Evidence map›Paper›PMID 25741865›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing.

Adam A Nishimura, Brian H Shirts, Michael O Dorschner, Laura M Amendola, Joe W Smith, Gail P Jarvik, Peter Tarczy-Hornoch

Abstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Advancing Pharmacogenomics from Single-Gene to Preemptive Testing.Annual review of genomics and human genetics · 2022
    Review
  5. Review
  6. Article
  7. An ancillary genomics system to support the return of pharmacogenomic results.Journal of the American Medical Informatics Association : JAMIA · 2019
    Article
  8. Article
  9. Article
  10. Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2016
    Article
  11. Article
  12. Article
  13. Modeling the costs of clinical decision support for genomic precision medicine.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2016
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

Adam A NishimuraDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, Washington, USA.
Brian H ShirtsDepartment of Laboratory Medicine, University of Washington, Seattle, Washington, USA.
Michael O DorschnerDepartment of Laboratory Medicine, University of Washington, Seattle, Washington, USA.
Laura M AmendolaDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.ORCID http://orcid.org/0000-0002-5506-6168
Joe W SmithDepartment of Pharmacy, University of Washington, Seattle, Washington, USA.
Gail P JarvikDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.ORCID http://orcid.org/0000-0002-6710-8708
Peter Tarczy-HornochDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, Washington, USA.

Funding

Institute of Translational Health SciencesUL1TR000423 · NCATS · UNIVERSITY OF WASHINGTON · PI DISIS, MARY L. · 2012 to 2016
$49.4M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Clinical sequencing in cancer: Clinical ethical and technological studiesU01HG006507 · NHGRI · UNIVERSITY OF WASHINGTON · PI JARVIK, GAIL PAIRITZ · 2012 to 2016
$10.6M
NRSA Training CoreTL1TR002318 · NCATS · UNIVERSITY OF WASHINGTON · PI Megan Moore · 2017 to 2026
$8.4M
Genetic Discovery and Application in a Clinical Setting Continuing a PartnershipU01HG006375 · NHGRI · KAISER FOUNDATION HEALTH PLAN OF WASHINGTON · PI JARVIK, GAIL PAIRITZ, LARSON, ERIC B · 2011 to 2014
$4.1M
CSER RoRC Centralized Support Coordinating CenterU01HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI BURKE, WYLIE G., JARVIK, GAIL PAIRITZ · 2013 to 2016
$3.6M
Institute of Translational Health SciencesTL1TR000422 · NCATS · UNIVERSITY OF WASHINGTON · PI DISIS, MARY L. · 2012 to 2016
$2.1M
NCATS NIH HHS TL1 TR000422NCATS NIH HHS TL1 TR002318NCATS NIH HHS UL1 TR000423NCATS NIH HHS UL1TR000423NHGRI NIH HHS U01 HG006375NHGRI NIH HHS U01HG006375NHGRI NIH HHS U01 HG006507NHGRI NIH HHS U01HG006507NHGRI NIH HHS U01 HG007307NHGRI NIH HHS U01HG007307NHGRI NIH HHS U01 HG008657
6 · The paper itself

Abstract

purposeElectronic health records (EHRs) and their associated decision support tools are potentially important means of disseminating a patient's pharmacogenomic profile to his or her health-care providers. We sought to create a proof-of-concept decision support alert system generated from pharmacogenomic incidental findings from exome sequencing.

methodsA pipeline for alerts from exome sequencing tests was created for patients in the New EXome Technology in (NEXT) Medicine study at the University of Washington. Decision support rules using discrete, machine-readable incidental finding results were programmed into a commercial EHR rules engine. An evaluation plan to monitor the alerts in real medical interactions was established.

resultsAlerts were created for 48 actionable pharmacogenomic variants in 11 genes and were launched on 24 September 2014 for University of Washington inpatient care. Of the 94 participants enrolled in the NEXT Medicine study, 49 had one or more pharmacogenomic variants identified for return.

conclusionReflections on the process reveal that while incidental findings can be used to generate decision support alerts, substantial resources are required to ensure that each alert is consistent with rapidly evolving pharmacogenomic literature and is customized to fit in the clinical workflow unique to each incidental finding.

Indexed as

Decision Support Systems, ClinicalExomeHigh-Throughput Nucleotide SequencingIncidental FindingsPharmacogeneticsElectronic Health RecordsGenetic Association StudiesGenetics, MedicalGenetic VariationHumansMedical Order Entry Systems

Identifiers

PMID25741865
PMCPMC4976082

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.