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

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.