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CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
Shirts, Brian H; Salama, Joseph S; Aronson, Samuel J; Chung, Wendy K; Gray, Stacy W; Hindorff, Lucia A; Jarvik, Gail P; Plon, Sharon E; Stoffel, Elena M; Tarczy-Hornoch, Peter Z; Van Allen, Eliezer M; Weck, Karen E; Chute, Christopher G; Freimuth, Robert R; Grundmeier, Robert W; Hartzler, Andrea L; Li, Rongling; Peissig, Peggy L; Peterson, Josh F; Rasmussen, Luke V; Starren, Justin B; Williams, Marc S; Overby, Casey L.
Afiliación
  • Shirts BH; Department of Laboratory Medicine, University of Washington, Seattle, WA, 98195, USA shirtsb@uw.edu.
  • Salama JS; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA.
  • Aronson SJ; Personalized Medicine, Partners Healthcare, Boston, MA, USA.
  • Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
  • Gray SW; Department of Medicine, Harvard Medical School, Boston, MA, USA Dana-Farber Cancer Institute, Boston, MA, USA.
  • Hindorff LA; National Human Genome Research Institute, NIH, Rockville, MD, USA.
  • Jarvik GP; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Plon SE; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Stoffel EM; Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
  • Tarczy-Hornoch PZ; Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.
  • Van Allen EM; Dana-Farber Cancer Institute, Boston, MA, USA The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Weck KE; 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.
  • Chute CG; Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
  • Freimuth RR; Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
  • Grundmeier RW; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Hartzler AL; Group Health Research Institute, Group Health Cooperative, Seattle, WA, USA.
  • Li R; National Human Genome Research Institute, NIH, Rockville, MD, USA.
  • Peissig PL; Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, WI, USA.
  • Peterson JF; Department of Biomedical Informatics, Vanderbilt, Nashville, TN, USA.
  • Rasmussen LV; Department of Preventive Medicine, Division of Health and Biomedical Informatics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Starren JB; Department of Preventive Medicine, Division of Health and Biomedical Informatics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Williams MS; Genome Medicine Institute, Geisinger Medical Center, Danville, PA, USA.
  • Overby CL; 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.
J Am Med Inform Assoc ; 22(6): 1231-42, 2015 Nov.
Article en En | MEDLINE | ID: mdl-26142422
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genoma Humano / Almacenamiento y Recuperación de la Información / Genómica / Registros Electrónicos de Salud Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: J Am Med Inform Assoc Asunto de la revista: INFORMATICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genoma Humano / Almacenamiento y Recuperación de la Información / Genómica / Registros Electrónicos de Salud Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: J Am Med Inform Assoc Asunto de la revista: INFORMATICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos