It's time for gene testing to be available to all women with ovarian cancer

It’s time for gene testing to be available to all women with ovarian cancer

Today is World Ovarian Cancer Day (WOCD). WOCD began in 2013 to unite ovarian cancer organisations from around the world to educate their communities about ovarian cancer.

One of the facts about ovarian cancer that is very under-appreciated is the role of hereditary gene mutations. Mutations in 10 genes are already known to be involved in causing ovarian cancer and 1 in 5 women with ovarian cancer will carry a mutation in one of these genes. That’s 20% of ovarian cancer.

By far the biggest contribution is from mutations in BRCA1 and BRCA2, which together account for about 15% of ovarian cancer. That’s >30,000 women diagnosed with ovarian cancer across the world each year. This is a far greater proportion than for breast cancer. Only about 3% of breast cancer is due to BRCA1 or BRCA2 mutations.

Despite the major role of gene mutations in causing ovarian cancer, access to gene testing is very variable, even in the UK and US. There are several historical reasons for this, though lack of knowledge of the contribution is probably the foremost reason. Whenever I tell people how much ovarian cancer is due to BRCA gene mutations I am still greeted with surprise. People are also surprised to learn that many ovarian cancer patients with BRCA mutations do not have strong family history, and testing only women with a family history of breast or ovarian cancer will miss many women with mutations.

It is very important to know whether or not a woman with ovarian cancer has a gene mutation. It increasingly impacts on their treatment, particularly with the advent of drugs such as PARP inhibitors, which are particularly effective in women with cancer due to BRCA mutations. Women with mutations are also at risk of getting cancer again and need closer follow-up and to make decisions about management of their future cancer risk. And of course identifying a mutation allows healthy relatives to have testing, should they wish to, and offers the potential for preventing ovarian cancer.

Modern gene testing methods mean it is now feasible and affordable for many health services to offer gene testing to all women with ovarian cancer. Making this happen in UK is a key focus of the Mainstreaming Cancer Genetics (MCG) programme. We have implemented a new ‘mainstreaming model for BRCA gene testing in ovarian cancer patients at the Royal Marsden Hospital in London, where it is now routinely offered. The test is offered by the cancer team, who have undergone online training so they can consent for the test, and the results are interpreted by Genetics. Any woman with a mutation automatically has an appointment with Genetics.

All 125 women with ovarian cancer that have been offered the test through the new pathway have accepted it and we have identified mutations in 18%. We are now planning to roll-out the model to other hospitals and we very much hope that all women with ovarian cancer in UK will soon have access to gene testing.

It is time for gene testing to be part of standard care for ovarian cancer.

Image credit: World Ovarian Cancer Day (WOCD) logo from