Valley Children’s First in US To Use Genetic Testing to Prevent Hearing Loss

Valley Children’s Precision Medicine Program has been named the first U.S. hospital to use an advanced form of genetic testing to help save the hearing of babies born with certain variants of a gene linked to hearing loss.

Through a gentle cheek swab, doctors at the hospital are now able to diagnose a variant of the MT-RNR1 gene that is less equipped to resist potential hearing loss as a side effect of the usage of antibiotics to treat infants in neonatal intensive care units.

While aminoglycosides — the antibiotics in question — are efficient in treating infections in infants, they also run the risk of attacking human proteins vital to the development of hearing. Despite being safe for most infants, at least 1% of hearing loss found in these children can be attributed to the side effect of the antibiotic.

The new, non-invasive test allows doctors to check the compatibility of an infant’s MT-RNR1 gene to see whether or not hearing loss may develop with the use of aminoglycosides.

“Genes are like the individual instructions in a book that tell the body how to build and work, so understanding them is important in creating a treatment plan for each patient,” said Dr. Jeremy Woods, Valley Children’s geneticist and director of the Precision Medicine Program.

Woods went on to explain that the new test replaces older techniques that could not be analyzed in a time-efficient manner, forcing doctors to accept the potential risk of hearing loss when using aminoglycoside antibiotics.

“Previously, we would have to wait weeks for the results of MT-RNR1 genetic testing. Now, we can have results back in under an hour,” Woods said. “That gives us plenty of time to choose a safer antibiotic to treat a seriously ill baby.”

The advancement is one of several tools used within Valley Children’s Precision Medicine Program; earlier this year, genetic testing modules were integrated as part of patient electronic information systems, allowing providers to order comprehensive genetic tests to provide care recommendations based on the specific genetic makeup of the patient.

The hospital is also one of just five other institutions to participate in Project Baby Bear— a Medi-Cal pilot program using rapid whole genome sequencing to improve care for infants suffering from undiagnosed illnesses.

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