
Newborn bloodspot screening (NBS) is an important program that supports the earliest possible diagnosis of some rare diseases. Rare Voices Australia (RVA), alongside other rare disease stakeholders, including RVA Partner groups/organisations, have called for increased equity, timeliness and consistency of screening for several years. While there is more work to do, the Commonwealth’s investment and State Governments’ commitment to a nationally consistent NBS Program has resulted in important progress being made (scroll down to the bottom of the article for more background information).
Newborn Bloodspot Screening Updates: July 2024
- Five conditions were identified and considered for technical advice: Niemann-Pick disease, Batten disease (CLN2), Fabry disease, Krabbe disease and MPS III (Sanfilippo syndrome)
- Based on the technical advice provided by the NBS Program Management Committee (PMC), state Health Ministers have decided that the five conditions listed above will not be referred to the Medical Services Advisory Committee (MSAC) for health technology assessment
As the national peak body for Australians living with a rare disease, RVA has engaged with the Australian Government to reiterate the importance of transparent and publicly available information regarding how technical advice is developed and the basis for the recommendations provided. This information equips rare disease groups/organisations with important information so that they are informed and can consider the best next steps, including evidence gathering or alternative pathways for earliest possible diagnosis.
RVA has also repeatedly raised the importance of consumer input into the development of technical advice given this is a critical part of the NBS decision making pathway outlined by the Commonwealth. Additionally, RVA has been engaging with the RVA Partner groups/organisations (rare disease groups/organisations) impacted by the recent technical advice given regarding next steps and will continue doing so. RVA provides customised mentorship and education to our RVA Partner groups/organisations. Learn more on our Become an RVA Partner web page.
Additional Background Information: Newborn Bloodspot Screening
Australian babies have been screened using NBS since the 1960s and while there is more work to do, several promising developments have been progressed in recent times, including the Australian Government’s investment of $25 million in the 2024-25 Federal Budget to support the continued delivery of NBS expansion and consistency of conditions. Additionally, 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. Learn more about Australia’s NBS program on the Department of Health and Aged Care’s website.