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Curr Genet Med Rep. 2014 Dec 1;2(4):201-211.

Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record.

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Department of Biomedical Informatics and Medical Education, University of Washington.
Department of Biomedical Informatics and Medical Education, University of Washington ; Department of Pediatrics, University of Washington ; Department of Computer Science and Engineering, University of Washington.
Department of Laboratory Medicine, University of Washington.


Recent successes in the use of gene sequencing for patient care highlight the potential of genomic medicine. For genomics to become a part of usual care, pertinent elements of a patient's genomic test must be communicated to the most appropriate care providers. Electronic medical records may serve as a useful tool for storing and disseminating genomic data. Yet, the structure of existing EMRs and the nature of genomic data pose a number of pragmatic and ethical challenges in their integration. Through a review of the recent genome-EMR integration literature, we explore concrete examples of these challenges, categorized under four key questions: What data will we store? How will we store it? How will we use it? How will we protect it? We conclude that genome-EMR integration requires a rigorous, multi-faceted and interdisciplinary approach of study. Problems facing the field are numerous, but few are intractable.


Computerized Prescriber Order Entry; Genomic medicine; clinical decision support; clinical genomics; clinical informatics; electronic medical records; genotype; implementation science; individualized medicine; personalized medicine; pharmacogenetics; pharmacogenomics; translational research

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