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Published on: March 13, 2015
Newborn bloodspot screening policy framework for Australia
Peter O'Leary1, Susannah Maxwell1
1Research and Graduate Studies, Faculty of Health Sciences, Curtin University, Bentley, WA, Australia.
Insights
Newborn bloodspot screening (NBS) policies need a formal national framework in Australia to coordinate services for children. This ensures timely intervention for rare genetic and non-genetic conditions, preventing irreversible disabilities.
Area of Science:
- Public Health
- Genetics
- Healthcare Policy
Background:
- Newborn bloodspot screening (NBS) identifies rare genetic and non-genetic conditions in infants shortly after birth.
- Early detection through NBS enables prompt therapies, preventing severe, irreversible disabilities.
Purpose of the Study:
- To examine international and Australian government initiatives for expanding NBS programs.
- To propose policy recommendations for a national NBS governance framework in Australia.
Main Methods:
- Review of published public policies and relevant literature.
- Formulation of recommendations based on clinical, social, legal, and ethical principles.
Main Results:
- Australian policymakers have been slow to create a coordinated NBS plan.
- Key reforms include separating policy and operations, and establishing multidisciplinary oversight.
Conclusions:
- A formal national policy framework is essential for coordinating NBS services in Australia.
- Such a framework will ensure NBS programs adapt to the evolving needs of Australian children and families.
Background:
The aim of newborn bloodspot screening (NBS) is to identify rare genetic and non-genetic conditions in children soon after birth in order to commence therapies that prevent the development of progressive, serious, and irreversible disabilities. Universal NBS programmes have been implemented in most countries, with minor adaptations to target conditions most relevant to the local healthcare environment.
Aims:
In this article, we describe the initiatives of international and Australian governments to develop policies to address the expansion of NBS in their healthcare systems.
Methods:
We have reviewed published public policies and literature to formulate recommendations based on clinical, social, legal, and ethical principles to inform a national governance and policy framework for Australia.
Results:
Australian policy makers have been slow to develop a coordinated plan. While the experience from other governments can guide our national policy, there are specific areas that require further consideration by Australian health experts. Key reforms involve the separation of policy and operational activities, multidisciplinary decision-making and oversight by the Australian Health Ministers' Advisory Council for policy direction.
Conclusion:
A formal national policy framework will guide the coordination of NBS services that can adapt to the needs of Australian children and families.

