Genomic considerations for FHIR®; eMERGE implementation lessons

Mullai Murugan; Lawrence J. Babb; Casey Overby Taylor; Luke V. Rasmussen; Robert R. Freimuth; Eric Venner; Fei Yan; Victoria Yi; Stephen J. Granite; Hana Zouk; Samuel J. Aronson; Kevin Power; Alex Fedotov; David R. Crosslin; David Fasel; Gail P. Jarvik; Hakon Hakonarson; Hana Bangash; Iftikhar J. Kullo; John J. Connolly; Jordan G. Nestor; Pedro J. Caraballo; Wei Qi Wei; Ken Wiley; Heidi L. Rehm; Richard A. Gibbs

doi:10.1016/j.jbi.2021.103795

Genomic considerations for FHIR®; eMERGE implementation lessons

Mullai Murugan, Lawrence J. Babb, Casey Overby Taylor, Luke V. Rasmussen, Robert R. Freimuth, Eric Venner, Fei Yan, Victoria Yi, Stephen J. Granite, Hana Zouk, Samuel J. Aronson, Kevin Power, Alex Fedotov, David R. Crosslin, David Fasel, Gail P. Jarvik, Hakon Hakonarson, Hana Bangash, Iftikhar J. Kullo, John J. ConnollyJordan G. Nestor, Pedro J. Caraballo, Wei Qi Wei, Ken Wiley, Heidi L. Rehm, Richard A. Gibbs

Research output: Contribution to journal › Comment/debate › peer-review

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.

Original language	English (US)
Article number	103795
Journal	Journal of Biomedical Informatics
Volume	118
DOIs	https://doi.org/10.1016/j.jbi.2021.103795
State	Published - Jun 2021

Keywords

Clinical decision support
Clinical genomics
Electronic health record (EHR)
Genetic test results
HL7® FHIR® standard
Interoperability

ASJC Scopus subject areas

Health Informatics
Computer Science Applications

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10.1016/j.jbi.2021.103795

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Murugan, M., Babb, L. J., Overby Taylor, C., Rasmussen, L. V., Freimuth, R. R., Venner, E., Yan, F., Yi, V., Granite, S. J., Zouk, H., Aronson, S. J., Power, K., Fedotov, A., Crosslin, D. R., Fasel, D., Jarvik, G. P., Hakonarson, H., Bangash, H., Kullo, I. J., ... Gibbs, R. A. (2021). Genomic considerations for FHIR®; eMERGE implementation lessons. Journal of Biomedical Informatics, 118, Article 103795. https://doi.org/10.1016/j.jbi.2021.103795

Murugan, M, Babb, LJ, Overby Taylor, C, 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 2021, 'Genomic considerations for FHIR®; eMERGE implementation lessons', Journal of Biomedical Informatics, vol. 118, 103795. https://doi.org/10.1016/j.jbi.2021.103795

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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 = "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",

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AU - Murugan, Mullai

AU - Babb, Lawrence J.

AU - Overby Taylor, Casey

AU - Rasmussen, Luke V.

AU - Freimuth, Robert R.

AU - Venner, Eric

AU - Yan, Fei

AU - Yi, Victoria

AU - Granite, Stephen J.

AU - Zouk, Hana

AU - Aronson, Samuel J.

AU - Power, Kevin

AU - Fedotov, Alex

AU - Crosslin, David R.

AU - Fasel, David

AU - Jarvik, Gail P.

AU - Hakonarson, Hakon

AU - Bangash, Hana

AU - Kullo, Iftikhar J.

AU - Connolly, John J.

AU - Nestor, Jordan G.

AU - Caraballo, Pedro J.

AU - Wei, Wei Qi

AU - Wiley, Ken

AU - Rehm, Heidi L.

AU - Gibbs, Richard A.

PY - 2021/6

Y1 - 2021/6

N2 - 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.

AB - 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.

KW - Clinical decision support

KW - Clinical genomics

KW - Electronic health record (EHR)

KW - Genetic test results

KW - HL7® FHIR® standard

KW - Interoperability

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Genomic considerations for FHIR®; eMERGE implementation lessons

Abstract

Keywords

ASJC Scopus subject areas

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