When little Melbourne boy Oli Vassallo was born, his mum and dad had more questions than other first-time parents.
He had a skin condition which baffled his doctors – his skin peeled off within the first few hours of birth after having a bath.
“What could it be, what is this?” his mum Gemma remembers asking.
“Will we ever get an answer? Will we find out if we were carriers?”
But thanks to a groundbreaking Victorian genetic testing program, Oli now has a diagnosis.
Victorians suffering from rare or undiagnosed illnesses are now being given the chance to find out more about their diseases, thanks to the world-leading DNA sequencing program.
It’s helped more than 2000 patients, including little Oli.
“It’s quite a rare condition, so it would have been quite difficult to make that diagnosis without that genetic testing,” Associate Professor Tiong Tan, from Victorian Clinical Genetics Services, said.
The $33 million State Government Genomics Health Alliance is now helping patients get a diagnosis and a better treatment plan for that diagnosis.
Thirty per cent of the patients already tested received a precise diagnosis for rare genetic diseases, cancers or superbugs that previously would have taken years or even decades to pinpoint.
A simple blood test is taken and the patient has their result within four to six months.
“It really allowed us to get an answer and think to the future,” Oli’s mum said.