在我们所有参与者中,药物基因组变异和药物暴露的频率
medRxiv : the preprint server for health sciences
|July 1, 2024
概括
药物基因组学变体在不同的人群中很常见,使得个性化医学成为可能. 这项研究强调了包容性研究的必要性,以确保为所有患者提供公平的药物遗传学处方指南.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 临床药理学 临床药理学
- 精准医学是一门精准的医学.
背景情况:
- 药物基因组学 (PGx) 提供个性化处方,但研究缺乏多样性.
- 有限的多样性阻碍了准确医学的公平临床翻译.
研究的目的:
- 评估PGx变异频率,预测的表型和多样化的队列中的药物暴露.
- 评估PGx在大量多样化人群中的临床影响.
- 在代表不足的群体中识别新的PGx等位基因和表型.
主要方法:
- 全基因组测序和电子健康记录 (EHR) 数据来自我们所有人研究计划的近10万名不同参与者.
- 对药物基因组变异频率和预测表型的分析.
- 预测表型与药物暴露的相关性.
主要成果:
- 100%的参与者携带至少一种药物基因组学变异.
- 99.13%的人有预测的表型,有处方建议.
- 超过20%的人有可操作的表型和先前接触相关药物的情况.
- 数以百计的新型或偏离的PGx等位基因和表型被确定,包括混合的美国和非洲祖先群体.
结论:
- 药物基因组学变体几乎是普遍的,支持精准医学的广泛应用.
- 观察到高临床影响,强调需要多样化的数据来指导处方.
- 调查结果强调了包容性研究对于公平的药物基因组实施的重要性.
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