Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Document Type
Article
Publication Date
4-2022
Identifier
DOI: 10.1016/j.gim.2021.12.009
Abstract
Pharmacogenomic testing interrogates germline sequence variants implicated in interindividual drug response variability to infer a drug response phenotype and to guide medication management for certain drugs. Specifically, discrete aspects of pharmacokinetics, such as drug metabolism, and pharmacodynamics, as well as drug sensitivity, can be predicted by genes that code for proteins involved in these pathways. Pharmacogenomics is unique and differs from inherited disease genetics because the drug response phenotype can be drug-dependent and is often unrecognized until an unexpected drug reaction occurs or a patient fails to respond to a medication. Genes and variants with sufficiently high levels of evidence and consensus may be included in a clinical pharmacogenomic test; however, result interpretation and phenotype prediction can be challenging for some genes and medications. This document provides a resource for laboratories to develop and implement clinical pharmacogenomic testing by summarizing publicly available resources and detailing best practices for pharmacogenomic nomenclature, testing, result interpretation, and reporting.
Journal Title
Genetics in medicine : official journal of the American College of Medical Genetics
Volume
24
Issue
4
First Page
759
Last Page
768
MeSH Keywords
Genetics, Medical; Genomics; Humans; Pharmacogenetics; Pharmacogenomic Testing; Phenotype; United States
Keywords
Clinical testing; Pharmacogene; Pharmacogenetic; Pharmacogenomic; Pharmacogenomic nomenclature
Recommended Citation
Tayeh MK, Gaedigk A, Goetz MP, et al. Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022;24(4):759-768. doi:10.1016/j.gim.2021.12.009
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