An ancillary genomics system to support the return of pharmacogenomic results.


Journal

Journal of the American Medical Informatics Association : JAMIA
ISSN: 1527-974X
Titre abrégé: J Am Med Inform Assoc
Pays: England
ID NLM: 9430800

Informations de publication

Date de publication:
01 04 2019
Historique:
received: 13 06 2017
revised: 15 10 2018
accepted: 20 12 2018
pubmed: 20 2 2019
medline: 27 2 2020
entrez: 20 2 2019
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 30778576
pii: 5342160
doi: 10.1093/jamia/ocy187
pmc: PMC6402311
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

306-310

Subventions

Organisme : NLM NIH HHS
ID : F31 LM012492
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG006388
Pays : United States

Informations de copyright

© The Author(s) 2019. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For permissions, please email: journals.permissions@oup.com.

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Auteurs

Luke V Rasmussen (LV)

Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

Maureen E Smith (ME)

Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.
Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

Federico Almaraz (F)

Department of Information Technology, Northwestern Memorial HealthCare, Chicago, IL.

Stephen D Persell (SD)

Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

Laura J Rasmussen-Torvik (LJ)

Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

Jennifer A Pacheco (JA)

Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

Rex L Chisholm (RL)

Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

Carl Christensen (C)

Department of Information Technology, Northwestern Memorial HealthCare, Chicago, IL.
Department of Information Technology, Northwestern University Feinberg School of Medicine, Chicago, IL.

Timothy M Herr (TM)

Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

Firas H Wehbe (FH)

Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

Justin B Starren (JB)

Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

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