Kothary Anar Sanjaykumar, Mahendra Caroline, Tan Mingchen, Min Tan Eunice Jia, Hong Yi Jacelyn Phua, Hui Jocelyn Tan Xin, Haruman Jessline Stephanie, Tan Zhihao, Lee Chun Kiat, Lezhava Alexander, Yan Benedict, Irwanto Astrid
Nalagenetics Pte Ltd, Singapore, 169204, Singapore.
Center for Genome Diagnostics, Genome Institute of Singapore, Agency for Science, Technology & Research (A*STAR), 138672, Singapore.
Pharmacogenomics. 2021 Nov;22(16):1041-1056. doi: 10.2217/pgs-2021-0071. Epub 2021 Oct 25.
The clinical utility of pharmacogenomics (PGx) has been gaining traction alongside growing evidence that adverse drug reactions (ADRs) have significant genetic associations. Nala PGx Core is a multi-gene qPCR-based panel of 20 allele variants, comprising 18 SNPs and two copy number markers across four pharmacogenes - , , and . In this study, we validated the performance of Nala PGx Core against benchmark methods, on the Singaporean and Indonesian populations. Nala PGx Core demonstrated robust and accurate genotyping when compared with other established benchmarks. Furthermore, the panel successfully characterized alleles of clinical relevance, such as and , across major ethnic groups present of Singapore and Indonesia, suggesting its potential for adoption in clinical workflows regionally.
随着越来越多的证据表明药物不良反应（ADR）具有显著的遗传关联，药物基因组学（PGx）的临床应用越来越受到关注。Nala PGx Core是一个基于多基因qPCR的检测板，包含20个等位基因变体，包括四个药物基因（分别为CYP2C19、CYP2D6、CYP3A4和ABCB1）中的18个单核苷酸多态性（SNP）和两个拷贝数标记。在本研究中，我们在新加坡和印度尼西亚人群中，将Nala PGx Core的性能与基准方法进行了验证。与其他既定基准相比，Nala PGx Core表现出稳健且准确的基因分型。此外，该检测板成功鉴定了新加坡和印度尼西亚主要种族中具有临床相关性的等位基因，如CYP2C192和CYP2D610，表明其在区域临床工作流程中具有应用潜力。
