Victoria is leading the way in scientific research, investing $33.3 million in genomic sequencing, a cutting-edge process allowing for quick diagnosis of rare genetic conditions. “These tests help our sickest babies with rare conditions get diagnosed faster so they can get back home sooner – and, hopefully, lead happy and healthy lives,” said State Minister for Health, Jill Hennessy, who presented the project, alongside Premier Daniel Andrews.
Genomic sequensing tests provide quicker results and diagnosis for babies and children facing rare and undiagnosed diseases, who might otherwise have to spend months or years in intensive care, waiting for expensive and complex tests to uncover genetic conditions. In some cases, these time-consuming tests come up fruitless, resulting to children never finding the cause of illness and thus never getting the appropriate treatment.
Rapid genomic sequencing tests, on the other hand, can speed up diagnosis and deliver results up to 10 times faster than more traditional tests, according to the study conducted by the Melbourne Genomics Health Alliance, the Murdoch Children’s Research Institute, the Royal Children’s Hospital and the Monash Children’s Hospital.
This process not only quickly identifies the cause of illness, ensuring that can get the (often life-saving) treatment they need so they can leave hospital and return home with their families, but it also more cost effective. It is telling that this particular study, conducted for 18 months and involving 40 infants, some no more than 28 days old, hospitalised at the neonatal intensive care units at the Royal Children’s Hospital and the Monash Children’s Hospital, managed to save more than $500,000 in tests and hospital stay costs.
“These are more than just results,” Premier Daniel Andrews said, speaking of the study, which has been published in Genetics in Medicine journal. “This is proof that our investment in this world-leading technology is saving the lives of some of our sickest babies and kids, and saving families thousands of dollars in expensive medical tests.”
The Victorian Premier and Health Minister were Hennessy met four-year-old Louis, one of the 40 children who participatd in the study into genomic sequencing. Diagnosed with Leigh Disease, a rare condition resulting in progressive decline in neurological function, Louis was not expected to live more than a few years. Thanks to genomic sequencing, doctors have found the gene responsible for his condition, and against the odds, were able to use this information to determine a targeted treatment. Louis is now responding to treatment and is no longer considered terminal.
“As a parent I can only imagine how awful it would be to have a seriously sick child and not know what was wrong with them or what the best treatment is,” Premier Daniel Andrews said. “This technology is changing that and giving parents peace of mind.”