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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2019.01059

Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned from ClinGen and eMERGE

 Marc S. Williams1*, Casey O. Taylor2,  Nephi A. Walton3, Scott R. Goehringer4, Samuel Aronson5, Robert R. Freimuth6,  Luke V. Rasmussen7,  Eric S. Hall8,  Cynthia A. Prows9, Wendy K. Chung10,  Alexander Fedotov11, Jordan Nestor12, Chunhua Weng13,  Robb K. Rowley14, Georgia L. Wiesner15, Gail P. Jarvik16 and Guilherme Del Fiol17
  • 1Geisinger Health System, United States
  • 2Division of General Internal Medicine and Division Health Sciences Informatics, Department of Medicine, School of Medicine, Johns Hopkins University, United States
  • 3Genomic Medicine Institute, Geisinger Medical Center, United States
  • 4Other, United States
  • 5Personalized Medicine/Laboratory for Molecular Medicine, Partners Healthcare, United States
  • 6Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, United States
  • 7Division of Health and Biomedical Informatics, Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, United States
  • 8Department of Pediatrics, Cincinnati Children's Hospital Medical Center, United States
  • 9Division of Human Genetics, Cincinnati Children's Hospital Medical Center, United States
  • 10Departments of Pediatrics and Medicine, Columbia University, United States
  • 11Irving Institute for Clinical and Translational Research, Columbia University, United States
  • 12Department of Medicine, Division of Nephrology, Columbia University, United States
  • 13Department of Biomedical Informatics, Columbia University, United States
  • 14National Human Genome Research Institute, National Institutes of Health (NIH), United States
  • 15Division of Genetic Medicine, Department of Internal Medicine, Vanderbilt University, United States
  • 16Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, United States
  • 17Biomedical Informatics, The University of Utah, United States

Genomic knowledge is being translated into clinical care. To fully realize the value, it is critical to place credible information in the hands of clinicians in time to support clinical decision-making. The electronic health record is an essential component of clinician workflow. Utilizing the electronic health record to present information to support the use of genomic medicine in clinical care to improve outcomes represents a tremendous opportunity. However, there are numerous barriers that prevent the effective use of the electronic health record for this purpose. The electronic health record working groups of the electronic MEdical Records and GEnomics network (eMERGE) and the Clinical Genome Resource (ClinGen) project, along with other groups, have been defining these barriers, to allow the development of solutions that can be tested using implementation pilots. In this paper, we present ‘lessons learned’ from these efforts to inform future efforts leading to the development of effective and sustainable solutions that will support the realization of genomic medicine.

Keywords: Genomics, Electronic Health Record - EHR, Education, Clinical decision support (CDS), Infobutton, knowledge synthesis, interoperability, implementation (key words)

Received: 03 Jul 2019; Accepted: 03 Oct 2019.

Copyright: © 2019 Williams, Taylor, Walton, Goehringer, Aronson, Freimuth, Rasmussen, Hall, Prows, Chung, Fedotov, Nestor, Weng, Rowley, Wiesner, Jarvik and Del Fiol. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Marc S. Williams, Geisinger Health System, Danville, Pennsylvania, United States,