使用多基因风险修饰来改善乳腺癌预防:PRiMo多中心随机对照试验的研究协议
Simone McInerny1,2, Lyon Mascarenhas1,2, Tatiane Yanes3
1Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
BMJ open
|August 6, 2024
概括
本试验研究了将多基因风险评分 (PRS) 与乳腺癌和卵巢癌的传统风险因素相结合. 它旨在改善家庭癌症诊所女性的个性化风险评估和管理.
科学领域:
- 基因组学和癌症遗传学
- 临床试验设计 临床试验设计
- 个性化医疗是个性化的医疗.
背景情况:
- 乳腺癌和卵巢癌存在已确定的风险因素,目前提供致病变体的遗传测试.
- 多基因风险评分 (PRS) 提供了一种新的方法,通过评估常见的基因组变异来个性化癌症风险评估.
- 结合PRS和传统因素的综合风险评估的临床实践经验有限.
研究的目的:
- 评估综合风险评估模型的有效性,包括多基因风险评分 (PRS) 与标准护理相比,用于乳腺和卵巢癌风险.
- 评估综合风险评估对患者风险管理意图,遵守和报告结果的影响.
- 探索在临床实践中实施个性化风险评估对卫生服务的影响.
主要方法:
- 一个前性的多中心随机对照试验,将综合风险评估 (包括PRS) 与标准护理进行比较.
- 招募接受遗传性乳腺癌和卵巢癌倾向基因预测性基因测试的妇女.
- 利用基于阵列的乳腺癌和卵巢癌PRS的基因定型,以及数据收集的在线门户网站和临床医生教育计划.
主要成果:
- 长期跟踪将比较综合风险评估和标准护理组之间的评估风险和管理建议的差异.
- 将对患者的风险管理意图,坚持和患者报告的结果进行评估.
- 将对个性化风险评估对卫生服务的影响进行分析.
结论:
- 这项研究将提供关键的见解,了解将多基因风险评分纳入乳腺癌和卵巢癌风险评估的临床实用性.
- 预计这些发现将有助于为具有遗传风险的妇女制定更个性化和更有效的风险管理策略.
- 这项研究解决了临床实践与综合风险评估模型的经验差距.
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