Feature Genetic Testing

Routine testing for women with ovarian cancer

BMJ 2014; 348 doi: https://doi.org/10.1136/bmj.g1200 (Published 26 February 2014) Cite this as: BMJ 2014;348:g1200
  1. Sophie Arie, freelance journalist
  1. 1 London, UK
  1. sophiearie{at}fmail.co.uk

Until now, genetic testing has been offered only to women with a strong family history of ovarian cancer. But as testing gets cheaper and faster, it may soon be possible to test all patients. Sophie Arie looks at the potential benefits and concerns

Genetic testing may soon be offered routinely to all women with ovarian cancer as it could improve their chances of survival and help prevent the disease in relatives.

Until now, doctors have relied on a patient’s knowledge of her family’s medical history to work out if she might be carrying the gene mutations BRCA1 and BRCA2, which increases the risk of developing ovarian and breast cancer.1 But this system misses women who do not have a strong family history or are unaware of their family medical history. Around 7000 new cases of ovarian cancer are diagnosed in the UK every year,2 and 15% of those are in patients who carry BRCA gene mutations.3 Half of those with BRCA gene mutations do not have a family history of the disease.

With gene sequencing technology improving and the cost of genetic testing falling, many medical professionals and patients are convinced that routine testing makes sense.

“This is likely to become de facto, normal, part of what people do,” says Paul Pharoah who studies genetic susceptibility to cancer at the University of Cambridge. If future cancers can be prevented as a result of genetic testing then the value, not just for individuals but for the NHS budget, is obvious.

In Scotland, testing has recently been extended to all women with epithelial ovarian cancer. Charlie Gourley, chair of medical oncology at the Edinburgh Cancer Research Centre, has been offering patients at the University of Edinburgh Western General Hospital genetic testing since November 2012. He estimates that 95% have …

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