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23andMe Running Genotyping Research Service Pilot Projects; Launch Slated for Q2

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NEW YORK (GenomeWeb) – Consumer genetics firm 23andMe will soon launch a service for researchers that will enable them to easily incorporate genetics and incentivize patient participation in clinical studies.

23andMe's Genotyping Services for Research, slated for full launch in the second quarter, is currently running in pilot phase in collaboration with several researchers that the company declined to name. Ruby Gadelrab, 23andMe's VP of commercial marketing, told GenomeWeb that in recent years researchers have requested the firm's help in recruiting and genotyping tens of thousands of study participants.

Responding to the demand, 23andMe developed Genotyping Services for Research (GSR), which Gadelrab believes will provide researchers an edge in recruiting participants in prospectively-designed studies. "There's a big movement right now where people feel like they want to return results to research participants," she said.

There are a lot of barriers to recruiting volunteers to clinical trials. Patients don't like being randomized and receiving a placebo, they are anxious about experiencing adverse reactions from investigational drugs, or they balk at traveling long distances to study sites. By some estimates, 20 percent of clinical trials fail to recruit any volunteers. In cancer, researchers often bemoan the fact that only 3 percent of patients join clinical studies.

For allowing scientists to test, prod, and use them as guinea pigs in research, participants may receive some monetary compensation and the satisfaction of knowing they are contributing to advancing scientific knowledge that might help others. But for the most part, they remain study subjects or patients, not partners in research, since they are hardly asked what they hope to gain from partaking in research, and rarely gain access to their own study results.

Now, because the success of national research projects such as the Precision Medicine Initiative hinges on the long-term participation and engagement of a broad swath of the American public, government leaders are getting behind the idea that study participants have a right to access the evaluations done on them. The NIH in February set a goal to enroll 79,000 participants by year end into PMI, a research project that ultimately hopes to build a 1-million-volunteer cohort in three to four years.

The NIH has assured that PMI participants will have access to their study results. Recently, NIH also announced that Vanderbilt University and Verily will work with volunteers to figure out the best ways to engage participants so researchers can collect longitudinal data that will advance precision medicine approaches. "This approach will help us learn how to create durable relationships with volunteers, who are partners in the research process, which will be the foundation for a democratized, transformative research environment," NIH Director Francis Collins wrote in his blog.

Since its launch in 2006, 23andMe has built is business on the very notion that customers are partners in research. The company to date has genotyped 1.2 million customers, with more than 80 percent consenting to participate in the company's research. GSR is another avenue by which 23andMe can grow its customer base while advancing its consumer-fueled research ethos.

The researchers, after getting IRB approval to return genetic test results to participants, can order spit kits online from 23andMe. The consumer price for 23andMe's Personal Genome Service is $199, but for GSR, the company said it will offer volume-based discounts. The kits can be mailed to the participants' home or to the study site for saliva sample collection.

Within eight weeks of receiving a sample, 23andMe processes it at a CLIA-certified lab and reports the raw data on approximately 600,000 SNPs to the researcher through an online portal. Using this portal, researchers can track the number of kits assigned to the study as they go through the analytical process, and download the data once available.

"It's essentially an end-to-end genotyping service, from saliva collection all the way to data for the researcher and for the research participant, without them having to get very involved at all," Gadelrab said, noting that GSR can help researchers gather genotyping data for their studies on a national scale.

This type of a service is "really useful when you're doing longitudinal studies that might take years," she added. "Someone can participate in research sitting on their couch anywhere in the country.”

One of the first studies where 23andMe tested out the GSR concept was the Neurogenetics Study, in which researchers at Duke University have been enrolling undergraduate students for nearly seven years and measuring their brains, genes, and behavior in an effort to map the biological pathways involved in risks of mental illness. "There are so many investigators now that have no background in genetics, who don't have the labs and facilities, but who are eager to have access to genetic information on their research participants," said Ahmad Hariri, psychology and neuroscience professor at Duke, whose lab is running the Neurogenetics Study. "Even if they have the money to do it in house, very few will have the expertise to do it well."

Approximately 1,200 participants have joined the Neurogenetics study, who for their time received monetary compensation and their own 23andMe account. "While that's not a significant number in the overall community of 23andMe, it's a very large number for our type of research, which involves neuro-imaging, clinical assessments, [and] behavioral assessments," Hariri told GenomeWeb. "We certainly would have had a much harder time developing this database without the support and collaboration from 23andMe."

Hariri's team and 23andMe have published findings from the Neurogenetics Study on genetic markers related to depression, opioid dependence, anxiety disorders, and cognitive ability. These discoveries have come at a savings, according to Hariri. Even at $199 per kit, not factoring in discounts for researchers, Hariri estimated that outsourcing the genotyping to 23andMe is cheaper than building testing capabilities in house. "Even core facilities at universities would have a hard time beating that cost," he said.

For the Neurogenetics Study, factoring in the reductions in testing costs since the study was launched in 2010, Hariri guessed that the per-patient genotyping costs would still have been in the range of $250 to $300 per participant if his team decided to do it in house. At a minimum, it would require investments in sample collection kits and genotyping chips, and most university researchers don't have the bulk sample quantities to beat 23andMe's pricing.

23andMe relieves researchers from the initial heavy lifting by handling saliva collection, processing, and analysis in a CLIA-certified lab; data curation; and reporting. "It makes our lives a lot easier," Hariri said. "So, we don't have to have the oversight, and we save costs … [because] we don't need the resources for storage, extraction, genotyping, chips, and kits."

Moreover, many of the undergraduates who volunteer for the Neurogenetics Study do so because they want the 23andMe account. "It's been an incredible incentive for participation," Hariri said, recognizing that so often researchers are unable to share anything with volunteers.

Participants that receive 23andMe's test through GSR can log onto the company's site and, like any other 23andMe customer, view their genotyped results on ancestry, traits, and wellness, as well as view their FDA-cleared carrier status reports. They can also download their raw SNP data file, but researchers cannot interpret the participants' 23andMe genetic data for clinical diagnostic purposes or as part of medical care. Participants must give consent for 23andMe to share their raw SNP data for the specific research study and they can opt in if they wish to participate in 23andMe's research.

Earlier this month, 23andMe announced the availability of a new module within Apple's open source ResearchKit software that would allow 23andMe customers to upload their genetic data and give consent to apply that information for studies. So far, the Asthma Health app at Mount Sinai and the MyHeart Counts app at Stanford Medicine will implement the 23andMe module.

ResearchKit is for the tech-savvy portion of the research market that is interested in building apps, Gadelrab explained. GSR, she noted, is for the researcher who wants a good genotyping service and wants to return results to participants but doesn't have access to app developers.

"It will be fascinating to see whether researchers will want to offer this to their participants; and if so, whether funders would allow the costs to be built in to grant proposals on a routine basis and under what circumstances," Misha Angrist, associate professor of the practice at Duke University's Social Science Research Institute, told GenomeWeb. "I imagine the uptake will be largely price-dependent."

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