23andMe Gets $1.4m from NIH, Publishes Parkinson's Research

July 29, 2014

By Bio-IT World Staff  
July 29, 2014 | 23andMe announced this morning a two-year grant of almost $1.4 million from the National Institutes of Health to expand development of the company’s database and research engine. 
The grant focuses on four areas: refinement of the personal genomics company’s customer surveys to identify novel genetic associations; enhanced infrastructure of survey tools to support the collection of a broader set of phenotypic data; use of whole-genome sequencing data and imputation to enable the discovery of rarer, more penetrant genetic associations; and, enablement of non-23andMe researchers to access aggregate de-identified data from the 23andMe database to further accelerate the pace of human genetic research.
23andMe has long contended that it is a research company, combining genotype data with phenotype surveys to build its database of genotype and phenotype data. Even after the FDA stopped the company from selling its Personal Genome Service, research efforts continued (see, “23andMe Pursues Health Research in the Shadow of the FDA”). 
The NIH grant proves that while FDA and 23andMe have not come to an agreement, at least one government organization believes in the power of 23andMe’s database. 
In an act of superb timing, the company’s work as part of a large-scale Parkinson’s disease study was published in Nature Genetics online. 23andMe was listed among more than 50 worldwide institutions in contributing to the research. 
Data from more than 66,000 23andMe customers—about 4,000 with the disease and about 62,000 healthy controls—were combined with other datasets in a large-scale genome-wide association study of Parkinson’s risk variants. The study identified six new risk loci, all associated with gene expression or DNA methylation. 
The company hopes that the NIH grant will further expand its opportunities to do this type of work. 
The grant will enable 23andMe to refine survey infrastructure and questions, release 15 new questionnaires, and discover novel associations between health conditions and genetic variants, the company said in its announcement. The grant also supports the creation of new tools for collection of phenotypic data. 
Finally, the grant money will be used to test and refine 23andMe’s Research Accelerator, which provides academic and commercial partners with access to aggregate de-identified genotype and phenotype data from 23andMe customers who have consented to participate in the company’s research program.  
Anne Wojcicki, 23andMe’s co-founder and CEO, has often said that 1 million is the magic number in terms of customers needed to truly disrupt healthcare. The company says it that now has more than 700,000 genotyped customers and that more than 80% of those actively participate in the company’s research surveys. 23andMe has published 16 papers in peer-reviewed scientific journals over the past three years.