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Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study
Pei-Hsuan Lin1,2, Yu-Ting Chiang2,3, Cheng-Yu Tsai2,3
1Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.
Insights
Genomic screening alongside newborn hearing screening identifies 1.5% more infants at risk for sensorineural hearing impairment. This approach aids early diagnosis for genetic hearing loss and related familial conditions.
Area of Science:
- Genetics
- Audiology
- Genomic Medicine
Background:
- State-run newborn hearing screening (NBHS) programs often miss mild or late-onset sensorineural hearing impairment (SNHI).
- Genetic factors account for over 50% of pediatric SNHI cases.
- Advancements in genomic sequencing offer a potential solution to enhance NBHS.
Purpose of the Study:
- To assess the feasibility of integrating next-generation sequencing (NGS)-based genomic screening into NBHS.
- To evaluate the benefits and challenges of this combined screening approach.
- To identify infants at risk for SNHI missed by conventional screening methods.
Main Methods:
- A prospective study involving 8,261 newborns who underwent simultaneous NBHS and NGS-based genomic screening.
- Targeted sequencing of 46 known deafness genes.
- Genotyping and audiological assessments for subjects with confirmed genetic diagnoses.
Main Results:
- Conclusive genetic diagnoses were established in 164 newborns (1.97%).
- 126 infants (1.5%) with genetic SNHI risk passed conventional NBHS, highlighting a gap in physiological screening.
- Familial screening identified undiagnosed genetic syndromes in relatives, demonstrating broader diagnostic utility.
Conclusions:
- Targeted genomic sequencing complements NBHS by identifying infants at risk for SNHI.
- This integrated approach enables earlier diagnosis, particularly for non-syndromic genetic hearing loss.
- Genomic screening offers significant familial benefits through early detection of genetic conditions.
Objectives:
State-run newborn hearing screening (NBHS) programs have limitations in identifying children with mild or late-onset sensorineural hearing impairment (SNHI). Given that over 50% of pediatric SNHI cases are linked to genetic causes, the increasing accessibility of high-throughput, low-cost genomic sequencing may help address these shortcomings. This study investigates the feasibility of integrating a next-generation sequencing (NGS)-based genomic screening protocol into conventional NBHS and examines its potential benefits and challenges.
Methods:
A total of 8,261 newborns underwent simultaneous NBHS and NGS-based genomic screening targeting 46 deafness genes in this prospective study. The subjects' genotypes were determined, and those with conclusive genetic diagnoses received audiological assessments.
Results:
Conclusive genetic diagnoses were confirmed in 164 subjects, with 112 carrying variants in GJB2 and MTRNR1 and 52 carrying variants in other deafness genes. Notably, 126 of these subjects passed the NBHS, suggesting that an additional 1.5% (126/8,261) of children at risk for SNHI, who would have been missed by conventional physiological screening, can be identified through targeted genomic screening in the general population. Furthermore, one subject's father, who carried a COL4A5 variant, and three paternal relatives of another subject carrying an EDNRB variant (previously undiagnosed) were identified with Alport and Waardenburg syndromes, respectively, underscoring the familial benefits of this approach.
Conclusion:
Targeted genomic sequencing in newborns may serve as a valuable complement to conventional NBHS by identifying children at risk for SNHI and enabling early diagnosis in families with non-syndromic mimics.
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