Free genetic testing announced for Qld newborns

Free genetic testing for all newborns starting in Queensland hospitals will detect life-threatening health conditions from as young as one day old.

Louise and Timothy Grant with Bridget, 4, and Isabelle, 2. Picture: David Clark

Free genetic testing for all newborns starting in Queensland hospitals will detect life-threatening health conditions from as young as one day old, and has been hailed as a “huge leap forward” by the dedicated families that fought for it.

The Newborn Bloodspot Screening program has been expanded to include two serious genetic conditions – spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID).

If babies diagnosed with SCID receive early intervention and treatment, the disease can be cured and the child can live a normal life and babies with SMA who receive early treatment can expect normal growth and development.

Kate Gough’s daughter Oakley was born with SMA but with no heel prick available in Queensland at the time of her birth in 2020 her treatment didn’t start until it was too late.

“Today is a huge leap forward for Queensland families, and of course the SMA community,” she said.

“I can’t explain the devastation that we felt when we learned that our daughters prognosis could have been completely different if only she’d been diagnosed at birth, like little ones in New South Wales and the ACT.

Grant Gough with daughter Oakley. Picture: David Clark

“Future families will not have to go through the heartbreak that we did, because they will get the chance that our loved ones missed out on and that’s really exciting.”

Isabelle Grant was born with SCID but it took for her to become critically ill before she was diagnosed.

Her mother Louise said she was grateful that the government was now recognising the importance of screening for these two conditions.

“It means that all Queensland babies will have the chance to be screened and not only will they survive, but they will avoid a life with permanent disabilities caused by late diagnosis.

Health Minister Shannon Fentiman said the government committed to the enhanced screening last year but it took time for pathology services to be updated.

“We know it can be devastating for families who get this diagnosis and that if we can screen earlier and get early intervention and treatment, we can radically change the outcome for these little children,” she said.

Ms Fentiman also thanked the Gough and Grant families as it “really would not have happened without their amazing advocacy”.