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With $190K in ARRA Funding, 23andMe to Validate Web-based Platform to Spur PGx Collaborations

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Originally published Dec. 17.

By Turna Ray

Direct-to-consumer genomics firm 23andMe announced this week that it has received a $190,000 grant from the National Institutes of Health to validate the use of its web-based network of 60,000 genotyped customers for investigating pharmacogenetic associations.

The company aims to show that its web-based, customer-reported data-gathering methods yield results comparable to traditional research models — both in terms of the accuracy of phenotypic data reported by customers, as well as the overall ability of the approach to replicate known associations between genes and drug response.

According to a 23andMe spokesperson, the company expects the validated platform to facilitate PGx collaborations with industry and academia.

"Once our PGx research platform is validated we'll consider a wide variety of opportunities to work with research centers, academic or otherwise; pharmaceutical and medical companies; as well as non-profit organizations," a company spokesperson told PGx Reporter. "Our priority is working on research that can rapidly translate to personalized medicine."

The Mountain View, Calif., firm received the award under from the National Human Genome Research Institute under the 2009 American Recovery and Reinvestment Act for a project entitled, "Web-based Phenotyping for Genome-Wide Association Studies of Drug Response."

The 23andMe spokesperson indicated that the ARRA funds will be sufficient to complete the PGx study. The project is slated for completion by the end of 2011 and 23andMe is hoping to publish the results of the research in early 2012.

In the first phase of the study, 23andMe will develop web-based surveys to assess its customers' experience with drug efficacy and side effects. The company plans to compare this web-based survey data to similar information received via phone interviews to determine whether patients provide the same level of information in the web-based model as they would in more traditional study models.

In the second part of the study, 23andMe will investigate whether this web-based analysis enables replication of previously known associations between variation within CYP2C9 and CYP2C19 and three classes of drugs: non-steroidal anti-inflammatory drugs, such as ibuprofen, naproxen, and clecoxib; protein-pump inhibitors for treating gastroesophogeal reflux disease; and an anticoagulant, warfarin.

Additionally, the 23andMe research team will try to find new gene-response links to the three drug classes. In this analysis, the company will also tie in various non-genetic characteristics, such as age, sex, and body-mass index, among others.

According to the firm, eligible and consenting 23andMe customers will be invited to join this study next year. The company hopes to include data from "at least" 3,000 customers in the study, according to the grant abstract.

"If this project is successful in yielding replications, it will set the stage for rapid, well-powered and cost-effective research on many medications," Anne Wojcicki, 23andMe CEO and cofounder, said in a statement. "In particular, it will facilitate research on new medications as they hit the market, serving to significantly advance personalized medicine."

The PGx study conducted with ARRA funds will fall under the 23andWe research initiative.

Two years ago, the company launched 23andWe, an effort that aimed to improve the quality of patient data used in pharmacogenomic-based clinical trials organized by 23andMe. Other goals of the project include advancing the development of tailored drugs and encouraging regulators and medical groups to use genetic information in their medical decision making. In launching the research initiative, the company highlighted that consumer-driven research is the cornerstone of the company's research model, which draws from 23andMe's web-based community of customers to populate its studies (PGx Reporter 06/04/08).

Recently 23andMe updated consumers about some of the other research efforts underway at the company through its 23andWe arm, including a genetic analysis of 22 common traits of European ancestry, which was published in PLoS Genetics earlier this year; a study investigating the risks of developing Parkinson's disease; a sarcoma project that is combining phenotypic and drug response data with genetics to better understand the disease; and an effort to assess disease risk prediction models using 23andMe survey responses.

In the new PGx project, 23andMe will use its customized genotyping chip, based in Illumina's HumanOmniExpress. Last month, the company announced that it was upgrading from Illumina's HumanHap550 chip, which tested around 600,000 SNPs, to Illumina's HumanOmniExpress, which gauges around 1 million SNPs (PGx Reporter 11/24/10). According to 23andMe, its new chip will allow the firm to assess numerous SNPs associated with drug metabolism, efficacy, toxicity, or other side effects.

23andMe believes that its research methodologies could potentially change the way genomic studies are done, since the web-based research engine allows the company to perform hundreds of studies at the same time; contact participants quickly for a particular study and develop a relationship for future studies; and eliminate geographic barriers between study participants and the research site. "A web-based research model … affords participants added flexibility, they can choose when and where to respond to surveys and may take breaks to check on answers to specific questions as needed," 23andMe highlighted.

"The scale of our research is particularly important because the smaller sample sizes in traditional studies make it much less likely that any or many discoveries of statistical significance will be made," the 23andMe spokesperson said. "Our studies will be different because of the potential scale and parallel nature of the research."

In an effort to establish the viability of its cosumer-driven research model, 23andMe in June published its first genome-wide association findings based on self-reported data from its customers. In the study, published in PLoS Genetics, researchers from 23andMe and Columbia University analyzed data from more than 9,000 customers and were able to verify previously reported associations for five traits and identified new SNPs linked to four of the traits, including hair curl, freckling, sneezing in response to light, and the ability to detect asparagus metabolite odors in urine.

However, the life sciences research community has cautiously embraced 23andMe's web-based and consumer-driven research model. When the company originally submitted its first GWAS from self-reported data to PLoS Genetics, it took the company and journal editors more than a year to iron out all the ethical concerns raised by 23andMe's research methods.

A month after the paper was published, 23andme changed its consent process for customers, giving them more control over the types of research they want to participate in and the option to not submit their genomic data for certain projects (PGx Reporter 07/14/10).


Have topics you'd like to see covered in Pharmacogenomics Reporter? Contact the editor at tray [at] genomeweb [.] com.

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