Oscar Suzuki1,2, Olivia M Dong1,2, Rachel M Howard1,2, Tim Wiltshire1,2,3. 1. Division of Pharmacotherapy & Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. 2. Center for Pharmacogenomics & Individualized Therapy, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. 3. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Abstract
Aim: This study assesses the technical performance and cost of a targeted next-generation sequencing (NGS) multigene pharmacogenetic (PGx) test. Materials & methods: A genetic test was developed for 21 PGx genes using molecular inversion probes to generate library fragments for NGS. Performance of this test was assessed using 53 unique reference control cell lines from the Genetic Testing Reference Materials Coordination Program (GeT-RM). Results: 93.7% of variants were successfully called and the repeatability rate was 99.9%. Reference calls were available for 78.4% of diplotype calls resulting from PGx testing, and concordance for the test was 85.7%. Cost per sample was $32-$56. Conclusion: A targeted NGS assay using molecular inversion probe technology is able to characterize the pharmacogenome efficiently.
Aim: This study assesses the technical performance and cost of a targeted next-generation sequencing (NGS) multigene pharmacogenetic (PGx) test. Materials & methods: A genetic test was developed for 21 PGx genes using molecular inversion probes to generate library fragments for NGS. Performance of this test was assessed using 53 unique reference control cell lines from the Genetic Testing Reference Materials Coordination Program (GeT-RM). Results: 93.7% of variants were successfully called and the repeatability rate was 99.9%. Reference calls were available for 78.4% of diplotype calls resulting from PGx testing, and concordance for the test was 85.7%. Cost per sample was $32-$56. Conclusion: A targeted NGS assay using molecular inversion probe technology is able to characterize the pharmacogenome efficiently.
Entities:
Keywords:
molecular inversion probes; next-generation sequencing; pharmacogenetic; pharmacogenome; precision medicine
Authors: Jing Zhu; Tejendra Patel; Jordan A Miller; Chad D Torrice; Mehak Aggarwal; Margaret R Sketch; Maurice D Alexander; Paul M Armistead; James M Coghill; Tatjana Grgic; Katarzyna J Jamieson; Jonathan R Ptachcinski; Marcie L Riches; Jonathan S Serody; John L Schmitz; J Ryan Shaw; Thomas C Shea; Oscar Suzuki; Benjamin G Vincent; William A Wood; Kamakshi V Rao; Tim Wiltshire; Eric T Weimer; Daniel J Crona Journal: Int J Mol Sci Date: 2020-01-29 Impact factor: 5.923
Authors: Jing Zhu; Olivia Campagne; Chad D Torrice; Gabrielle Flynn; Jordan A Miller; Tejendra Patel; Oscar Suzuki; Jonathan R Ptachcinski; Paul M Armistead; Tim Wiltshire; Donald E Mager; Daniel L Weiner; Daniel J Crona Journal: Clin Transl Sci Date: 2021-01-27 Impact factor: 4.689