Queensland Expands Genetic Testing for Newborns

Minister for Health, Mental Health and Ambulance Services and Minister for Women The Honourable Shannon Fentiman
  • The Newborn Bloodspot Screening (NBS) program has been expanded to include two serious genetic conditions – Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiency (SCID).
  • The Queensland Government is investing $1.25 million each year to maintain the screening program.
  • Screening will continue to be made available, for free, to every Queensland parent.

The Queensland Government has expanded the Newborn Bloodspot Screening (NBS) program to include Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiency (SCID).

The introduction of SMA and SCID into the NBS in Queensland will improve outcomes for patients if diagnosed and treated early.

The new testing capabilities will begin in Queensland next week and will be available for use on all heel prick samples.

Quotes attributable to the Minister for Mental Health, Health and Ambulance Services, Shannon Fentiman:

“In 2022, the Palaszczuk Government decided to expand the newborn screening program to include genetic testing of SMA and SCID.

“I am proud to announce new testing capabilities will be introduced to the public health system in the state as of next week, and will be available on all heel prick samples for our littlest, and sometimes most vulnerable, Queenslanders.

“Our government invested $1.6 million to expand the screening program in 2022 which was used to purchase new genetic testing equipment as well as upskill pathology staff ready for the expansion to commence.

“A further $1.25 million every year will be invested into the program, which will test tens of thousands of Queensland babies born each for SMA and SCID.

“Importantly, the NBS, which now includes screening for SMA and SCID, will continue to be made available for free, to every Queensland baby.

“As we know, babies born with these diseases have a very poor prognosis, however with early intervention as well as effective treatment, their lives can drastically change for the better.

“In fact, if babies diagnosed with SCID receive early intervention and treatment, the disease can be cured and the child can live a normal life.

“Current research shows that children with diagnosis of SMA who receive early treatment will result in normal growth and development for the child.”

Additional information:

Since the 1960s, all babies born in Australia have been offered testing under the Newborn Bloodspot Screening (NBS) program.

In Queensland, the program was implemented in 1968 and since then has screened nearly every baby born in the state.

There are approximately 66,000 babies tested each year in Queensland as part of the existing NBS program.

Spinal Muscular atrophy (SMA)

SMA is a condition that affects the muscles involved in movement, such as swallowing, breathing and general movement. The muscles progressively weaken and become wasted over time.

Severe combined immunodeficiency (SCID)

SCID is a very rare genetic and potentially life-threatening disorder that affects the immune system, increasing a child’s risk to certain infections. If undiagnosed, SCID is almost universally fatal in the first 12 months of life.

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