23andMe project aims at validating highly scalable pharmacogenomics research

Goal is highly scalable pharmacogenomics research

23andMe has launched a project funded by the National Institutes of Health (NIH) which is aimed at validating 23andMe's highly-scalable platform for pharmacogenomics research. The company received $190,000 in stimulus funding from the American Recovery and Reinvestment Act of 2009 for "Web-based Phenotyping for Genome-Wide Association Studies of Drug Response" from NIH's National Human Genome Research Institute.

"One of 23andMe's research goals is to identify novel pharmacogenetic associations using web-based phenotyping of efficacy and toxicity," said Anne Wojcicki. co-founder and CEO of 23andMe. "If this project is successful in yielding replications, it will set the stage for rapid, well-powered and cost-effective research on many mediations. In particular, it will facilitate research on new medications as they hit the market, serving to significantly advance personalized medicine."

Building on 23andMe's initial success in discovering novel genetic associations related to hair curl, asparagus anosmia (the inability to detect the scent of certain asparagus metabolites in urine), the photic sneeze reflex (the tendency to sneeze when entering bright light), and freckling, as published in PLoS Genetics this year, the research arm of 23andMe is now investigating genetic factors underlying responses to three classes of drugs: non-steroidal anti-inflammatory drugs (NSAIDs); protein-pump inhibitors (PPIs), used to treat gastroesophogeal reflux disease (GERD); and the blood thinner, Warfarin.

This project leverages 23andMe's customized genotyping chip, which includes thousands of single nucleotide polymorphisms (SNPs) not included on standard chips. In particular, this chip tests numerous SNPs within genes known to be associated with drug metabolism, efficacy, toxicity, or other side effects.

The first phase of the study includes development and validation of web-based surveys to assess the drug side effects and drug effectiveness experienced directly by 23andMe's customers. During the second phase, the research team will determine whether this approach enables them to replicate previously known associations between response to these three classes of drugs and variation within two genes: CYP2C9 and CYP2C19. 23andMe's research team will also search for previously unknown genetic factors associated with response to these classes of drugs, taking into consideration a broad range of non-genetic factors such as age, sex, and body-mass index, among others.

In previous studies, 23andMe has demonstrated that self-reported information from customers yields data of quality comparable to that gathered using traditional research methods. Additional benefits of 23andMe's web-based research model include: the ability to perform hundreds of studies in parallel; easy and efficient ways to contact individual participants multiple times and ask follow-up questions -- this enables 23andMe researchers to quickly zero-in on associations that could be the building blocks for future research aimed at prevention, better treatments, and potentially cures for a multitude of diseases and conditions. A web-based research model also 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. The geographic location of research participants and their proximity to a research center is no longer a limiting factor with a web-based approach, providing an even larger pool of potential research participants.

Ultimately, web-based data collection, parallel analysis of hundreds of traits and diseases, and highly automated genotyping lead to low cost research. 23andMe's more than 60,000 customers are invited regularly to participate in a range of research projects; eligible and consenting customers will be invited to join this study during 2011.

The project described is supported by Award Number 1R43HG005807-01 from the National Human Genome Research Institute. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Human Genome Research Institute or the National Institutes of Health.