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Genome Institute Grant Funds 23andMe Database Upgrades

DNA illustration

(NIST.gov)

29 July 2014. National Human Genome Research Institute, part of National Institutes of Health, is funding enhancements to the research database capabilities of personal genetics company 23andMe in Mountain View, California. The two-year, $1.37 million project aims to help the company better mine its genetic and survey data collections for research connecting genomic variations to physical traits.

23andMe analyzes saliva samples and returns DNA analyses to reveal their customers’ ancestry. The analysis focuses on key genetic variations, called single nucleotide polymorphisms or SNPs that determine inherited traits, but can also trace ethnic heritage and even the presence of Neanderthal ancestors.

The company asks customers as well to complete online profiles and questionnaires about personal health, which makes it possible to associate SNP variations with physical traits including occurrence of disease. These associations are made in the aggregate, not for individuals; the company received a stiff warning from the Food and Drug Administration in November 2013 for making individual health assessments without the proper clearances from FDA.

The NHGRI grant is expected to help 23andMe upgrade its databases to make them more useful to genomic researchers. The enhancements include refinements to its current online questionnaires as well as adding 15 new questionnaires to its collection. The new surveys will be designed to improve longitudinal data analysis as well as add online tests to assess cognitive abilities.

The funding is expected as well to help 23andMe upgrade its capabilities to better accommodate whole genome sequencing data to help find new associations, particularly with rare genomic variations. This upgrade also aims to refine the company’s research accelerator program that offers geneticists access to its databases of SNPs and physical trait information, with personal identities removed.

The program is now in a pilot stage where a limited number of researchers are studying associations between genomic and physical trait variables. 23andMe says the upgrades should result in databases with survey data on diseases and traits from 400,000 of its customers, as well as 40 million SNPs.

An example of this research potential is a study published earlier this week in the journal Nature Genetics that analyzed genome-wide associations of more than 13,000 individuals with Parkinson’s disease compared to more than 95,000 individuals without the disorder. The analysis identified 6 genetic regions previously not associated with Parkinson’s disease, as well as confirming 24 known associations. 23andMe provided data from than 4,000 of its participants with Parkinson’s disease, and 62,000 without the condition for the study.

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