Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
Department of Quantitative Health Sciences, Rochester, MN, USA.
Curr Atheroscler Rep. 2023 Jun;25(6):323-330. doi: 10.1007/s11883-023-01104-3. Epub 2023 May 24.
There is considerable interest in using polygenic risk scores (PRSs) for assessing risk of atherosclerotic cardiovascular disease (ASCVD). A barrier to the clinical use of PRSs is heterogeneity in how PRS studies are reported. In this review, we summarize approaches to establish a uniform reporting framework for PRSs for coronary heart disease (CHD), the most common form of ASCVD.
Reporting standards for PRSs need to be contextualized for disease specific applications. In addition to metrics of predictive performance, reporting standards for PRSs for CHD should include how cases/control were ascertained, degree of adjustment for conventional CHD risk factors, portability to diverse genetic ancestry groups and admixed individuals, and quality control measures for clinical deployment. Such a framework will enable PRSs to be optimized and benchmarked for clinical use.
人们对使用多基因风险评分 (PRS) 评估动脉粥样硬化性心血管疾病 (ASCVD) 的风险非常感兴趣。PRS 研究报告方式的异质性是 PRS 临床应用的一个障碍。在这篇综述中，我们总结了为冠心病 (CHD) 建立 PRS 统一报告框架的方法，CHD 是 ASCVD 最常见的形式。
PRS 报告标准需要针对特定疾病的应用进行背景化。除了预测性能的指标外，CHD 的 PRS 报告标准还应包括病例/对照的确定方式、对传统 CHD 风险因素的调整程度、对不同遗传血统群体和混合个体的可移植性，以及临床应用的质量控制措施。这样的框架将使 PRS 能够针对临床应用进行优化和基准测试。
