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

TitleEmpowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.
Publication TypeJournal Article
Year of Publication2018
AuthorsAronson, S, Babb, L, Ames, D, Gibbs, RA, Venner, E, Connelly, JJ, Marsolo, K, Weng, C, Williams, MS, Hartzler, AL, Liang, WH, Ralston, JD, Devine, EBeth, Murphy, S, Chute, CG, Caraballo, PJ, Kullo, IJ, Freimuth, RR, Rasmussen, LV, Wehbe, FH, Peterson, JF, Robinson, JR, Wiley, K, Taylor, COverby
Corporate AuthorseMERGE Network EHRI Working Group
JournalJ Am Med Inform Assoc
Volume25
Issue10
Pagination1375-1381
Date Published2018 10 01
ISSN1527-974X
KeywordsComputer Communication Networks, Electronic Health Records, Genetic Testing, Genome, Human, Genomics, Humans, Information Dissemination, Sequence Analysis, DNA, United States
Abstract

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.

DOI10.1093/jamia/ocy051
Alternate JournalJ Am Med Inform Assoc
PubMed ID29860405
PubMed Central IDPMC6188517
Grant ListU01 HG008657 / HG / NHGRI NIH HHS / United States
U01 HG008680 / HG / NHGRI NIH HHS / United States
U01 HG008685 / HG / NHGRI NIH HHS / United States
U01 HG008672 / HG / NHGRI NIH HHS / United States
U01 HG008666 / HG / NHGRI NIH HHS / United States
U01 HG006379 / HG / NHGRI NIH HHS / United States
U01 HG008679 / HG / NHGRI NIH HHS / United States
U01 HG008684 / HG / NHGRI NIH HHS / United States
U01 HG008673 / HG / NHGRI NIH HHS / United States
U01 HG008701 / HG / NHGRI NIH HHS / United States
U01 HG008676 / HG / NHGRI NIH HHS / United States
U01 HG008664 / HG / NHGRI NIH HHS / United States
T15 LM007442 / LM / NLM NIH HHS / United States
T15 LM007450 / LM / NLM NIH HHS / United States