February 23, 2021

A first-of-its-kind study, auspiced by Melbourne Genomics Health Alliance and published in The Laryngoscope, found genomic sequencing for babies born with isolated hearing loss to be cost-effective.

Authored by clinical genetics fellow Dr Lilian Downie and University of Melbourne health economist Dr Ilias Goranitis, the cost-effectiveness study is part of a broader clinical project investigating the impact of genomic testing for newborns with congenital deafness – hearing loss present at birth.

An incremental cost-effectiveness analysis was undertaken to assess the cost and outcomes of genomic sequencing for newborns with congenital hearing loss compared to usual testing. Usual care incurs a total cost of $3,200 per child over the entirety of their paediatric care (18 years), with 22% of children tested receiving a diagnosis.

Genomic sequencing costs a total of $4,200 per child over the same period but results in an additional 30 diagnoses per 100 children tested, with over half (52%) receiving a diagnosis.

“With genomics, we are able to tell many more families why they have a child with hearing issues,” Dr Lilian Downie said. “Doctors and the family can then create a tailored care plan, eliminating unnecessary interventions and creating efficiency and value for healthcare providers and hospitals.”

The study also determined how much the Australian taxpayer valued the genomic pathway. At $4,600, this is significantly higher than the difference in cost of $1,000 between genomic testing and usual care.

“Although access to hearing aids and cochlear implantation is not dependent on having a molecular diagnosis, identifying the cause of hearing loss can change medical management and result in more precise and personalised care,” Dr Downie said.

“This makes genomic testing for congenital hearing loss cost-effective and a worthy investment for the healthcare dollar.”

This study has been published in The Laryngoscope and is part of the Melbourne Genomics Congenital Deafness Clinical Flagship.

The children in the Congenital Deafness Clinical Flagship are patients of Austin Health, Monash Health or The Royal Children’s Hospital, and were aged between four weeks and one year at the time of the study. They are among more than 3,800 adult and paediatric patients who have received genomic testing through Melbourne Genomics.

The full list of Melbourne Genomics publications is available HERE.


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