Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China.
PURPOSE
The benefits of concurrent newborn hearing and genetic screening have not been statistically proven due to limited sample sizes and outcome data. To fill this gap, we analyzed outcomes of newborns with genetic screening results.


METHODS
Newborns in China were screened for 20 hearing-loss-related genetic variants from 2012 to 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
Following up 12,778 of 1.2 million genetically screened newborns revealed a higher rate of hearing loss by three months of age among referrals from the initial hearing screening (60% vs. 5.0%, P < 0.001) and a lower rate of lost-to-follow-up/documentation (5% vs. 22%, P < 0.001) in the positive group than in the inconclusive group. Importantly, genetic screening detected 13% more hearing-impaired infants than hearing screening alone and identified 2,638 (0.23% of total) newborns predisposed to preventable ototoxicity undetectable by hearing screening.


CONCLUSION
Incorporating genetic screening improves the effectiveness of newborn hearing screening programs by elucidating etiologies, discerning high-risk subgroups for vigilant management, identifying additional children who may benefit from early intervention, and informing at-risk newborns and their maternal relatives of increased susceptibility to ototoxicity.
['Wang|Qiuju|Q|', 'Xiang|Jiale|J|', 'Sun|Jun|J|', 'Yang|Yun|Y|', 'Guan|Jing|J|', 'Wang|Dayong|D|', 'Song|Cui|C|', 'Guo|Ling|L|', 'Wang|Hongyang|H|', 'Chen|Yaqiu|Y|', 'Leng|Junhong|J|', 'Wang|Xiaman|X|', 'Zhang|Junqing|J|', 'Han|Bing|B|', 'Zou|Jing|J|', 'Yan|Chengbin|C|', 'Zhao|Lidong|L|', 'Luo|Hongyu|H|', 'Han|Yuan|Y|', 'Yuan|Wen|W|', 'Zhang|Hongyun|H|', 'Wang|Wei|W|', 'Wang|Jian|J|', 'Yang|Huanming|H|', 'Xu|Xun|X|', 'Yin|Ye|Y|', 'Morton|Cynthia C|CC|', 'Zhao|Lijian|L|', 'Zhu|Shida|S|http://orcid.org/0000-0002-8352-2175', 'Shen|Jun|J|', 'Peng|Zhiyu|Z|http://orcid.org/0000-0003-2349-750X']
D002681:China D003638:Deafness D005260:Female D020022:Genetic Predisposition to Disease D005820:Genetic Testing D005828:Genetics, Population D034381:Hearing Loss D006319:Hearing Loss, Sensorineural D006320:Hearing Tests D006801:Humans D007223:Infant D007231:Infant, Newborn D008297:Male D015997:Neonatal Screening
genetic screening newborns hearing loss hearing screening clinical benefits