Funding supports utilization of whole-genome sequence data and imputation to discover rare variants associated with disease as well as the ability for external researchers to access aggregate data to advance scientific understanding of human DNA

23andMe, the leading personal genetics company, has received from the National Institutes of Health (NIH) a grant totaling $1,367,504 for a two-year project to support the further development of 23andMe’s web-based database and research engine for genetic discovery.

Specifically, the grant supports four areas of development:

• Refinement of web-based surveys to improve the company’s ability to identify novel genetic associations
• Enhanced infrastructure of survey tools to support the collection of a broader set of phenotypic data
• The utilization of whole-genome sequencing data and imputation to enable the discovery of rarer, more penetrant genetic associations
• Enablement of external non-23andMe researchers to access aggregate de-identified data from the 23andMe database to further accelerate the pace of human genetic research

“23andMe is building a platform to connect researchers and consumers that will enable discoveries to happen faster,” said Anne Wojcicki, co-founder and CEO of 23andMe. “This grant from the NIH recognizes the ability of 23andMe to create a unique, web-based platform that engages consumers and enables researchers from around the world to make genetic discoveries.”

The grant will enable 23andMe to refine current survey questions, release 15 new questionnaires, and discover novel associations between health conditions and genetic variants. The company will publish new discoveries in peer-reviewed scientific journals.

The grant also supports improvements to survey infrastructure and the creation of new tools for collection of phenotypic data. This will improve the usability of surveys, including an updatable health profile where participants can keep track of known health conditions and add simple interactive cognitive tests to the 23andMe website.

The grant also supports 23andMe’s efforts to utilize available whole-genome sequence data and imputation in order to discover rare variants associated with disease. 23andMe will impute genotypes using data from large public and internal sequencing projects, thus providing increased power to detect many novel associations, including rare variants with large effects. This type of analysis represents a model for how previous investments in genome-wide association studies will be utilized in the next generation of genetics research.

The grant’s final area of support is the company’s efforts to collaborate with academic and commercial partners to test and refine the Research Accelerator. The Research Accelerator provides access to aggregate de-identified genotype and phenotype data from 23andMe customers who have consented to participate in the company’s research program. 23andMe will give a limited set of partners early access to the Research Accelerator and will create reports and tools so that partners are able to see which single nucleotide polymorphisms (SNPs) are associated with conditions of interest; to find conditions associated with variants in individual genes; and to view other aggregate data. By providing access to the de-identified aggregate data, individual-level information remains protected while researchers from around the world have an opportunity to use genetic and phenotypic data from 23andMe to make discoveries.

Overall, this project will yield a database containing genotypes for 40 million SNPs and information on thousands of diseases and traits for more than 400,000 individuals. Novel associations, especially with the rare genetic variants imputed by 23andMe, will be of great value for disease prediction, drug development, and biological understanding.

23andMe now has more than 700,000 genotyped customers and more than 80 percent actively participate in the company’s research surveys. The company has collected nearly 200 million individual survey responses to date. 23andMe has published 16 papers in peer-reviewed scientific journals over the past three years.

The specific projects described are supported by NIH Award 2R44HG006981-02 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.