As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the recent announcements from the Department of Health and Aged Care regarding conditions to be added to, or evaluated for, newborn bloodspot screening (NBS) panels. We acknowledge the RVA Partner groups/organisations and their communities that have persistently pursued these outcomes.
The Medical Services Advisory Committee Recommends Screening for X-linked Adrenoleukodystrophy
On 12 October, the Public Summary Document for the Medical Services Advisory Committee’s (MSAC) consideration of X-linked adrenoleukodystrophy (X-ALD) for NBS was released with MSAC recommending that state NBS programs screen all babies for X-ALD. RVA congratulates the X-ALD community for their persistence in continuing to advocate for this outcome. A funded, transparent and sustainable assessment process of conditions for NBS has been a key driver for RVA in our ongoing advocacy for improvements to newborn screening.
The Department of Health and Aged Care Announces Additional Conditions to Be Referred to the Medical Services Advisory Committee for Evaluation
The Department of Health and Aged Care has announced that Pompe disease, Mucopolysaccharidosis type I (MPSI) and Mucopolysaccharidosis type II (MPSII) have been referred to MSAC for assessment following technical advice. RVA will provide information when opportunities for consumer comments can be provided on these assessments. Congratulations to our RVA Partner groups/organisations that have worked tirelessly towards this result.
If you have any specific questions about Australia’s NBS programs, you can email: NBS@health.gov.au.