MOUNTAIN VIEW, CA – December 4, 2012 – 23andMe has received grants totaling $573,000 from the National Institutes of Health (NIH) to support three projects that utilize 23andMe’s unique web-based research platform. These include projects to better understand the genetics of allergies; to assess accuracy of new sequencing technologies in clinical applications; and to develop tools that will take advantage of the genotypic and phenotypic information in the 23andMe database to further accelerate the pace of human genetic research.
“These NIH grants recognize the ability of 23andMe’s unique, web-based research platform to accelerate our understanding of human genetics,” said Anne Wojcicki, co-founder and CEO of 23andMe.
The first of the grants will support genome wide association studies (GWAS) to discover genetic factors affecting allergic disease risk, and to assess gene environment interactions, as well as treatment responses. Asthma and allergies are extremely common, affect one in five Americans, and represent a substantial public health burden. GWAS of complex traits with both genetic and environmental contributions – such as allergies – are most effective when a large cohort is used in the study. The 23andMe research cohort includes more than 25,000 individuals reporting one or more allergies, more than 8,000 reporting an asthma diagnosis and more than 5,000 reporting having eczema. In addition, the 23andMe research cohort includes more than 100,000 individuals serving as controls.
Identifying genetic associations improves understanding of disease mechanisms in the body and can inform work towards improved diagnostics and treatments of allergic conditions.
“This grant will enable 23andMe to effectively partner with leading experts and researchers in the genetics of asthma and allergies,” said Principal Scientist at 23andMe, David Hinds, Ph.D. “Top experts will work together and with our data set seeking to discover genetic variants associated with allergies and asthma.”
23andMe will also be investigating error rates from next-generation sequencing technologies to help define data-quality metrics and technical specifications to support a sequencing-based Personal Genome Service®. This project was informed by the June 2011 FDA Public Meeting, “Ultra High Throughput Sequencing for Clinical Diagnostic Applications- Approaches to Assess Analytical Validity.” In this project, 23andMe will focus on the accuracy of technology used to sequence 150 exomes, including 50 new exomes sequenced for this project, and 100 whole genomes.
“Novel genetic sequencing technologies are emerging rapidly, and before they can be broadly adopted the accuracy of their results must be validated, whether viewed by a clinician or by individual consumers,” said 23andMe Founding Scientist Brian T. Naughton, PhD.
Naughton, principal investigator for this project, will oversee sequencing of 50 exomes known to carry disease-associated variants. This project will work toward creating a pipeline for next-generation sequence annotation that combines stringent quality control based on genotyping array and Sanger sequencing data; manually curated data from human genetics literature; and computational analysis of variants of unknown significance.
Principal investigator Nicholas Eriksson, PhD. will lead the development of tools to expand the utility of the 23andMe database, which includes phenotypic and genetic data from more than 180,000 customers. This project will measure and improve the reliability of self-reported data, analyze and organize survey responses for hundreds of new traits, and will extract more robust data to demonstrate the feasibility of the web-based approach to studying a broad range of conditions. This effort will establish the foundation for development of new surveys and data collection tools to support longitudinal studies and prepare for the depth of genetic data associated with whole-genome sequencing.
“A research engine will enhance not only research outcomes from 23andMe efforts,” said Dr. Eriksson, “but also the research value of the data for clinical and pharmaceutical partners to identify causes, diagnoses and treatments for genetically based conditions and accelerate the translational process of moving research discoveries to practical applications for patients.”
The projects described are supported by NIH Awards 1R43HL115873-01 from the National Heart, Lung, and Blood Institute, and 1R43HG006976-01 and 1R43HG006981-01 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, the National Heart, Lung and Blood Institute or the National Institutes of Health.