Laboratory of Pharmaceutical Biotechnology, Ghent University, Ottergemsesteenweg 460, Ghent 9000, Belgium.
Department for Reproductive Medicine, Ghent-Fertility & Stem Cell Team (G-FaST), Ghent University Hospital, Corneel Heymanslaan 10, Ghent 9000, Belgium.
Pharmacogenomics. 2020 Oct;21(15):1073-1084. doi: 10.2217/pgs-2020-0035. Epub 2020 Oct 6.
This study provides clinicians and researchers with an informed choice between current commercially available targeted sequencing panels and exome sequencing panels in the context of pan-cancer pharmacogenetics. Nine contemporary commercially available targeted pan-cancer panels and the xGen Exome Research Panel v2 were investigated to determine to what extent they cover the pharmacogenetic variant-drug interactions in five available cancer knowledgebases, and the driver mutations and fusion genes in the Cancer Genome Atlas. xGen Exome Research Panel v2 and TrueSight Oncology 500 target 71.0 and 68.9% of the pharmacogenetic interactions in the available knowledgebases; and 93.7 and 86.0% of the driver mutations in the Cancer Genome Atlas, respectively. All other studied panels target lower percentages. Exome sequencing outperforms pan-cancer targeted sequencing panels in terms of covered cancer pharmacogenetic variant-drug interactions and pharmacogenetic cancer variants.
本研究为临床医生和研究人员在泛癌种药物遗传学背景下，提供了在当前市售的靶向测序panel 和外显子组测序panel 之间的明智选择。本研究调查了九种当代市售的泛癌种靶向panel 和 xGen Exome Research Panel v2，以确定它们在五个已有的癌症知识库中涵盖了多大程度的药物遗传学变异-药物相互作用，以及在癌症基因组图谱（Cancer Genome Atlas）中涵盖了多大程度的驱动突变和融合基因。xGen Exome Research Panel v2 和 TrueSight Oncology 500 分别靶向了 71.0%和 68.9%的知识库中的药物遗传学相互作用；以及癌症基因组图谱中的 93.7%和 86.0%的驱动突变。所有其他研究的panel 则靶向了更低比例的变异。在涵盖癌症药物遗传学变异-药物相互作用和药物遗传学癌症变异方面，外显子组测序优于泛癌种靶向测序panel。
