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      The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

      review-article
      , MD 1 , * , , MD, PhD 2 , * , , PhD 2 , , MS 2 , , MD, PhD 3 , , MD, PhD 3 , , PhD 1 , , MD 1 , , MS, CGC 1 , , MBA 4 , , PhD 5 , , PhD 2 , , PhD 6 , , MD, DrPH 7 , , MD 8 , , PhD 9 , , MD 4 , , MD 9 , , PhD 4 , , MD, PhD 8 , , MD, PhD 10 , , MD, PhD 9 , , MD, PhD 11 , , MD 7 , , MD, MPH 12 , , PhD, MPH 13 , , PhD 14 , , MD 4 , , MS 6 , , MD 1 , , MD 2 , and The eMERGE Network
      Genetics in Medicine
      Nature Publishing Group
      collaborative research, electronic medical records, genetics and genomics, genome-wide association studies, personalized medicine

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          Abstract

          The Electronic Medical Records and Genomics Network is a National Human Genome Research Institute–funded consortium engaged in the development of methods and best practices for using the electronic medical record as a tool for genomic research. Now in its sixth year and second funding cycle, and comprising nine research groups and a coordinating center, the network has played a major role in validating the concept that clinical data derived from electronic medical records can be used successfully for genomic research. Current work is advancing knowledge in multiple disciplines at the intersection of genomics and health-care informatics, particularly for electronic phenotyping, genome-wide association studies, genomic medicine implementation, and the ethical and regulatory issues associated with genomics research and returning results to study participants. Here, we describe the evolution, accomplishments, opportunities, and challenges of the network from its inception as a five-group consortium focused on genotype–phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting toward the implementation of genomic medicine.

          Genet Med 15 10, 761–771.

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          Most cited references42

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          The "meaningful use" regulation for electronic health records.

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            Effect of clinical decision-support systems: a systematic review.

            Despite increasing emphasis on the role of clinical decision-support systems (CDSSs) for improving care and reducing costs, evidence to support widespread use is lacking. To evaluate the effect of CDSSs on clinical outcomes, health care processes, workload and efficiency, patient satisfaction, cost, and provider use and implementation. MEDLINE, CINAHL, PsycINFO, and Web of Science through January 2011. Investigators independently screened reports to identify randomized trials published in English of electronic CDSSs that were implemented in clinical settings; used by providers to aid decision making at the point of care; and reported clinical, health care process, workload, relationship-centered, economic, or provider use outcomes. Investigators extracted data about study design, participant characteristics, interventions, outcomes, and quality. 148 randomized, controlled trials were included. A total of 128 (86%) assessed health care process measures, 29 (20%) assessed clinical outcomes, and 22 (15%) measured costs. Both commercially and locally developed CDSSs improved health care process measures related to performing preventive services (n= 25; odds ratio [OR], 1.42 [95% CI, 1.27 to 1.58]), ordering clinical studies (n= 20; OR, 1.72 [CI, 1.47 to 2.00]), and prescribing therapies (n= 46; OR, 1.57 [CI, 1.35 to 1.82]). Few studies measured potential unintended consequences or adverse effects. Studies were heterogeneous in interventions, populations, settings, and outcomes. Publication bias and selective reporting cannot be excluded. Both commercially and locally developed CDSSs are effective at improving health care process measures across diverse settings, but evidence for clinical, economic, workload, and efficiency outcomes remains sparse. This review expands knowledge in the field by demonstrating the benefits of CDSSs outside of experienced academic centers. Agency for Healthcare Research and Quality.
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              Charting a course for genomic medicine from base pairs to bedside.

              There has been much progress in genomics in the ten years since a draft sequence of the human genome was published. Opportunities for understanding health and disease are now unprecedented, as advances in genomics are harnessed to obtain robust foundational knowledge about the structure and function of the human genome and about the genetic contributions to human health and disease. Here we articulate a 2011 vision for the future of genomics research and describe the path towards an era of genomic medicine.
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                Author and article information

                Journal
                Genet Med
                Genet. Med
                Genetics in Medicine
                Nature Publishing Group
                1098-3600
                1530-0366
                October 2013
                06 June 2013
                : 15
                : 10
                : 761-771
                Affiliations
                [1 ]Mount Sinai School of Medicine, New York , New York, USA
                [2 ]Geisinger Clinic , Danville, Pennsylvania, USA
                [3 ]National Human Genome Research Institute, National Institutes of Health , Bethesda, Maryland, USA
                [4 ]Vanderbilt University Medical Center , Nashville, Tennessee, USA
                [5 ]Marshfield Clinic Research Foundation , Marshfield, Wisconsin, USA
                [6 ]Feinberg School of Medicine, Northwestern University , Chicago, Illinois, USA
                [7 ]Mayo Clinic , Rochester, Minnesota, USA
                [8 ]Children's Hospital of Philadelphia , Philadelphia, Pennsylvania, USA
                [9 ]University of Washington Medical Center , Seattle, Washington, USA
                [10 ]Cincinnati Children's Hospital Medical Center , Cincinnati, Ohio, USA
                [11 ]Boston Children's Hospital , Boston, Massachusetts, USA
                [12 ]Group Health Research Institute , Seattle, Washington, USA
                [13 ]Essentia Institute of Rural Health , Duluth, Minnesota, USA
                [14 ]The Pennsylvania State University , University Park, Pennsylvania, USA
                Author notes
                Article
                gim201372
                10.1038/gim.2013.72
                3795928
                23743551
                18d31e0d-1709-47c2-bace-9ef28c849c98
                Copyright © 2013 American College of Medical Genetics and Genomics

                This work is licensed under a Creative Commons Attribution-NonCommercial-No Derivative Works 3.0 License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/

                History
                : 30 January 2013
                : 18 April 2013
                Categories
                Review

                Genetics
                collaborative research,electronic medical records,genetics and genomics,genome-wide association studies,personalized medicine

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