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Despite FDA Regulation, 23andMe Continues Consumer-driven Research Focus to Grow Business

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Originally published Aug. 19. Additional reporting by Molika Ashford.

NEW YORK (GenomeWeb) – While genomics firm 23andMe works with the US Food and Drug Administration to meet regulatory requirements for its roughly 200 health-related genetic test reports, the company's sustained focus on conducting consumer-driven research is enabling its continued growth.

On Nov. 22, 2013, the FDA sent a warning letter asking 23andMe to stop marketing directly to consumers its health-related genetic tests without the agency's approval or clearance. After that, the company decided to only provide ancestry testing and raw (or uninterpreted) genomic data to new customers, while maintaining health-related test reports for those who bought a test before Nov. 22.

"One of the things that the FDA was really clear about with us in their communication was that the research side of things was unaffected by the letter we received," Emily Drabant Conley, director of business development at 23andMe, told PGx Reporter. "The research focus for our company has always been a part of our mission, which has meant working with research entities like pharmaceutical companies. So, that's something we plan to absolutely continue doing."

Toward this end, the company received a $1.4 million funding boost from the NIH at the end of July that 23andMe plans to put toward building a platform to better connect researchers and consumers. Specifically, the company will use the grant to enable researchers to access aggregate de-identified data from its database, improve web-based surveys, and refine the use and analysis of whole-genome sequencing data to discover even rarer markers associated with disease.

Moreover, 23andMe also recently publicized a project with Pfizer to conduct a 10,000-patient study, through which the partners aim to learn more about the genetic links to inflammatory bowel disease (IBD). Pfizer and 23andMe are keeping the financial terms of their deal under wraps, but it's likely that 23andMe is slated to receive contract revenue through this project. Dean Mastrojohn, Pfizer's director of global media relations, told PGx Reporter that in return for its "sponsorship" of the research initiative, researchers at the drug company will gain access to "23andme resources dedicated to building the IBD patient cohort."

Both 23andMe and Pfizer declined to discuss how much the study would cost and how it was being funded. 23andMe will be in charge of executing the project, including gaining institutional review board approval; developing the enrollment forms and patient surveys; screening, recruiting, and genotyping patients; as well as data management and statistical analysis. Importantly for 23andMe's business, with the draw of consumer-driven research, the privately held firm will be able to continue to grow the pool of consumers tested on its Personal Genome Service, adding to its database of genotype-phenotype associations.

While Conley acknowledged that the company's research efforts do offer 23andMe a way to "bring in new individuals," she emphasized that that's not the reason why the firm engaged in the partnership with Pfizer. The burden of regulatory action hasn't changed or necessarily deepened 23andMe's longstanding commitment to research, Conley maintained.

At the same time, she acknowledged that the firm's rate of new customer acquisition has slowed somewhat following FDA's restrictions on its ability to market health-related reports. "However, we are still continuing to … bring new people into the database," Conley said, noting that 23andMe has to date genotyped more than 700,000 people on the Personal Genome Service. Back in November, around the time the FDA sent its warning letter, 23andMe had 550,000 genotyped customers. "So, things are still absolutely growing for us," she said.

Underlying 23andMe's Personal Genome Service test is Illumina's HumanOmniExpress-24 chip, which analyzes hundreds of thousands of SNPs in the human genome, including 30,000 SNPs that 23andMe has culled from the published literature. The 10,000 new patients enrolled in the IBD study with Pfizer will be genotyped for free with this same chip, making them de facto 23andMe customers. As with all new customers of 23andMe, paying and non-paying, these research participants will have access to their raw genomic data and ancestry results.

Additionally, Conley noted that study participants will receive updates on any findings from 23andMe's work with Pfizer through newsletters and emails. These newly recruited patients will have to sign a consent agreement specific to the IBD research effort, enabling 23andMe to share the data with Pfizer.

Before embarking on this large IBD project, 23andMe launched a study several years ago to probe the genetic characteristics underlying Parkinson's disease through a collaboration with the Michael J. Fox Foundation, the National Parkinson Foundation, and the Parkinson's Institute and Clinical Center. For that project, in under four years, 23andMe enrolled more than 10,000 Parkinson's disease patients in a crowd-sourced research study that ultimately uncovered two new genes associated with the illness.

For the latest effort around IBD, the company is also aiming to enroll 10,000 subjects, which statistical calculations suggest will enable researchers to pick up genetic effects that are rare or small but meaningful. "With a disease like IBD, where the symptomatic presentation is varied and response to treatments is incredibly heterogeneous, we felt like 10,000 was a number that would allow us to have enough data to start to really make sense of the genetics, both for the disease itself, as well as with regard to response to different therapies," Conley said.

Pfizer is developing treatments for IBD, and with the help of this study it's particularly interested in being able to identify best responders to a particular therapy under development. "With this study, we hope to develop a better understanding of the biology of Crohn’s disease and ulcerative colitis, and apply that information to identify the patients who are more likely to respond to a specific therapy in development," Mastrojohn said, without naming the investigational agent. According to the company's pipeline, Pfizer is researching Xeljanz (tofacitinib) in Phase III trials for ulcerative colitis, PF-00547659 in Phase II trials for Crohn's disease and ulcerative colitis, and PF-05285401 in Phase II for ulcerative colitis.

After working with 23andMe on other projects, Pfizer now has confidence that 23andMe could not only conduct the gene-disease association study, but also garner the type of biomarker and patient data the drugmaker is seeking specific to IBD, Mastrojohn noted. "We feel that 23andMe is uniquely suited to conduct this type of research due to its expertise in conducting large, online research initiatives and analyzing phenotypic and genetic data to make new discoveries," he said. "23andMe’s Personal Genome Service is an engaging platform where participants can learn about their genetic ancestry and connect with relatives. They appeal to people who want to contribute to research efforts that may be of direct interest to them while also receiving the benefit of learning about themselves."

23andMe is planning to use traditional marketing channels, as well as grassroots efforts and a patient advocacy organization, to recruit patients for the research program. Following the experience with the Parkinson's project, 23andMe believes it can recruit its target number of study subjects in a much shorter time frame than around four years. At the start of the Parkinson's project in 2009, "23andMe was a smaller company, we had less brand awareness, we had less practice and experience running these large kinds of research studies," Conley reflected. "Our goal [for the IBD project] is to recruit faster … given how much we've learned and grown."

23andMe will also draw lessons from past research efforts for sarcoma and myeloproliferative neoplasms, which showed that the patient community can successfully drive recruitment and research efforts when given the chance. Particularly, news of the project on myeloproliferative neoplasms – where the bone marrow overproduces a type of blood cells – "spread like wildfire through the patient community," recalled Conley.

With respect to inking research deals with pharma, the two key capabilities that drugmakers prize in a partner are speed and scale, she further noted. 23andMe will mail spit kits to study participants' homes, which they can return to the company for analysis. Participants will also be able to fill out surveys online from their home. This avoids the recruitment delays that typical research efforts might face when patients don't have participating study sites near where they live.

Other than the Pfizer collaboration, two years ago 23andMe announced it was working with Genentech on recruiting 1,000 metastatic breast cancer patients treated with the drug Avastin (bevacizumab). The aim of the study, called InVite, was to gauge the feasibility of the consumer-driven research model in collecting patient-reported genetic data and outcomes information from women who received Avastin – a drug for which the FDA had revoked the metastatic breast cancer indication due to limited efficacy in clinical trials. Genentech representatives speaking at the time said that interim data from the InVite pilot suggested that the non-traditional, consumer-driven research model may be more effective in recruiting patients for clinical trials than traditional paradigms.

In Conley's view, ultimately consumers are eager to engage in 23andMe's research efforts, because, unlike traditionally designed studies, they learn information directly relevant to themselves – about new genes that are important for a disease they have, data that could potentially help doctors personalize their care, and discoveries that can inspire drugmakers to develop more effective drugs. This concept of making patients partners in healthcare research, of giving them back data important to them in exchange for their participation, "is completely counter to 99 percent of the studies out there right now," Conley said. With 23andMe, "people are getting back their personal genomic information. That's incredibly compelling to them and that's a huge part of what makes what we do so sticky for our customers."

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