Fox Caroline S, Hall Jennifer L, Arnett Donna K, Ashley Euan A, Delles Christian, Engler Mary B, Freeman Mason W, Johnson Julie A, Lanfear David E, Liggett Stephen B, Lusis Aldons J, Loscalzo Joseph, MacRae Calum A, Musunuru Kiran, Newby L Kristin, O'Donnell Christopher J, Rich Stephen S, Terzic Andre
Circulation. 2015 May 12;131(19):1715-36. doi: 10.1161/CIR.0000000000000211. Epub 2015 Apr 16.
The field of genetics and genomics has advanced considerably with the achievement of recent milestones encompassing the identification of many loci for cardiovascular disease and variable drug responses. Despite this achievement, a gap exists in the understanding and advancement to meaningful translation that directly affects disease prevention and clinical care. The purpose of this scientific statement is to address the gap between genetic discoveries and their practical application to cardiovascular clinical care. In brief, this scientific statement assesses the current timeline for effective translation of basic discoveries to clinical advances, highlighting past successes. Current discoveries in the area of genetics and genomics are covered next, followed by future expectations, tools, and competencies for achieving the goal of improving clinical care.
随着近期诸多里程碑式成就的取得,遗传学和基因组学领域有了长足发展,其中包括确定了许多心血管疾病相关基因座以及药物反应的变异性。尽管取得了这一成就,但在理解和推进直接影响疾病预防和临床护理的有意义的转化方面仍存在差距。本科学声明的目的是弥合基因发现与其在心血管临床护理中的实际应用之间的差距。简而言之,本科学声明评估了将基础发现有效转化为临床进展的当前时间线,突出了过去的成功案例。接下来涵盖遗传学和基因组学领域的当前发现,随后是对实现改善临床护理目标的未来期望、工具和能力。