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Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

By Qiuju Wang, Jiale Xiang, Jun Sun, Yun Yang, Jing Guan, Dayong Wang, Cui Song, Ling Guo, Hongyang Wang, Yaqiu Chen, Junhong Leng, Xiaman Wang, Junqing Zhang, Bing Han, Jing Zou, Chengbin Yan, Lidong Zhao, Hongyu Luo, Yuan Han, Wen Yuan, Hongyun Zhang, Wei Wang, Jian Wang, Huanming Yang, Xun Xu, Ye Yin, Cynthia C. Morton, Lijian Zhao, Shida Zhu, Jun Shen, Zhiyu Peng

Posted 21 Dec 2018
bioRxiv DOI: 10.1101/502088 (published DOI: 10.1038/s41436-019-0481-6)

Purpose: Concurrent newborn hearing and genetic screening has been reported, but its benefits have not been statistically proven due to limited sample sizes and outcome data. To fill this gap, we analyzed outcomes of a large number of newborns with genetic screening results. Methods: Newborns in China were screened for 20 hearing-loss-related genetic variants from 2012-2017. Genetic results were categorized as positive, at-risk, inconclusive, or negative. Hearing screening results, risk factors, and up-to-date hearing status were followed-up via phone interviews. Results: We completed genetic screening on one million newborns and followed up 12,778. We found that a positive genetic result significantly indicated a higher positive predictive value of the initial hearing screening (60% vs. 5.0%, P<0.001) and a lower rate of loss-to-follow-up (5% vs. 22%, P<0.001) than an inconclusive one. Importantly, 42% of subjects in the positive group with reported or presymptomatic hearing loss were missed by conventional hearing screening. Furthermore, genetic screening identified 0.23% of subjects predisposed to preventable ototoxicity. Conclusion: Our results demonstrate that limited genetic screening identified additional cases, reduced loss-to-follow-up, and informed families of ototoxicity risks, providing convincing evidence to support integrating genetic screening into universal newborn hearing screening programs.

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