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

Samuel Aronson, Lawrence Babb, Darren Ames, Richard A. Gibbs, Eric Venner, John J. Connelly, Keith Marsolo, Chunhua Weng, Marc S. Williams, Andrea L. Hartzler, Wayne H. Liang, James D. Ralston, Emily Beth Devine, Shawn Murphy, Christopher G. Chute, Pedro Caraballo, Iftikhar Jan Kullo, Robert Freimuth, Luke V. Rasmussen, Firas H. WehbeJosh F. Peterson, Jamie R. Robinson, Ken Wiley, Casey Overby Taylor

Research output: Contribution to journalArticle

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1375-1381
Number of pages7
JournalJournal of the American Medical Informatics Association
Issue number10
StatePublished - Oct 1 2018


ASJC Scopus subject areas

  • Health Informatics

Cite this

Aronson, S., Babb, L., Ames, D., Gibbs, R. A., Venner, E., Connelly, J. J., Marsolo, K., Weng, C., Williams, M. S., Hartzler, A. L., Liang, W. H., Ralston, J. D., Devine, E. B., Murphy, S., Chute, C. G., Caraballo, P., Kullo, I. J., Freimuth, R., Rasmussen, L. V., ... Overby Taylor, C. (2018). Empowering genomic medicine by establishing critical sequencing result data flows: The eMERGE example. Journal of the American Medical Informatics Association, 25(10), 1375-1381. https://doi.org/10.1093/jamia/ocy051