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

Curr Genet Med Rep. 2014 Dec 1;2(4):201-211. doi: 10.1007/s40142-014-0051-9.


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.

Keywords: 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.