Children's Healthcare of Atlanta, Atlanta, Georgia.
Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Heart Rhythm. 2020 Jan;17(1):106-112. doi: 10.1016/j.hrthm.2019.06.015. Epub 2019 Jun 20.
The efficacy of cascade screening for the inherited heart conditions long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) is incompletely characterized.
The purpose of this study was to examine the use of genetic testing and yield of cascade screening across diverse regions in the United States and to evaluate obstacles to screening in multipayer systems.
An institutional review board-approved 6 United States pediatric center retrospective chart review of LQTS and HCM patients from 2008-2014 was conducted for (1) genetic test completion and results and (2) family cascade screening acceptance, methods, results, and barriers.
The families of 315 index patients (mean age 9.0 ± 5.8 years) demonstrated a 75% (254) acceptance of cascade screening. The yield of relative screening was 39% (232/601), an average of 0.91 detected per family. Genetic testing was less utilized in HCM index patients and relatives. Screening participation was greater in families of gene-positive index patients (88%) (P <.001) compared to gene-negative patients (53%). Cascade method utilization: Cardiology-only 45%, combined genetic and cardiology 39%, and genetic only 16%. Screening yield by method: combined 57%, genetic-only 29%, and cardiology-only 20%. Family decisions were the leading barriers to cascade screening (26% lack of followthrough and 26% declined), whereas insurance (6%) was the least cited barrier.
Family participation in cascade screening is high, but the greatest barriers are family mediated (declined, lack of followthrough). Positive proband genetic testing led to greater participation. Cardiology-only screening was the most utilized method, but combined cardiology and genetic screening had the highest detection.
长 QT 综合征（LQTS）和肥厚型心肌病（HCM）遗传心脏疾病的级联筛查的疗效尚未完全明确。
本研究旨在检测美国不同地区遗传检测的使用情况和级联筛查的检出率，并评估多付费方系统中筛查的障碍。
对 2008 年至 2014 年期间的 6 个美国儿科中心的 LQTS 和 HCM 患者进行了机构审查委员会批准的回顾性图表审查，以评估（1）基因检测的完成情况和结果以及（2）家族级联筛查的接受情况、方法、结果和障碍。
315 名指数患者（平均年龄 9.0 ± 5.8 岁）的家属中，有 75%（254 人）接受了级联筛查。相对筛查的检出率为 39%（232/601），平均每个家庭检出 0.91 例。HCM 指数患者及其亲属的基因检测使用率较低。阳性基因指数患者（88%）的家属较阴性基因指数患者（53%）更愿意参与筛查（P<0.001）。筛查参与情况：心内科 45%、心内科联合基因科 39%、基因科 16%。按方法进行筛查的检出率：联合 57%、基因科 29%、心内科 20%。家庭决策是级联筛查的主要障碍（26%的家庭缺乏后续行动，26%的家庭拒绝），而保险（6%）是最不重要的障碍。
家族参与级联筛查的比例较高，但最大的障碍是家庭因素（拒绝、缺乏后续行动）。阳性先证者基因检测导致了更高的参与度。仅心内科筛查是最常用的方法，但心内科和基因科联合筛查的检出率最高。
