在一个精准医学诊所评估的自闭症谱系障碍患者的药物遗传检测
Rachel Goodson1, Jennifer Wagner2,3, Tracy Sandritter2
1Division of Developmental and Behavioral Health, Department of Pediatrics, Atrium Health Navicent, Macon, GA.
Journal of developmental and behavioral pediatrics : JDBP
|October 9, 2023
概括
青少年患有自闭症谱系障碍 (ASD) 的药物遗传学测试显示了药物反应的多样性. 某些健康因素,如同时出现的诊断,可能与特定的遗传代谢器状态相关,这表明临床效用.
科学领域:
- 药物基因组学 药物基因组学
- 神经发育障碍 神经发育障碍
- 精准医学是一门精准的医学.
背景情况:
- 自闭症谱系障碍 (ASD) 通常涉及药物疗效和药物不良反应的挑战.
- 准确医学方法,包括药物遗传学测试,正在越来越多地探索,以优化ASD患者的治疗.
研究的目的:
- 为了调查青少年患有自闭症的药物遗传测试结果,转介给精准医学诊所.
- 探索患者特征与药物基因组测试结果之间的关联,特别是对CYP2D6和CYP2C19.
主要方法:
- 对202名患有自闭症患者的回顾性审查,这些患者被转介到儿科精准医学诊所.
- 对CYP2D6和CYP2C19的药物遗传检测结果的分析,以及患者人口统计数据,同时出现的诊断和药物史.
- 后勤回归模型用于检查代谢器状态的预测因素.
主要成果:
- 66%的患者因药物反应不佳而被转诊.
- 9%的患者是CYP2D6的低代谢者,10%是CYP2C19的快速/超快代谢者.
- 同时出现的诊断预测了非精神病的不良药物反应 (ADR) 和CYP2D6低代谢状态;非精神病的ADR预测了CYP2C19快速/超速代谢状态.
结论:
- 在这一群患有自闭症的青少年中,药物遗传学测试显示了药物反应和可操作结果的显著变化.
- 这些发现表明,在ASD管理中,药物遗传测试具有潜在的临床实用性.
- 确定了与特定的CYP450代谢器状态相关的潜在临床概况.
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