Applications

1810 – Genomic testing for the diagnosis of primary immunodeficiency (PID)

Find out about the service or technology in this application and the medical condition it addresses. You can also view the application documents, the deadlines for providing consultation input and the outcome of the application when the MSAC process is complete.

  • Status Pre-assessment
  • Type New application
  • Pre-PASC consultation Open
  • Pre-MSAC consultation -
  • Outcome Pending

Application details

Applicant

The Royal College of Pathologists of Australasia

Reason for application

New Medicare Benefits Schedule item.

Service or technology in this application

Genetic testing is essential for the diagnosis and management of patients with suspected primary immunodeficiencies (PIDs), as identifying the molecular variation is necessary for diagnostic confirmation. Knowing the specific genetic cause of PID helps guide prognosis and informs clinical decision-making around appropriate treatments. While targeted gene panels may be used, massively parallel exome sequencing or whole genome sequencing (WGS) are more commonly used to detect variants in genes associated with PIDs. 

Type: Investigative

Medical condition this application addresses

PIDs, also known as inborn errors of immunity (IEI), are genetic disorders that weaken the immune system. Caused by variants in over 450 genes, PIDs can be inherited and are more commonly diagnosed in children. PIDs result from genetic variations that affect either the adaptive immune system (B and T lymphocytes) or the innate immune system (phagocytes, complement proteins, cytokines, and their receptors), leading to increased risk of bacterial, viral, fungal, and opportunistic infections, as well as autoimmune conditions and some cancers.

Consultation survey and deadlines

The following consultation deadlines apply:

  • Pre-PASC consultation deadline: Friday 7 November 2025 11:59 pm AEDT  
  • Pre-MSAC consultation deadline: 

Input received after the pre-PASC deadline will be considered by MSAC.

For other ways to provide input, see how to have your say.

We welcome input from everyone. We are especially keen to hear from those with lived experience of the health condition, service or technology the applications are addressing.

Find out more about consultation.

Meetings to consider this application

This application will be considered at the following meetings:

  • PASC meeting: 11 to 12 December 2025
  • ESC meeting:
  • MSAC meeting: 

Find out more about our meetings.

Outcome details

The outcome of this application is pending.

More information

Find out more about: