Multi gene testing at diagnosis, for all breast cancer patients, could save lives.

Eve researcher Dr Ranjit Manchanda, published a lifetime model evaluating the financial, health and social impact of multi-gene testing (BRCA1/2/PALB2) at diagnosis for all breast cancer patients which was found to be extremely cost effective.

The analysis, published in JAMA Oncology, suggests that just one year’s testing could save 2102 cases of breast and ovarian cancer and 633 lives in the UK alone. The research found multi-gene testing to be cost effective in between 98-99% of the simulations for the UK health system. 

The model analysed a number of scenarios from multi-gene (BRCA1/2 and PALB2) testing on the women diagnosed with breast cancer and compared the costs and health impact to the current family history based policy. The model took into account costs of genetic testing, preventative surgery for women found to have a genetic alteration and for testing and preventative measures (screening or surgery) to other members of the family as well as the costs of cancer treatment and associated health outcomes.

Currently in the UK anyone diagnosed with an ovarian cancer is offered genetic testing at the point of diagnosis, which opens up the possibility of targeted treatments, as well as the potential to allow the prevention of other BRCA mutation related cancers, and for other direct family members to be offered testing. However, currently women diagnosed with breast cancer still need to meet the family history criteria for example of having two first degree relatives (parents/children or siblings) diagnosed with a BRCA related cancer to be eligible.

Dr Ranjit Manchanda, Consultant Gynaecological Oncologist at The Royal London Hospital, and Professor at Wolfson Institute of Preventive Medicine, Barts Cancer Institute, Queen Mary University of London, and NHS Innovation Accelerator Fellow, says:

 “Our findings support the concept of broadening genetic testing for breast and ovarian cancer genes to all women with breast cancer, beyond just the current criteria-based approach. This could prevent many more breast and ovarian cancers than the current testing strategy, saving many lives.

“With the costs of testing falling this can provide huge new opportunities for cancer prevention and changes in the way we deliver cancer genetic testing. This approach can ensure that more women can take preventative action to reduce their cancer risk or undertake regular screening.”


You can read the full story on the Eve Appeal blog.