Evidence map›Paper›PMID 27441996›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC).

Kelly E Caudle, Henry M Dunnenberger, Robert R Freimuth, Josh F Peterson, Jonathan D Burlison, Michelle Whirl-Carrillo, Stuart A Scott, Heidi L Rehm, Marc S Williams, Teri E Klein and 2 more

Abstract readConsensus Statement
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 263 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
263citing papers in PubMed, 8 pooled it
–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

263 citing papers in PubMed, 8 syntheses or guidelines pooled it.

  1. Guideline
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  3. CYP2D6 genotype and associated 5-HTClinical and translational science · 2025
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  4. Frontiers in pharmacology · 2025
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203 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Kelly E CaudleDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.ORCID 0000-0002-5663-3793
Henry M DunnenbergerCenter for Molecular Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.ORCID 0000-0002-6211-1713
Robert R FreimuthDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Josh F PetersonDepartment of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Jonathan D BurlisonDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Michelle Whirl-CarrilloDepartment of Genetics, Stanford University, Stanford, California, USA.
Stuart A ScottDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.ORCID 0000-0001-5720-1864
Heidi L RehmBrigham and Women's Hospital and Harvard Medical School, Boston, MA, USA; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.ORCID 0000-0002-6025-0015
Marc S WilliamsGenomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Teri E KleinDepartment of Genetics, Stanford University, Stanford, California, USA.ORCID 0000-0001-5527-6475
Mary V RellingDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
James M HoffmanDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

Funding

PharmGKB: pharmacogenomics knowledge for precision medicineR24GM061374 · NIGMS · STANFORD UNIVERSITY · PI ALTMAN, RUSS BIAGIO, KLEIN, TERI ELLEN · 2010 to 2018
$25.2M
Pharmacogenetics of Phase II Drug Metabolizing EnzymesU19GM061388 · NIGMS · MAYO CLINIC ROCHESTER · PI WANG, LIEWEI, WEINSHILBOUM, RICHARD M. · 2010 to 2014
$15.8M
Clinical Pharmacogenetics Implementation Consortium (CPIC)R24GM115264 · NIGMS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI KLEIN, TERI ELLEN, RELLING, MARY V · 2015 to 2017
$3.6M
The Pharmacogenomic Control of Clopidogrel Response in Acute Coronary SyndromesK23GM104401 · NIGMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SCOTT, STUART ALEXANDER · 2013 to 2016
$778k
NIGMS NIH HHS K23 GM104401NIGMS NIH HHS R24 GM061374NIGMS NIH HHS R24 GM115264NIGMS NIH HHS U19 GM061388
6 · The paper itself

Abstract

introductionReporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not standardized. Our goal was to develop terms that can be broadly applied to characterize pharmacogenetic allele function and inferred phenotypes. MATERIALS AND

methodsTerms currently used by genetic testing laboratories and in the literature were identified. The Clinical Pharmacogenetics Implementation Consortium (CPIC) used the Delphi method to obtain a consensus and agree on uniform terms among pharmacogenetic experts.

resultsExperts with diverse involvement in at least one area of pharmacogenetics (clinicians, researchers, genetic testing laboratorians, pharmacogenetics implementers, and clinical informaticians; n = 58) participated. After completion of five surveys, a consensus (>70%) was reached with 90% of experts agreeing to the final sets of pharmacogenetic terms. DISCUSSION: The proposed standardized pharmacogenetic terms will improve the understanding and interpretation of pharmacogenetic tests and reduce confusion by maintaining consistent nomenclature. These standard terms can also facilitate pharmacogenetic data sharing across diverse electronic health care record systems with clinical decision support.Genet Med 19 2, 215-223.

Indexed as

Terminology as TopicAllelesElectronic Health RecordsGenetic TestingHumansPharmacogeneticsPhenotypeSurveys and Questionnaires

Identifiers

PMID27441996
PMCPMC5253119

What OpenQuestion holds

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LicenceCC BY
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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.