Australian State Queensland to Screen Newborns for SMA, SCID

Ana de Barros, PhD avatar

by Ana de Barros, PhD |

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The Australian state of Queensland is expanding its newborn screening program to include the genetic conditions spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID).

New testing capabilities are expected to be in place by next May, with the free screening to begin soon after. Queensland, Australia’s second-largest state, is investing AU$1.6 million (about $1.1 million) on screening expansion and will spend AU$1.25 million (about $800,000) annually to maintain it.

“This funding will be used to purchase new genetic testing equipment, upskill pathology staff, and test tens of thousands of Queensland babies born each year for SMA and SCID,” Yvette D’Ath, Queensland’s minister for health and ambulance services, said in a press release. “Right now, our equipment is unable to test for genetic conditions like SMA and SCID.”

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SMA is marked by progressive muscle weakness and atrophy, chiefly affecting motor function, but frequently causing speaking, swallowing, and breathing issues, in addition to other symptoms.

Newborn screening is conducted soon after a child is born, testing for mutations that are known to cause rare and serious disorders. The procedure can identify infants with SMA before symptoms show up, when beginning treatment has been shown to result in markedly better outcomes.

The test usually assesses blood spots collected from a heel prick. Newborns who, through testing, are suspected of having a specific condition get diagnostic testing and follow-up care.

Three disease-modifying therapies for SMA — Biogen’s Spinraza (nusinersen), Novartis’ Zolgensma, and Roche’s Evrysdi (risdiplam) — are available in several countries, including Australia.

SCID is a group of rare disorders caused by various gene mutations involved in the development and function of infection-fighting immune cells.

“Babies who are born with these diseases have a very poor prognosis, but early intervention and treatment can make all the difference to their lives,” D’Ath said. “Importantly, screening will continue to be made available for free to every Queensland parent.”

The screening expansion aligns with a AU$38 million (about $26 million) commitment by the Albanese government, which is Australia’s federal executive government, to expand and standardize newborn screening across the country to about 80 conditions. Currently, Queensland newborns are screened for 25 disorders.

“The investment we are announcing today will put Queensland in the best position to take advantage of that federal funding,” D’Ath said, thanking those who advocated for SMA and SCID testing. “The passion and commitment of advocates has not gone unnoticed, and future parents will be in their debt for the work they have done.”