通过整合临床心血管遗传学来推进精准医学 - - 亚洲视角
Iswaree D Balakrishnan1,2, Yasmin Bylstra2,3, Nikki Fong2,4
1Department of Cardiology, National Heart Centre Singapore, Singapore.
Genetics in medicine open
|December 13, 2024
概括
在亚洲实施心血管遗传 (CVG) 测试至关重要. 我们的研究表明,CVG服务通过澄清诊断和启用级联测试来增强患者护理,证明了可扩展性.
科学领域:
- 心血管遗传学 心血管遗传学
- 基因组医学是基因组医学.
- 临床实践实施实施
背景情况:
- 心血管遗传 (CVG) 测试在临床实践中的整合是公认的,但在亚洲人群中报告不足.
- 2020年,在新加坡国家心脏中心建立了一个全面的临床CVG服务.
研究的目的:
- 介绍在亚洲环境中开发临床CVG服务的经验.
- 分析这项服务对患者护理的影响.
主要方法:
- 回顾性数据收集关于转诊指示和遗传咨询和测试的临床实用性.
- 分析了超过2.5年的113名患者,包括人口统计数据和转诊原因.
主要成果:
- 心肌病和动脉动脉病是最常见的转诊原因.
- 在提供98名患者中,有63人接受了基因检测 (诊断,预测,家族隔离).
- 通过澄清诊断,排除遗传性疾病和促进级联测试,CVG测试为44名患者提供了价值.
结论:
- 该试点倡议提供了关于临床CVG服务开发的价值,障碍和机会的见解.
- 建立的服务增强了患者护理,并通过专家合作展示了可扩展性.
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