Receiving a diagnosis of a genetic condition in a newborn can be a confronting experience, but experts say early detection can also be lifesaving. Researchers in Adelaide are looking to expand a screening program to help identify up to 600 additional genetic conditions.
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00:00At three days old, Max was diagnosed with a rare condition called PKU.
00:08We had no idea about it, we'd never heard of it.
00:11PKU is an inherited blood disorder which can affect how the body processes protein
00:17and can cause serious health problems if untreated.
00:21We kind of cried about it until we kind of realistically hit us and went,
00:25you know what, we can manage this.
00:27It's one of more than 30 conditions which can currently be detected
00:31through newborn heel prick blood samples.
00:34But now, researchers are working to expand the program
00:37to screen for more than 600 conditions using genomics and metabolomics
00:43in a bid to detect more treatable conditions sooner.
00:46Early detection allows early intervention and treatment
00:49and just as the current program has really saved thousands of lives,
00:54we're hoping by expanding on that program
00:57we can make a difference to the health outcomes for these babies.
01:00They're looking for conditions like immune and metabolic dysregulation,
01:04congenital deafness and neurological issues.
01:07And they've already made some breakthroughs.
01:10We've issued five, what we call a high chance report
01:13and those would have otherwise been undetected.
01:16Those families are now receiving specialised support
01:19from Adelaide's Women's and Children's Hospital.
01:22For the Macbeths, it's welcome progress.
01:25If we can do testing that picks up these things when they're little,
01:29we would be mad not to do it.
01:31As for Max, an early diagnosis and careful management
01:35through monitoring, diet and medication means things are looking good.
01:39He'll live a relatively normal life.
01:42He might just be a bit different with food at school and stuff.
01:45It's just managing it and it's quite easy at the moment, yeah.
01:48He's a happy little soul.
01:50Eligible families can still enrol in the program.
01:53250 of our targets of 1,000 families have enrolled in our study,
01:58so it's well underway now.
02:00Progressing medical science for a healthier future.
02:03Wee!
02:05Wee!
02:07Wee!
02:08Wee!