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A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record.

Publication ,  Journal Article
Campbell, WS; Carter, AB; Cushman-Vokoun, AM; Greiner, TC; Dash, RC; Routbort, M; de Baca, ME; Campbell, JR
Published in: J Mol Diagn
May 2019

Incorporating genetic variant data into the electronic health record (EHR) in discrete computable fashion has vexed the informatics community for years. Genetic sequence test results are typically communicated by the molecular laboratory and stored in the EHR as textual documents. Although text documents are useful for human readability and initial use, they are not conducive for data retrieval and reuse. As a result, clinicians often struggle to find historical gene sequence results on a series of oncology patients within the EHR that might influence the care of the current patient. Second, identification of patients with specific mutation results in the EHR who are now eligible for new and/or changing therapy is not easily accomplished. Third, the molecular laboratory is challenged to monitor its sequencing processes for nonrandom process variation and other quality metrics. A novel approach to address each of these issues is presented and demonstrated. The authors use standard Health Level 7 laboratory result message formats in conjunction with international standards, Systematized Nomenclature of Medicine Clinical Terms and Human Genome Variant Society nomenclature, to represent, communicate, and store discrete gene sequence data within the EHR in a scalable fashion. This information management plan enables the support of the clinician at the point of care, enhances population management, and facilitates audits for maintaining laboratory quality.

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Published In

J Mol Diagn

DOI

EISSN

1943-7811

Publication Date

May 2019

Volume

21

Issue

3

Start / End Page

408 / 417

Location

United States

Related Subject Headings

  • Terminology as Topic
  • Sequence Analysis, DNA
  • Reference Standards
  • Pathology, Molecular
  • Pathology
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Electronic Health Records
  • Base Sequence
  • 3211 Oncology and carcinogenesis
 

Citation

APA
Chicago
ICMJE
MLA
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Campbell, W. S., Carter, A. B., Cushman-Vokoun, A. M., Greiner, T. C., Dash, R. C., Routbort, M., … Campbell, J. R. (2019). A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record. J Mol Diagn, 21(3), 408–417. https://doi.org/10.1016/j.jmoldx.2018.12.002
Campbell, Walter S., Alexis B. Carter, Allison M. Cushman-Vokoun, Timothy C. Greiner, Rajesh C. Dash, Mark Routbort, Monica E. de Baca, and James R. Campbell. “A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record.J Mol Diagn 21, no. 3 (May 2019): 408–17. https://doi.org/10.1016/j.jmoldx.2018.12.002.
Campbell WS, Carter AB, Cushman-Vokoun AM, Greiner TC, Dash RC, Routbort M, et al. A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record. J Mol Diagn. 2019 May;21(3):408–17.
Campbell, Walter S., et al. “A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record.J Mol Diagn, vol. 21, no. 3, May 2019, pp. 408–17. Pubmed, doi:10.1016/j.jmoldx.2018.12.002.
Campbell WS, Carter AB, Cushman-Vokoun AM, Greiner TC, Dash RC, Routbort M, de Baca ME, Campbell JR. A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record. J Mol Diagn. 2019 May;21(3):408–417.
Journal cover image

Published In

J Mol Diagn

DOI

EISSN

1943-7811

Publication Date

May 2019

Volume

21

Issue

3

Start / End Page

408 / 417

Location

United States

Related Subject Headings

  • Terminology as Topic
  • Sequence Analysis, DNA
  • Reference Standards
  • Pathology, Molecular
  • Pathology
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Electronic Health Records
  • Base Sequence
  • 3211 Oncology and carcinogenesis