Evidence map›Paper›PMID 26142422›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA2015

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.

Brian H Shirts, Joseph S Salama, Samuel J Aronson, Wendy K Chung, Stacy W Gray, Lucia A Hindorff, Gail P Jarvik, Sharon E Plon, Elena M Stoffel, Peter Z Tarczy-Hornoch and 13 more

Abstract read
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

62 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Genetically guided precision medicine clinical decision support tools: a systematic review.Journal of the American Medical Informatics Association : JAMIA · 2024
    Pooled it
  2. Trial
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  14. Neptune: an environment for the delivery of genomic medicine.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Article
  15. Article
  16. Article
  17. Development and implementation of an electronic medical record module to track genetic testing results.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Article
  18. Article
  19. Article
  20. Observational

2 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Brian H ShirtsDepartment of Laboratory Medicine, University of Washington, Seattle, WA, 98195, USA shirtsb@uw.edu.
Joseph S SalamaDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA.
Samuel J AronsonPersonalized Medicine, Partners Healthcare, Boston, MA, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Stacy W GrayDepartment of Medicine, Harvard Medical School, Boston, MA, USA Dana-Farber Cancer Institute, Boston, MA, USA.
Lucia A HindorffNational Human Genome Research Institute, NIH, Rockville, MD, USA.
Gail P JarvikDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Sharon E PlonDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Elena M StoffelDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Peter Z Tarczy-HornochDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.
Eliezer M Van AllenDana-Farber Cancer Institute, Boston, MA, USA The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Karen E WeckDepartment 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.
Christopher G ChuteDepartment of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
Robert R FreimuthDepartment of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
Robert W GrundmeierDepartment of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Andrea L HartzlerGroup Health Research Institute, Group Health Cooperative, Seattle, WA, USA.
Rongling LiNational Human Genome Research Institute, NIH, Rockville, MD, USA.
Peggy L PeissigBiomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, WI, USA.
Josh F PetersonDepartment of Biomedical Informatics, Vanderbilt, Nashville, TN, USA.
Luke V RasmussenDepartment of Preventive Medicine, Division of Health and Biomedical Informatics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Justin B StarrenDepartment of Preventive Medicine, Division of Health and Biomedical Informatics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Marc S WilliamsGenome Medicine Institute, Geisinger Medical Center, Danville, PA, USA.
Casey L OverbyGenome 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.

Funding

Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8M
North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2U01HG006487 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, BRADFORD C. · 2012 to 2021
$22.7M
Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and ValidationU01HG006485 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI MCGUIRE, AMY L, PARSONS, DONALD W. · 2012 to 2021
$22.1M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
OMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3M
Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
Clinical sequencing in cancer: Clinical ethical and technological studiesU01HG006507 · NHGRI · UNIVERSITY OF WASHINGTON · PI JARVIK, GAIL PAIRITZ · 2012 to 2016
$10.6M
Applying Genomic Sequencing in PediatricsU01HG006546 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI KRANTZ, IAN D. · 2012 to 2016
$10.6M
Clinical Implementation of Carrier Testing using NGSUM1HG007292 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI GODDARD, KATRINA A., WILFOND, BENJAMIN SIMON · 2013 to 2016
$8.2M
Sequencing, Analysis, and Interpretation of SequencingUM1HG006508 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI CHINNAIYAN, ARUL M, PIENTA, KENNETH J. · 2013 to 2016
$7.8M
Genomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5M
The Use of Whole-Exome Sequencing to Guide the Care of Cancer PatientsU01HG006492 · NHGRI · DANA-FARBER CANCER INST · PI JANNE, PASI A, VAN ALLEN, ELIEZER M · 2012 to 2016
$7.3M
NCATS NIH HHS UL1 TR001422NHGRI NIH HHS R01 HG006600NHGRI NIH HHS U01HG006375NHGRI NIH HHS U01HG006378NHGRI NIH HHS U01HG006379NHGRI NIH HHS U01HG006380NHGRI NIH HHS U01HG006382NHGRI NIH HHS U01HG006385NHGRI NIH HHS U01HG006388NHGRI NIH HHS U01HG006389NHGRI NIH HHS U01 HG006485NHGRI NIH HHS U01 HG006487NHGRI NIH HHS U01 HG006492NHGRI NIH HHS U01 HG006500NHGRI NIH HHS U01 HG006507NHGRI NIH HHS U01 HG006546NHGRI NIH HHS U01HG006828NHGRI NIH HHS U01HG006830NHGRI NIH HHS U01 HG007307NHGRI NIH HHS U01 HG008680NHGRI NIH HHS UM1 HG006508NHGRI NIH HHS UM1 HG007292NHGRI NIH HHS UM1 HG007301
6 · The paper itself

Abstract

objectiveClinicians' 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

methodsThe 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.

resultsThere 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.

conclusionHeterogeneity 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.

Indexed as

Electronic Health RecordsGenome, HumanGenomicsHumansInformation Storage and RetrievalTranslational Research, Biomedicalclinical decision supportelectronic health recordsgeneticssurveytranslational research

Identifiers

PMID26142422
PMCPMC5009914

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.