Issue #106
September 2020
Screening entire populations for BRCA1/2 could prevent millions of deaths

According to a recent international study, screening all women over 30 for breast and ovarian cancer gene mutations could prevent thousands of deaths and would also be cost effective in high and upper-middle income countries. Whilst genetic pathologist, Dr Melody Caramins, welcomes the findings from the research, she explains that the health system must first be adequately resourced before any changes are made to the clinical guidelines.

“Breast cancer affects around one in eight women at some point during their life, more commonly after the menopause. Faulty genes are the underlying cause for ~10% of breast cancers, and whilst not the sole cause of breast cancer, BRCA1 and BRCA2 greatly increase an individual’s chance of developing breast and ovarian cancer if mutated. Breast cancer is very common and, BRCA associated cancer in particular, can be a more aggressive disease. The sooner we can detect the mutation, the more choices are available to women.

“Those that have a BRCA1/2 mutation have up to an 80% chance of getting breast cancer within their lifetime. Regardless of whether a person receives a positive or a negative result, there are benefits to genetic testing. A positive test result may resolve uncertainty regarding future cancer risk and allows people to make informed decisions about their future, including taking steps to reduce their cancer risk,” said Dr Caramins.

Global clinical guidelines currently recommend genetic testing for BRCA1/2 only in high risk women. Research carried out by Queen Mary University of London looked at whether broadening screening to encompass all women over 30 would help prevent these cancers. Findings suggested that population based BRCA testing can prevent an additional 2,319-2,666 breast cancer and 327-449 ovarian cancer cases per million women than the current clinical strategy.[1] The research includes analysis for Britain, the United States, the Netherlands, China, India and Brazil.

In Australia, genetic testing for all women who are determined as being at high risk from BRCA1 and BRCA2 is available either via the Medicare Benefit Schedule (MBS) or State-based health funding. This research raises the question of whether current guidelines provide the most benefit for women in Australia.

“From a financial perspective and from a health economic view, making genetic screening for BRCA1/2 available to all women makes sense. However, there are quite a few steps between showing that it is economically viable and actually putting it into place. Testing all women would place quite a burden on the provision of responsible testing, therefore we would first have to ensure that the health system is resourced to deal with this change.

“Predictive genetic testing needs to be preceded by genetic counselling which is a pretty finite resource and requires years of training. So, whilst this research confirms the need to invest in cancer prevention, any changes to clinical guidelines for BRCA screening tests would require careful consideration to ensure the appropriate resources were in place to support individuals and families,” said Dr Caramins.







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