Applications

1671 – Targeted carrier testing for severe monogenic conditions

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 Complete
  • Type New application
  • Pre-PASC consultation Closed
  • Pre-MSAC consultation Closed
  • Outcome Supported

Application details

Reason for application

New MBS item.

Service or technology in this application

Testing of asymptomatic individuals of reproductive age, pregnant females (as well as their male reproductive partner) for the presence of a pathogenic heterozygous variant(s) for a clinically significant monogenic disorder in order to ascertain their genetic carrier status, in a panel of genes that would include testing for cystic fibrosis, spinal muscular atrophy and fragile X syndrome.

Type: Investigative

Medical condition this application addresses

Tested individuals must have a >10% a priori aggregate personal risk of being a heterozygous genetic carrier of a clinically significant disorder associated with pathogenic or likely pathogenic variants of the genes in the testing panel. The genes included in the panel will depend on the patient’s family history and ethnic heritage/risk, drawn from published, publicly accessible lists of pathogenic genetic variants and associated disorders. Additionally it is requested that cascade testing should be offered to first-degree biological relatives of those found to be a carrier of a recessive pathogenic variant.

Consultation survey and deadlines

  • PASC consultation: Closed
  • MSAC consultation: Closed Friday 10 June 2022

Meetings to consider this application

  • PASC meeting: 12 to 13 August 2021
  • ESC meeting: 9 to 10 June 2022
  • MSAC meeting: 28 to 29 July 2022