Newborn Bloodspot Screening Update: Western Australia


Rare Voices Australia (RVA) welcomes the Western Australian (WA) Government’s commitment to begin the implementation process to add congenital adrenal hyperplasia (CAH) to WA’s Newborn Bloodspot Screening (NBS) Program. Phase one of implementation involves the establishment of the required staffing and equipment, in accordance with the national recommendation endorsed by Australian Governments, to ensure the successful rollout of quality and safe screening of infants for CAH. Today’s announcement is a positive step forward for RVA Partner, Congenital Adrenal Hyperplasia Support Group Australia, and the CAH community. RVA urges the WA Government to prioritise the timely completion of this initial implementation phase so that the screening of babies can commence as soon as possible.

Additionally, the Hon Roger Cook, WA’s Minister for Health, has announced funding for a pilot project that will enable NBS for spinal muscular atrophy (SMA) following preparation of the required equipment, training of staff, development of testing protocols and clinical and care pathways. This announcement is encouraging for RVA Partner, SMA Australia, and the SMA community.  

RVA welcomes both announcements and thanks the WA Government for their ongoing engagement with RVA regarding this issue. NBS is an important and life-changing program that screens for certain rare genetic conditions and metabolic disorders. As outlined in the National Strategic Action Plan for Rare Diseases, early diagnosis enables the best clinical care, treatment options, access to services, peer support, increased reproductive confidence and access to participation in clinical trials.  

As with the Commonwealth and other State Governments, RVA will continue to engage with the WA Government to ensure the increased sustainability, equity and transparency of the NBS Program across Australia.

Click here to read the WA Government’s media release.

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