在遗传性心血管疾病中使用指南导向基因测试的现实世界
Mauro Longoni1, Kanchan Bhasin2, Andrew Ward2
1Global Medical Affairs Organization, Illumina, Inc., San Diego, CA, United States.
Frontiers in cardiovascular medicine
|November 2, 2023
概括
遗传性心血管疾病的基因测试在美国使用不足. 尽管有指导方针,但很少有患有扩张性心肌病 (DCM),高性心肌病 (HCM) 或其他遗传性心脏病的患者接受推的遗传检测.
科学领域:
- 心血管医学 心血管医学
- 基因组学就是基因组学.
- 临床实践研究研究临床实践研究
背景情况:
- 心血管疾病是全球主要的死亡原因.
- 指导方针建议对遗传性心血管疾病进行基因检测,如DCM,HCM,LQTS,遗传性粉症和FH.
- 在常规实践中采用基因测试并未得到充分理解.
研究的目的:
- 评估在被诊断患有特定遗传性心血管疾病的患者中接受指南推的基因测试的情况.
- 发现扩张性心肌病 (DCM),高性心肌病 (HCM),长QT综合征 (LQTS),遗传性氨基粉症和家族性高胆固醇血症 (FH) 的遗传检测缺陷.
主要方法:
- 使用非识别的EHR数据和2017-2021年保险索赔的回顾性队列研究.
- 数据来自美国超过25万名临床医生和1.7亿名患者.
- 诊断后六个月内进行基因检测是主要的结果指标.
主要成果:
- 包括224,641名被诊断患有DCM,HCM,LQTS,遗传性氨基粉症或FH的患者.
- 基因检测率很低:DCM (0.8%),HCM (1.6%),LQTS (1.2%),遗传性粉样性病 (6.0%) 和FH (1.5%).
- 在这些疾病中,在基因测试中发现了显著的护理差距.
结论:
- 遗传性心血管疾病的基因测试在美国被严重利用不足.
- 现实世界的数据表明,目前的基因测试指南在临床实践中很少被遵循.
- 实质上有必要改善对心血管疾病的基因组医疗保健的实施.
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