23andMe, Inc., a leading personal genetics company has replicated over 180 genetic associations from a list of associations curated by the National Human Genome Research Institute's Office of Population Genomics ("GWAS Catalog") demonstrating that self-reported medical data is effective and reliable to validate known genetic associations. The results establish 23andMe's methodology as a significant research platform in a new era of genetic research.
This study investigated nearly 400 previously reported genetic associations for 50 different conditions in more than 20,000 individuals of European descent. 23andMe replicated approximately 75 percent of the associations they expected to replicate, demonstrating that high quality findings of genetic associations can be derived from self-reported data. The study also provided the first independent replication for several associations.
A genetic association study on such a scale has never before been attempted however 23andMe's innovative research platform allows researchers to simultaneously investigate hundreds of genetic factors in dozens of different diseases. This study took only about a year from start to publish.
Our log ORs and 95% confidence intervals are shown as black circles and lines. Published ORs are shown as blue Xs.doi:10.1371/journal.pone.0023473.g001
A number of associations reported in very large meta-analyses have not been replicated because of the difficulty in assembling comparably sized cohorts of patients. There was a clear need to quickly and reliably gather retrospective phenotype information from large cohorts to validate existing associations as well as to discover new ones.
"This study demonstrates that this is a powerful method for performing genetic research," explained Senior Scientist Joyce Tung. "The potential of 23andMe's web-based platform is further enhanced by our ability to contact individuals multiple times and ask follow-up questions which puts us in a position to zero-in on associations."
"This flexibility to follow GWAS outcomes with efficient and cost-effective follow-up questionnaires is the foundation for future research aimed at prevention, better treatments, and potentially cures for a multitude of diseases and conditions," Tung concluded.
These results continue to validate 23andMe's methodology in combining self-reported data on phenotypes gathered via web-based questionnaires and genotypic data derived from self-collected saliva samples. 23andMe had previously published its first proof-of-concept results in the peer-reviews journal PLoS Genetics in June 2010 which reported novel associations for unusual traits such as asparagus anosmia and photic sneeze reflex and replicated associations for other traits, and recently published discovery of two novel genetic associations for Parkinson's disease, also in PLoS Genetics.
23andMe chose to publish its results in PLoS ONE instead of a peer-reviewed journal primarily because of its open-access policy, which allows anyone—including 23andMe customers who contributed to the research—to freely access the study. Customers will also see the results incorporated into the reports available in their online accounts over time.
Citation: Tung JY, Do CB, Hinds DA, Kiefer AK, Macpherson JM, et al. (2011) Efficient Replication of over 180 Genetic Associations with Self-Reported Medical Data. PLoS ONE 6(8): e23473. doi:10.1371/journal.pone.0023473