Genetic testing

The MBS (Medicare Benefits Schedule) rebate is only available for BRCA-related testing ordered by a “specialist or consultant physician.” This may be a Geneticist or other specialist through a Familial Cancer Centre or a patient’s breast specialist, surgeon, oncologist or gynae oncologist. For patients who may fall into the high-risk group but don’t have follow-up organised with a relevant specialist referral to an FCC (Familial Cancer Centre) for assessment is still an option. 

Yes, the main item number applies only to living individuals who have had a diagnosis of breast or ovarian cancer and who meet the high-risk criteria. Men who have been diagnosed with breast cancer may be eligible, however individuals diagnosed with other potentially “BRCA-related” cancers such as prostate cancer, pancreatic adenocarcinoma, or melanoma would not qualify. Unaffected individuals would only be eligible for funded testing if a pathogenic mutation has already been detected in an affected family member. 

Medicare funded BRCA genetic testing is available to all women with breast or ovarian cancer who have a one in 10 (or greater) chance of carrying a gene mutation. The new Medicare Item number doesn’t change who can be offered genetic testing for breast or ovarian cancer – the criterion for genetic testing remains the same – but the test is now funded by the Commonwealth rather than the State Government.  

The new Medicare funded policy does however mean that women who are currently eligible for BRCA genetic testing, can be tested by their treating specialists and do not have to be referred to a Familial Cancer Centre. 

If you have attended a Familial Cancer Centre in the past but weren’t eligible for public funded testing at that time, you won’t qualify for the new Medicare funded testing unless there has been a change in your personal or family history of cancer. 

Women with most types of ovarian cancer are eligible for BRCA genetic testing and should discuss this with their treating physician or a Familial Cancer Centre.  

BRCA genetic testing is not funded for women who do not have breast or ovarian cancer, unless a mutation is already known in the family. The Medicare funding does not alter that situation. However, a Familial Cancer Centre can assess your family history and determine your cancer risk. A Familial Cancer Centre can also recommend the appropriate cancer risk reduction strategies for your level of risk. Your family doctor can refer you to a local FCC to find out more. 

Yes, private BRCA testing is possible through a Familial Cancer service. The cost may vary depending on which centre you contact. There are usually waiting times if you seek testing through a specialist service in a public hospital. 

At the discretion of the health professional, genetic testing can be discussed and undertaken during active cancer management or during follow up. However, results will routinely take eight weeks or more from receipt of sample, so if the result is required for management decisions, timing of testing must be planned accordingly.  

Testing is usually performed on a routine blood sample (EDTA) and involves screening the full sequence of the genes BRCA1 and BRCA2 along with an additional test for copy number variations. The MBS funding also allows for additional screening of a small number of genes that are much less frequently found as a cause of an elevated risk of breast cancer (TP53, PALB2, PTEN, STK11, CDH1) as part of a ‘gene panel’ test. Results will typically take a minimum of eight weeks to become available, but turnaround times will vary between labs. 

MBS funding is based on an individual being assessed as having at least a 10% chance of carrying a pathogenic mutation in BRCA1 or BRCA2 (i.e., the combined risk of having a mutation in either genos). The probability of a mutation being present varies depending on the age at which breast or ovarian cancer is diagnosed, the specific type of breast or ovarian cancer diagnosed, and the number of other family members affected. Other factors might include male breast cancer, individuals diagnosed with bilateral breast cancer, or Ashkenazi Jewish heritage.  

The descriptor for the MBS number requires that these factors be assessed using a ‘quantified algorithm.’ Several such validated algorithms are available that vary from straight forward scoring tools, such as the Manchester Score, to more sophisticated programs, such BRCAPro (hosted by Harvard University) or the web-based application BOADICEA (hosted by Cambridge University). The more advanced tools allow all a patient’s family history to be included and have been shown to the most accurate in predicting mutation probability. More details on these algorithms can be found at: 

• Manchester Score
• BRCAPro
• BOADICEA

Patients should be informed of the possibility that a gene mutation may be involved as a cause of their cancer diagnosis and how finding out about this possibility may be helpful for their current and future management, including the specific relevance of the test for their treatment.  

They should understand that if a gene mutation is found it may provide important information about future cancer risks and the need for ongoing screening or other interventions to manage the risk. However, it is important to remember that most tests are normal and therefore very detailed discussions regarding risk management for the patient and relatives, prior to testing, are not always required. 

The patient should also be aware that the result may provide information of relevance to the wider family. Namely, if a mutation is identified then other relatives may also carry this mutation and be at increased risk of breast and associated cancers. In that situation predictive genetic testing would be available to relatives if they wished to know this information. 

If a patient has questions that require either more time or more expertise than you can provide, the patient can call or be referred to a specialist Familial Cancer Centre and speak to a genetic counsellor.  

If a cancer patient applies for life cover, critical illness or income protection cover after the gene test is performed then it will need to be disclosed, along with the other information about their cancer diagnosis. This is less likely to have an impact on the cover or terms most patients would be offered over and above the impact of their cancer diagnosis. 

Genetic testing will not affect their ability to obtain health insurance in Australia. Close relatives seeking life cover, critical illness or income protection cover in Australia would need to tell an insurance company about their family history and if a gene mutation has been found (if they are aware of it). If the test result is normal, some insurance companies may take this into consideration to mitigate the unfavourable impact of the family history on the policy.  

Find out more information on the insurance implications of genetic testing

Documentation of informed consent is recommended for all genetic testing. Guidelines outlining best practice for physicians ordering genetic testing are published by the: 

• National Health and Medical Research Council 
• Human Genetics society of Australasia            
• National Pathology Accreditation Advisory Council    

Genetic testing is always optional. A patient may decline to be tested, ask to have longer to think about testing or be referred to a genetic service if they want, or need, more detailed discussion. 

The results of genetic tests ordered by specialists outside of the FCC will be provided to the ordering physician only. It is important that you can interpret the result and provide or organise the necessary follow-up for the patient, including referral to a familial cancer centre if needed.  

This is the most likely result. The current testing and analysis are very thorough, and it is unlikely a mutation has been missed in the genes tested, but no test can completely exclude a genetic contribution to the personal or family history of cancer. If the patient has a significant family history of cancer, they may still require enhanced cancer screening on account of their family history alone and may benefit from referral to a specialist service such as an FCC.  

Very occasionally a variant is identified where it is difficult to interpret whether it affects gene function or not. This may occur more often in individuals of non-Caucasian ethnicity. Some variants are assessed to have a low likelihood of being pathogenic (i.e., of disrupting gene function). Some variants may require further evaluation. If a VUS is found it will often be important for the patient to be referred to a specialist service, such as an FCC, where the implications and any further analysis that could be useful can be discussed with the patient.  

The patient’s current and future management may be altered, and this can be discussed with them at a subsequent appointment. It will typically be indicated to refer the patient to a service that can provide genetic counselling for further discussion of the implications for the patient and their family, and to facilitate communication of this information to other family members. Genetic counsellors can also assist in referring other family members to clinical genetic service/FCC for further information.  

If you or your patient have any questions about genetic testing, the implications or results you can call (03 8559 5322) or email the Parkville FCC.