Issue #102
May 2020
Potentially life-saving genetic testing for range of cancers introduced to MBS

This month, a number of items were added to the Medicare Benefits Schedule (MBS) following various applications to the Medical Services Advisory Committee (MSAC) by the RCPA. From 1 May 2020, molecular testing for a number of rare and less common cancers (RLC) was made available on the MBS, along with genetic testing to identify heritable mutations which increase risk in colorectal and endometrial cancer. RCPA Fellows Prof Sandra O’Toole and Dr Melody Caramins were involved in the applications and explain what this means for patients.

“By offering somatic gene testing for a wide range of RLC cancers, the prognosis and the quality of life of patients can be improved significantly. Although RLC cancers on their own are rare, when viewed as a collective, they affect a significant proportion of the population.

“Currently, it is commonplace for patients who are suffering from rare cancers to experience a significantly delayed diagnosis. The availability of these molecular tests through the MBS is therefore a very positive step forward to improve equity of access to more accurate diagnosis and better patient outcomes,” said Prof O’Toole.

In 2017, an estimated 52,000 people were diagnosed with RLC cancers, and 25,000 died from them, according to Cancer in Australia 2017 estimates[1]. The three successful applications relating to RLC cancers, encompass somatic gene testing for the diagnosis of a range of cancers, including brain tumours, lymphomas, sarcomas and rare salivary gland and ovarian tumours amongst others.

“The fact that the government is now funding these molecular tests means we anticipate that patients with RLC cancers will have a more accurate and rapid diagnosis and better treatment options. I believe this is going to be a game changer for how we diagnose these types of cancers,” said Prof O’Toole.

In addition to this new listing, genetic testing for hereditary colorectal and endometrial cancers is also now available on the MBS. The addition of these diagnostic genetic test items aims to improve identification of people at greater risk of developing colorectal and endometrial cancer and allow for appropriate change in management to prevent progression of disease.

“The addition of these items to the MBS is a huge step forward for cancer diagnosis and prevention. Anyone with colorectal cancer who is suspected of having a genetic component is now able to get testing done for free, subsidised by the MBS. Once a mutation is identified, testing can then be offered to the patient’s family. Since there are potentially quite a lot of people who may be eligible for testing, this will really increase survival for patients,” said Dr Caramins.

Colorectal cancer is the third most common type of newly diagnosed cancer in Australia. Around 15,600 Australians are told they have bowel cancer each year, including 1,414 people under the age of 50[2]. It is thought that 10-30% of patients with colorectal cancer have a family history[3], although the genetic component for all of these is not fully understood.

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

“Through preventative measure such as regular screening, we will be able to catch lesions or polyps at a pre-cancerous stage where survival is excellent,” said Dr Caramins.

 

 

References:

[1] https://www.rarecancers.org.au/page/90/our-mission

[2] https://www.bowelcanceraustralia.org/facts

[3] https://www.cancer.gov/types/colorectal/hp/colorectal-genetics-pdq

 

 

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The Royal College of Pathologists of Australasia
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