美国的基因测试利用情况 儿童间歇性和扩散性肺部疾病的注册
Laura A Voss1,2, Rebekah J Nevel3, Jennifer A Wambach4
1Pediatrics, Division of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Pediatric pulmonology
|April 1, 2025
概括
基因检测在儿童间歇性肺部疾病 (chILD) 中有所变化. 需要进一步努力,建立基因测试指南,并扩大对未明确肺部疾病儿童的外体/全基因组测序.
科学领域:
- 儿科肺病学 儿科肺病学
- 医学遗传学 医学遗传学
- 罕见疾病 罕见疾病
背景情况:
- 儿童间歇性和扩散性肺部疾病 (chILD) 是一种罕见的,异质的疾病.
- 准确的诊断对于治疗,预后和复发风险评估至关重要.
- 基因检测在确定CHILD的根本原因方面发挥着至关重要的作用.
研究的目的:
- 评估目前在美国国家儿童登记处注册的儿童基因测试的使用情况.
- 分析这一群体中基因测试的模式和结果.
主要方法:
- 追溯审查和分析来自美国国家儿童登记册的受试者的遗传数据.
- 基因检测结果与临床特征的相关性.
主要成果:
- 在609名注册儿童中,基因测试对55.5%的儿童进行.
- 诊断基因测试结果在22.8%的受试者中得到,与SFTPC相关的表面活性剂代谢功能障碍是最常见的诊断.
- 基因组是最常见的测试方法,其次是外基因组测序 (ES) 或全基因组测序 (WGS).
- 很大一部分患有未分类间歇性肺病 (ILD) 的儿童的基因检测有限或不存在,包括ES/WGS的不足利用.
结论:
- 在儿童中使用基因测试是不一致的.
- 对于怀疑CHILD的标准化遗传测试建议的制定是必要的.
- 建议更广泛地采用ES/WGS,以改善未被诊断的肺部疾病儿童的遗传发现.
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