选择,优化和验证10个慢性疾病多基因风险评分,以便在不同人群中临床实施
Niall J Lennon1, Leah C Kottyan2, Christopher Kachulis1
1Broad Institute of MIT and Harvard.
medRxiv : the preprint server for health sciences
|June 19, 2023
概括
多基因风险评分 (PRS) 显示出临床使用的前景,但在不同的人群中性能不同. 该eMERGE网络正在实施PRS10个条件在25000个不同的个人,以确保公平的健康.
科学领域:
- 基因组学就是基因组学.
- 临床医学 临床医学
- 健康差异 在健康上的差异
背景情况:
- 多基因风险评分 (PRS) 显示预测能力越来越强,这表明临床效用.
- 在不同的人群中PRS表现的差异可能会加剧健康不平等.
- 国家人类基因组研究所 (NHGRI) 资助的电子医疗记录和基因组学 (eMERGE) 网络是一个关键的倡议.
研究的目的:
- 评估PRS在不同人群中的23种疾病中的性能,医疗可行性和临床实用性.
- 根据非洲和西班牙裔人口的标准化指标和证据,选择10个条件进行临床实施.
- 开发一个强大的管道,用于PRS的临床实施.
主要方法:
- 通过使用标准化指标,对23个条件进行PRS性能,可操作性和实用性的评估.
- 具有强有力的证据的优先条件在各种人群中,包括非洲人和西班牙裔个人.
- 开发了一个临床实施管道,包括遗传祖先校准,监管合规框架和标准化的PRS报告.
主要成果:
- 选择了10种条件来实施PRS:心房动,乳腺癌,慢性病,冠状动脉心脏病,高胆固醇血症,前列腺癌,喘,1型糖尿病,肥胖和2型糖尿病.
- 成功开发了一个用于临床PRS实施的综合管道.
- 基因祖先被用来校准PRS,确保跨不同群体的准确性.
结论:
- eMERGE网络的经验为在不同临床环境中实施PRS提供了基础框架.
- 解决PRS绩效差异对于公平的医疗保健至关重要.
- 开发的基础设施支持PRS的可扩展和合规的临床集成.
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