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Genetic Carrier Screening MBS Item Coming November 2023
The Federal Government has announced that reproductive carrier testing for three conditions – cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) will be placed on the Medicare Benefit Schedule in November 2023.
This is very welcome news which will benefit many Australian families providing more options for couples on their reproductive journey and removing the current health inequity of having to pay for testing.
It is expected that the item numbers will cover females who are planning to have a baby or who are in the early stages of pregnancy and the reproductive partners of identified carrier females. Further details will be confirmed as they are made available.
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.
We look forward to this listing.
Latest MBS Genetic Updates
Updated items 73295, 73301 – September 2022 – replacing the specific drug name of ‘olaparib’ with the name of the class of drugs ‘poly (adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitors’
Updated Item 73325 – July 2022 – determination of JAK2 V617F variant allele frequency in a patient with evidence of a myeloproliferative neoplasm. MPL removed from this item and now covered under item 73397.
New Item 73396 – July 2022 – JAK2 exon 12 gene testing in the diagnostic work‑up of polycythaemia vera. Specialist request only.
New Item 73397 – July 2022 – CALR and MPL gene testing in the diagnostic work‑up of essential thrombocythaemia or primary myelofibrosis. Specialist request only.
New Items 73398, 73399 – July 2022 – extended gene panels in the diagnostic work‑up of polycythaemia vera or essential thrombocythaemia. Must include JAK2 (including exons 12 and 14, CALR and MPL genes. Specialist request only.
New Item 73410 – July 2022 – testing for common HBA1 and HBA2 deletions for diagnosis or carrier screening for alpha thalassaemia in a patient of reproductive age.
New Items 73411, 73412, 73413 – July 2022 – comprehensive testing of HBA1 and HBA2 for diagnosis or carrier screening of alpha thalassaemia in a patient of reproductive age, contingent on inconclusive testing performed under item 73410.
New Items 73303 & 73304 – April 2022 – BRCA1 and BRCA2 somatic or germline testing for people living with metastatic castration resistant prostate cancer for the purposes of accessing the chemotherapy drug olaparib under the PBS.
Updated item 73296 – March 2021 – expanded coverage for pathogenic variant testing for genes BRCA1, BRCA2, STK11, PTEN, CDH1, PALB2, TP53 in patients with breast and ovarian cancer to patients with breast, ovarian, fallopian tube or primary peritoneal cancer where there is a >10% risk according to a recognised algorithm.
NSW Centre for Genetics Educationhttps://www.genetics.edu.au/
NHMRC information on genetics for consumers and clinicians:
RACGP genomics in general practice
RCPA – what is pathology and what is genetic pathologyhttps://www.rcpa.edu.au/Library/College-Policies/Position-Statements/Role-of-the-Genetic-Pathologist
RANZCOG guidelines on prenatal screening and diagnostic tests for fetal genetic conditions
RANZCOG guidelines on Genetic carrier screening
PHG Foundation – working to translate medical advances into practical benefits with a special focus on genomics
Genomics Education Programme
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