Bao Yun, Zhang Pengyin, Quan Jing, Yang Xue, Xiao Yanqun, Hu Xiaobo
Shanghai Centre for Clinical Laboratory, 528 Hongshan Road, Shanghai, 200126, PR China.
Pract Lab Med. 2025 Jul 1;46:e00488. doi: 10.1016/j.plabm.2025.e00488. eCollection 2025 Sep.
Hereditary hearing loss is one of the most common birth defects in humans. Genetic screen in pregnant women and newborns could provide prenatal intervention or guidance on the early diagnosis and treatment. Currently, this screen has been widely applied; however, its accuracy and reliability have not been determined. The objective of this pioneering study was to evaluate the performance of clinical laboratories in Shanghai and other regions for their ability to analyze the genetic variants related with hearing loss.
The EQA program were carried out twice a year. We generated a sample panel consisting of five dry blood spots with genomic DNA from different cell lines with normal whole blood as the matrix. The panel included four samples with nine different pathogenic variants of as well as mitochondria DNA (mt DNA) and one wild type sample. The panel was distributed to participant laboratories for genetic analysis, and the results were compared and scored.
Thirty and twenty-nine clinical laboratories participated in the two EQA scheme in 2023, respectively. 28 (93.33 %) and 27 (93.10 %) laboratories achieved an acceptable or superior performance score(≥80). There were ten errors with eight false-negative and two false-positive results in the first EQA scheme, and seven errors with five false-negative and two false-positive in the second EQA scheme.
The results indicate that the majority of the clinical genetic analysis of deafness-related genes were satisfactory in China, while some participant laboratories needed further improvement. In addition, external quality assessment was demonstrated as an important method for monitoring the performance of clinical laboratories.
遗传性听力损失是人类最常见的出生缺陷之一。对孕妇和新生儿进行基因筛查可为产前干预或早期诊断及治疗提供指导。目前，这种筛查已得到广泛应用；然而，其准确性和可靠性尚未确定。这项开创性研究的目的是评估上海及其他地区临床实验室分析与听力损失相关基因变异的能力。
每年开展两次室间质量评价（EQA）计划。我们制备了一个样本板，由五个干血斑组成，其基因组DNA来自以正常全血为基质的不同细胞系。该样本板包括四个含有九种不同致病变异的样本以及线粒体DNA（mt DNA）样本和一个野生型样本。将样本板分发给参与实验室进行基因分析，并对结果进行比较和评分。
2023年分别有30个和29个临床实验室参加了这两次EQA计划。28个（93.33%）和27个（93.10%）实验室获得了可接受或优异的表现评分（≥80）。第一次EQA计划中有10个错误，包括8个假阴性和2个假阳性结果，第二次EQA计划中有7个错误，包括5个假阴性和2个假阳性。
结果表明，中国大多数与耳聋相关基因的临床基因分析结果令人满意，而一些参与实验室需要进一步改进。此外，外部质量评估被证明是监测临床实验室表现的重要方法。
