Abstract
We offered adolescents personalized choices about the type of genetic results they wanted to learn during a research study and created a workflow to filter and transfer the results to the electronic health record (EHR). We describe adaptations needed to ensure that adolescents' results documented in the EHR and returned to adolescent/parent dyads matched their choices. A web application enabled manual modification of the underlying laboratory report data based on adolescents' choices. The final PDF format of the laboratory reports was not viewable through the EHR patient portal, so an EHR form was created to support the manual entry of discrete results that could be viewed in the portal. Enabling adolescents' choices about genetic results was a labor-intensive process. More than 350 hours was required for development of the application and EHR form, as well as over 50 hours of a study professional's time to enter choices into the application and EHR. Adolescents and their parents who learned genetic results through the patient portal indicated that they were satisfied with the method of return and would make their choices again if given the option. Although future EHR upgrades are expected to enable patient portal access to PDFs, additional improvements are needed to allow the results to be partitioned and filtered based on patient preferences. Furthermore, separating these results into more discrete components will allow them to be stored separately in the EHR, supporting the use of these data in clinical decision support or artificial intelligence applications.
Highlights
We offered adolescents personalized choices about the type of genetic results they wanted to learn during a research study and created a workflow to filter and transfer the results to the electronic health record (EHR)
The final PDF format of the laboratory reports was not viewable through the EHR patient portal, so an EHR form was created to support the manual entry of discrete results that could be viewed in the portal
CCHMC’s Division of Biomedical Informatics (BMI) was asked to create an application in which adolescents’ choices would be entered into a web interface, and when Laboratory of Molecular Medicine (LMM) results were ready, the application would use those choices to extract the relevant elements of the XML laboratory report, which would be transferred to the EHR (Epic) in a format viewable via the patient portal (MyChart)
Summary
We offered adolescents personalized choices about the type of genetic results they wanted to learn during a research study and created a workflow to filter and transfer the results to the electronic health record (EHR). More than 350 hours was required for development of the application and EHR form, as well as over 50 hours of a study professional’s time to enter choices into the application and EHR Adolescents and their parents who learned genetic results through the patient portal indicated that they were satisfied with the method of return and would make their choices again if given the option. Phase III of the Electronic Medical Records and Genomics Network (eMERGE III) required that each participating member conduct a site-specific genomic implementation project using a gene panel of 109 genes and 1,551 single nucleotide variants to support network-wide discovery.[7] Cincinnati Children’s Hospital Medical Center (CCHMC’s) project sought to engage adolescents in a multistep decision-making process about the type of genomic results that they wanted to learn about themselves.[8,9,10] The implementation focused on a subset of the eMERGE III panel, with institutional review board (IRB) approval to return adolescents’ genomic results for up to 84 clinically actionable and returnable genes that informed risk for 55 conditions, including adult-onset conditions. While our multistep process provided considerably more engagement than in current clinical situations, it did result in our having to return customized results based on those individualized choices.[8,9] The purpose of this paper is to describe the required informatics solutions to ensure that only the results desired by the dyads were returned, that they were findable and searchable within the EHR and accessible via the EHR patient portal
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