Despite the diverse structure of the five EMRs of the eMERGE sites, we developed, validated, and successfully deployed 13 electronic phenotype algorithms. Validation is a worthwhile process that not only measures phenotype performance but also strengthens phenotype algorithm definitions and enhances their inter-institutional sharing.

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No consensus exists about when researchers need additional participant consent (re-consent) to submit existing data to the federal database of Genotypes and Phenotypes (dbGaP). Reconsent for submission of their data to dbGaP was sought from 1,340 study participants, 1,159 (86%) of whom agreed. We invited the first 400 of those who agreed to complete a telephone survey about their reasoning for their consent decision and their satisfaction with the re-consent process; 365 participants completed the survey. Respondents reported that it was very (69%) or somewhat (21%) important that they were asked for their permission. Many respondents considered alternatives to consent, such as notification-only or opt-out, to be unacceptable (67% and 40%, respectively). These results suggest that re-consent for dbGaP deposition may be advisable in certain cases to anticipate and honor participant preferences.

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