精准遗传医学在先天性心脏病中的前景。
Prospects for precision genetic medicine in congenital heart disease.
机构信息
Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
出版信息
Curr Opin Genet Dev. 2022 Dec;77:101983. doi: 10.1016/j.gde.2022.101983. Epub 2022 Sep 14.
Abstract
Precision medicine, defined as tailoring medical care individually based upon relevant factors, is primarily implemented currently through the use of genetic variation. Over the past thirty years, the possibility of determining specific genetic variants underlying congenital heart disease has increased dramatically. This has created the potential for using precision genetic approaches to improve care and outcomes for patients and families with congenital heart disease. In this review, recent advances in understanding the roles of genetic variants in various outcomes, in developing novel therapeutic approaches, and in refining clinical trials for congenital heart disease are discussed.
摘要
精准医学是指根据相关因素为个体量身定制医疗护理，目前主要通过利用遗传变异来实现。在过去的三十年中，确定先天性心脏病潜在特定遗传变异的可能性显著增加。这为利用精准遗传方法改善患有先天性心脏病的患者和家庭的护理和结果提供了潜力。在这篇综述中，讨论了在理解遗传变异在各种结局中的作用、开发新的治疗方法以及完善先天性心脏病临床试验方面的最新进展。
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