On 19 June 2026, Australian Health Ministers met to discuss several health system reform priorities. As published in the follow-up Communique, Health Ministers agreed to add mucopolysaccharidosis type 1 (MPS I) and type 2 (MPS II) to Australia’s newborn bloodspot screening (NSB) programs. As stated in the Communique:
“This decision was based on the Medical Services Advisory Committee’s (MSAC) advice to screen both MPS I and MPS II. States and territories will work collaboratively with the Commonwealth to ensure NBS programs are ready for implementation.”
Rare Voices Australia (RVA) acknowledges those in the MPS community who have engaged in the NBS and MSAC processes for their advocacy.
Newborn Bloodspot Screening for Pompe Disease
At the meeting, Health Ministers supported MSAC’s recommendation not to introduce NBS for Pompe disease at this time. As stated in the Communique:
“This was because MSAC advised the current screening tests and diagnostic tests (including genetic tests) will mostly identify babies who may develop the late-onset form of Pompe disease that shows symptoms in adulthood. MSAC considered there to be a greater potential for harm than benefit from NBS for these children. The Department of Health, Disability and Ageing will continue to monitor emerging evidence relating to newborn screening for Pompe disease and reconsider its decision if appropriate.”
RVA acknowledges those who have engaged in the NBS and MSAC processes for these conditions for their efforts and ongoing commitment. We understand that this outcome is extremely disappointing for RVA Partner, the Australian Pompe Association, which has long been advocating for Pompe’s inclusion on the NBS. We acknowledge the ongoing lack of diagnostic pathways for Pompe disease and their impacts on those living with Pompe disease and their families.
As the national peak body for Australians living with a rare disease, RVA will continue to work with the Commonwealth and state governments with a focus on achieving a nationally equitable, consistent and sustainable NBS Program.
For the latest updates regarding target conditions screened in Australia’s NBS Program, visit the Department of Health, Disability and Ageing’s website.
