Evidence map›Paper›PMID 41175864›Full record

GuidelineAmerican journal of human genetics2025

The Clinical Pharmacogenetics Implementation Consortium's consensus-based framework for assigning allele function.

Bailey M Tibben, Andrea Gaedigk, Li Gong, Katrin Sangkuhl, Michelle Whirl-Carrillo, Mary V Relling, Roseann S Donnelly, Teri E Klein, Kelly E Caudle

Abstract readGuidelineReview
In one paragraph

Guideline in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature.Clinical pharmacology and therapeutics · 2026
    Review
  9. Review
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

9 authors.

Bailey M TibbenDepartment of Pharmacy and Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, TN, USA.
Andrea GaedigkDivision of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy Research Institute, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA.
Li GongDepartment of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Katrin SangkuhlDepartment of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Michelle Whirl-CarrilloDepartment of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Mary V RellingDepartment of Pharmacy and Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, TN, USA.
Roseann S DonnellyDepartment of Pharmacy and Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, TN, USA; Department of Pharmacy Practice, Massachusetts College of Pharmacy and Health Sciences, Boston, MA, USA.
Teri E KleinDepartment of Biomedical Data Science, Stanford University, Stanford, CA, USA; Department of Medicine and Genetics, Stanford University, Stanford, CA, USA.
Kelly E CaudleDepartment of Pharmacy and Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, TN, USA. Electronic address: kelly.caudle@stjude.org.

Funding

PharmGKB: pharmacogenomics discovery and implementationU24HG010615 · NHGRI · STANFORD UNIVERSITY · PI TERI Ellen KLEIN, Michelle Whirl-Carrillo · 2020 to 2026
$9.5M
Clinical Pharmacogenetics Implementation Consortium (CPIC)U24HG010135 · NHGRI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CAUDLE, KELLY E., KLEIN, TERI ELLEN · 2018 to 2022
$5.4M
Clinical Implementation Resources for Pharmacogenomics (CIRP)U24HG013077 · NHGRI · STANFORD UNIVERSITY · PI CAUDLE, KELLY E., KLEIN, TERI ELLEN · 2023 to 2025
$4.4M
NHGRI NIH HHS U24 HG010135NHGRI NIH HHS U24 HG010615NHGRI NIH HHS U24 HG013077
6 · The paper itself

Abstract

The Clinical Pharmacogenetics Implementation Consortium (CPIC) is dedicated to integrating pharmacogenetic testing into clinical practice by developing and disseminating peer-reviewed, evidence-based gene-drug clinical practice guidelines. A critical component of this effort is the assignment of clinical function to pharmacogene alleles, which informs the translation of genetic test results into actionable prescribing decisions. This technology review outlines the standardized procedures and framework used by CPIC to assign allele clinical functional status through the work of Pharmacogene Curation Expert Panels (PCEPs). These panels, comprising multidisciplinary experts, systematically review and evaluate evidence to assign functional status to pharmacogenetic haplotypes. The process includes rigorous evidence review, use of standardized terminology, and consensus-driven functional assignments. The resulting allele functionality tables and phenotype mapping tables are essential for standardized interpretation of pharmacogenetic test results and the development of CPIC guidelines. This review of the framework used to assign clinical allele function provides transparency and encourages global participation and feedback from the pharmacogenomics community to promote the adoption of CPIC guidelines in clinical practice.

Indexed as

AllelesPharmacogeneticsPharmacogenomic TestingConsensusHaplotypesHumansClinPGxCPICcurationgenotype-phenotype translationimplementationpharmacogeneticspharmacogenomics

Identifiers

PMID41175864
PMCPMC12766749

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.