Qiuju Wang1, Jiale Xiang2, Jun Sun3,4, Yun Yang2, Jing Guan1, Dayong Wang1, Cui Song5,6, Ling Guo7, Hongyang Wang1, Yaqiu Chen8, Junhong Leng8, Xiaman Wang9, Junqing Zhang3, Bing Han1, Jing Zou10, Chengbin Yan2, Lidong Zhao1, Hongyu Luo2, Yuan Han11, Wen Yuan11, Hongyun Zhang9, Wei Wang12, Jian Wang13,14, Huanming Yang13,14, Xun Xu13,15, Ye Yin2, Cynthia C Morton5,16,17, Lijian Zhao18, Shida Zhu19,20,21, Jun Shen22, Zhiyu Peng23. 1. Department of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China. 2. BGI Genomics, BGI-Shenzhen, Shenzhen, China. 3. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China. 4. Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin, China. 5. Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. 6. Children's Hospital of Chongqing Medical University, Chongqing, China. 7. Jining Maternal and Child Health Care Service Center, Jining, China. 8. Tianjin Women and Children's Health Centre, Tianjing, China. 9. BGI Clinical Laboratory, BGI-Shenzhen, Shenzhen, China. 10. MGI, BGI-Shenzhen, Shenzhen, China. 11. Wuhan BGI Clinical Laboratory, BGI-Shenzhen, Wuhan, China. 12. BGI-Beijing, BGI-Shenzhen, Beijing, China. 13. BGI-Shenzhen, Shenzhen, China. 14. James D. Watson Institute of Genome Sciences, Hangzhou, China. 15. China National GeneBank, BGI-Shenzhen, Shenzhen, China. 16. Manchester Center for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester, UK. 17. Broad Institute of Harvard and MIT, Cambridge, MA, USA. 18. BGI Clinical Laboratory, BGI-Shenzhen, Shenzhen, China. zhaolijian@bgi.com. 19. BGI-Shenzhen, Shenzhen, China. zhushida@genomics.cn. 20. China National GeneBank, BGI-Shenzhen, Shenzhen, China. zhushida@genomics.cn. 21. Shenzhen Engineering Laboratory for Innovative Molecular Diagnostics, Shenzhen, China. zhushida@genomics.cn. 22. Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. jshen5@bwh.harvard.edu. 23. BGI Genomics, BGI-Shenzhen, Shenzhen, China. pengzhiyu@bgi.com.
Abstract
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.
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.
Authors: Hongyang Wang; Yun Gao; Jing Guan; Lan Lan; Ju Yang; Wenping Xiong; Cui Zhao; Linyi Xie; Lan Yu; Dayong Wang; Qiuju Wang Journal: Front Cell Dev Biol Date: 2021-02-26