Division of Pharmacotherapy & Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Center for Pharmacogenomics & Individualized Therapy, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Pharmacogenomics. 2019 Sep;20(14):1005-1020. doi: 10.2217/pgs-2019-0057.
This study assesses the technical performance and cost of a targeted next-generation sequencing (NGS) multigene pharmacogenetic (PGx) test. 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). 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. A targeted NGS assay using molecular inversion probe technology is able to characterize the pharmacogenome efficiently.
本研究评估了靶向下一代测序（NGS）多基因药物遗传学（PGx）测试的技术性能和成本。 使用分子反转探针为 21 个 PGx 基因开发了一个基因测试，以生成用于 NGS 的文库片段。 使用遗传测试参考材料协调计划（GeT-RM）中的 53 个独特的参考对照细胞系评估了该测试的性能。 成功调用了 93.7％的变体，并且重复性率为 99.9％。 对于来自 PGx 测试的 78.4％的二倍体型调用，可获得参考调用，并且测试的一致性为 85.7％。 每个样本的成本为 32-56 美元。 使用分子反转探针技术的靶向 NGS 测定能够有效地描述药物基因组。
