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评估成人先天性心脏病的基因检测:当前状态和患者的观点
Angela Onorato1,2, Kara Klinkebiel2, Rachel Levenseller2
1The Heart Center, Nationwide Children's Hospital, Columbus, OH. (A.O., I.K., K.T., V.G., M.L.M.).
Circulation. Genomic and precision medicine
|February 10, 2026
概括
大多数成年先天性心脏病患者有资格接受基因检测,但很少有人接受过. 患者表达了对基因测试的兴趣,受家庭健康因素的影响,强调需要更广泛的ACHD指南.
科学领域:
- 心血管遗传学 心血管遗传学
- 医学遗传学 医学遗传学
- 遗传性心脏病研究 遗传性心脏病研究
背景情况:
- 遗传变异显著影响先天性心脏病 (CHD) 的结果和计划生育.
- 目前的基因测试指南主要针对儿科心脏病患者,使成人心脏病患者 (ACHD) 服务不足.
- 在ACHD人群中,基因测试和患者感知的风景在很大程度上仍未被探索.
研究的目的:
- 调查目前在成人先天性心脏病 (ACHD) 患者中使用基因测试的情况.
- 评估 ACHD 患者对遗传检测的看法和兴趣.
- 为了确定在ACHD人口中采用基因测试的障碍.
主要方法:
- 一个前性队列调查是在一个大型的ACHD诊所进行的,持续了12个月.
- 336名ACHD患者 (≥18岁) 完成了评估人口统计,CHD病史,先前遗传测试和测试兴趣的调查.
- 根据当前的儿科指南,对基因测试的资格进行了评估.
主要成果:
- 大多数接受调查的ACHD患者 (68%) 希望进行基因检测,根据性别,教育和家庭状况而有所不同.
- 只有13%的人报告了先前的基因测试,尽管41%-98%的人符合基于儿科指南的标准.
- 干和左心室外流通道病变是最常见的心脏病类型;大多数患者没有孩子或心脏病家族史.
结论:
- 在ACHD患者的基因测试资格和利用之间存在很大的差距,可能是由于出生时代和缺乏具体指导方针.
- 患者对基因测试的兴趣很大,这强调了需要量身定制的建议.
- 制定广泛的基因测试指南对于ACHD至关重要,以改善获取和利用.
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