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J Am Med Inform Assoc. 2018 Oct 1;25(10):1375-1381. doi: 10.1093/jamia/ocy051.

Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.

Author information

1
Research Information Science and Computing, Partners HealthCare, Boston, Massachusetts, USA.
2
Partners Personalized Medicine, Partners HealthCare, Boston Massachusetts, USA.
3
Mitogen-GeneInsight, Sunquest Information Systems, Boston, Massachusetts, USA.
4
DNAnexus, Inc., Mountain View, California, USA.
5
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
6
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
7
Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
8
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
9
Department of Biomedical Informatics, Columbia University, New York, New York, USA.
10
Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
11
Kaiser Permanente Washington Health Research Institute, Seattle, Washington, USA.
12
Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, Washington, USA.
13
Informatics Institute, University of Alabama at Birmingham, Birmingham, Alabama, USA.
14
Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
15
Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
16
Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
17
Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
18
Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
19
Department of Preventive Medicine, Division of Health and Biomedical Informatics, Northwestern University, Chicago, Illinois, USA.
20
Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
21
National Human Genome Research Institute, Bethesda, Maryland, USA.

Abstract

The eMERGE Network is establishing methods for electronic transmittal of patient genetic test results from laboratories to healthcare providers across organizational boundaries. We surveyed the capabilities and needs of different network participants, established a common transfer format, and implemented transfer mechanisms based on this format. The interfaces we created are examples of the connectivity that must be instantiated before electronic genetic and genomic clinical decision support can be effectively built at the point of care. This work serves as a case example for both standards bodies and other organizations working to build the infrastructure required to provide better electronic clinical decision support for clinicians.

PMID:
29860405
PMCID:
PMC6188517
[Available on 2019-05-31]
DOI:
10.1093/jamia/ocy051

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