在电子健康记录链接生物库中使用诊断代码来构建初级开放角度眼多原风险评分
Jessica H Tran1, Joyce Kang2, Elaine Han1
1From the Department of Ophthalmology (J.H.T., E.H., R.L., L.R.P.), Icahn School of Medicine at Mount Sinai, New York, New York, USA.
American journal of ophthalmology
|June 21, 2024
概括
主要开角青光眼 (POAG) 的多基因风险评分 (PRS) 是使用国际疾病分类 (ICD) 代码或手动记录审查的方式进行的. 这表明,对于一些POAG PRS应用程序,ICD代码可能足够.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 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) 越来越多地用于预测疾病风险和预后.
- 主要开角青光眼 (POAG) 是全球不可逆转失明的主要原因.
- 准确的案例确定对于开发和验证PRS至关重要.
研究的目的:
- 为了比较POAG PRS的性能,当病例被国际疾病分类 (ICD) 代码定义时,与手动医疗记录审查相比.
- 评估ICD代码在大型生物银行队列中用于POAG病例识别的实用性.
主要方法:
- 一项回顾性队列研究使用了来自西奈山BioMe和Mass General Brigham (MGB) 生物库的数据进行.
- POAG病例最初是使用ICD代码识别的,随后通过光学连贯性断层扫描和视野证实.
- 一个全基因组的POAG PRS是使用 lassosum方法和来自英国生物库的基因型数据来计算的.
主要成果:
- 对POAG的ICD代码的积极预测值在53%到55%之间,负预测值在96%到97%之间.
- 对于这两种方法的敏感性都很高 (97%),但与手动审查相比,ICD代码的特异性较低 (44%-53%).
- 通过PRS预测POAG的曲线下的面积 (AUC) 值显示,在各种祖先之间,ICD代码和手册审查定义之间没有统计学上显著的差异.
结论:
- 一个POAG PRS证明了可比的预测性能,无论国际疾病分类 (ICD) 代码或手动医疗记录审查是否用于电子健康记录链接生物库中的病例定义.
- 对于所有PRS研究来说,手动评估眼状况可能不是必不可少的,这可能会简化研究过程.
- 在仅依赖ICD代码诊断青光眼时,建议谨慎,因为它们在准确识别确诊的青光眼病例方面的特异性有限.
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