Breakthrough DNA test reveals cause of deafness
The success of a DNA screening trial has allowed dozens of deaf babies to gain tailored treatment, raising hopes the test can be rolled for all hearing-impaired newborns.
VIC News
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Genetic sequencing has been able to triple the number of Victorian families told why their babies are deaf, raising hopes the test can be rolled for all hearing-impaired newborns.
The success of a DNA screening trial has allowed dozens of deaf babies to gain tailored treatment, while informing families what steps they need to take to avoid health issues for future children.
Up to 350 Australian babies born a year with congenital deafness could benefit through early diagnosis, and Melbourne Genomics is keen to see its sequencing program complement existing newborn hearing screening.
With 56 per cent of families able to gain a genetic diagnosis for their child’s hearing loss through the sequencing — compared to just 21 per cent through usual methods — Melbourne Genomics’ Dr Lilian Downie said DNA testing offered a range of benefits.
“The main thing this has added is we are able to tell families why they have a child with hearing issues,” Dr Downie said. “They are able to have a management plan tailored to their specific diagnosis.”
More than 100 babies born with hearing loss in both ears had their DNA sequenced during the two year trial at the The Royal Children’s Hospital and Monash Health. Results published in the European Journal of Human Genetics show almost half of those diagnosed had an inherited disorder, allowing their parents to make informed choices regarding their future family planning.
Although Victoria’s newborn screening identified Eleanor Pledge’s deafness when she was first born, it was only the Melbourne Genomics’ Congenital Deafness project which showed she had much greater issues.
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Sequencing the now two-year-old’s DNA revealed a mutation causing hypoparathyroidism, deafness, renal anomaly syndrome, giving her parents a chance to gain monitoring and medication to avoid dangerous kidney complications.
With about 50 children born with congenital deafness in Victoria each year, Dr Downie said the $2000 DNA sequencing could make a huge difference if supported by the State of Federal Government.