Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology

Marelize Swart, Wesley M. Stansberry, Victoria M. Pratt, Elizabeth B. Medeiros, Patrick J. Kiel, Fei Shen, Bryan P. Schneider, Todd C. Skaar

Research output: Contribution to journalArticle

Abstract

The Clinical Laboratory Improvement Amendments of 1988 require that pharmacogenetic genotyping methods need to be established according to technical standards and laboratory practice guidelines before testing can be offered to patients. Testing methods for variants in ABCB1, CBR3, COMT, CYP3A7, C8ORF34, FCGR2A, FCGR3A, HAS3, NT5C2, NUDT15, SBF2, SEMA3C, SLC16A5, SLC28A3, SOD2, TLR4, and TPMT were validated in a Clinical Laboratory Improvement Amendments–accredited laboratory. Because no known reference materials were available, existing DNA samples were used for the analytical validation studies. Pharmacogenetic testing methods developed here were shown to be accurate and 100% analytically sensitive and specific. Other Clinical Laboratory Improvement Amendments–accredited laboratories interested in offering pharmacogenetic testing for these genetic variants, related to genotype-guided therapy for oncology, could use these publicly available samples as reference materials when developing and validating new genetic tests or refining current assays.

Original languageEnglish (US)
Pages (from-to)491-502
Number of pages12
JournalJournal of Molecular Diagnostics
Volume21
Issue number3
DOIs
StatePublished - May 2019

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ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

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