药物基因组学:DPYD和预防毒性
J Keen1, J H McDermott2, E Aguilar-Martinez3
1NHS North West Genomic Medicine Service Alliance, UK.
概括
在英国,在皮里米丁化疗前进行预防性DPYD基因型鉴定是关键的药物遗传计划. 需要进行进一步的研究,以确保在不同人群中进行公平的DPYD测试,并优化癌症治疗.
科学领域:
- 药物基因组学 药物基因组学
- 在瘤学瘤学.
- 临床化学 临床化学
背景情况:
- DPYD基因型鉴定对于识别患有皮里米丁化疗严重毒性风险的患者至关重要.
- 广泛的DPYD基因造型程序正在出现,但全球可用性和种族适用性仍然异质.
- 目前英国的强制性测试主要集中在四种变体上,需要进行更广泛的调查.
研究的目的:
- 评估DPYD常规基因定型在英国人口中的影响.
- 针对当前DPYD测试策略在不同种族群体的适用性.
- 探索识别罕见DPYD变异和其他相关基因的方法,以减少医疗保健差异.
主要方法:
- 对DPYD基因型和胺毒性现有证据的审查.
- 对目前英国国家药物遗传检测计划的分析.
- 讨论识别罕见变异的方法和未来的药物基因组技术.
主要成果:
- DPYD变异影响3-6%的人口,导致DPD酶缺乏,并增加严重甲胺毒性的风险.
- 有证据表明DPYD导向剂量可以降低毒性,而不会对结果产生负面影响.
- 目前英国的战略侧重于四种常见的DPYD变体,对不同族裔人口的数据有限.
结论:
- 常规DPYD基因定型对于安全的胺化学疗法至关重要.
- 需要进一步的研究,以确保在所有族群中公平的DPYD测试.
- 药物基因组学与数字技术相结合,有望优化癌症治疗和支持性护理.
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