GI cancer

MBS items for genetic tests for heritable mutations relating to colorectal and endometrial cancer


Genetic tests to identify heritable mutations that increase the risk of developing colorectal and endometrial cancer are now available on Medicare subsidy.

The new MBS items that take effect from 1 May, will make genetic testing available for 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).

Dr Melody Caramins, Chair of the Royal College of Pathologists of Australasia Genetics Advisory Committee says anyone with colorectal cancer who is suspected of having a genetic component now has access to testing for free, subsidised by the MBS.

“Depending on which laboratory performs the testing, the cost for patients can reach into the high hundreds, to thousands of dollars because multiple genes are tested at once.  Now that the step has been taken to subsidise testing by the MBS for free, this testing will now be far more accessible for patients.”

“Once a mutation is identified, testing can then be offered to the patient’s family.  Since there is potentially a large group of people who may be eligible for testing, this will really increase survival rates for patients,” she said.

According to Professor Caramins, around 15,600 Australians are diagnosed with colorectal cancer each year, including 1,414 people under the age of 50.  About 10-30% of patients with colorectal cancer have a family history and approximately 10% are due to well understood hereditary cancer syndromes.

“The results of a genetic test can indicate which family members have inherited a familial genetic variant which will significantly increase their risk and will affect screening and prevention options.

“If someone carries a familial mutation and is an individual where a cancer has not yet presented, regular colonoscopies will be required from an early age, every couple of years.  These patients also have other options to reduce their future risk of cancer.”

“Conversely, if a causative mutation has been found within a family and testing shows that an individual does not carry the familial mutation, then they may not need to be screened as aggressively as they would otherwise.”

“Through preventative measures such as regular screening, we will be able to identify lesions or polyps at a pre-cancerous stage where survival rates are excellent.  Depending on the gene and type of cancer in those patients with mutations, up to 80% of them can go on to develop cancer. It is therefore very penetrant, and this testing means we will be preventing cancer much more effectively in this group of patients,” said Dr Caramins.

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