Conditions screened in Australia's NBS programs
Newborn bloodspot screening tests for a number of conditions. For more information, see the conditions screened by each state and territory.
Each state and territory decides which conditions to screen, following a health technology assessment facilitated by the Australian Government.
We are working with states and territories to expand Australia's NBS programs. To ensure that the expansion delivers benefits to all families with newborns, we are consulting with:
- stakeholders
- medical experts
- state and territory laboratories
- state and territory health departments.
Further details, including how to get involved, will be shared on this page.
Outcomes of conditions assessed for screening
Screening is not just a lab test. For all screening programs, including newborn bloodspot screening, we carefully consider the available evidence to:
- ensure positive health outcomes
- reduce unintended harm in diagnosis
- ensure appropriate follow up-care and support for those who received a confirmed diagnosis.
With the support of states, territories, and relevant health experts, we assess new conditions for inclusion in Australia’s NBS programs. The following tables outline the outcomes of these assessment processes.
Conditions recently assessed
Condition | Date recommended | Jurisdictions planning implementation | Jurisdictions currently offering screening |
---|---|---|---|
Severe Combined Immunodeficiency (SCID) |
2022 |
Victoria planning pilot in 2023. Queensland has announced implementation in 2023. |
New South Wales, Australian Capital Territory |
Spinal Muscular Atrophy (SMA) | 2020 |
Victoria planning pilot in 2023. Queensland has announced implementation in 2023. |
New South Wales, Australian Capital Territory, Western Australia (pilot implementation program) |
Congenital adrenal hyperplasia (CAH) |
2018 |
|
All jurisdictions |
Conditions currently being assessed
Condition | Status of review | Next steps |
---|---|---|
X-Linked adrenoleukodystrophy |
Due for completion in 2023. | |
Sickle Cell Disease |
Undergoing health technology assessment. | Due for completion in 2023. |
National policy framework
This framework provides information for experts involved in newborn bloodspot screening, and families, about how the programs operate. It also includes the screening criteria that guide the assessment of new conditions for inclusion in Australia’s NBS programs.
Please note: the decision-making pathway outlined in the policy framework (Policy Area 5, Part 1) is no longer in use because the committees referenced in the assessment process no longer exist. The process currently uses the expertise of the Medical Services Advisory Committee. This pathway is under review. However, the decision-making criteria (Policy Area 5, Part II) continues to guide consideration of the benefits and harms of newborn screening.
We will review this framework as part of our work to expand newborn bloodspot screening programs.