Evaluating Phenotypic Data Elements for Genetics and Epidemiological Research: Experiences from the eMERGE and PhenX Network Projects

Combining genome-wide association studies (GWAS) data with clinical information from the electronic medical record (EMR) provide unprecedented opportunities to identify genetic variants that influence susceptibility to common, complex diseases. While mining the vastness of EMR greatly expands the potential for conducting GWAS, non-standardized representation and wide variability of clinical data and phenotypes pose a major challenge to data integration and analysis. To address this requirement, we present experiences and methods developed to map phenotypic data elements from eMERGE (Electronic Medical Record and Genomics) to PhenX (Consensus Measures for Phenotypes and Exposures) and NCI’s Cancer Data Standards Registry and Repository (caDSR). Our results suggest that adopting multiple standards and biomedical terminologies will expose studies to a broader user community and enhance interoperability with a wider range of studies, in turn promoting cross-study pooling of data to detect both more subtle and more complex genotype-phenotype associations.