title: Technical desiderata for the integration of genomic data with clinical decision support.
abstract: The ease with which whole genome sequence (WGS) information can be obtained is rapidly approaching the point where it can become useful for routine clinical care. However, significant barriers will inhibit widespread adoption unless clinicians are able to effectively integrate this information into patient care and decision-making. Electronic health records (EHR) and clinical decision support (CDS) systems may play a critical role in this integration. A previously published technical desiderata focused primarily on the integration of genomic data into the EHR. This manuscript extends the previous desiderata by specifically addressing needs related to the integration of genomic information with CDS. The objective of this study is to develop and validate a guiding set of technical desiderata for supporting the clinical use of WGS through CDS. A panel of domain experts in genomics and CDS developed a proposed set of seven additional requirements. These desiderata were reviewed by 63 experts in genomics and CDS through an online survey and refined based on the experts' comments. These additional desiderata provide important guiding principles for the technical development of CDS capabilities for the clinical use of WGS information.
authors.affiliation: Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, United States; Program in Personalized Health Care, University of Utah, Salt Lake City, UT, United States. Electronic address: welchbm@musc.edu.
authors.forename: Brandon M
authors.initials: BM
authors.lastname: Welch
authors.affiliation: Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, United States; Department of Human Genetics, University of Utah, Salt Lake City, UT, United States.
authors.forename: Karen
authors.initials: K
authors.lastname: Eilbeck
authors.affiliation: Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, United States.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Del Fiol
authors.affiliation: Departments of Dermatology and Internal Medicine, University of Utah, Salt Lake City, UT, United States; Department of Pediatrics, University of Utah, Salt Lake City, UT, United States.
authors.forename: Laurence J
authors.initials: LJ
authors.lastname: Meyer
authors.affiliation: Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, United States.
authors.forename: Kensaku
authors.initials: K
authors.lastname: Kawamoto
mesh_terms: D030541:Databases, Genetic; D020000:Decision Support Systems, Clinical / Q000458:organization & administration*; D057286:Electronic Health Records / Q000458:organization & administration*; D023281:Genomics / Q000458:organization & administration*; D008498:Medical Record Linkage / Q000379:methods*; D020380:Needs Assessment / Q000458:organization & administration*; D057285:Precision Medicine / Q000379:methods*; D018511:Systems Integration
keywords: Clinical decision support systems; Electronic health records; Genomics; Health information technology; Medical genetics; Personalized medicine