New ovarian cancer test offered for women at high risk

Women with an inherited risk of developing ovarian cancer because they have the so-called Angelina Jolie gene alteration can now be tested on the NHS thanks to UCL research.

University College London Hospital (UCLH) has become the first NHS hospital in England to offer the screening service, with other hospitals in the country expected to follow.

Women with BRCA1 or BRCA2 gene alterations face a significantly higher risk of developing both ovarian and breast cancer.

Public awareness of the two genes was raised in 2013 when Hollywood actress Angelina Jolie had a double mastectomy to cut her chance of developing breast cancer.

In 2017, the UCL-led UK Familial Ovarian Cancer Screening Study (UKFOCSS) found that screening women at high risk of ovarian cancer (including those with BRCA gene alterations) every four months reduced the likelihood of them being diagnosed with advanced ovarian cancer.

Then in 2022, another UCL study found that regularly monitoring women with BRCA gene alterations in a "real world" NHS setting appeared to be cost-saving to the NHS, because it is less expensive to treat earlier stage cancers than more advanced stages. The study also included a combined analysis of a U.S. trial and the two U.K. trials, confirming that the surveillance diagnosed cancers earlier, when they are easier to treat.

Current NHS guidelines recommend surgery to remove the ovaries and fallopian tubes for these women, as this is the only really effective way of preventing ovarian cancer. But this leads to early menopause for premenopausal individuals and prevents future childbearing.

Now UCLH is rolling out the new testing service outside a trial setting for the first time.

The service is for women across North Central London who have a high risk of ovarian cancer due to inherited BRCA1 or BRCA2 gene alterations and who wish to defer preventative surgery.

It will give women who want time to have children and to postpone premature menopause the chance to detect ovarian cancer earlier, when treatment should not be as complex and their prognosis would be expected to be better.

Professor Adam Rosenthal (UCL EGA Institute for Women's Health) was clinical lead on the UKFOCSS trial and led the pilot NHS research program, known as ALDO (Avoiding Late Diagnosis of Ovarian cancer), for the 2022 study.

He said, "At the moment premenopausal women with BRCA gene alterations face a very stark choice—either preventive surgery which means you can no longer have children and which causes a sudden surgical menopause, which has detrimental effects, with hormone replacement therapy not guaranteed to make you feel the same way as you feel now. Alternatively, you can put off the surgery, but risk being diagnosed with an advanced ovarian cancer with a poor prognosis.

"Having pioneered the clinical trials in this area, we have reached a significant milestone in being able to offer Risk of Ovarian Cancer Algorithm (ROCA) Test surveillance for high-risk women in our NHS Familial Cancer Clinic.

"While we have to advise preventive surgery as the safest course of action, this service will give those women who want to defer the surgery a surveillance option which reduces their risk of being diagnosed at an advanced stage of ovarian cancer."

The ROCA Test's proprietary algorithm calculates a woman's individual risk based on several factors.

These include cumulative CA 125 blood test results, age, menopausal status and the presence of a BRCA1 or BRCA2 gene alteration. Having the ROCA blood test every four months reduces the chance of being diagnosed with late-stage ovarian cancer (stages III and IV).

The two UCL-led studies, and a third, US study which was also conducted using the ROCA Test in high-risk women, together reported a 44% reduction in stage III and IV ovarian cancer.

Based on the three studies' data, the NHS advisory body, the National Institute for Health and Care Excellence (NICE), concluded that the ROCA Test was the preferred method of surveillance for women deferring preventative surgery. Economic analysis also indicates a cost saving to the NHS.

Women who carry a cancer-causing variant in the BRCA1 or BRCA2 gene have a 44% and 17% lifetime risk of ovarian cancer, respectively, up to the age of 80 years.

About 1 in every 400 people carries a cancer-causing variant in the BRCA1 or BRCA2 gene.

UCLH has set up the new service in collaboration with the NHS North Central London Cancer Alliance and UK-based company GENinCode Plc which specializes in genetic risk assessment for cardiovascular disease and ovarian cancer.

Provided by University College London