To better understand Australian newborn bloodspot screening (NBS) programs, the Department of Health and Aged Care commissioned a readiness assessment led by an external consultant. As published in the Newborn bloodspot screening expansion – Readiness assessment executive summary (the executive summary), “The aim of the readiness assessment was to understand how NBS programs operate nationally and the factors critical to achieving national consistency and expanding the number of conditions screened whilst maintaining quality and safety… The readiness assessment also sought to gain a detailed understanding of the process and/or implementation steps in each state or territory for adding new conditions.”
As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the release of the executive summary. Alongside other stakeholders in the rare disease sector, including many of our RVA Partner groups/organisations, RVA has been advocating for increased sustainability, equity, transparency and consistency of screening for NBS for several years. We have also acknowledged the complexity and need for careful consideration of NBS program expansion to ensure the best outcomes for Australians living with a rare disease.
In May 2024, RVA welcomed the Australian Government’s investment of $25 million to support the continued delivery of NBS expansion and consistency of conditions. As outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases, early diagnosis is critical in rare disease for better outcomes as it enables the best immediate treatment and care. For the first time in 60 years, Australia has an agreed national list of NBS conditions and there is specific funding to achieve consistency across the country, cementing Australia as a world leader in NBS.
RVA is pleased to see that the executive summary states that “NBS programs can achieve consistency in conditions screened within current resources.” It goes on to state:
“Readiness to expand NBS programs is inherently more complex than readiness to achieve consistency across each NBS program. The support required to achieve and maintain readiness for expansion varies between jurisdictions and also differs between condition types, acknowledging that some condition types (e.g. haemoglobin disorders) will be entirely new to the Australian screening landscape.”
The executive summary also highlights three domains requiring the most support to achieve expansion:
- Laboratory capacity and capability
- Clinical capacity
- Data and information systems
Read the executive summary in full on the newborn bloodspot screening page on the Department of Health and Aged Care’s website.
RVA will continue working with all Australian governments to assist with NBS expansion as the national peak body for Australians living with a rare disease.
