June 2023 The Department of Health and Aged Care has updated its website with recent progress and plans for newborn screening (NBS) expansion.

In the update, the government said that 5 conditions or groups of conditions that are currently inconsistently screened now have agreement from all testing sites across Australia for implementation. One of these conditions can cause childhood dementia.

This will end the postcode lottery in newborn screening and bring the number of conditions consistently screened to 32 conditions.

Two additional tests for sickle cell disease and beta-thalassemia (detected in the same test), and x-linked adrenoleukodystrophy (a condition that causes childhood dementia) are currently being considered by the Medical Services Advisory Committee (MSAC) and are tabled for the MSAC Meeting on 27-28 July 2023.

The Department also listed 15 conditions that they are looking at progressing towards addition to the NBS program. Eight of them are childhood dementia conditions. This does not mean that they will definitely be added to the NBS program, or even that they will go to MSAC for assessment. The government has indicated that they are gathering 'technical advice' on which of these warrant consideration by MSAC. 

“Given that only a handful of conditions have been added to our NBS program in recent decades, this is good progress. We hope that these conditions will progress through the process swiftly and screening will be implemented without delay” said Dr Kris Elvidge, Head of Research at Childhood Dementia Initiative.

“It is a tragedy for any child to miss out on an effective treatment because they were diagnosed too late," added Megan Maack, CEO, Childhood Dementia Initiative.

“As a mother who has experienced this tragedy first-hand and as CEO of Childhood Dementia Initiative, I welcome a faster and more transparent process that has the potential to improve diagnosis and treatment of the childhood dementia disorders for generations to come."

“We keenly await the outcome of the childhood dementia disorders currently under consideration for inclusion, which, if implemented, will see babies gain access to life saving treatment."

More information is available in Childhood Dementia Initiative’s Newborn Screening Position Paper. For perspectives on newborn screening from around the world, including childhood dementia, read Rare Revolution Magazine’s special Newborn Screening.

Additional information

Newborn screening

Newborn screening (NBS) involves blood spots being collected from a heel prick around 48 hours after a baby is born. This simple test identifies babies at risk of becoming seriously ill from a rare condition. Screening aims to improve the health of these babies by allowing early intervention. Australia currently consistently screens for 27 rare conditions and more than 99.9% of parents currently opt-in to the test.

What is MSAC?

MSAC appraises new medical services proposed for public funding, and provides advice to the government on whether a new medical service should be publicly funded. It assesses safety, clinical effectiveness and cost-effectiveness of the service. If MSAC recommends a new medical service should be funded, it is then up to the Federal Health Minister to make the final decision.The states and territories will then make decisions regarding implementation.