基因数据会显著改变日常心血管风险预测吗?

W. Young, J. Ramírez, S. Duijvenboden, A. Tinker, P. Lambiase, P. Munroe, M. Orini
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引用次数: 0

摘要

精准医学被认为是改善风险预测的一个机会,这主要是受基因数据日益增加的推动。与孟德尔单基因综合征相关的罕见突变的基因检测可在专门诊所进行。然而,对于复杂疾病,由于其个体效应较小,有必要将常见和低频变异聚集到“多基因风险评分”(PRS)中。冠状动脉疾病(CAD)、高血压和心房颤动的PRSs在人群水平上取得了一定的成功。然而,对于心血管疾病的遗传效应是否足以产生有意义的临床影响,人们仍然持怀疑态度。本文以CAD为例,探讨了利用基因组数据进行风险预测的最新研究成果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Will Genetic Data Significantly Change Cardiovascular Risk Prediction in Daily Practice?
Precision medicine has been heralded as an opportunity to improve risk prediction, driven significantly by an increasing availability of genetic data. Genetic testing for rare mutations linked with Mendelian monogenic syndromes is available in specialised clinics. For complex diseases however, aggregation of common and low frequency variants into a “polygenic risk score” (PRS) is necessary due to their small individual effect sizes. PRSs for coronary artery disease (CAD), hypertension and atrial fibrillation have shown some modest success at a population level. However, scepticism remains whether the genetic effects in CV disease are sufficient to have meaningful clinical impact. This review explores recent efforts to utilise genomic data for risk prediction using CAD as an example.
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