Comprehensive Genomic Sequencing–Based Screening for Hearing Loss in the Neonatal Intensive Care Setting—Is It Time?
Tayoun, Ahmad N. Abou
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Introduction: Zhu et al assessed the utility of combining expanded genomic sequencing with traditional physiological newborn hearing screening (NBHS) in the neonatal intensive care unit (NICU). The benefits associated with combining genetic and physiological screening, as illustrated by Zhu et al1 and elsewhere,2 include the identification of babies at risk for hearing loss who can benefit from early intervention yet are missed by NBHS, as well as genetic factors that may help improve the management of hearing loss in confirmed cases. In a cohort of 8078 patients admitted to the NICU, Zhu et al1 show that exome sequencing identified 7 patients with hearing loss who already had a negative NBHS test result (false negatives), thus increasing the total number of patients with confirmed hearing loss by 13.5% (7 of 52) in this setting. Furthermore, of all patients with confirmed hearing loss, 75.0% (39 of 52) had genetic findings, thus also providing important genetic information for a substantial proportion of patients.