Cost-effective to screen all women for breast cancer genes: study

Genetic testing for all women over 30 would prevent millions of deaths from breast and ovarian cancer globally and be cost effective in medium and higher income countries.

That is the conclusion of international research published in the journal Cancers, looking at the economic case for population-level screening for the BRCA1 and BRCA2 gene mutations.

Breast cancer is the most common cancer in Australia and these gene mutations are known to cause 10-20 per cent of ovarian and 6 per cent of breast cancers. The genes were made famous by Hollywood actress Angelina Jolie who had a double mastectomy in 2013 after losing her mother to cancer at 56 and discovering she had the BRCA1 gene mutation.

Melody Caramins, a Sydney-based genetic pathologist and ambassador for Pathology Awareness Australia, said the BRCA mutations made a woman 85 per cent more likely to develop breast cancer in her lifetime. This risk could be mitigated if known, through risk reduction surgery, increased screening or preventative medication.

Global clinical guidelines only recommend genetic testing for high-risk women, for example those fitting clinical criteria or with a strong family history of breast or ovarian cancer. However, half of BRCA carriers do not meet the criteria and are not tested.

“To me it’s pretty momentous, in terms of saying that the guidelines laid out are too strict and that relaxing them and providing testing … would certainly provide a lot of benefit and double detection rates of hereditary breast cancer,” Dr Caramins said.

“We’re still talking about testing in a medically driven framework in the appropriate way with counselling, we’re not just talking about a free for all.”

The research includes analysis for Britain, the United States, the Netherlands, China, India and Brazil. It analysed cost effectiveness both in terms of the medical costs and societal factors such as the impact of income lost from inability to work and shorter life spans due to cancer.

Nicole Braude, 30, from Neutral Bay, inquired about genetic testing for BRCA at age 23 after reading about Jolie and remembering that her grandmother died of breast cancer in her 30s.

Her GP at the time dismissed the idea but it came up again a few years later when one of her cousins started researching it. In 2016 Ms Braude and her sister paid for genetic testing – since they did not meet the criteria – and discovered they had the gene.

They started having additional screening but only a year later a routine scan detected aggressive breast cancer in Ms Braude’s older sister, who was only 30 at the time.

“Pretty much everyone’s lives just completely changed at that moment,” Ms Braude said.

“It was traumatic and heartbreaking but had we not had that early detection that we picked up through BRCA screening, I have no doubt she wouldn’t have still be here three years later.”

After helping her sister through her treatment including IVF, removal of the tumour, six months of chemotherapy and a double mastectomy, Ms Braude decided to also have surgery to dramatically reduce her own risk and IVF to ensure her future babies would not carry the BRCA mutations. Now pregnant with her first child, she will have a hysterectomy after completing her family and feels she has “changed her own future”.

Professor John Hopper, a genetic epidemiologist at the University of Melbourne, said an economic analysis was an important first step and there were parallels for Australia.

Professor Hopper is listed as an author on the paper because he contributed data but he is not as bullish as the lead authors. He said mammograms were a better predictor of who would develop breast cancer than genetic tests.

“What we’ve been doing [by basing it on family history] is really simplistic but the prospect of finding all carriers by screening the whole population – well it might happen by the end of the century,” he said. “There are a lot of other things we need to screen the population for at the moment.”

Source: The Sydney Morning Herald By: Caitlin Fitzsimmons

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