Today (28 June) is International Neonatal Screening Day, a day that celebrates the birthday of Dr Robert Guthrie, the American microbiologist who introduced the first dried bloodspot testing for rare disease. Australian babies have been screened using Dr Guthrie’s method since the 1960s.
Newborn Bloodspot Screening (NBS) is an important program that supports the earliest possible diagnosis of some rare diseases. As outlined in the National Strategic Action Plan for Rare Diseases, early diagnosis is critical for better outcomes as it enables the best immediate treatment and care.
In a Media Statement released by the Hon Mark Butler MP, Minister for Health and Aged Care, to coincide with International Neonatal Screening Day, the Government stated:
“In a major milestone, Severe Combined Immunodeficiency (SCID) has been recommended for inclusion in state and territory newborn bloodspot screening programs. SCID is a serious, life-limiting condition and early diagnosis by newborn screening allows for treatment to be undertaken before infections cause complications.”
RVA welcomes this positive recommendation and the announcement from the New South Wales Government (NSW) that all NSW and Australian Capital Territory (ACT) babies will be offered testing for Spinal Muscular Atrophy (SMA) and SCID, thanks to a $1.3 million investment boost per year. These tests will be offered to parents of all new babies in NSW and the ACT from 1 July 2022 within 48-72 hours of their baby’s birth. Read the full Media Statement.
On 17 June 2022, RVA welcomed the Queensland Government’s announcement that the state will expand its newborn screening program to include SMA and SCID. See RVA’s full article.
RVA thanks both state governments for their ongoing engagement with RVA regarding NBS. We will continue to work with the Commonwealth and state governments with a focus on achieving a nationally equitable, consistent and sustainable NBS Program.
These state government announcements follow the Australian Labor Party’s (ALP) $38.4 million commitment to NBS ahead of the Federal Election. RVA is encouraged by the discussions we’ve had with the ALP since they formed government regarding this investment, and the challenges and gaps with NBS. The Government’s International Neonatal Screening Day message also stated:
“Over the coming months, newborn bloodspot screening programs will be reviewed and reformed. The Department of Health and Aged Care has already started this work in collaboration with key partners. The Department will be consulting widely and working closely with state and territory governments to ensure program expansion is implemented effectively. More details on this consultation process will be available soon.”