Doerfer Karl W, Sander Tara, Konduri Girija G, Friedland David R, Kerschner Joseph E, Runge Christina L
Medical College of Wisconsin, Department of Otolaryngology & Communication Sciences Milwaukee Wisconsin USA.
Charlotte Lozier Institute.
Laryngoscope Investig Otolaryngol. 2020 May 20;5(3):497-505. doi: 10.1002/lio2.379. eCollection 2020 Jun.
To evaluate the efficiency of in-house genetic testing for mutations causing the most common types of inherited, nonsyndromic, sensorineural hearing loss (SNHL).
Retrospective cohort study of 200 patients at a single, pediatric medical center with suspected or confirmed hearing loss who underwent either send out vs in-house genetic testing for mutations in GJB2/GJB6, SLC26A4, and MTRNR1. Primary outcome measure was the difference in mean turnaround time for send-out vs in-house genetic testing. Additional outcomes included associations between audiometric findings and genetic test results.
One hundred four send-out tests were performed between October 2010 and June 2014, and 100 in-house tests were performed between November 2014 and November 2016. The mean turnaround time for send-out testing was 53.7 days. The mean turnaround time for in-house testing was 18.9 days. This difference was statistically significant ( < .001). The largest component of turnaround time was the amount of time elapsed between receipt of specimen in the lab and final test result. These intervals were 47.0 and 18.3 days for send-out and in-house tests, respectively. Notably, the longest turnaround time for in-house testing (43 days) was less than the average turnaround time for send-out testing. In addition, we identified two simple audiometric parameters (ie, bilateral newborn hearing screen referral and audiometry showing symmetric SNHL) that may increase diagnostic yield of genetic testing.
The development of in-house genetic testing programs for inherited SNHL can significantly reduce testing turnaround times. Newborn hearing screening and audiometry results can help clinicians identify patients most likely to benefit from genetic testing.
IV.
评估内部基因检测对导致最常见类型遗传性、非综合征性、感音神经性听力损失（SNHL）的突变的检测效率。
对一家儿科医疗中心的200例疑似或确诊听力损失患者进行回顾性队列研究，这些患者接受了针对GJB2/GJB6、SLC26A4和MTRNR1突变的外部送检或内部基因检测。主要结局指标是外部送检与内部基因检测的平均周转时间差异。其他结局包括听力测定结果与基因检测结果之间的关联。
2010年10月至2014年6月期间进行了104次外部送检检测，2014年11月至2016年11月期间进行了100次内部检测。外部送检检测的平均周转时间为53.7天。内部检测的平均周转时间为18.9天。这种差异具有统计学意义（<0.001）。周转时间的最大组成部分是实验室收到标本到最终检测结果之间经过的时间。外部送检和内部检测的这些间隔分别为47.0天和18.3天。值得注意的是，内部检测最长的周转时间（43天）短于外部送检检测的平均周转时间。此外，我们确定了两个简单的听力测定参数（即双侧新生儿听力筛查转诊和显示对称SNHL的听力测定），这可能会提高基因检测的诊断率。
遗传性SNHL内部基因检测项目的开展可显著缩短检测周转时间。新生儿听力筛查和听力测定结果可帮助临床医生识别最有可能从基因检测中受益的患者。
IV级。
