Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)759-768
Number of pages10
JournalGenetics in medicine : official journal of the American College of Medical Genetics
Volume24
Issue number4
DOIs
StatePublished - Apr 1 2022

Keywords

  • Clinical testing
  • Pharmacogene
  • Pharmacogenetic
  • Pharmacogenomic
  • Pharmacogenomic nomenclature

ASJC Scopus subject areas

  • Genetics(clinical)

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