Genetic testing for cardiovascular (CV) disease has had a profound impact on the diagnosis and evaluation of monogenic causes of CV disease, such as hypertrophic and familial cardiomyopathies, long QT syndrome, and familial hypercholesterolemia. The success in genetic testing for monogenic diseases has prompted special interest in utilizing genetic information in the risk assessment of more common diseases such as atherosclerotic cardiovascular disease (ASCVD). Polygenic risk scores (PRS) have been developed to assess the risk of coronary artery disease, which now include millions of single-nucleotide polymorphisms that have been identified through genomewide association studies. Although these PRS have demonstrated a strong association with coronary artery disease in large cross-sectional population studies, there remains intense debate regarding the added value that PRS contributes to existing clinical risk prediction models such as the pooled cohort equations. In this review, we provide a brief background of genetic testing for monogenic drivers of CV disease and then focus on the recent developments in genetic risk assessment of ASCVD, including the use of PRS. We outline the genetic testing that is currently available to all cardiologists in the clinic and discuss the evolving sphere of specialized cardiovascular genetics programs that integrate the expertise of cardiologists, geneticists, and genetic counselors. Finally, we review the possible implications that PRS and pharmacogenomic data may soon have on clinical practice in the care for patients with or at risk of developing ASCVD.

心血管 (CV) 疾病的基因检测对 CV 疾病的单基因病因的诊断和评估产生了深远的影响，例如肥厚型和家族性心肌病、长 QT 综合征和家族性高胆固醇血症。单基因疾病基因检测的成功促使人们对利用遗传信息进行更常见疾病（如动脉粥样硬化性心血管疾病（ASCVD）的风险评估）产生了特别的兴趣。已经开发了多基因风险评分 (PRS) 来评估冠状动脉疾病的风险，其中现在包括通过全基因组关联研究确定的数百万个单核苷酸多态性。尽管这些 PRS 在大型横断面人群研究中已证明与冠状动脉疾病密切相关，关于 PRS 对现有临床风险预测模型（如汇集队列方程）的附加值的贡献仍然存在激烈的争论。在这篇综述中，我们简要介绍了 CV 疾病单基因驱动基因检测的背景，然后重点介绍了ASCVD 的遗传风险评估，包括 PRS 的使用。我们概述了目前临床上所有心脏病专家都可以使用的基因检测，并讨论了整合心脏病专家、遗传学家和遗传咨询师专业知识的专业心血管遗传学项目不断发展的领域。最后，我们回顾了 PRS 和药物基因组学数据可能很快对患有 ASCVD 或有发展为 ASCVD 风险的患者的临床实践产生的影响。