Call for genetic testing for all women with breast cancer

Multigene testing for all women diagnosed with breast cancer would save thousands of lives each year in the UK and USA, suggests new research.

In the study, published in JAMA Oncology, researchers found that one-year screening programme to test not only for BRCA1 and BRCA2 – as per current approach – but also for PALB2 mutations, could prevent 2101 cases of breast or ovarian cancer and 633 deaths in the UK, and 9733 cases and 2406 deaths in the USA.

According to NICE (National Institute for Health and Care Excellence) recommendations, economic evaluations of health outcomes should be carried out when new tests or treatments are introduced in the UK healthcare system. Results of such analyses are reported using a measure called QALY – the cost of a year of good quality of life.

Professor Ranjit Manchanda at the Barts Cancer Institute in London, who led the study, and his team performed a cost-effectiveness simulation analysis and found that the cost of multigene testing laid below the established cost-effectiveness thresholds for the UK (£20,000-30,000/QALY) and the USA (US$100,000/QALY) healthcare systems. In this case, scientists have considered the cost of genetic testing, cancer treatment, preventative surgery and screening or surgery for family members.

Professor Manchanda told the BBC: 'We should be testing more. This approach can ensure that more women can take preventative action to reduce their cancer risk or undertake regular screening.'

Currently, only patients considered at risk, for example with a family history of breast cancer, are offered the check. In the UK, women diagnosed with ovarian cancer are offered testing to evaluate if they carry a genetic mutation that would increase their risk of breast cancer. But the same does not apply to breast cancer patients.

'If I'd known what I know now, I would have had a full mastectomy instead of a lumpectomy,' Alison Dagul told the BBC, explaining how she found out she had inherited BRCA1 mutation from her father after she had had treatment for breast cancer and was later diagnosed with ovarian cancer too.

Dagul's daughter had a preventative double mastectomy when she was 26, and she is now in the process of planning for surgery to prevent ovarian cancer. 'It is a horrible cloud to live under, but I am so grateful she has had the chance I didn't, to prevent herself from getting these cancers,' said Dagul.

More than 130,000 UK breast cancer deaths have been avoided in the past 30 years, according to new Cancer Research UK analyses to mark Breast Cancer Awareness Month. The death rate for women has fallen by 44 percent since 1989, when breast cancer deaths in the UK hit a record high with around 15,600 women dying.

Cancer Research UK's chief executive Michelle Mitchell said: 'These numbers show that research is working, and we should celebrate the considerable progress that's been made.'