New Medicare items are now available for genetic testing for deaf and hard of hearing children who have moderate to severe hearing loss.
The items allow individuals whose hearing loss presented before age 18 to receive confirmation of whether the cause is genetic, which can inform clinical management and result in better health outcomes.
Experts say the tests will hasten diagnosis and enable more educational and allied health options, will provide prognostic information which is valuable for families, and enable identification of underlying genetic causes of hearing loss detected during neonatal hearing tests.
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.
The new Medicare Benefits Schedule (MBS) items 73440, 73441, 73442, 73443 and 73444 were introduced late last year.
Families remain out of pocket
Associate Professor Valerie Sung from Murdoch Children’s Research Institute (MCRI) told Hearing Practitioner Australia that the item numbers had been available since November 2023 for whole exome sequencing for children with moderate to severe hearing loss.
“However, the amount currently approved is not sufficient for most laboratories in Australia to do the testing, so families are still out-of-pocket for the exome sequence test,” she said.
Dr Lilian Downie of the MCRI’s Victorian Clinical Genetics Service told Hearing Practitioner Australia that the genomic testing could look for most genetic causes of hearing loss in one test.
“The item numbers are live but are not in use by any Australian laboratories at this time as they are not adequatelly reimbursed,” she said.
Exome sequencing is a genomic technique for sequencing the protein-coding regions of genes in a genome (all of a person’s genes.) It is an efficient and cost-effective way to identify variations in genes that are most likely to cause a specific condition or disease.
Exome sequencing can be used to detect genetic variations by analysing saliva or blood samples.
Sung and Downie led a consortium of 12 community and professional organisations in the application to the Medical Services Advisory Committee.
More than 100 genes in half of childhood deafness
“Childhood hearing loss is the most common condition of all those included in newborn screening,” the application stated. “It has a genetic basis in more than 50% of cases.
“Genetic causes are highly variable with more than 100 genes currently implicated in childhood onset hearing loss.”
Congenital or childhood onset deafness, although most frequently isolated, could be the first sign of more complex medical problems and syndromes making molecular diagnosis of these conditions well suited to next generation sequencing, the consortium added.
It said early understanding of the cause of a child’s hearing loss would guide intervention and service use, streamlining care and maximising a child’s communication and developmental potential.
Congenital hearing loss occurs in about one per 1,000 live births in Australia and each year about 330 children are born with moderate to profound permanent childhood hearing loss.
When recommending to the Health Minister in March 2023 that the tests receive Medicare funding, MSAC said they were safe, non-invasive and effective, and could avoid further investigations such as MRI tests.
Downie said tests could also benefit families.
“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,” she said.
“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.”
Sung added that non-health benefits of the testing could include supporting the child to access the most appropriate schooling including bilingual education and other required accommodations.
The community and professional organisations behind the application included Australian Genomics, Australasian Newborn Hearing Screening Committee, Childhood Hearing Australasian Medical Professionals (CHAMP) Network, Deafness Foundation, Genetics Society of Australasia and the Royal College of Pathologists of Australasia.
Read more: New MBS items for genetic testing for childhood hearing loss
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