Research discovers that testing for BRCA mutations is cost-effective for at risk group

A new study published in the American Journal of Obstetrics and Gynaecology has shown that screening all Sephardi Jewish women for the BRCA1 gene mutation commonly found in this community is extremely cost effective and better than the current strategy of testing on the basis of family history alone.

Women carrying BRCA 1 mutations have approximately a 44% chance of getting ovarian cancer and a 69% chance of getting breast cancer over their life time. Women who have been identified to carry a BRCA1 mutation can opt for a number of options to manage and reduce their risk. This includes enhanced screening for breast cancer and risk-reducing surgery for ovarian or breast cancer. Currently testing is offered only on the basis of family history or personal history of cancer. However this approach misses around 50% of gene carriers as they do not give a strong family history of cancer. Offering testing to everyone who wants it (i.e. population testing) can overcome these drawbacks. Given the options available to reduce cancer risk in high risk BRCA1 women, this is of significant importance.


The research study was led by Dr Ranjit Manchanda at Barts Cancer Institute, Queen Mary University of London and funded by The Eve Appeal. The researchers compared costs and health outcomes of population and family history based BRCA1 testing approaches in Sephardi Jewish women. They found that a population testing strategy prevents more breast and ovarian cancers than the current family history based testing, and was extremely cost-effective both for US and UK health systems. Dr Manchanda’s research (also funded by the Eve Appeal) has previously shown that population testing is cost effective in Ashkenazi Jewish women. This analysis was undertaken for Sephardi Jewish women. Around 20% of Jews are of Sephardi descent. Additionally only one of the three BRCA mutations commonly found in Ashkenazi Jews are present in Sephardi Jews. While around 1 in 40 Ashkenazi Jews carry a BRCA gene alteration, up to 1 in 100 Sephardi Jews may carry this.

Dr Ranjit Manchanda commenting on the findings, said: “Our research confirms that population testing would be cost-effective for Sephardi Jewish women too. Our work supports changing the current paradigm to population-based BRCA- testing in the entire Jewish population regardless of Ashkenazi or Sephardi ancestry. Implementing such a programme to test all Sephardi and Ashkenazi Jewish women over 30 years age could result in fewer cases of ovarian and breast cancers in these women while being highly cost-effective for the US and the UK health systems.”