Genomic considerations for FHIR®; eMERGE implementation lessons.

TitleGenomic considerations for FHIR®; eMERGE implementation lessons.
Publication TypeJournal Article
Year of Publication2021
AuthorsMurugan, M, Babb, LJ, Taylor, COverby, Rasmussen, LV, Freimuth, RR, Venner, E, Yan, F, Yi, V, Granite, SJ, Zouk, H, Aronson, SJ, Power, K, Fedotov, A, Crosslin, DR, Fasel, D, Jarvik, GP, Hakonarson, H, Bangash, H, Kullo, IJ, Connolly, JJ, Nestor, JG, Caraballo, PJ, Wei, WQ, Wiley, K, Rehm, HL, Gibbs, RA
JournalJ Biomed Inform
Volume118
Pagination103795
Date Published2021 06
ISSN1532-0480
KeywordsElectronic Health Records, Genomics, Health Level Seven, Humans, Medical Informatics, Precision Medicine
Abstract

Structured representation of clinical genetic results is necessary for advancing precision medicine. The Electronic Medical Records and Genomics (eMERGE) Network's Phase III program initially used a commercially developed XML message format for standardized and structured representation of genetic results for electronic health record (EHR) integration. In a desire to move towards a standard representation, the network created a new standardized format based upon Health Level Seven Fast Healthcare Interoperability Resources (HL7® FHIR®), to represent clinical genomics results. These new standards improve the utility of HL7® FHIR® as an international healthcare interoperability standard for management of genetic data from patients. This work advances the establishment of standards that are being designed for broad adoption in the current health information technology landscape.

DOI10.1016/j.jbi.2021.103795
Alternate JournalJ Biomed Inform
PubMed ID33930535
PubMed Central IDPMC8583906
Grant ListU01 HG008676 / HG / NHGRI NIH HHS / United States
U01 HG008657 / HG / NHGRI NIH HHS / United States
U01 HG006382 / HG / NHGRI NIH HHS / United States
L30 DK122442 / DK / NIDDK NIH HHS / United States
U01 HG008672 / HG / NHGRI NIH HHS / United States
U01 HG008684 / HG / NHGRI NIH HHS / United States
U01 HG008679 / HG / NHGRI NIH HHS / United States
U01 HG008666 / HG / NHGRI NIH HHS / United States
U54 MD007593 / MD / NIMHD NIH HHS / United States
U01 HG008680 / HG / NHGRI NIH HHS / United States
U01 HG008685 / HG / NHGRI NIH HHS / United States
U01 HG006379 / HG / NHGRI NIH HHS / United States
U01 HG008664 / HG / NHGRI NIH HHS / United States
U41 HG006627 / HG / NHGRI NIH HHS / United States
U01 HG008701 / HG / NHGRI NIH HHS / United States
U01 HG008673 / HG / NHGRI NIH HHS / United States
T32 DK108741 / DK / NIDDK NIH HHS / United States