Otolaryngology Research Increasingly Supports Genetic Screening to Evaluate Pediatric Hearing Loss

Panel tests including many genetic mutations known to cause hearing loss may be a better option for many families, said Dr. Smith. For example, the OtoSCOPE test he developed includes mutations from 66 genes and costs $1,500, which is less than certain single gene tests. Screening for a GJB2 mutation can cost nearly $1,000, he said. The test can help predict a patient’s future hearing through audioprofiling, which involves examining clinical data from patients with the same type of hearing loss and generating a collective, comprehensive picture of all the traits associated with it, he added.

“Comprehensive genetic testing for hearing loss like the OtoSCOPE is a good, cost-effective choice,” said Kay Chang, MD, associate professor in the department of otolaryngology at Stanford University Medical School in Palo Alto, Calif. “As whole genome sequencing becomes more readily available and cheaper, it may become the favored diagnostic method.”—DL