CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record

Brian H. Shirts; Joseph S. Salama; Samuel J. Aronson; Wendy K. Chung; Stacy W. Gray; Lucia A. Hindorff; Gail P. Jarvik; Sharon E. Plon; Elena M. Stoffel; Peter Z. Tarczy-Hornoch; Eliezer M. Van Allen; Karen E. Weck; Christopher G. Chute; Robert R. Freimuth; Robert W. Grundmeier; Andrea L. Hartzler; Rongling Li; Peggy L. Peissig; Josh F. Peterson; Luke V. Rasmussen; Justin B. Starren; Marc S. Williams; Casey L. Overby

doi:10.1093/jamia/ocv065

CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record

Brian H. Shirts, Joseph S. Salama, Samuel J. Aronson, Wendy K. Chung, Stacy W. Gray, Lucia A. Hindorff, Gail P. Jarvik, Sharon E. Plon, Elena M. Stoffel, Peter Z. Tarczy-Hornoch, Eliezer M. Van Allen, Karen E. Weck, Christopher G. Chute, Robert R. Freimuth, Robert W. Grundmeier, Andrea L. Hartzler, Rongling Li, Peggy L. Peissig, Josh F. Peterson, Luke V. RasmussenJustin B. Starren, Marc S. Williams, Casey L. Overby

Research output: Contribution to journal › Article › peer-review

51 Scopus citations

Abstract

Objective Clinicians' ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need to develop systems to effectively display genetic information in EHRs and augment clinical decision support (CDS). Materials and Methods The National Institutes of Health (NIH)-sponsored Clinical Sequencing Exploratory Research and Electronic Medical Records & Genomics EHR Working Groups conducted a multiphase, iterative process involving working group discussions and 2 surveys in order to determine how genetic and genomic information are currently displayed in EHRs, envision optimal uses for different types of genetic or genomic information, and prioritize areas for EHR improvement. Results There is substantial heterogeneity in how genetic information enters and is documented in EHR systems. Most institutions indicated that genetic information was displayed in multiple locations in their EHRs. Among surveyed institutions, genetic information enters the EHR through multiple laboratory sources and through clinician notes. For laboratory-based data, the source laboratory was the main determinant of the location of genetic information in the EHR. The highest priority recommendation was to address the need to implement CDS mechanisms and content for decision support for medically actionable genetic information. Conclusion Heterogeneity of genetic information flow and importance of source laboratory, rather than clinical content, as a determinant of information representation are major barriers to using genetic information optimally in patient care. Greater effort to develop interoperable systems to receive and consistently display genetic and/or genomic information and alert clinicians to genomic-dependent improvements to clinical care is recommended.

Original language	English (US)
Pages (from-to)	1231-1242
Number of pages	12
Journal	Journal of the American Medical Informatics Association
Volume	22
Issue number	6
DOIs	https://doi.org/10.1093/jamia/ocv065
State	Published - 2015
Externally published	Yes

Keywords

Clinical decision support
Electronic health records
Genetics
Survey
Translational research

ASJC Scopus subject areas

Health Informatics

Access to Document

10.1093/jamia/ocv065

Cite this

Shirts, B. H., Salama, J. S., Aronson, S. J., Chung, W. K., Gray, S. W., Hindorff, L. A., Jarvik, G. P., Plon, S. E., Stoffel, E. M., Tarczy-Hornoch, P. Z., Van Allen, E. M., Weck, K. E., Chute, C. G., Freimuth, R. R., Grundmeier, R. W., Hartzler, A. L., Li, R., Peissig, P. L., Peterson, J. F., ... Overby, C. L. (2015). CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record. Journal of the American Medical Informatics Association, 22(6), 1231-1242. https://doi.org/10.1093/jamia/ocv065

Shirts, BH, Salama, JS, Aronson, SJ, Chung, WK, Gray, SW, Hindorff, LA, Jarvik, GP, Plon, SE, Stoffel, EM, Tarczy-Hornoch, PZ, Van Allen, EM, Weck, KE, Chute, CG, Freimuth, RR, Grundmeier, RW, Hartzler, AL, Li, R, Peissig, PL, Peterson, JF, Rasmussen, LV, Starren, JB, Williams, MS & Overby, CL 2015, 'CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record', Journal of the American Medical Informatics Association, vol. 22, no. 6, pp. 1231-1242. https://doi.org/10.1093/jamia/ocv065

@article{b4b7c884ca8a45fe858be2bac574bb9e,

title = "CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record",

abstract = "Objective Clinicians' ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need to develop systems to effectively display genetic information in EHRs and augment clinical decision support (CDS). Materials and Methods The National Institutes of Health (NIH)-sponsored Clinical Sequencing Exploratory Research and Electronic Medical Records & Genomics EHR Working Groups conducted a multiphase, iterative process involving working group discussions and 2 surveys in order to determine how genetic and genomic information are currently displayed in EHRs, envision optimal uses for different types of genetic or genomic information, and prioritize areas for EHR improvement. Results There is substantial heterogeneity in how genetic information enters and is documented in EHR systems. Most institutions indicated that genetic information was displayed in multiple locations in their EHRs. Among surveyed institutions, genetic information enters the EHR through multiple laboratory sources and through clinician notes. For laboratory-based data, the source laboratory was the main determinant of the location of genetic information in the EHR. The highest priority recommendation was to address the need to implement CDS mechanisms and content for decision support for medically actionable genetic information. Conclusion Heterogeneity of genetic information flow and importance of source laboratory, rather than clinical content, as a determinant of information representation are major barriers to using genetic information optimally in patient care. Greater effort to develop interoperable systems to receive and consistently display genetic and/or genomic information and alert clinicians to genomic-dependent improvements to clinical care is recommended.",

keywords = "Clinical decision support, Electronic health records, Genetics, Survey, Translational research",

author = "Shirts, {Brian H.} and Salama, {Joseph S.} and Aronson, {Samuel J.} and Chung, {Wendy K.} and Gray, {Stacy W.} and Hindorff, {Lucia A.} and Jarvik, {Gail P.} and Plon, {Sharon E.} and Stoffel, {Elena M.} and Tarczy-Hornoch, {Peter Z.} and {Van Allen}, {Eliezer M.} and Weck, {Karen E.} and Chute, {Christopher G.} and Freimuth, {Robert R.} and Grundmeier, {Robert W.} and Hartzler, {Andrea L.} and Rongling Li and Peissig, {Peggy L.} and Peterson, {Josh F.} and Rasmussen, {Luke V.} and Starren, {Justin B.} and Williams, {Marc S.} and Overby, {Casey L.}",

note = "Publisher Copyright: {\textcopyright} The Author 2015.",

year = "2015",

doi = "10.1093/jamia/ocv065",

language = "English (US)",

volume = "22",

pages = "1231--1242",

journal = "Journal of the American Medical Informatics Association",

issn = "1067-5027",

publisher = "Oxford University Press",

number = "6",

}

TY - JOUR

T1 - CSER and eMERGE

T2 - Current and potential state of the display of genetic information in the electronic health record

AU - Shirts, Brian H.

AU - Salama, Joseph S.

AU - Aronson, Samuel J.

AU - Chung, Wendy K.

AU - Gray, Stacy W.

AU - Hindorff, Lucia A.

AU - Jarvik, Gail P.

AU - Plon, Sharon E.

AU - Stoffel, Elena M.

AU - Tarczy-Hornoch, Peter Z.

AU - Van Allen, Eliezer M.

AU - Weck, Karen E.

AU - Chute, Christopher G.

AU - Freimuth, Robert R.

AU - Grundmeier, Robert W.

AU - Hartzler, Andrea L.

AU - Li, Rongling

AU - Peissig, Peggy L.

AU - Peterson, Josh F.

AU - Rasmussen, Luke V.

AU - Starren, Justin B.

AU - Williams, Marc S.

AU - Overby, Casey L.

PY - 2015

Y1 - 2015

N2 - Objective Clinicians' ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need to develop systems to effectively display genetic information in EHRs and augment clinical decision support (CDS). Materials and Methods The National Institutes of Health (NIH)-sponsored Clinical Sequencing Exploratory Research and Electronic Medical Records & Genomics EHR Working Groups conducted a multiphase, iterative process involving working group discussions and 2 surveys in order to determine how genetic and genomic information are currently displayed in EHRs, envision optimal uses for different types of genetic or genomic information, and prioritize areas for EHR improvement. Results There is substantial heterogeneity in how genetic information enters and is documented in EHR systems. Most institutions indicated that genetic information was displayed in multiple locations in their EHRs. Among surveyed institutions, genetic information enters the EHR through multiple laboratory sources and through clinician notes. For laboratory-based data, the source laboratory was the main determinant of the location of genetic information in the EHR. The highest priority recommendation was to address the need to implement CDS mechanisms and content for decision support for medically actionable genetic information. Conclusion Heterogeneity of genetic information flow and importance of source laboratory, rather than clinical content, as a determinant of information representation are major barriers to using genetic information optimally in patient care. Greater effort to develop interoperable systems to receive and consistently display genetic and/or genomic information and alert clinicians to genomic-dependent improvements to clinical care is recommended.

AB - Objective Clinicians' ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need to develop systems to effectively display genetic information in EHRs and augment clinical decision support (CDS). Materials and Methods The National Institutes of Health (NIH)-sponsored Clinical Sequencing Exploratory Research and Electronic Medical Records & Genomics EHR Working Groups conducted a multiphase, iterative process involving working group discussions and 2 surveys in order to determine how genetic and genomic information are currently displayed in EHRs, envision optimal uses for different types of genetic or genomic information, and prioritize areas for EHR improvement. Results There is substantial heterogeneity in how genetic information enters and is documented in EHR systems. Most institutions indicated that genetic information was displayed in multiple locations in their EHRs. Among surveyed institutions, genetic information enters the EHR through multiple laboratory sources and through clinician notes. For laboratory-based data, the source laboratory was the main determinant of the location of genetic information in the EHR. The highest priority recommendation was to address the need to implement CDS mechanisms and content for decision support for medically actionable genetic information. Conclusion Heterogeneity of genetic information flow and importance of source laboratory, rather than clinical content, as a determinant of information representation are major barriers to using genetic information optimally in patient care. Greater effort to develop interoperable systems to receive and consistently display genetic and/or genomic information and alert clinicians to genomic-dependent improvements to clinical care is recommended.

KW - Clinical decision support

KW - Electronic health records

KW - Genetics

KW - Survey

KW - Translational research

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U2 - 10.1093/jamia/ocv065

DO - 10.1093/jamia/ocv065

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SN - 1067-5027

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JO - Journal of the American Medical Informatics Association

JF - Journal of the American Medical Informatics Association

IS - 6

ER -

CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record

Abstract

Keywords

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