走向药物基因组学综合资源 (PGx):基因组医学社区的调查结果
Clarissa J Klein1, Li Gong1, Kelly E Caudle2
1Department of Biomedical Data Science, Stanford University, Stanford, CA.
概括
由于术语不一致,药物基因组学 (PGx) 的整合面临着障碍. 需要标准化框架和集中资源来有效地临床实施PGx.
科学领域:
- 基因组医学是基因组医学.
- 药物基因组学 药物基因组学
- 精确的健康 精确的健康
背景情况:
- 药物基因组学 (PGx) 对于提高药物疗效和最大限度地减少在精密医疗保健中的不良事件至关重要.
- 在PGx和基因组医学社区之间存在错误的术语和标准,这阻碍了PGx的广泛实施.
- 对社区障碍和需求的更新理解对于标准化PGx术语和解释框架至关重要.
研究的目的:
- 评估社区对药物基因组学 (PGx) 实施的障碍,需求和观点.
- 评估目前PGx临床有效性和可操作性的框架.
- 确定基因组医学中对标准化术语和解释框架的需求.
主要方法:
- 针对PGx和基因组医学专业人员进行了两项调查 (n=508).
- 调查评估了关于PGx临床有效性和可操作性框架以及实施障碍的观点.
- 使用定性内容分析来解释自由文本调查答案.
主要成果:
- 在PGx和非PGx语境中的术语中发现了显著的混和混乱.
- 揭示了广泛的社区支持利用现有的PGx指南和框架.
- 指出需要标准化方法和集中资源来实现PGx.
结论:
- 对将PGx纳入临床实践的重要性达成强烈共识.
- 突出支持开发基因药物反应框架,与现有的基因疾病框架保持一致.
- 强调需要对PGx进行标准化的临床有效性和可操作性框架.
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