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 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
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 olaprib 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.
Items 73354, 73355, 73356 – May 2020 – for genetic testing to identify inheritable variants predisposing to colorectal and endometrial cancer, specifically the identification of heritable mutations associated with the clinical presentations of Lynch Syndrome (LS), Familial Adenomatous Polyposis (FAP), MUTYH-Associated Polyposis (MAP), Juvenile Polyposis Syndrome (JPS), Peutz-Jeghers Syndrome (PJS), and Hereditary Mixed Polyposis Syndrome (HMPS).
Item 73357 – May 2020 – testing in biological relatives of affected individuals identified under items 73354, 73355 or 73356.
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
Leading the way to improved health
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