The stunning first results of the groundbreaking $25 million Melbourne Genomics program has given 315 families the first chance to identify the condition affecting children and adults so treatment could be tailored for them.
In many cases, including that of Ginger Salisbury, 3, conditions never before detected in Australia have been identified, giving certainty to families who previously had little idea what lay ahead or how to best manage their child’s mystery condition.
The success — which comes after a 2014 Herald Sun push to convince politicians to fund the program — opens the door for hundreds more sick Victorians to have their DNA sequenced.
Melbourne Genomics’ chair Catherine Walter said gene mapping also provided a diagnosis at a quarter of the cost of traditional practices.
“This work shows when and how genomic sequencing can bring benefit to patients, doctors and researchers,” she said.
“For infants with genetic syndromes, the results are spectacular: sequencing yielded five times more diagnoses at 75 per cent less cost per diagnosis.”
Under the first phase of the program, patients in five disease areas underwent genetic sequencing, which proved six times more effective in finding the exact condition they were suffering from than standard testing.
Almost half of those suffering severe nervous system disorders known as hereditary neuropathy were diagnosed — none had ever had their condition identified using standard testing.
Bolstered by the success, the Andrews Government this year added another five disease areas to the second phase of the project, which will be expanded next year so about 2000 Victorians access genomic sequencing.
“Genomic sequencing is revolutionising the way we diagnose rare and complex genetic conditions and Victoria is leading the way, here in Australia and across the world,” Health Minister Jill Hennessy said.
After years of not knowing what the future held for their daughter Ginger, Meg and Matt Salisbury were relieved in February when she became the first Australian, and only the 42nd person in the world, diagnosed with KAT6A-related syndrome.
While the condition leads to global developmental delay, the diagnosis brought reassurance for her long-term survival and areas that can be improved with early intervention.
“One of the first things I asked was ‘what is the life expectancy?’ To know that so far all the children we have found around the world are going strong and are OK, is ... incredible news to hear as parents,” Ms Salisbury said. “Now I can really focus on areas such as speech and eyesight. We have jumped straight onto it and we believe she will be able to talk.”