23andMe, Inc., is a personal genomics company with a mission of accelerating medical discoveries by empowering consumers to participate in research. At the heart of this mission is the 23andMe research engine, a novel platform for conducting genetic studies that allows individuals to participate in genetic research by enrolling in the company's Personal Genome Service(R) and taking online surveys. Over 130,000 individuals have contributed genetic and phenotypic data, and this number is growing by over 50,000 each year. Our initial publications have shown the power and efficiency of this web-based approach for discovering novel genetic associations for a range of traits and diseases. These early successes, however, made only partial use of the rich and rapidly expanding 23andMe database. Our current challenge is to fully mine the genetic and phenotypic information that we are collecting in order to accelerate the pace of human genetic research. In Phase I of this grant, we have demonstrated the feasibility of this unique research approach. We have developed new computational tools to facilitate analysis of thousands of phenotypes in hundreds of thousands of people, curated survey data related to many new phenotypes, studied the reliability of our genetic data, and conducted user interviews for several surveys. Building on this foundation, in Phase II we will refine existing survey questions, develop and post new surveys, and analyze a subset of the resulting data to further demonstrate the utility of this platform (Aim #1);implement novel web-based data collection tools to efficiently gather longitudinal and cognitive data (Aim #2);capitalize on the upcoming explosion of whole-genome sequence data through statistical imputation, making it possible for us to discover rare SNPs associated with disease (Aim #3);and test and refine a new tool, the 23andMe Research Portal, that will provide external researchers access to the 23andMe database (Aim #4). We expect that by the end of the proposed project the 23andMe database will include genetic and phenotypic data for over 400,000 individuals, including members of several understudied populations. This database has the potential to yield thousands of novel genetic associations for diseases and traits, leading to a greater biological understanding of these conditions, potential drug targets, and improved tools to predict an individual's genetic risk of disease. A key commercial outcome of the project will be a database and research engine that is more valuable to potential research partners. Furthermore, discoveries will drive new reports for 23andMe customers, thus increasing the value of the Personal Genome Service(R).

Public Health Relevance

Genetic research has already produced biological discoveries and personalized treatments, but the field has far to go. This proposal aims to accelerate that research by taking advantage of 23andMe's growing membership of research participants who provide a wide range of personal as well as genetic information. The study will enable 23andMe to greatly increase the scope of their research and lead to new understanding of how genetics impacts human disease.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Small Business Innovation Research Grants (SBIR) - Phase II (R44)
Project #
2R44HG006981-02
Application #
8591464
Study Section
Special Emphasis Panel (ZRG1-IMST-J (15))
Program Officer
Brooks, Lisa
Project Start
2012-09-17
Project End
2015-06-30
Budget Start
2013-09-20
Budget End
2014-06-30
Support Year
2
Fiscal Year
2013
Total Cost
$805,975
Indirect Cost
Name
23andme, Inc.
Department
Type
DUNS #
780119710
City
Mountain View
State
CA
Country
United States
Zip Code
94043
Hu, Youna; Shmygelska, Alena; Tran, David et al. (2016) GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. Nat Commun 7:10448
Chahal, Harvind S; Wu, Wenting; Ransohoff, Katherine J et al. (2016) Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. Nat Commun 7:12510
Pickrell, Joseph K; Berisa, Tomaz; Liu, Jimmy Z et al. (2016) Detection and interpretation of shared genetic influences on 42 human traits. Nat Genet 48:709-17
Chahal, Harvind S; Lin, Yuan; Ransohoff, Katherine J et al. (2016) Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. Nat Commun 7:12048
Day, Felix R; Bulik-Sullivan, Brendan; Hinds, David A et al. (2015) Shared genetic aetiology of puberty timing between sexes and with health-related outcomes. Nat Commun 6:8842
Jorgenson, Eric; Makki, Nadja; Shen, Ling et al. (2015) A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. Nat Commun 6:10130
Chang, Anne Lynn S; Raber, Inbar; Xu, Jin et al. (2015) Assessment of the genetic basis of rosacea by genome-wide association study. J Invest Dermatol 135:1548-55
Bryc, Katarzyna; Durand, Eric Y; Macpherson, J Michael et al. (2015) The genetic ancestry of African Americans, Latinos, and European Americans across the United States. Am J Hum Genet 96:37-53
Day, Felix R; Hinds, David A; Tung, Joyce Y et al. (2015) Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat Commun 6:8464
Campbell, Christopher L; Furlotte, Nicholas A; Eriksson, Nick et al. (2015) Escape from crossover interference increases with maternal age. Nat Commun 6:6260

Showing the most recent 10 out of 16 publications