Murdoch Children’s Research Institute and Melbourne Genomics Health Alliance are celebrating the milestone of 100 Australian families who now have a diagnosis for their child’s previously undiagnosed genetic disorder – thanks to genomic sequencing.
Many of the children were diagnosed in a Melbourne Genomics project led by clinical geneticist Dr Sue White from Murdoch Childrens Research Institute (MCRI), which investigated the benefit of genomic sequencing for children with undiagnosed genetic disorders.
The findings of this Australian-first study show that for children like many of the 100 diagnosed, genomic sequencing resulted in five times more diagnoses at 75 per cent less cost per diagnosis when compared to standard testing approaches. Changes to medical care were made for 28 per cent of children because their condition could be more precisely pinpointed.
“Some of the diagnoses have meant a change in care which is a significant benefit for children and their families,” said Dr White, “In some children, ineffective treatments were stopped, while in others, we have been able to put in place early monitoring for related health complications. It’s pretty clear that a diagnosis helps doctors take the best care possible of their patients, and this test delivers diagnoses in more than half of the children tested.”
One in 12 Australians have a rare condition and many of these are undiagnosed.
“This means fewer tests for kids, better diagnosis more quickly and better use of precious healthcare dollars,” said Associate Professor Clara Gaff, Executive Director of Melbourne Genomics Health Alliance. “We’ve shown that genomic sequencing has strong benefits for these children, and these findings are of interest across Australia and the world.”