Genetic testing for all breast cancer patients at point of diagnosis could save lives

Our Communications Officer, Lydia Brain, explains today’s Eve research news finding that multi-gene testing at the point of breast cancer diagnosis would be extremely cost effective and save lives.

Only 20-30% of people eligible for genetic counselling and testing for the BRCA gene in the UK are currently being referred due to limited awareness by healthcare professionals and the general public. 97% of people with the BRCA1/2 gene alterations are thought to not have been currently identified.

Advances in technology, falling costs of testing and the cancer prevention potential of wider genetic testing provides us with a fantastic opportunity to make prevention a priority and take advantage of this under-utilised tech.

Today, an Eve researcher, Dr Ranjit Manchanda, published a lifetime financial, health and social impact model of multi-gene testing (BRCA1/2/PALB2) at diagnosis for all breast cancer patients in the journal JAMA Oncology.

The model simulated the effect of carrying out multigene testing, looking for alterations on the BRCA1, BRCA2 and PALB2 genes on each woman diagnosed with breast cancer compared to the current policy of restricted testing based on family history or clinical criteria. The study incorporated information from around 11,800 women who had been diagnosed with breast cancer in the UK, USA and Australia.

The model analysed a number of scenarios from multi-gene 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.

The model found that multi-gene testing at diagnosis of breast cancer would be extremely cost effective, both in UK and the US, in fact it was cost effective in between 98-99% of the simulations for the UK health system, and 64-68% for the US health system. The model estimated that just one year’s testing could save 2102 cases of breast and ovarian cancer and 633 lives in the UK alone. In the US this would save 9733 cases of breast and ovarian cancer and 2406 lives.

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. PALB2 is a breast cancer gene and is associated with a breast cancer risk of around 44%. Testing for the BRCA and PALB2 gene mutations offers women the opportunity 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). Medication (chemo-prevention) can also reduce the risk of certain types of breast cancer.

Currently in the UK, USA and other health systems 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 Manchanda, his team and The Eve Appeal are now calling for the policy to be changed for all women diagnosed with a breast cancer to be automatically tested for alterations in the BRCA genes and PALB2. Which will enable many women to be empowered over their health and seek preventative measures, reducing the levels of cancer and saving lives.