Child with a cochlear implant

A new initiative to provide genetic tests for childhood hearing loss will speed up diagnosis and enable further allied health and educational options for deaf and hard of hearing children and their families.

The recommendation, announced by the Department of Health and Aged Care Medical Services Advisory Committee (MSAC) on World Hearing Day, would allow children under 18 years with moderate to severe hearing loss to access genetic tests.

Congenital hearing loss occurs in around one per 1,000 live births in Australia and each year around 331 children are born with moderate to profound permanent childhood hearing loss. Research has shown there is a genetic basis underlying moderate to profound hearing loss in more than half of deaf and hard of hearing children.

Led by Dr Lilian Downie of the Institute’s Victorian Clinical Genetics Service and Associate Professor Valerie Sung from Murdoch Children’s Research Institute, the testing application was supported by 12 community and professional organisations, including Australian GenomicsAustralasian Newborn Hearing Screening CommitteeChildhood Hearing Australasian Medical Professionals (CHAMP) NetworkDeafness FoundationGenetics Society of Australasia including its Education, Ethics and Social Issues Committee and the Royal College of Pathologists of Australia.

MSAC reports the new genetic tests were safe, non-invasive and effective, and could avoid further investigations such as Magnetic Resonance Imaging (MRI).

The testing would provide prognostic information, which is valuable for families, and will enable the identification of underlying genetic causes of hearing loss detected during neonatal hearing screening tests.

Dr Lilian Downie said the tests could benefit families too. “If testing the affected individual finds a genetic variant causing their hearing loss, then the child’s relatives may choose to have testing to see if they also have the genetic variant.

“Depending on how the genetic variant can be inherited, it may also be useful to test reproductive partners for genetic variants that could result in a child being born deaf or hard of hearing, to support their ability to make informed reproductive decisions,” she said.  

Associate Professor Sung said there could also be non-health benefits to this testing, such as supporting the child to access the right schooling, including bilingual education and other accommodations they require. 

The announcement follows the establishment of an NHMRC-funded outcomes registry by Associate Professor Sung and her team to track deaf and hard of hearing children to assess their hearing, developmental, social, educational and health outcomes. The Prevention Innovation team is supported by Deaf Children Australia.

Learn more about childhood hearing loss.