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 Soon!
The Medical Services Advisory Committee (MSAC) has supported an application by the Royal College of Pathologists of Australasia (RCPA) for MBS funding of reproductive carrier testing for three conditions – cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS).
This is very welcome news which will benefit many Australian families. Awaiting final approval from the Health Minister, MBS funded carrier testing for these conditions will provide more options for couples on their reproductive journey and remove 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 the confirmation of the listing date in the near future.
Latest MBS Genetic Updates
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.
New 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).
New Item 73357 – May 2020 – testing in biological relatives of affected individuals identified under items 73354, 73355 or 73356.
Item 73336 – Modified – As of 1 April 2020 encorafenib has been added to the two drugs currently available in this item (dabrafenib and vemurafenib). This will provide an additional PBS listed treatment drug for stage III and IV melanoma patients who receive a BRAF V600 positive test result when their tumour tissue is tested.
Item 73348 – Modified – As of 1 January 2020, general practitioners can now order a cystic fibrosis carrier test on a patient who has a laboratory established family history of cystic fibrosis. Appropriate clinical notes are required on the request form.
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
results in the shortest turnaround time.