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23andMe Receives NIH Funding to Evaluate Web-Based Research on the Genetics of Drug Response

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Genetic testing company 23andMe announced last week the launch of a project that aims to use web surveys to improve personalized medicine. The project, supported by the National Institutes of Health (NIH), plans to validate 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 (NHGRI).

The project leverages 23andMe’s customized genotyping chip, which includes thousands of single nucleotide polymorphisms (SNPs) not included on standard chips. In particular, the 23andMe 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 is focused on the 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.

23andMe has demonstrated in previous studies that self-reported information from customers yields data of quality comparable to that gathered using traditional research methods. The project described is supported by Award Number 1R43HG005807-01 from the NHGRI.

DESCRIPTION: Greater availability of personalized genetic information regarding the efficacy or toxicity of medications could lead to improved patient care and save consumers, insurers and medical institutions billions of dollars per year. Although the field of pharmacogenomics has had some success in discovering relationships between genetic variants and drug response, a great deal of genetic variation in drug response remains unexplained. Our broad, long term research aim is to identify novel pharmacogenetic associations using web-based phenotyping of efficacy and toxicity for several major drug classes. With that goal in mind, our short term aim is to determine whether web-based collection of phenotype data along with genome-wide data for thousands of 23andMe customers leads to replication of known associations between responses to proton pump inhibitors (PPIs) and the gene CYP2C19, and between responses to several commonly used medications and the gene CYP2C9. The specific aims of this study are (1) to develop and administer web-based surveys to collect information regarding response to several commonly used classes of medications (including antihistamines, analgesics, blood thinners, and proton-pump inhibitors) from at least 3,000 individuals; and (2) to determine whether this web-based research model yields replications of known associations between several commonly used medications and the genes CYP2C19 and CYP2C9. To conduct this innovative study the 23andMe research group will leverage several resources, including a broad set of drug metabolism-related single nucleotide polymorphisms (SNPs) on the 23andMe custom genotyping array. This project will also leverage involvement of a rapidly expanding, engaged, genotyped cohort of 23andMe customers who have the option to participate in research by responding to web-based questionnaires. The parallel and continuous nature of this research model allows for the efficient recruitment of participants to many studies at once and reduces the cost of re-contacting for additional analyses. As evidence of our rapid capability to assemble a cohort, an initial survey regarding commonly used medications solicited, within a month, responses from about 2500 individuals genotyped at 580,000 SNPs. Possible outcomes of this study include the replication of known pharmacogenomic associations and the discovery of novel associations. If the study is successful in yielding replications, it will set the stage for rapid, well-powered and cost-effective research on variation in response to a large number of medications, thereby significantly advancing personalized medicine.

PUBLIC HEALTH RELEVANCE: The availability of personalized genetic information regarding the efficacy or toxicity of medications could lead to improved patient care, and save consumers, insurers and medical institutions billions of dollars per year. With that goal in mind, our near term aim in this grant is to determine whether web-based collection of phenotype data along with genome-wide data for thousands of 23andMe customers leads to replication of known associations two genes (CYP2C9 and CY2C19) and several major drug classes of commonly used medications.

[Abstract obtained from RePORTER: Project Number 1R43HG005807-01]

Source: 23andMe