BRCA Genetic Testing in Australia

24 Sep 2014 by Krystal Barter


BRCA genetic testing is available to anyone in Australia through private laboratories. BRCA gene testing costs differ between laboratories and start from approximately $900. Although genetic testing is accessible and becoming increasingly cheaper it is not always helpful in clarifying the risk of breast and ovarian cancer for many people.

Self funding gene testing can be arranged through a GP. This means the person covers the cost of the test. There are no Medicare or private health rebates for the cost of a BRCA gene test. Publically (government health) funded BRCA genetic testing is available through public and some private Familial Cancer Centres (FCC) across Australia to those families who meet certain criteria.

What are the criteria for offering publically funded BRCA genetic testing?
There are national guidelines that are used when offering publically funded BRCA gene testing in Australia. It is generally accepted that when offering BRCA testing in a family for the first time, the person offered testing must be either affected by a relevant cancer (usually breast or ovarian cancer) and have a more than 10% likelihood of a gene mutation. Or if unaffected by cancer have more than a 20% likelihood of a gene mutation. The assessment of this likelihood is generated using an alogorithm that uses the following information:

  • The number of family members who have developed a BRCA related cancer i.e. breast, ovarian, prostate, pancreatic cancers
  • Age at cancer diagnosis
  • Pathology (type) of cancer
  • Ancestry

If a person falls below the threshold to offer BRCA gene testing, it doesn’t mean there is no chance of a BRCA mutation being present. It is just that the chance of finding one is not high and it is more likely there is another reason for the cancer being present.

Access to genetic testing for families of Jewish ancestry with a family history of breast and ovarian cancer is approached differently as there are specific gene changes that can be tested for. Therefore is someone is in this situation they are best assessed referred to a Familial Cancer Service.

Why can’t everyone have free BRCA genetic testing?
Although gene testing can be helpful, it does not always provide all the answers needed to help clarifying a woman’s level of breast or ovarian cancer risk. Only 5% of women who develop breast cancer have a high risk breast cancer gene involved and of women with breast cancer who also have a familial breast cancer cluster 84% of those women do not have a BRCA gene mutation. Therefore in many situations a BRCA gene test will be normal and a woman may still be left with an unexplained family history of breast cancer that increases her personal risk of breast cancer.

It is important to keeping in mind that currently the lower testing threshold is set at 10%. This means 90% of families who are offered testing do not have a BRCA gene mutation.

Gene testing is costly and like any other area of public health, the spending of public money must be reasonable and justified. It is important to direct costly, specialised gene testing to men and women most likely to benefit, because if money is spent in one area of health that means less money is available to fund medications or tests for other people with diseases.

In what situations can self funding BRCA gene testing be a good idea?
In some families, there is a high chance of a BRCA gene mutation being present but there are no living relatives affected by cancer to offer gene testing to or where the appropriate person is not willing to have gene testing. Currently many Family Cancer Clinics are unable to publically fund genetic testing for people who are in these situations and are unaffected by cancer. This is a situation where some families may consider self funding BRCA testing. There are some limitations in interpreting a BRCA gene test result when done this way so it is worth knowing about these issues before going ahead with testing.

Do the criteria differ between states?
There are national guidelines that Family Cancer Clinics use to consider when to offer genetic testing. As these are guidelines there can be a difference in how these are applied by different clinics. Other factors that may influence who are offered gene testing may be the availability of clinical research trials where genetic testing may be part of the trial protocol.

What about other hereditary breast cancer genes?
BRCA1 and BRCA2 are the most common of the high risk single genes, however there are many other genes that cause a risk of breast cancer. Genetic technology is continually changing and improving. We have seen changes in the last two years, and we will continue to see changes in the availability of tests such as gene panels that allow genetic testing of a broader range of genes. These tests are only suitable for some situations. They provide both a greater chance of finding a causative gene mutation and provide cost savings where testing of several genes is warranted.


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