LAUSR

Zhu 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 al 1 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 al 1 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. Data from the general neonatal population show that current NBHS programs have a low positive predictive value (PPV). Of the 3545388 newborns who underwent NBHS by the US Early Hearing Detection and Intervention programs in 2019, the referral rate was 1.7% (n = 61475). Of these 61475 babies, 38127 underwent confirmatory testing, which confirmed hearing loss in 5934 babies (0.2% of all screened newborns). 3 Thus, the PPV was 15.6% (5934 of 38127 babies). With the use of the combined screening approach by Zhu et al, 1 the referral rate for those who had positive NBHS test results and/or positive genetic findings was 3.3% (265 of 8078). Of these babies, 240 were followed up, of whom 0.6% (52 of 8078) had confirmed hearing loss. Although the higher referral and diagnostic rates are more likely because of the higher risk of hearing impairment in the NICU setting, the overall combined PPV was 21.7% (52 of 240), while the PPV for genetic