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基因组转化研究:为个性化心脏功能分析和个性化心脏病学铺平道路。

Genomic translational research: Paving the way to individualized cardiac functional analyses and personalized cardiology.

作者信息

Pasipoularides Ares

机构信息

Department of Surgery, Duke University School of Medicine, Durham, NC, 27710, USA.

出版信息

Int J Cardiol. 2017 Mar 1;230:384-401. doi: 10.1016/j.ijcard.2016.12.097. Epub 2016 Dec 21.

Abstract

For most of Medicine's past, the best that physicians could do to cope with disease prevention and treatment was based on the expected response of an average patient. Currently, however, a more personalized/precise approach to cardiology and medicine in general is becoming possible, as the cost of sequencing a human genome has declined substantially. As a result, we are witnessing an era of precipitous advances in biomedicine and bourgeoning understanding of the genetic basis of cardiovascular and other diseases, reminiscent of the resurgence of innovations in physico-mathematical sciences and biology-anatomy-cardiology in the Renaissance, a parallel time of radical change and reformation of medical knowledge, education and practice. Now on the horizon is an individualized, diverse patient-centered, approach to medical practice that encompasses the development of new, gene-based diagnostics and preventive medicine tactics, and offers the broadest range of personalized therapies based on pharmacogenetics. Over time, translation of genomic and high-tech approaches unquestionably will transform clinical practice in cardiology and medicine as a whole, with the adoption of new personalized medicine approaches and procedures. Clearly, future prospects far outweigh present accomplishments, which are best viewed as a promising start. It is now essential for pluridisciplinary health care providers to examine the drivers and barriers to the clinical adoption of this emerging revolutionary paradigm, in order to expedite the realization of its potential. So, we are not there yet, but we are definitely on our way.

摘要

在医学发展的大部分历史中,医生应对疾病预防和治疗的最佳方式是基于普通患者的预期反应。然而,目前随着人类基因组测序成本大幅下降,一种更个性化/精确的心脏病学及整体医学方法正变得可行。因此,我们正见证着生物医学的飞速发展以及对心血管疾病和其他疾病遗传基础的日益深入理解的时代,这让人想起文艺复兴时期物理 - 数学科学以及生物学 - 解剖学 - 心脏病学创新的复兴,那是医学知识、教育和实践发生根本性变革与革新的平行时期。现在即将出现一种以患者为中心的个性化、多样化的医疗实践方法,它涵盖了基于基因的新诊断方法和预防医学策略的开发,并提供基于药物遗传学的最广泛的个性化治疗方案。随着时间的推移,基因组学和高科技方法的应用无疑将改变心脏病学乃至整个医学的临床实践,新的个性化医学方法和程序将被采用。显然,未来的前景远远超过目前的成就,目前的成就最好被视为一个充满希望的开端。对于多学科医疗服务提供者来说,现在至关重要的是审视这种新兴革命范式在临床应用中的驱动因素和障碍,以便加速实现其潜力。所以,我们尚未到达终点,但我们肯定正在前进的道路上。

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