Expanding Genetic Screening to Improve Newborn Hearing Loss Detection

In China, medical practitioners have used concurrent newborn hearing and limited genetic screening for over a decade to test for newborn hearing loss. However, Hao et al (2024) report that focusing solely on the variants that are currently screened is insufficient to identify genetic causes of hearing loss. Hearing loss is known to be genetically complex and involves more than 100 genes (DiStefano et al, 2019). 

Hao and colleagues enrolled newborns in a program to study the effects of extended gene sequencing on the detection of hearing loss genes. They utilized Newborn Screening with Targeted Sequencing (NESTS) on more than 7,500 newborns, sequencing for 90 common deafness genes, in addition to newborn hearing screens. After sequencing and analysis, 150 of 7,500 newborns were classified as genetically positive for one of the hearing loss genes. None of these babies would have been identified with only limited genetic screening. 

The authors conclude that by utilizing expanded genetic screening in conjunction with established newborn hearing screening, more babies can be identified with a hearing loss gene and appropriate follow up can be initiated. Hao and colleagues also conclude that their targeted sequencing is technically feasible and clinically relevant.

References

Hao C, Hu X, Guo R, et al. (2024) Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening. Eur J Hum Genet.

DiStefano MT, Hemphill SE, Oza AM, et al. (2019) ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med 21:2239–47.