Red tape stalls Labor’s newborn promise for genetic testing

Newborns could be waiting years before they are screened for 80 life altering diseases as bureaucracy gets in the way of delivering Labor’s election promise.

During the 2022 election campaign, now Health Minister Mark Butler tweeted a News Corp story about Nate’s tragic death, promising Labor would fix the system.

Exclusive: An election promise to screen babies for 80 serious health conditions at birth has stalled, with just one new disease added to the testing list since Labor was elected.

Jenna Primmer, who lost her two year old son Nate to a rare disease that was not picked up early enough to save his life, is pleading with the government to act faster as up to five babies a week miss out on important diagnoses.

“We need some action because the longer it takes, the more children there are not getting diagnosed, and they are passing away from something that can be treated,” she said.

“Please don’t forget kids like Nate.”

Nate’s death could have been prevented if he had been given a simple $10 test at birth and had access to a lifesaving medication for his condition, Pompe disease.

Nate’s death could have been prevented if he had been given a simple $10 test at birth and had access to a lifesaving medication for his condition Pompe disease. Picture: supplied

Thirty eight USA states have approved newborn screening for Pompe, while Taiwan has been screening for Pompe since 2005.

During the 2022 election campaign, now Health Minister Mark Butler tweeted a News Corp story about Nate’s tragic death, promising Labor would fix the system.

The Albanese Government went on to allocate more than $38 million to improve newborn testing in last year’s October budget.

Yet 12 months after Mr Butler’s election pledge, newborns are only being tested for 28 conditions in NSW, as few as 25 in Victoria and 26 in Qld, NT, SA and Tasmania.

Only one new condition has been added to the list since the election and only in some states — and there is still no testing for Pompe’s disease.

In June 2022, Health Minster Mark Butler announced Severe Combined Immunodeficiency (SCID) had been recommended for inclusion in state and territory newborn bloodspot screening programs.

Health and Aged Care Minister Mark Butler. Picture: Martin Ollman/Getty

SCID is fatal in the first two years of life without early and definitive intervention which is enabled by newborn screening.

NSW and the ACT will begin testing for SCID in July 2022, Queensland will begin testing in May 2023 and Victoria is set to add tests for spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID) and congenital adrenal hyperplasia (CAH) in coming years.

The government has confirmed disease groups will have to apply to the Medicare Services Advisory Committee (MSAC) to have each individual condition assessed for inclusion in the newborn screening test.

It normally takes MSAC between 12-18 months to assess applications and even if MSAC approves a condition for testing it will be up to each individual state to adopt it.

A simple test at birth could have led to Nate having lifesaving medication for his condition.

Jenna Primmer with Nate whose death from Pompe’s Disease could have been prevented.

Felicity McNeil, a former health department bureaucrat turned spokeswoman for Better Access Australia, which has been campaigning for change, said the government had “over-promised and under delivered”.

“We will be waiting until 2050 to deliver this election commitment of 80 diseases,” she said.

“Every day that the expansion of the newborn screening program to 80 diseases is delayed is an inevitable and preventable loss of little lives life or irreversible damage to a babies’ health.”

Mr Butler said he was “absolutely committed” to implementing world’s best practice for newborn screening and said he had provided funding to the states to make it happen.

“Conditions will be identified through a systematic and open process, reviewing literature, international programs, emerging technologies and treatment,” he said.