Potential of whole-genome sequencing-based pharmacogenetic profiling
Potential of whole-genome sequencing-based pharmacogenetic profiling
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DOI：
10.2217/pgs-2020-0155
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发表时间：
2021-01-29
期刊：
影响因子：
2.1
通讯作者：
Matyas, Gabor
中科院分区：
文献类型：
--
作者：
Caspar, Sylvan Manuel;Schneider, Timo;Matyas, Gabor
药物遗传学代表了精准医学的主要驱动力，有望实现个体化药物选择和给药。传统上，药物遗传学特征分析是使用靶向基因分型进行的，其重点是常见/已知变体。最近，全基因组测序（WGS）正在成为一种更全面的短读下一代测序方法，能够在单一检测中进行基因诊断和药物遗传学分析，包括罕见/新型变体。以CYP 2D 6为例，我们展示了基于WGS的药物遗传学分析的潜力，并强调了短读段下一代测序的局限性。在不久的将来，我们设想转向长读测序作为基因诊断和药物遗传学分析的主要方法，提供前所未有的数据质量并改善患者护理。
Pharmacogenetics represents a major driver of precision medicine, promising individualized drug selection and dosing. Traditionally, pharmacogenetic profiling has been performed using targeted genotyping that focuses on common/known variants. Recently, whole-genome sequencing (WGS) is emerging as a more comprehensive short-read next-generation sequencing approach, enabling both gene diagnostics and pharmacogenetic profiling, including rare/novel variants, in a single assay. Using the example of the pharmacogene CYP2D6, we demonstrate the potential of WGS-based pharmacogenetic profiling as well as emphasize the limitations of short-read next-generation sequencing. In the near future, we envision a shift toward long-read sequencing as the predominant method for gene diagnostics and pharmacogenetic profiling, providing unprecedented data quality and improving patient care.