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儿科听力损失患者的遗传学评估结果:2008-2022年回顾性研究

Sarah Mazzola¹, Allison Schreiber¹

¹Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, United States of America.

American journal of otolaryngology

|December 22, 2023

概括

对儿科听力损失的基因测试产生了34%的诊断率. 遗传咨询对受影响儿童及其家属的诊断和管理产生重大影响.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
听力学听力学是指听力学.

背景情况:

儿科发病性听力损失 (POHL) 是一个与各种病因有关的重大问题.
遗传因素是POHL的主要贡献者,需要专门的评估.
了解基因测试对POHL诊断和管理的影响至关重要.

研究的目的:

调查儿童听力损失中遗传评估和测试的诊断收益率.
评估遗传咨询对POHL的诊断和管理的影响.
确定基因测试对患者和家庭管理策略的影响.

主要方法:

由遗传咨询师评估的POHL患者的回顾性图表审查 (2008-2022年).
在REDCap数据库中收集的数据.
进行了描述性统计分析.

主要成果:

429名POHL患者接受了遗传评估.
76%的患者推进行基因检测,70%的患者完成了基因检测.
观察到的诊断率为34%,其中41%的诊断是综合征性.
对19%的患者和26%的家庭成员提出了管理建议.
随着时间的推移,人们注意到评估,测试和诊断的趋势越来越大.

结论:

基因检测在14年内实现了34%的POHL诊断率.
遗传咨询增强了POHL患者和家属的诊断旅程和管理.
遗传咨询师和听力损失管理专家之间的合作至关重要.

关键词:

基因检测是一种基因检测.遗传学遗传学是一个多学科诊所多学科诊所儿科听力损失儿科听力损失

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