Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns

Peng, Qi; Huang, Suran; Liang, Yuan; Ma, Keze; Li, Siping; Yang, Lin; Li, Wenrui; Ma, Qiang; Liu, Qian; Zhong, Beilong; Lü, Xiaomei

doi:10.1089/gtmb.2016.0055

Cited by 22 publications

(24 citation statements)

References 20 publications

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“…The limited genetic screening entailed genotyping 20 variants in GJB2 , SLC26A4 , MT-RNR1 and GJB3 ( Supplementary Table S1 online) by MALDI-TOF mass spectrometry as previously validated and reported. 7,9 Genetic screening results were classified as follows: positive (biallelic variants in either GJB2 or SLC26A4 ), inconclusive (a heterozygous variant in GJB2 or SLC26A4 , or presence of any GJB3 variant), at-risk (any mitochondrial variant), and negative (none of the 20 screened variants identified). All homozygous results were Sanger confirmed.…”

Section: Methodsmentioning

confidence: 99%

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

Wang

Xiang

Sun

et al. 2018

Preprint

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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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Section: Methodsmentioning

confidence: 99%

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

Wang

Xiang

Sun

et al. 2018

Preprint

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“…4 ) In contrast, to our knowledge, Asian individuals have not been as well studied for cardiomyopathy, especially given that basic testing requires a large expensive sequencing panel; this is unlike hearing loss, for which many positive individuals can be identified through simple genetic tests. 5,6 A second challenge encountered in genetic testing is the receipt of an inconclusive test result because of the identification of 1 or more variants of uncertain significance (VUSs) in the absence of an explanation for disease. Receiving a VUS can lead to confusion for patients and physicians and can sometimes lead to improper use of the results for clinical decision making.…”

Section: Key Pointsmentioning

confidence: 99%

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy

Landry

Rehm

2018

JAMA Cardiol

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These results show a significantly higher positive detection rate and a significantly lower rate of inconclusive results in white individuals in comparison with underrepresented minorities. This suggests greater clinical usefulness of genetic testing for cardiomyopathy in white persons in comparison with people of other racial/ethnic groups. This clear disparity warrants further study to understand the gaps in usefulness, which may derive from a lack of clinical testing and research in underrepresented minority populations, in the hopes of improving genetic testing outcomes for cardiomyopathy in nonwhite groups.

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“…Studies have demonstrated the feasibility of concurrent hearing and genetic screening. [7][8][9][10][11] However, the benefits of such practices have not been quantified due to limited sample sizes and outcome data. Herein we report results of genetic screening on~1.2 million newborns in China and outcomes of 12,778 infants with genetic findings followed up via phone interviews.…”

Section: Introductionmentioning

confidence: 99%

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

Wang

Xiang

Sun

et al. 2019

Genetics in Medicine

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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 hearingloss-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.

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Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns

Cited by 22 publications

References 20 publications

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

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

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy

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

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