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. 2019 May;21(3):491-502.
doi: 10.1016/j.jmoldx.2019.01.009. Epub 2019 Feb 20.

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

Marelize Swart  1 , Wesley M Stansberry  2 , Victoria M Pratt  3 , Elizabeth B Medeiros  2 , Patrick J Kiel  1 , Fei Shen  4 , Bryan P Schneider  4 , Todd C Skaar  1
Affiliations

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

Marelize Swart et al. J Mol Diagn. 2019 May.

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.

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