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The clinical diagnosis of genetic disorders is undergoing transformation, driven by whole exome sequencing and whole genome sequencing (WES/WGS). However, such nucleotide-level resolution technologies create an interpretive challenge. Prior literature suggests that clinicians may employ characteristic cognitive processes during WES/WGS investigations to identify disruptions in genes causal for the observed disease. Based on cognitive ergonomics, we designed and evaluated a gene prioritization workflow that supported these cognitive processes.

To describe the literature exploring the use of electronic health record (EHR) systems to support creation and use of clinical documentation to guide future research.

Information reconciliation is a common yet complex and often time-consuming task performed by healthcare providers. While electronic health record systems can receive "outside information" about a patient in electronic documents, rarely does the computer automate reconciling information about a patient across all documents.

To determine the effects of an inpatient portal intervention on patient activation, patient satisfaction, patient engagement with health information, and 30-day hospital readmissions.

To better understand the real-world effects of pharmacogenomic (PGx) alerts, this study aimed to characterize alert design within the eMERGE Network, and to establish a method for sharing PGx alert response data for aggregate analysis. Seven eMERGE sites submitted design details and established an alert logging data dictionary. Six sites participated in a pilot study, sharing alert response data from their electronic health record systems. PGx alert design varied, with [...]

To systematically synthesize the literature on information visualizations of symptoms included as National Institute of Nursing Research common data elements and designed for use by patients and/or healthcare providers.

To quantify how stress related to use of health information technology (HIT) predicts burnout among physicians.

Large practice networks have access to EHR data that can be used to drive important improvements in population health. However, missing data often limit improvement efforts. Our goal was to determine the proportion of patients in a cohort of small primary care practices who lacked cholesterol data to calculate ASCVD risk scores and then gauge the extent that imputation can accurately identify individuals already at high risk. 219 practices enrolled [...]

Standard methods for obtaining data may delay quality improvement (QI) interventions including for bronchiolitis, a common cause of childhood hospitalization.