一个框架来量化药物基因组治疗一致性和药物反应结果的差异
Ilia Rattsev1,2, James M Stevenson3,4, Casey Overby Taylor1,2,3,5
1Institute for Computational Medicine, Whiting School of Engineering, Johns Hopkins University, Baltimore, Maryland, USA.
medRxiv : the preprint server for health sciences
|November 19, 2025
概括
临床药物基因组学 (PGx) 准则显示,代表性不足的群体存在差异. 基因组指导处方的真实世界数据 (ReGGRx) 框架有助于评估和解决药物处方中的这些不平等问题.
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
- 临床药理学 临床药理学
背景情况:
- 临床药物基因组学 (PGx) 准则可能不适用于边缘化群体.
- 在PGx指南一致性和益处的差异可能会影响患者的结果.
研究的目的:
- 引入和验证基因组指导处方 (ReGGRx) 的五步实体数据框架.
- 评估PGx指南对抗血小板和抗抑郁药物选择中CYP2C19测试的概括性,使用All of Us研究计划数据.
- 确定不同患者群体在避免药物失效和受益于PGx一致治疗方面的差异.
主要方法:
- 使用了我们所有人的研究计划 (AoU) 数据集.
- 应用了ReGGRx框架来分析对CYP2C19测试的PGx指南的一致性,并从中获益.
- 在生物医学研究中代表性不足的群体 (UBR) 和具有不确定的CYP2C19表型的群体与非边缘化群体之间的结果比较.
主要成果:
- 在抗抑郁药队列中发现了差异,UBRs避免药物失败的几率较低.
- 与已知的表型相比,在未确定CYP2C19表型的个体中,避免药物失败的概率较低.
- 负的机会平等差异值表明,UBR组即使在PGx一致治疗中,也不太可能避免药物失败.
结论:
- ReGGRx框架对评估PGx指导方针通用性的表现有希望.
- 这些发现凸显了为改进PGx应用而需要表征罕见或祖先特异性风险等位基因.
- 该研究提供了证据,以告知药物政策决策,以减少健康差异.
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