Leopold Jane A
Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School.
Expert Rev Precis Med Drug Dev. 2022;7(1):4-16. doi: 10.1080/23808993.2022.2028548. Epub 2022 Jan 24.
Cardiovascular disease persists as the leading cause of death worldwide despite continued advances in diagnostics and therapeutics. Our current approach to patients with cardiovascular disease is rooted in reductionism, which presupposes that all patients share a similar phenotype and will respond the same to therapy; however, this is unlikely as cardiovascular diseases exhibit complex heterogeneous phenotypes.
With the advent of high-throughput platforms for omics testing, phenotyping cardiovascular diseases has advanced to incorporate large-scale molecular data with classical history, physical examination, and laboratory results. Findings from genomics, proteomics, and metabolomics profiling have been used to define more precise cardiovascular phenotypes and predict adverse outcomes in population-based and disease-specific patient cohorts. These molecular data have also been utilized to inform drug efficacy based on a patient's unique phenotype.
Multiscale phenotyping of cardiovascular disease has revealed diversity among patients that can be used to personalize pharmacotherapies and predict outcomes. Nonetheless, precision phenotyping for cardiovascular disease remains a nascent field that has not yet translated into widespread clinical practice despite its many potential advantages for patient care. Future endeavors that demonstrate improved pharmacotherapeutic responses and associated reduction in adverse events will facilitate mainstream adoption of precision cardiovascular phenotyping.
尽管诊断和治疗技术不断进步,但心血管疾病仍是全球主要的死亡原因。我们目前治疗心血管疾病患者的方法基于还原论,该理论假定所有患者具有相似的表型,对治疗的反应也相同;然而,这是不太可能的,因为心血管疾病表现出复杂的异质表型。
随着用于组学检测的高通量平台的出现,心血管疾病的表型分析已经发展到将大规模分子数据与经典病史、体格检查和实验室结果相结合。基因组学、蛋白质组学和代谢组学分析的结果已被用于定义更精确的心血管表型,并预测基于人群和特定疾病的患者队列中的不良结局。这些分子数据也已被用于根据患者独特的表型来指导药物疗效。
心血管疾病的多尺度表型分析揭示了患者之间的差异,这些差异可用于个性化药物治疗和预测结局。尽管如此,心血管疾病的精准表型分析仍是一个新兴领域,尽管其对患者护理有许多潜在优势,但尚未转化为广泛的临床实践。未来那些能证明药物治疗反应改善且不良事件相关减少的努力将促进精准心血管表型分析的主流应用。