TY - JOUR
T1 - Clinical pharmacogenomic testing and reporting
T2 - A technical standard of the American College of Medical Genetics and Genomics (ACMG)
AU - ACMG Laboratory Quality Assurance Committee
AU - Tayeh, Marwan K.
AU - Gaedigk, Andrea
AU - Goetz, Matthew P.
AU - Klein, Teri E.
AU - Lyon, Elaine
AU - McMillin, Gwendolyn A.
AU - Rentas, Stefan
AU - Shinawi, Marwan
AU - Pratt, Victoria M.
AU - Scott, Stuart A.
N1 - Funding Information:
The authors would like to thank Sandor Roberts for his administrative support. M.K.T. was an Associate Professor at the Division of Pediatric Genetics, Department of Pediatrics, Metabolism & Genomic Medicine at the University of Michigan and a member of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee during the preparation of this document. S.R. was an Assistant Professor in the Department of Pathology and Laboratory Medicine at the University of North Carolina at Chapel Hill during the preparation of this document.
Publisher Copyright:
© 2021 American College of Medical Genetics and Genomics
PY - 2022/4
Y1 - 2022/4
N2 - 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.
AB - 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.
KW - Clinical testing
KW - Pharmacogene
KW - Pharmacogenetic
KW - Pharmacogenomic
KW - Pharmacogenomic nomenclature
UR - http://www.scopus.com/inward/record.url?scp=85128487711&partnerID=8YFLogxK
U2 - 10.1016/j.gim.2021.12.009
DO - 10.1016/j.gim.2021.12.009
M3 - Article
C2 - 35177334
AN - SCOPUS:85128487711
SN - 1098-3600
VL - 24
SP - 759
EP - 768
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 4
ER -