Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.
J Atheroscler Thromb. 2021 Apr 1;28(4):305-313. doi: 10.5551/jat.60087. Epub 2020 Nov 21.
Precision or personalized medicine is currently gaining a lot of attention. Clinical evidence for its effectiveness has been established based on randomized clinical trials accounting for classical risk factors, such as hypertension, diabetes, and serum lipids. However, besides such classical risk factors, the genetic background should be considered, at least for heritable traits, including atherosclerotic cardiovascular disease (ASCVD). Such classical risk factors are almost always incidents that have already occurred in which it may be too late to start treatment, instead of indicators of presymptomatic state. Human genome information is associated with most traits, including ASCVD. Two methods of implementing precision medicine for ASCVD using human genome information are currently being investigated: the use of rare genetic variations that have large effect sizes and polygenic risk scores that are composed of multiple common genetic variations. This review article emphasizes the importance of clinical as well as genetic diagnoses when implementing precision medicine. Precision medicine should be considered based on comprehensive genetic analyses, encompassing rare to common genetic variations.
精准医学或个性化医学目前受到广泛关注。基于考虑了高血压、糖尿病和血脂等经典风险因素的随机临床试验，已经确立了其有效性的临床证据。然而，除了这些经典风险因素之外，还应考虑遗传背景，至少对于遗传性特征，包括动脉粥样硬化性心血管疾病 (ASCVD) 应如此。此类经典风险因素几乎都是已经发生的事件，此时开始治疗可能为时已晚，而不是预示前驱状态的指标。人类基因组信息与大多数特征有关，包括 ASCVD。目前正在研究两种使用人类基因组信息实施精准医学的方法：使用具有较大效应量的罕见遗传变异和由多个常见遗传变异组成的多基因风险评分。本文综述强调了在实施精准医学时临床和遗传诊断的重要性。应基于包含罕见到常见遗传变异的综合遗传分析来考虑精准医学。
