An ancillary genomics system to support the return of pharmacogenomic results

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

*Corresponding author for this work

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)306-310
Number of pages5
JournalJournal of the American Medical Informatics Association
Volume26
Issue number4
DOIs
StatePublished - Feb 19 2019

Fingerprint

Clinical Decision Support Systems
Electronic Health Records
Pharmacogenetics
Genomics
Information Storage and Retrieval
Phenotype

Keywords

  • electronic health record
  • genetic testing
  • pharmacogenomics

ASJC Scopus subject areas

  • Health Informatics

Cite this

@article{cfb20bc8dfa542349b48ce353f1b8976,
title = "An ancillary genomics system to support the return of pharmacogenomic results",
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.",
keywords = "electronic health record, genetic testing, pharmacogenomics",
author = "Rasmussen, {Luke V.} and Smith, {Maureen E} and Federico Almaraz and Persell, {Stephen D} and Rasmussen-Torvik, {Laura Jarmila} and Pacheco, {Jennifer A.} and Chisholm, {Rex L} and Carl Christensen and Herr, {Timothy M.} and Firas Wehbe and Starren, {Justin B}",
year = "2019",
month = "2",
day = "19",
doi = "10.1093/jamia/ocy187",
language = "English (US)",
volume = "26",
pages = "306--310",
journal = "Journal of the American Medical Informatics Association : JAMIA",
issn = "1067-5027",
publisher = "Oxford University Press",
number = "4",

}

An ancillary genomics system to support the return of pharmacogenomic results. / Rasmussen, Luke V.; Smith, Maureen E; Almaraz, Federico; Persell, Stephen D; Rasmussen-Torvik, Laura Jarmila; Pacheco, Jennifer A.; Chisholm, Rex L; Christensen, Carl; Herr, Timothy M.; Wehbe, Firas; Starren, Justin B.

In: Journal of the American Medical Informatics Association, Vol. 26, No. 4, 19.02.2019, p. 306-310.

Research output: Contribution to journalArticle

TY - JOUR

T1 - An ancillary genomics system to support the return of pharmacogenomic results

AU - Rasmussen, Luke V.

AU - Smith, Maureen E

AU - Almaraz, Federico

AU - Persell, Stephen D

AU - Rasmussen-Torvik, Laura Jarmila

AU - Pacheco, Jennifer A.

AU - Chisholm, Rex L

AU - Christensen, Carl

AU - Herr, Timothy M.

AU - Wehbe, Firas

AU - Starren, Justin B

PY - 2019/2/19

Y1 - 2019/2/19

N2 - 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.

AB - 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.

KW - electronic health record

KW - genetic testing

KW - pharmacogenomics

UR - http://www.scopus.com/inward/record.url?scp=85062639716&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85062639716&partnerID=8YFLogxK

U2 - 10.1093/jamia/ocy187

DO - 10.1093/jamia/ocy187

M3 - Article

VL - 26

SP - 306

EP - 310

JO - Journal of the American Medical Informatics Association : JAMIA

JF - Journal of the American Medical Informatics Association : JAMIA

SN - 1067-5027

IS - 4

ER -