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.

Details

• Alternative Title:
  The Journal of Molecular Diagnostics : JMD, 2025, v. 27, no. 6: 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.
• Journal Article:
  The Journal of Molecular Diagnostics : JMD
• Personal Author:
  Scheinfeldt, Laura ; Kusic, Dara ; Gaedigk, Andrea ; Turner, Amy J. ; Moyer, Ann M. ; Pratt, Victoria M. ; Kalman, Lisa V.
• Description:
  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.
• Content Notes:
  Author manuscript
• Subjects:
  • Humans
  • HLA Antigens
  • Pharmacogenomic Testing
  • Alleles
  • Reference Standards
  • Pharmacogenetics
  • Genetic Testing
  • Histocompatibility Testing
  • DNA
• Source:
  The Journal of Molecular Diagnostics : JMD, 2025, v. 27, no. 6
• DOI:
  https://doi.org/10.1016/j.jmoldx.2025.02.008
• ISSN:
  1525-1578 ; 1943-7811
• Pubmed ID:
  40122159
• Pubmed Central ID:
  PMC12103986
• Document Type:
  Text
• Funding:
  CC999999/ImCDC/Intramural CDC HHSUnited States/ ; U24 HG008736/HG/NHGRI NIH HHSUnited States/
• Genre:
  Journal Article
• Pages in Document:
  457-464 (15 pdf pages)
• Volume:
  27
• Issue:
  6
• Download URL:
  https://stacks.cdc.gov/view/cdc/261579/cdc_261579_DS1.pdf
• File Type:
  [PDF - 824.38 KB]
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha-512:89900b6bd2b61f8f063ad2807e442712eaf8dd78abb38088234426a12b4bdf66763cee3145b8c9efb42a810fb711a8fbbfa5cf65bd19d67a538806102bc9a449