Babies will be screened for more rare health conditions, paving the way for early diagnosis as the federal government expands its national program.
The number of genetic conditions tested through newborn blood-spot screening programs will increase to 50 and a more streamlined system will be implemented as part of a $39 million overhaul.
Among the rare conditions to be included are Pompe disease, Batten's disease, Sanfilippo syndrome and GAMT deficiency.
Health Minister Mark Butler on Wednesday said Australia was seeking to screen 80 conditions, which is world best practice.
"We want parents to be confident that no matter which hospital their child is born, their baby will be appropriately and consistently screened for rare conditions, that the screening result is accurate and that they will be connected to support and services wherever they live," Mr Butler said.
The changes mean clinicians, patient groups and other community members can submit new conditions for consideration.
Once a condition is identified, the streamlined pathway should clinically assess and deliver a screening decision within two years.
It follows an election promise from Prime Minister Anthony Albanese, who last year said the system only tests for 25 conditions and there was no clear path to screening between states.
It previously took five to 14 years for new conditions to be included for screening and there was no guarantee what was screened in one state would be screened in others.
Rare Voices Australia chief executive Nicole Miller hailed the expansion as a milestone.
"A nationally consistent screening program and a clear pathway for conditions to be included, will support early diagnosis of a number of rare diseases," Ms Miller said.
"Early diagnosis is critical to Australian parents and families as it enables the best immediate treatment and care."
Newborn screening programs are made up of two types of conditions, according to international best practice.
This includes target conditions, which provide more reliable screening, and non-target conditions which are harder to detect.
Childhood Dementia Initiative chief executive Megan Maack said the streamlined system would change lives.
"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," Ms Maack said.
