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).
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Laboratory Medicine, University of Washington, Seattle, WA, 98195, USA shirtsb@uw.edu.
authors.forename: Brian H
authors.initials: BH
authors.lastname: Shirts
authors.affiliation: Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA.
authors.forename: Joseph S
authors.initials: JS
authors.lastname: Salama
authors.affiliation: Personalized Medicine, Partners Healthcare, Boston, MA, USA.
authors.forename: Samuel J
authors.initials: SJ
authors.lastname: Aronson
authors.affiliation: Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
authors.affiliation: Department of Medicine, Harvard Medical School, Boston, MA, USA Dana-Farber Cancer Institute, Boston, MA, USA.
authors.forename: Stacy W
authors.initials: SW
authors.lastname: Gray
authors.affiliation: National Human Genome Research Institute, NIH, Rockville, MD, USA.
authors.forename: Lucia A
authors.initials: LA
authors.lastname: Hindorff
authors.affiliation: Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA Department of Genome Sciences, University of Washington, Seattle, WA, USA.
authors.forename: Gail P
authors.initials: GP
authors.lastname: Jarvik
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Sharon E
authors.initials: SE
authors.lastname: Plon
authors.affiliation: Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Elena M
authors.initials: EM
authors.lastname: Stoffel
authors.affiliation: Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.
authors.forename: Peter Z
authors.initials: PZ
authors.lastname: Tarczy-Hornoch
authors.affiliation: Dana-Farber Cancer Institute, Boston, MA, USA The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
authors.forename: Eliezer M
authors.initials: EM
authors.lastname: Van Allen
authors.affiliation: Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
authors.forename: Karen E
authors.initials: KE
authors.lastname: Weck
authors.affiliation: Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Chute
authors.affiliation: Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
authors.forename: Robert R
authors.initials: RR
authors.lastname: Freimuth
authors.affiliation: Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Robert W
authors.initials: RW
authors.lastname: Grundmeier
authors.affiliation: Group Health Research Institute, Group Health Cooperative, Seattle, WA, USA.
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Hartzler
authors.affiliation: National Human Genome Research Institute, NIH, Rockville, MD, USA.
authors.forename: Rongling
authors.initials: R
authors.lastname: Li
authors.affiliation: Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, WI, USA.
authors.forename: Peggy L
authors.initials: PL
authors.lastname: Peissig
authors.affiliation: Department of Biomedical Informatics, Vanderbilt, Nashville, TN, USA.
authors.forename: Josh F
authors.initials: JF
authors.lastname: Peterson
authors.affiliation: Department of Preventive Medicine, Division of Health and Biomedical Informatics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
authors.forename: Luke V
authors.initials: LV
authors.lastname: Rasmussen
authors.affiliation: Department of Preventive Medicine, Division of Health and Biomedical Informatics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
authors.forename: Justin B
authors.initials: JB
authors.lastname: Starren
authors.affiliation: Genome Medicine Institute, Geisinger Medical Center, Danville, PA, USA.
authors.forename: Marc S
authors.initials: MS
authors.lastname: Williams
authors.affiliation: Genome Medicine Institute, Geisinger Medical Center, Danville, PA, USA Department of Medicine, Program for Personalized and Genomic Medicine and Center for Health-Related Informatics and Bioimaging, University of Maryland School of Medicine, Baltimore, MD, USA.
authors.forename: Casey L
authors.initials: CL
authors.lastname: Overby
mesh_terms: D057286:Electronic Health Records; D015894:Genome, Human; D023281:Genomics / Q000379:methods*; D006801:Humans; D016247:Information Storage and Retrieval / Q000379:methods*; D057170:Translational Research, Biomedical
keywords: clinical decision support; electronic health records; genetics; survey; translational research