Document Type
Article
Publication Date
12-4-2025
Identifier
DOI: 10.1016/j.ajhg.2025.10.004; PMCID: PMC12766749
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.
Journal Title
American journal of human genetics
Volume
112
Issue
12
First Page
2842
Last Page
2859
MeSH Keywords
Humans; Alleles; Pharmacogenetics; Consensus; Pharmacogenomic Testing; Haplotypes
PubMed ID
41175864
Keywords
CPIC; ClinPGx; curation; genotype-phenotype translation; implementation; pharmacogenetics; pharmacogenomics
Recommended Citation
Tibben BM, Gaedigk A, Gong L, et al. The Clinical Pharmacogenetics Implementation Consortium's consensus-based framework for assigning allele function. Am J Hum Genet. 2025;112(12):2842-2859. doi:10.1016/j.ajhg.2025.10.004
Comments
Grants and funding
This article is available under the Creative Commons CC-BY-NC-ND license and permits non-commercial use of the work as published, without adaptation or alteration provided the work is fully attributed.
Publisher's Link: https://doi.org/10.1016/j.ajhg.2025.10.004