呼吁在药物遗传测试中增加包容性和全球代表性
April Kennedy1,2, Gabriel Ma3, Roozbeh Manshaei4
1Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
NPJ genomic medicine
|February 22, 2024
概括
全基因组测序 (WGS) 比商业面板提供了对药物遗传变异的更全面的了解. 在1%的参与者中,WGS发现了罕见的变异,可能可以防止药物剂量错误.
科学领域:
- 药物基因组学 药物基因组学
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
背景情况:
- 商业药物遗传学测试面板不完全捕捉遗传变异.
- 药物代谢和药物不良反应受遗传因素的影响.
- 了解遗传变异对于个性化医学至关重要.
研究的目的:
- 将全基因组测序 (WGS) 与商业面板进行比较,以检测药物遗传变异.
- 评估WGS识别变异对代谢器状态解释的影响.
- 为了评估预防基因基因错误的可能性,在有小儿心脏病家族病史的人群中进行剂量错误.
主要方法:
- 全基因组测序 (WGS) 在308个个体上进行.
- 在六种药物基因中检测到的遗传变异与商业测试小组进行了比较.
- 分析的重点是罕见的变异及其对药物代谢解释的影响.
主要成果:
- 在WGS中发现了商业小组未检测到的遗传变异.
- 在1%的队列中,WGS揭示了罕见的变异,改变了对药物代谢剂状态的解释.
- 这些发现凸显了当前商业测试中的潜在不准确性.
结论:
- 与商业面板相比,全基因组测序提供了更彻底的药物遗传变异评估.
- WGS可以识别影响药物剂量和安全性的关键罕见变异.
- 将WGS整合到临床实践中可能会提高药物遗传学测试的准确性,并预防不良药物事件.
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