Characterizing the pharmacogenome using molecular inversion probes for targeted next-generation sequencing.

Suzuki O1,2, Dong OM1,2, Howard RM1,2, Wiltshire T1,2,3.

Author information

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.