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Should all women have ‘Angelina Jolie gene test’?

The Times reported recently on a call for all women to be screened for “Angelina Jolie-type genetic mutations” to prevent thousands of cases of cancer.

According to experts at the world’s biggest cancer conference in the United States, routine testing for BRCA mutations was a “no-brainer” that would save hundreds of lives a year, identifying women at higher risk in their 20s or 30s and so allowing them to opt for intensive screening or preventive surgery.

 Approximately one in 400 women have mutations of the BRCA tumour suppressor genes, causing their risk of breast cancer to be around 80%, and their risk of ovarian cancer around 40%. Those who have the BRCA mutation can opt for preventive surgery, however, greatly reducing their risk of these cancers. Angelina Jolie had both breasts removed in 2013, and her ovaries removed in March 2015.

British experts estimate that such a screening programme could prevent around 2,500 cancer cases a year, but would involve screening millions of women at a cost of hundreds of millions of pounds.

It is also not simply a case of carrying out a blood test. Vicki Kiesel, Genetic Director of GeneHealth UK and a registered and certified genetic counsellor working within the NHS, explains: “In terms of testing every woman for BRCA, there is an argument for it. I don’t think there would be anything wrong with it being a routine test at a certain age. However, I categorically do not believe that a healthy woman who has not had cancer should get BRCA testing without being carefully counselled. Psychologically, that would be incredibly detrimental. Even for those who are already dealing with cancer, genetic testing is emotive, as it may affect their children and may involve possible future surgeries. For a young woman who is healthy, the decision whether she should have BRCA testing or not has huge ramifications.”

Those ramifications include whether to have a double mastectomy, or have ovaries removed. If the woman is single, this may also affect future relationships and the opportunity to have children. “What we don’t want is for someone to be tested without being aware of these issues and having thought them through. I’ve seen a lot of women who have had a lot of careful counselling beforehand and who still struggle with it.”

She adds: “Inherited BRCA mutations are actually very rare, and the vast majority of inherited risk is due to something called SNP (‘snip’) – Single Nucleotide Polymorphism. Essentially, they are very small changes that have a very small influence on breast cancer risk, but taken together give a good idea of what a woman’s risk factor is.”

Vicki suggests that the future lies in a more nuanced, targeted approach. “It seems highly likely that there will be routine testing for every women diagnosed with breast cancer. What I think should be available to all women, however, is a good risk assessment considering a number of factors, of which genetic testing – with counselling – is just one possible part.”

 

 

 

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