Blood tests for cancer gene mutations ‘more effective’ than just taking family history

The Eve Appeal says more lives could be saved if the NHS tested all women for BRCA gene mutation

Half of women carrying “cancer genes” may be missed by current NHS testing practices, according to new research.

The current practice of using someone’s family history to assess whether they are at risk of gene mutations linked to breast and ovarian cancer is not picking up those who actually have the mutation, a cancer charity warns.

The Eve Appeal says more lives could be saved if the NHS tested all women for BRCA gene mutations following a study which found that just over half of those with mutated BRCA genes were picked up by blood testing, but missed by the normal practice of taking a family history.

Women with a mutated BRCA1 or BRCA2 gene are thought to have a 15 to 45 per cent chance of getting ovarian cancer and a 45 to 65 per cent risk of developing breast cancer, and BRCA mutations affect about one in 800 to 1,000 people. But under current regulations, those without a strong family history of cancer or of having the variant genes are not eligible for a free NHS genetic test.

When the researchers examined members of the Ashkenazi Jewish community – known to have high numbers of people with BRCA mutations – they found blood testing to be significantly more effective in detecting potential problems than simply taking a family history. The researchers found that 56 per cent of people had BRCA mutations that were detected by blood testing, but missed by simply taking a family history.

A second study examining cost-effectiveness found that compared with taking family histories, testing the blood of all Ashkenazi women aged 30 or over would cut the incidences of breast and ovarian cancer and potentially save the NHS £3.7m.

Commenting on the research, published in the Journal of the National Cancer Institute, Athena Lamnisos, the chief executive of the Eve Appeal, said: “This shows that broadening genetic testing beyond just family history saves more lives and more money.”

The call for more blood testing came as US scientists published data from a pilot study suggesting an experimental breast cancer vaccine is capable of slowing the progression of the disease.

Of 14 women with metastatic, or spreading, breast cancer who received the vaccine, half showed no sign of tumour growth one year after treatment. Scientists at Washington University School of Medicine plan to follow their pilot trial with a larger study of newly diagnosed patients.