A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record

Publication date: Available online 20 February 2019Source: The Journal of Molecular DiagnosticsAuthor(s): Walter S. Campbell, Alexis B. Carter, Allison M. Cushman-Vokoun, Timothy C. Greiner, Rajesh C. Dash, Mark Routbort, Monica E. de Baca, James R. CampbellIncorporating genetic variant data into the electronic health record (EHR) in discrete computable fashion has vexed the informatics community for years. Genetic sequence test results are typically communicated by the molecular laboratory and stored in the EHR as textual documents. Although text documents are useful for human readability and initial use, they are not conducive for data retrieval and reuse. As a result, clinicians often struggle to find historical gene sequence results on a series of oncology patients within the EHR that might influence the care of the current patient. Second, identification of patients with specific mutation results in the EHR who are now eligible for new and/or changing therapy is not easily accomplished. Third, the molecular laboratory is challenged to monitor its sequencing processes for non-random process variation and other quality metrics. A novel approach to address each of these issues is presented and demonstrated. The authors employ standard HL7 laboratory result message formats in conjunction with international standards, SNOMED CT and Human Genome Variant Society nomenclature, to represent, communicate, and store discrete gene sequence data within the EHR in a scalable fashion. ...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research