Women with an inherited risk of developing ovarian cancer because they have the so-called Angelina Jolie gene mutation 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 mutations face a significantly higher risk of developing both ovarian and breast cancer.
Public awareness of the two mutations 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 (FOCSS) confirmed that screening women at high risk of ovarian cancer every four months may reduce the likelihood of them being diagnosed with advanced cancer.
Then in 2022, another UCL study found that regularly monitoring women with BRCA gene alterations associated with cancer could benefit them by catching concerning developments at earlier stages while they are more treatable.
Current NHS guidelines recommend surgery to remove ovaries and fallopian tubes for these women. But this can lead to early menopause for pre-menopausal 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 these women more time to have children and enable them to postpone, or even avoid, having to undergo surgery which brings on their menopause prematurely.
Professor Adam Rosenthal (UCL EGA Institute for Women's Health) was clinical lead on the FOCSS trial and led the pilot NHS research programme, known as ALDO (Avoiding Late Diagnosis of Ovarian cancer), for the 2022 study.
He said: "At the moment women face a very stark choice - preventive surgery with the fact that if you're pre-menopausal, that means you can then no longer have children; and surgical menopause, which has detrimental effects, with hormone replacement therapy not guaranteed to make you feel the same way as you feel now.
"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.
"The service will give women with BRCA1 or BRCA2 gene alterations a surveillance option if they want to complete their families or defer preventive surgery for other reasons."
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 drugs 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.
Around one 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 specialises in genetic risk assessment for cardiovascular disease and ovarian cancer.
