PRIMED联盟:减少多基因风险评估中的差异
Iftikhar J Kullo1, Matthew P Conomos2, Sarah C Nelson2
1Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
American journal of human genetics
|November 19, 2024
概括
多基因风险评分 (PRSs) 可以改善疾病预测,但在不同人群中表现不佳. PRIMED联盟正在开发公平的方法,以提高全球PRS绩效.
科学领域:
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
- 生物信息学是一种生物信息学.
背景情况:
- 多基因风险评分 (PRS) 提供了疾病风险预测和预防的潜力.
- 目前的PRS由于历史基因组数据偏差而表现出祖先之间的性能差异.
- 这可能会加剧临床应用中现有的健康不平等.
研究的目的:
- 开发和实施改善PRS在全球不同人群中的表现的方法.
- 解决由于PRS在代表性不足的群体中表现不佳而导致的健康差异.
- 在多基因风险评估的开发和应用中促进公平.
主要方法:
- 在AnVIL云平台上汇集和协调各种表型和基因型数据集.
- 利用人口和统计遗传学的方法进行个人和总结级别的分析.
- 为队列研究和电子健康记录开发一个共同的数据模型.
主要成果:
- 在AnVIL.上安全共享数据的既定方法.
- 为全球队列和EHR数据创建了一个协调的数据模型.
- 适应国际队列的人口描述指南.
结论:
- PRIMED联盟正在通过数据协调和先进的分析方法推动公平的PRS发展.
- 为了全面的风险预测,正在研究健康和PRS的社会决定因素的联合建模.
- 工作重点是改善PRS在不同人群中治疗心脏代谢疾病和癌症的效用.
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