The Medical Services Advisory Committee (MSAC) has published its advice on newborn bloodspot screening (NBS) for mucopolysaccharidosis type I (MPS I), mucopolysaccharidosis type II (MPS II) and Pompe disease.
MSAC uses a health technology assessment framework to assess applications for the public funding of health services and technologies. Their assessment process includes consultation.
After undergoing comprehensive assessments, MSAC:
- Supported adding MPS I and MPS II to Australia’s NBS programs
- Did not support adding Pompe disease at this time
Public Summary Documents Detailing the Medical Services Advisory Committee’s Advice
You can read the full Public Summary Documents that explain MSAC’s advice, which include a Consumer Summary, at the Department of Health, Disability and Aged Care’s website via the below links.
Next Steps Following the Medical Services Advisory Committee’s Advice
For MPS I and MPS II, in line with the NBS decision-making pathway, MSAC’s advice will progress through the pathway for a final decision regarding the above conditions, which will be made by Australia’s health ministers. The latest updates are being published on the NBS web page at the Department of Health, Disability and Aged Care’s website.
For Pompe disease, in the Consumer Summary, “MSAC advised that newborn screening for infantile-onset GSD II [Pompe disease] could be re-considered when a test is available that is able to accurately predict the type of GSD II.”
Rare Voices Australia’s Advocacy on Behalf of Australians Living with a Rare Disease
As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) will continue to work with the Commonwealth and state governments with a focus on achieving a nationally equitable, consistent and sustainable NBS Program.
We recognise the individuals, rare disease organisation leaders and their communities who have been engaged in the NBS and MSAC process for these conditions for their tireless efforts and ongoing commitment. RVA understands that this decision 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.
RVA calls on the Department of Health, Disability and Aged Care to work with consumers and rare disease organisation leaders to:
- Explore next steps with the Pompe community to urgently identify pathways to timely and accurate diagnosis
- Ensure transparency for MPS I and MPS II communities as the NBS decision-making pathway continues
Timely and Accurate Diagnosis and the National Strategic Action Plan for Rare Diseases
As outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), timely and accurate diagnosis of a rare disease is critical. While NBS is a critical program, the Action Plan highlights the importance of Australians having “…equitable access to a range of diagnostic tools and tests, providing the best chance of early and accurate diagnosis.” (Action 2.2.1)
RVA continues to advocate for a greater understanding of the various community and consumer views on ethical considerations for a range of screening and diagnostic tests, including NBS.
