Questions over access to breast cancer gene testing

Angelina Jolie's announcement that she's had a double mastectomy has put the spotlight on the so-called 'breast cancer gene'.

For Samantha Dicicco, discovering she carried a gene that her doctors told her gave her an 85 per cent chance of developing breast cancer was something that didn't shock her.

“We were kind of flippant about it at the time,” she says.

Ms Dicicco, along with her mother and sister decided to undertake the testing because of their extensive family history of breast cancer; Ms Dicicco's maternal grandmother and great-grandmother both died of the disease, while several other women in the family had been diagnosed with it.

All three tested positive for the BRCA1 gene.

“We kept thinking it's not the end of the world, we weren't being diagnosed with cancer, we had just been told we had a higher risk of developing breast or ovarian cancer.”

Reality didn't strike until four years later, when Ms Dicicco was diagnosed with breast cancer.

“That brought to light that we probably should have been taking it more seriously,” she says.

The BRCA1 and BRCA2 gene is carried in 5 per cent of Australians – men and women -- and increases the risk of developing breast cancer to between 40 and 85 per cent.

The children of BRCA1 and BRCA2 carriers have a 50-per-cent chance of also carrying the gene.

However BRCA gene carriers who undergo a double mastectomy, the risk of developing breast cancer reduces to less than 5 per cent.

Breast surgeon and Chairman of Breast Screen Queensland, Associate Professor Ian Bennett says only some women who are found to carry the BRCA genes opt to undergo a prophylactic (preventative) mastectomy.

“I think in Australia about 20 per cent of women who are gene carriers would undergo prophylactic mastectomies. So, many do opt for the alternative approach which is to just have screening,” he says.

STRONG FAMILY HISTORY

At present, the BRCA1 and BRCA2 genes can only be detected with a specialised blood test.

Clinical Geneticist at Brisbane Genetics, Dr Michael Gattas says the availability of the procedure varies across Australia.

“BRCA1 and BRCA2 testing is not subsidised by Medicare, so much of this testing is done through the public hospital system, which means it's funded through state health departments,” he says.

“But the criteria by which the test is offered does vary from state to state. So the difficulty is you can have a family member who lives in one state who would be eligible for BRCA1 or 2 gene testing as a public hospital patient, but the state next door they might not meet the criteria.”

“As a rule of thumb, if you've got three relatives in the family affected with breast cancer, then you start to think well that's not just bad luck, and if there are additional features such as a young age of onset or if there's been bilateral breast cancer, meaning in both breasts, and lastly, having Jewish ancestry is also an important factor in having a BRCA1 or BRCA2 gene fault. So the more of those risk factors you have in your family, the more likely you'll be eligible for BRCA1 and BRCA2 gene testing.”

It costs approximately $1,650 to have the test done privately.

Dr Gattas says the lack of rebates or private health cover may deter some women from undertaking the test.

“There are people who would like to be tested but don't meet the current eligibility criteria and unfortunately have to put their health care dollar towards their own treatment rather than paying for any testing,” he says.

Director of the Immigrant Women's Health Service Dr Eman Sharobeem says the barriers posed in the testing process makes it particularly difficult for migrants and refugees to access the BRCA1 and BRCA2 testing.

“The migrant and refugee communities will look at their options within the Medicare system, but any extra cost added will be questioned by each family and by each woman,” she says.

“A majority of the migrant and refugee communities will put the children's needs first and then they will look into their own health and needs.”

'COST IS PROHIBITIVE'

Ms Dicicco, who underwent the BRCA testing without charge prior to it being patented, agrees the cost of the test may deter many women.

“I've spoken to lots of women and the ones that have a strong family history, they really are looking to find out is the strong family history because of BRCA1 or BRCA2 and the high costs are prohibiting a lot of women from having that done,” she says.

Her daughter, who is now 22, has tested positive for the BRCA1 gene, is undergoing a prophylactic mastectomy later this year.

Ms Dicicco says she has struggled to accept her daughter's decision to undergo the procedure at such a young age.

“It's going to be tough, and in my eyes I don't think she is going to know exactly how tough it is until she has it done. But the upside is not ever having to worry about that ever again,” she says.

“But the women I'm talking to and their daughters that are having it done are now in their early twenties. They're being a lot more proactive. I think women these days are taking their health a lot more seriously.”

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