Sanghvi Mihir M, Young William J, Naderi Hafiz, Burns Richard, Ramírez Julia, Bell Christopher G, Munroe Patricia B
William Harvey Research Institute (M.M.S., W.J.Y., H.N., R.B., J.R., C.G.B., P.B.M.), Queen Mary University of London, United Kingdom.
NIHR Barts Biomedical Research Centre (M.M.S., W.J.Y., H.N., R.B., C.G.B., P.B.M.), Queen Mary University of London, United Kingdom.
Arterioscler Thromb Vasc Biol. 2025 Jun;45(6):866-881. doi: 10.1161/ATVBAHA.125.319221. Epub 2025 Apr 17.
Advances in genomic technologies have significantly enhanced our understanding of both monogenic and polygenic etiologies of cardiovascular disease. In this review, we explore how the utilization of genomic information is bringing personalized medicine approaches to the forefront of cardiovascular disease management. We describe how genomic data can resolve diagnostic uncertainty, support cascade screening, and inform treatment strategies. We discuss how genome-wide association studies have identified thousands of genetic variants associated with polygenic cardiovascular diseases, and how integrating these insights into polygenic risk scores can enhance personalized risk prediction beyond traditional clinical algorithms. We detail how pharmacogenomics approaches leverage genotype information to guide drug selection and mitigate adverse events. Finally, we present the paradigm-shifting approach of gene therapy, which holds the promise of being a curative intervention for cardiovascular conditions.
基因组技术的进步显著增强了我们对心血管疾病单基因和多基因病因的理解。在本综述中,我们探讨了基因组信息的利用如何将个性化医疗方法推向心血管疾病管理的前沿。我们描述了基因组数据如何解决诊断不确定性、支持级联筛查并为治疗策略提供信息。我们讨论了全基因组关联研究如何识别出数千种与多基因心血管疾病相关的遗传变异,以及如何将这些见解整合到多基因风险评分中,以超越传统临床算法增强个性化风险预测。我们详细介绍了药物基因组学方法如何利用基因型信息来指导药物选择并减轻不良事件。最后,我们介绍了基因治疗这一范式转变的方法,它有望成为心血管疾病的治愈性干预手段。