New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing: The Genetic Testing Reference Material (GeT-RM) Program PGx Search Tool and GeT-RM Consolidated PGx and HLA Table.
Document Type
Article
Publication Date
6-2025
Identifier
DOI: 10.1016/j.jmoldx.2025.02.008; PMCID: PMC12103986
Abstract
Regulations, accreditation standards, and professional guidance require laboratories to use reference materials for assay development, validation, quality control, and proficiency testing of clinical genetic tests. There are, however, few publicly available reference materials for most genetic tests. To address this issue, the CDC's Genetic Testing Reference Material Program (GeT-RM), the Coriell Institute for Medical Research, and the genetic testing community have conducted 19 studies, including nine for pharmacogenetic (PGx) and human leukocyte antigen (HLA) testing, to generate characterized, renewable, and publicly available DNA samples for use as reference materials. Because new PGx alleles are frequently identified, and allele designations change over time, many samples were reanalyzed for the same gene(s) in subsequent GeT-RM studies. These studies used more comprehensive and sensitive methods and panels that examined additional single-nucleotide variants and/or star alleles to expand and update the consensus genotypes. Up-to-date information is available in two newly established resources: the GeT-RM Consolidated PGx and HLA Table and the GeT-RM PGx Search Tool. These resources contain all available PGx and HLA genotypes for 363 publicly available samples characterized during nine GeT-RM PGx or HLA studies for 34 genes/loci in a consolidated and searchable format.
Journal Title
The Journal of molecular diagnostics : JMD
Volume
27
Issue
6
First Page
457
Last Page
464
MeSH Keywords
Humans; HLA Antigens; Pharmacogenomic Testing; Alleles; Reference Standards; Pharmacogenetics; Genetic Testing; Histocompatibility Testing; DNA
PubMed ID
40122159
Keywords
HLA Antigens; Pharmacogenomic Testing; Alleles; Reference Standards; Pharmacogenetics; Genetic Testing; Histocompatibility Testing; DNA
Recommended Citation
Scheinfeldt L, Kusic D, Gaedigk A, et al. New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing: The Genetic Testing Reference Material (GeT-RM) Program PGx Search Tool and GeT-RM Consolidated PGx and HLA Table. J Mol Diagn. 2025;27(6):457-464. doi:10.1016/j.jmoldx.2025.02.008
COinS
Comments
Grants and funding