An ancillary genomics system to support the return of pharmacogenomic results

Luke V. Rasmussen; Maureen E. Smith; Federico Almaraz; Stephen D. Persell; Laura J. Rasmussen-Torvik; Jennifer A. Pacheco; Rex L. Chisholm; Carl Christensen; Timothy M. Herr; Firas H. Wehbe; Justin B. Starren

doi:10.1093/jamia/ocy187

An ancillary genomics system to support the return of pharmacogenomic results

Luke V. Rasmussen^*, Maureen E. Smith, Federico Almaraz, Stephen D. Persell, Laura J. Rasmussen-Torvik, Jennifer A. Pacheco, Rex L. Chisholm, Carl Christensen, Timothy M. Herr, Firas H. Wehbe, Justin B. Starren

^*Corresponding author for this work

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

15 Scopus citations

Abstract

Existing approaches to managing genetic and genomic test results from external laboratories typically include filing of text reports within the electronic health record, making them unavailable in many cases for clinical decision support. Even when structured computable results are available, the lack of adopted standards requires considerations for processing the results into actionable knowledge, in addition to storage and management of the data. Here, we describe the design and implementation of an ancillary genomics system used to receive and process heterogeneous results from external laboratories, which returns a descriptive phenotype to the electronic health record in support of pharmacogenetic clinical decision support.

Original language	English (US)
Pages (from-to)	306-310
Number of pages	5
Journal	Journal of the American Medical Informatics Association
Volume	26
Issue number	4
DOIs	https://doi.org/10.1093/jamia/ocy187
State	Published - Feb 19 2019

Funding

This work was funded by the National Human Genome Research Institute through grant U01HG006388.

Keywords

electronic health record
genetic testing
pharmacogenomics

ASJC Scopus subject areas

Health Informatics

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10.1093/jamia/ocy187

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Rasmussen, L. V., Smith, M. E., Almaraz, F., Persell, S. D., Rasmussen-Torvik, L. J., Pacheco, J. A., Chisholm, R. L., Christensen, C., Herr, T. M., Wehbe, F. H., & Starren, J. B. (2019). An ancillary genomics system to support the return of pharmacogenomic results. Journal of the American Medical Informatics Association, 26(4), 306-310. https://doi.org/10.1093/jamia/ocy187

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AU - Pacheco, Jennifer A.

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An ancillary genomics system to support the return of pharmacogenomic results

Abstract

Funding

Keywords

ASJC Scopus subject areas

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