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Australia’s first rapid DNA sequencing programme saves lives of children with rare genetic conditions

Australias first rapid DNA sequencing programme saves lives of children with rare genetic conditions

Victorian Government in Australia announced
that Victoria’s sickest babies and children will get the tests and
diagnosis they need up to 10 times faster, thanks to an Australian first rapid
DNA sequencing program funded by the Government.

Victoria is the first Australian state to invest into
genomic testing to give Victorians with rare genetic conditions the answers
they need sooner, without the cost.

For babies and children in intensive care with rare and
undiagnosed diseases, it can take months or years of expensive and complex
tests to uncover rare genetic conditions – some may never find out the cause of
their illness, which means they never get the treatment they need.

Genomic tests provide quicker results and diagnosis,
ensuring they can get the treatment they need so they can leave hospital and
return home with their families – in some cases, saving their lives.

The results of the study conducted by Melbourne Genomics
Health Alliance, the Murdoch Children’s Research Institute, the Royal
Children’s Hospital and the Monash Children’s Hospital, found that rapid
genomic sequencing tests can speed up diagnosis and deliver results up to 10
times faster than more traditional tests.

Fewer tests and time spent in hospital also means genomic
sequencing is more cost effective. More than A$500,000 was saved in intensive
care unit costs in this study.

The 18-month project involved 40 children with a median age
of just 28 days from neonatal intensive care units at the Royal Children’s
Hospital and the Monash Children’s Hospital.

Premier Daniel Andrews and Minister for Health Jill Hennessy
today met four-year-old Louis, who was one of 40 kids with a rare or
undiagnosed condition that participated in a ground-breaking study into genomic

According to the press release, Louis was initially
diagnosed with a terminal condition at just five months old known as Leigh
Disease, which results in a progressive decline in neurological functions. His
parents were told he was unlikely to survive for 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.

“These are more
than just results – 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,” Premier Daniel Andrews said.

These breakthroughs are possible thanks to the Victorian Government’s
A$33.3 million investment in genomic sequencing.

The results of the 18-month project have been
published in Genetics in Medicine journal.

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