@article{b4b7c884ca8a45fe858be2bac574bb9e,
title = "CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record",
abstract = "Objective Clinicians' ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need to develop systems to effectively display genetic information in EHRs and augment clinical decision support (CDS). Materials and Methods The National Institutes of Health (NIH)-sponsored Clinical Sequencing Exploratory Research and Electronic Medical Records & Genomics EHR Working Groups conducted a multiphase, iterative process involving working group discussions and 2 surveys in order to determine how genetic and genomic information are currently displayed in EHRs, envision optimal uses for different types of genetic or genomic information, and prioritize areas for EHR improvement. Results There is substantial heterogeneity in how genetic information enters and is documented in EHR systems. Most institutions indicated that genetic information was displayed in multiple locations in their EHRs. Among surveyed institutions, genetic information enters the EHR through multiple laboratory sources and through clinician notes. For laboratory-based data, the source laboratory was the main determinant of the location of genetic information in the EHR. The highest priority recommendation was to address the need to implement CDS mechanisms and content for decision support for medically actionable genetic information. Conclusion Heterogeneity of genetic information flow and importance of source laboratory, rather than clinical content, as a determinant of information representation are major barriers to using genetic information optimally in patient care. Greater effort to develop interoperable systems to receive and consistently display genetic and/or genomic information and alert clinicians to genomic-dependent improvements to clinical care is recommended.",
keywords = "Clinical decision support, Electronic health records, Genetics, Survey, Translational research",
author = "Shirts, {Brian H.} and Salama, {Joseph S.} and Aronson, {Samuel J.} and Chung, {Wendy K.} and Gray, {Stacy W.} and Hindorff, {Lucia A.} and Jarvik, {Gail P.} and Plon, {Sharon E.} and Stoffel, {Elena M.} and Tarczy-Hornoch, {Peter Z.} and {Van Allen}, {Eliezer M.} and Weck, {Karen E.} and Chute, {Christopher G.} and Freimuth, {Robert R.} and Grundmeier, {Robert W.} and Hartzler, {Andrea L.} and Rongling Li and Peissig, {Peggy L.} and Peterson, {Josh F.} and Rasmussen, {Luke V.} and Starren, {Justin B.} and Williams, {Marc S.} and Overby, {Casey L.}",
note = "Funding Information: CSER: The Clinical Sequencing Exploratory Research Program (CSER) was initiated and funded by NHGRI and the NCI through the following grants: U01 HG006485 (Baylor College of Medicine); U01 HG006500 (Brigham & Women''s Hospital); U01 HG006546 (Children''s Hospital of Philadelphia); R01 HG006600 (Columbia University); U01 HG006492 (Dana-Farber Cancer Institute); UM1 HG007301 (HudsonAlpha Institute); UM1 HG007292 (Kaiser Permanente); UM1 HG006508 (University of Michigan); U01 HG006487 (University of North Carolina); U01 HG006507 (University of Washington); and U01 HG007307 (University of Washington serving as the Coordinating Center)eMERGE: The eMERGE Network was initiated and funded by National Human Genome Research Institute through the following grants: U01HG006828 (Cincinnati Children''s Hospital Medical Center/Boston Children''s Hospital); U01HG006830 (Children''s Hospital of Philadelphia); U01HG006389 (Essentia Institute of Rural Health); U01HG006382 (Geisinger Clinic); U01HG006375 (Group Health Cooperative); U01HG006379 (Mayo Clinic); U01HG006380 (Icahn School of Medicine at Mount Sinai); U01HG006388 (Northwestern University); U01HG006378 (Vanderbilt University Medical Center); and U01HG006385 (Vanderbilt University Medical Center serving as the Coordinating Center). Funding Information: CSER: The Clinical Sequencing Exploratory Research Program (CSER) was initiated and funded by NHGRI and the NCI through the following grants: U01 HG006485 (Baylor College of Medicine); U01 HG006500 (Brigham & Women{\textquoteright}s Hospital); U01 HG006546 (Children{\textquoteright}s Hospital of Philadelphia); R01 HG006600 (Columbia University); U01 HG006492 (Dana-Farber Cancer Institute); UM1 HG007301 (HudsonAlpha Institute); UM1 HG007292 (Kaiser Permanente); UM1 HG006508 (University of Michigan); U01 HG006487 (University of North Carolina); U01 HG006507 (University of Washington); and U01 HG007307 (University of Washington serving as the Coordinating Center). eMERGE: The eMERGE Network was initiated and funded by National Human Genome Research Institute through the following grants: U01HG006828 (Cincinnati Children{\textquoteright}s Hospital Medical Center/ Boston Children{\textquoteright}s Hospital); U01HG006830 (Children{\textquoteright}s Hospital of Philadelphia); U01HG006389 (Essentia Institute of Rural Health); U01HG006382 (Geisinger Clinic); U01HG006375 (Group Health Cooperative); U01HG006379 (Mayo Clinic); U01HG006380 (Icahn School of Medicine at Mount Sinai); U01HG006388 (Northwestern University); U01HG006378 (Vanderbilt University Medical Center); and U01HG006385 (Vanderbilt University Medical Center serving as the Coordinating Center). Publisher Copyright: {\textcopyright} The Author 2015.",
year = "2015",
doi = "10.1093/jamia/ocv065",
language = "English (US)",
volume = "22",
pages = "1231--1242",
journal = "Journal of the American Medical Informatics Association",
issn = "1067-5027",
publisher = "Oxford University Press",
number = "6",
}