Newborn bloodspot screening (NBS) tests for a number of conditions, outlined below. We are working with states and territories to expand Australia's NBS programs, and make sure all babies born have access to the same screening.
The tables below contain information on the conditions currently screened across Australia and the implementation status of new conditions. You can also see the status of conditions being considered for screening through the national decision-making pathway. See our fact sheet for more information about the NBS national decision-making pathway.
Target conditions screened in Australia's NBS programs
Target conditions are intentionally screened for in Australia’s NBS programs. There is a specific and reliable test available to detect these conditions, the health outcomes of the condition are well understood and there is an available and effective treatment.
| Condition type | Condition name |
|---|---|
| Endocrine disorders |
|
| Metabolic disorders | Amino acid disorders
|
Fatty acid oxidation disorders
| |
Organic acid disorders
| |
| Other disorders |
|
| * In Victoria, screening has commenced with a statewide pilot. During this implementation phase all babies are screened and abnormal findings are reported and followed up as required. Following completion of the pilot in Victoria, formal screening will continue. | |
Conditions agreed as target and under implementation
Condition
| WA | SA / Tas / NT | Qld / NT | NSW / ACT | Vic | Date agreed by Health Ministers | |
|---|---|---|---|---|---|---|---|
| Metabolic disorders | Tyrosinemia type I* | Yes | Pending | Pending | Yes | Pending | 19 April 2024 |
| GAMT (guanidinoacetate methyltransferase) deficiency* | Pending | Pending | Pending | Pending | Yes | 19 April 2024 | |
| Haemoglobinopathy | Sickle cell disease* | Pending | Pending | Pending | Pending | Pending | 25 September 2024 |
|
Conditions agreed as non-target
Non-target conditions may be incidentally detected when screening for a target condition. Although newborn bloodspot screening is not specifically designed to detect these conditions, it may find babies with a non-target condition who may benefit from early detection. Abnormal findings from newborn bloodspot screening (both target and non-target conditions) are reported and followed up as required.
| Condition | Date agreed by Health Ministers | |
|---|---|---|
| Organic acid disorders | 3-methyl-glutaconic aciduria (3-MGA) | 19 April 2024 |
| 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) | 19 April 2024 | |
| Malonic acidemia | 19 April 2024 | |
| Other metabolic disorders | X-linked agammaglobulinemia (XLA) | 19 April 2024 |
Haemoglobinopathies | Sickle cell trait (carrier) | 25 September 2024 |
| Beta thalassemia* | 25 September 2024 | |
| Other haemoglobinopathies* | 25 September 2024 | |
|
Conditions currently under assessment, not currently screened
The Medical Services Advisory Committee (MSAC) provides independent advice on whether a condition is suitable to add to Australia’s NBS programs using the best available evidence and in line with MSAC's terms of reference.
This advice will be provided to all state and territory governments and Health Ministers, to inform a decision regarding implementing a condition/s in NBS programs. This decision is informed by MSAC’s advice and underpinned by the Newborn Bloodspot Screening Policy Framework.
| Condition | Status |
|---|---|
| X-linked adrenoleukodystrophy (X-ALD) | MSAC advice available. Outcome Next steps This advice has been provided to governments to inform a decision regarding implementing screening for X-ALD. |
| Pompe disease | Referred to the MSAC health technology assessment process. For further information, see MSAC application 1774. Consultation MSAC consultation input must be received no later than 14 February 2025. For further information please refer to MSAC Consultation Process |
| Mucopolysaccharidosis type I (MPS I) | Referred to the MSAC health technology assessment process. For further information, see MSAC application 1775. Next steps MPS I will be considered by MSAC at its November 2024 meeting. |
| Mucopolysaccharidosis type II (MPS II) | Referred to the MSAC health technology assessment process. For further information, see MSAC application 1776. Consultation MSAC consultation input must be received no later than 14 February 2025. For further information please refer to MSAC Consultation Process. |
Conditions considered and agreed not to progress
Through the decision-making pathway, Health Ministers have considered advice on the conditions in the table below. They agreed that the conditions should not proceed to the Medical Services Advisory Committee (MSAC) for health technology assessment, at this time. For more information on the pathway see the NBS decision-making pathway fact sheet.
For a condition to progress to MSAC for assessment, it needs to align with the criteria in Australia’s NBS National Policy Framework. The National Policy Framework criteria include:
- The condition is serious and benefits from early diagnosis in the newborn period.
- There is a suitable test available, which is socially and ethically acceptable.
- There is an acceptable and effective intervention or treatment available.
The conditions in the table below were assessed as not having sufficient alignment with the criteria within the NBS National Policy Framework to proceed to MSAC at this time.
These conditions, listed below, will be placed on a registry and reviewed as part of the regular NBS condition identification process. This includes monitoring developments in treatments, technology and international screening programs.
| Condition type | Condition name | Date considered by Health Ministers |
|---|---|---|
| Lysosomal storage disorders | Acid sphingomyelinase deficiency (ASMD) (Niemann-Pick disease types A and B) | 5 June 2024 |
| CLN2 (neuronal ceroid lipofuscinosis 2) – Batten disease | 5 June 2024 | |
| Fabry disease | 5 June 2024 | |
| Krabbe disease | 5 June 2024 | |
| Sanfilippo syndrome (Mucopolysaccharidosis type III (MPS III)) | 5 June 2024 |
Conditions identified for NBS technical advice
| Condition type | Condition name |
|---|---|
| Lysosomal storage disorders |
|
Metabolic disorders
| Amino Acid disorders
|
Fatty acid oxidation disorders
| |
Organic acid disorders
| |
Other metabolic disorders
| |
| Other disorders |
|
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.
Newborn Bloodspot Screening – National Policy Framework
Contact
