two years, the PD initiative has not only recruited and analyzed over 5000 participants, but has led to published research findings including two novel gene associations for PD. In just over a year, the Sarcoma initiative has recruited and analyzed data from over 500 participants, proving to be a valuable research platform for rare disease communities. PD and Sarcoma research efforts are ongoing.


Contact: Jane E. Rubinstein
23andMe Inc.

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