建立一个精细的人口健康监测系统
Gillian M Belbin1, Sinead Cullina2, Stephane Wenric2
1Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Cell
|April 16, 2021
概括
这项研究将电子健康记录与基因组数据联系起来, 研究结果揭示了健康结果的差异和遗传变异的差异,改善了人口健康监测.
科学领域:
- 基因组学
- 流行病学
- 人口健康
背景情况:
- 了解健康差异对于公平的精确健康至关重要.
- 在流行病学中现有的种族和民族标签可能不完全代表疾病负担或对子群体的环境影响.
研究的目的:
- 提出一个整合电子健康记录和基因组数据的框架.
- 探索影响疾病负担的人口关系.
- 能够对人口健康进行细致的监测.
主要方法:
- 我们使用了来自纽约多样化生物库的数据.
- 确定了17个共同的近期遗传祖先.
- 分析了与特定祖先群体相关的健康结果和遗传变异.
主要成果:
- 观察到1,177个与特定祖先群体统计相关的健康结果.
- 在孟德尔病的遗传变异分离方面发现了显著的差异.
- 证明精细的人口结构会影响群体内的复杂疾病风险预测.
结论:
- 将基因组数据与电子健康记录联系起来对于人口健康研究是有价值的.
- 拟议的框架支持对健康差异的细微监测.
- 这种方法提高了对疾病负担的人口影响的理解.
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