News & Resources

Genomic testing and diagnosis is a fast moving field so, as an organisation, we are committed to finding and sharing new developments and genetic breakthroughs with you. Please check this page regularly for updates and news.

Genetic Carrier Screening – Now on the MBS!

The Federal Government added reproductive carrier testing for three conditions – cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) to the Medicare Benefit Schedule in November 2023.

This was very welcome news, as it will benefit many Australian families, providing more options for couples on their reproductive journey and removing the health inequity of having to pay for testing.

The item number 73451 covers females who are planning to have a baby or who are pregnant to identify carrier status of CF, SMA or FXS, for the purpose of determining reproductive risk.

The item number 73452 covers testing of either CF or SMA in the male reproductive partner of a carrier female, for the purpose of determining the couple's reproductive risk.

CF, SMA and FXS are the most common inheritable genetic disorders with substantially reduced life expectancy in the Australian population. When considered together (FXS, CF and SMA), one in 20 women will be carriers of at least one of the condition. Put together, the affected pregnancy rate of these three conditions is the equivalent to the population risk of a Down syndrome pregnancy.

Latest MBS Genetic Updates

Updated item 73295 – July 2024 – additional indications for testing BRCA1 or BRCA2 pathogenic variants to determine eligibility for PARP inhibitors under the PBS. The new indications are for early breast cancer – triple negative; and hormone receptor positive, HER2-negative where there is at least one high-risk characteristic.

New Item 73448 – November 2023 – characterisation of variants in a panel of at least 25 genes using DNA, to determine the diagnosis, prognosis and/or management of a patient with a suspected malignancy of lymphoid origin.

New Item 73447 – November 2023 – characterisation of variants in a panel of at least 25 genes using DNA, to determine the diagnosis, prognosis and/or management of a patient with a suspected malignancy of myeloid origin.

New Item 73446 – November 2023 – characterisation of variants in a panel of at least 25 genes using DNA and RNA, to determine the diagnosis, prognosis and/or management of a patient with a suspected malignancy of lymphoid origin.

New Item 73445 – November 2023 – characterisation of variants in a panel of at least 25 genes using DNA and RNA, to determine the diagnosis, prognosis and/or management of a patient with a suspected malignancy of myeloid origin.

New wording 73297 – November 2023 – the term ‘may’ has been included concerning familial variant predictive gene testing, indicating other genes not listed may be covered.

New wording 73296 – November 2023 – the requirement for a ‘Quantitative algorithm’ has been removed when determining the >10% risk a patient has of having a pathogenic or likely pathogenic gene.