Genomics Diagnostics 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.
Latest MBS Genetic Updates
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 family members 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. Please ensure appropriate clinical notes are written 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.