@article{b6761d4d3aac4068b6182dea0b1d2f17,
title = "Genomic considerations for FHIR{\textregistered}; eMERGE implementation lessons",
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{\textregistered} FHIR{\textregistered}), to represent clinical genomics results. These new standards improve the utility of HL7{\textregistered} FHIR{\textregistered} 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.",
keywords = "Clinical decision support, Clinical genomics, Electronic health record (EHR), Genetic test results, HL7{\textregistered} FHIR{\textregistered} standard, Interoperability",
author = "Mullai Murugan and Babb, {Lawrence J.} and {Overby Taylor}, Casey and Rasmussen, {Luke V.} and Freimuth, {Robert R.} and Eric Venner and Fei Yan and Victoria Yi and Granite, {Stephen J.} and Hana Zouk and Aronson, {Samuel J.} and Kevin Power and Alex Fedotov and Crosslin, {David R.} and David Fasel and Jarvik, {Gail P.} and Hakon Hakonarson and Hana Bangash and Kullo, {Iftikhar J.} and Connolly, {John J.} and Nestor, {Jordan G.} and Caraballo, {Pedro J.} and Wei, {Wei Qi} and Ken Wiley and Rehm, {Heidi L.} and Gibbs, {Richard A.}",
note = "Funding Information: 1. Members of the HL7{\textregistered} Clinical Genomics Workgroup; 2. Members of the eMERGE EHRI Workgroup; 3. Steve Ordhal contributed through Microsoft's Partner Network that provides enhanced services to Johns Hopkins University. 4. Members of the BCM-HGSC Clinical Laboratory., This work was conducted under Phase III of the eMERGE Network, which was initiated and funded by the NHGRI through the following grants: U01HG008657 (Kaiser Permanente Washington/University of Washington); U01HG008685 (Brigham and Women's Hospital); U01HG008672 (Vanderbilt University Medical Center); U01HG008666 (Cincinnati Children's Hospital Medical Center); U01HG006379 (Mayo Clinic); U01HG008679 (Geisinger Clinic); U01HG008680 (Columbia University Health Sciences); U01HG008684 (Children's Hospital of Philadelphia); U01HG008673 (Northwestern University); U01HG008701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG008676 (Partners Healthcare/Broad Institute); U01HG008664 (Baylor College of Medicine); and U54MD007593 (Meharry Medical College). Funding Information: This work was conducted under Phase III of the eMERGE Network, which was initiated and funded by the NHGRI through the following grants: U01HG008657 (Kaiser Permanente Washington/University of Washington); U01HG008685 (Brigham and Women{\textquoteright}s Hospital); U01HG008672 (Vanderbilt University Medical Center); U01HG008666 (Cincinnati Children{\textquoteright}s Hospital Medical Center); U01HG006379 (Mayo Clinic); U01HG008679 (Geisinger Clinic); U01HG008680 (Columbia University Health Sciences); U01HG008684 (Children{\textquoteright}s Hospital of Philadelphia); U01HG008673 (Northwestern University); U01HG008701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG008676 (Partners Healthcare/Broad Institute); U01HG008664 (Baylor College of Medicine); and U54MD007593 (Meharry Medical College). Publisher Copyright: {\textcopyright} 2021 Elsevier Inc.",
year = "2021",
month = jun,
doi = "10.1016/j.jbi.2021.103795",
language = "English (US)",
volume = "118",
journal = "Journal of Biomedical Informatics",
issn = "1532-0464",
publisher = "Academic Press Inc.",
}