Genomic sequencing effective at hearing loss detection in newborns?

Hearing loss, including sensorineural and conductive hearing loss, is a common complication among newborns worldwide.1 The incidence is estimated to be from 0.1% to 0.3% among healthy babies and increases to 2% to 4% among patients admitted to the neonatal intensive care unit (NICU). Previous studies have indicated that hearing loss among newborns in the NICU was associated not only with clinical risk factors but also with genetic disorders.

So to elaborate a little more on this regard, researchers from the National Children's Medical Center, Shanghai, China conducted a cohort study which was published in the JAMA Network to assess the association between expanded genomic sequencing combined with hearing screening and detection of hearing loss as well as improvement in the neonatal intensive care unit.

They included a total of 8078 newborns who were admitted to the neonatal intensive care unit. A hearing screening test and the expanded genomic sequencing were administered to each patient.

Those who failed the hearing screening test or had positive genetic findings were referred for diagnostic audiometry at a median of 3 months of age. The primary outcome was hearing loss missed by hearing screening test. Secondary outcomes were genetic findings and benefits associated with the expanded genomic sequencing for clinical management of patients in the neonatal intensive care unit.

The results of the study showed Expanded genomic sequencing combined with hearing screening was associated with a 15.6% increase in cases of diagnosed hearing loss that were missed by hearing screening. Patients with genetic findings experienced a more severe degree of hearing loss than those without genetic findings.

Therefore, it was concluded that expanded genomic sequencing when combined with hearing screening may be effective at detecting hearing loss among patients in the neonatal intensive care unit.

Reference: Zhu Y, Hu L, Yang L, et al. Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit. JAMA Network Open. 2022;5(7):e2220986.