Call for population wide BRCA testing in the Jewish community

Eve funded research, published today in the BJOG is calling for population wide BRCA testing in the Ashkenazi-Jewish community following positive results. Our Communications Officer, Lydia Brain, discusses the research.

Mutations on the BRCA genes put women at a higher risk of both ovarian (17-44%) and breast (69-72%) cancers, and also increases the risk of male breast cancer, prostate and pancreatic cancer. Testing for the BRCA gene mutations offers women the opportunity to take measures to reduce their risk of cancer, either by increased monitoring (screening) or preventative surgery such as a double mastectomy and surgery to remove the ovaries and tubes (oophorectomy).

Lead author of today’s research, Dr Ranjit Manchanda says: “Ovarian cancer is a devastating disease that is usually diagnosed late, with less than half surviving five years and only a third surviving ten years after diagnosis. BRCA testing would give women the power to prevent ovarian and breast cancer and has the potential to save many lives.” Currently in the UK, to receive BRCA genetic counselling on the NHS you must have first-degree relatives diagnosed with a BRCA related cancer, that is either a parent, sibling or child. This means that to get BRCA testing, you have to wait for cancer to appear in your family, as well as the need for you and your GP to be aware of your family history and the link between cancers and BRCA.

Needing two BRCA related cancers in your family for testing means that only individuals with a 1 in 10 chance of carrying a BRCA mutation can currently access testing. But the majority of people with BRCA mutations fall below this threshold and won’t have been offered the chance to test their BRCA status. In the general UK population, 1 in every 200 people will carry the BRCA mutation, but in the Ashkenazi-Jewish community, individuals are five times as likely to carry a BRCA mutation and therefore be at a much higher risk of these related cancers.

The research published today in BJOG: An International Journal of Obstetrics and Gynaecology, led by Dr Ranjit Manchanda at Barts Cancer Institute, found that 60% of the people they found to have the BRCA gene through population testing wouldn’t currently qualify for the test.

The Genetic Cancer Prediction through Population Screening (GCaPPS) study compared population and family history based approaches to BRCA testing. The study was carried out from UCL and collaborators including the University of New South Wales. Population wide BRCA tested individuals had lower levels of feelings of overall anxiety and depression in the long term than those who were tested based on their family history alone. Anxiety levels decreased with time in both groups.

“The current NHS system is set up to prioritise diagnosis and treatment, and is not utilising the full potential of newer technologies for cancer prevention” says Dr Ranjit Manchanda. “The current system of restricted access to BRCA testing is associated with huge underutilisation. Our improved understanding of genetics and the technological capabilities we now have provide us with a fantastic opportunity to shift our healthcare landscape towards prevention of cancer.”

The Eve Appeal, Dr Manchanda, and the GCaPPS team are now calling for the policy to be changed for the Jewish community and for the first population wide genetic testing to be made available. This will enable many more people from this higher risk group to opt for the opportunity to be informed of their cancer risk so that they can make empowered decisions to manage their health and cancer risk. Dr Manchanda says: “Our findings support the introduction of genetic testing for breast and ovarian cancer genes across the entire Jewish population, beyond just the current criteria-based approach. This new model of population genetic testing, could in the future potentially be expanded to other populations for cancer predisposing inherited genetic changes and even other diseases.”

Caroline Presho underwent a preventative double mastectomy when she was 36 years old after testing positive for a BRCA gene mutation three years earlier. Caroline’s family is of Ashkenazi Jewish descent but she didn’t meet the family history criteria to have genetic testing. She says: “The current NICE guidelines meant initially I wasn’t eligible for BRCA testing, even with my Ashkenazi Jewish ancestry. Subsequent access to BRCA testing empowered me to make informed decisions about my personal health. This type of proactive healthcare not only saves lives, but will also save the NHS considerable amounts of money.”

Athena Lamnisos, our CEO, says: “Dr Manchanda’s research has shown just how many people from a community who we know to be at higher risk of carrying BRCA mutations (which cause ovarian and breast cancer), and where we can prevent this, may be missing out on testing under current policy. Stopping cancer before it starts for this group is possible – we must make sure that testing is available to enable women to make choices about how they manage their risk.”

Link to the paper in the BJOG