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

A lifetime model evaluating the financial, health and social impact of multigene testing (BRCA1/2/PALB2) at diagnosis for all breast cancer patients was found to be extremely cost effective for both UK and US health systems.

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Genetic cancer testing
Genetic cancer testing

The analysis, published today in JAMA Oncology, suggests that just one year’s testing could save 2,102 cases of breast and ovarian cancer and 633 lives in the UK alone. In the US this would save 9,733 cases of breast and ovarian cancer and 2,406 lives.

The research led by Professor Ranjit Manchanda (Queen Mary University of London) in collaboration with Dr Rosa Legood (London School of Hygiene & Tropical Medicine), found multigene testing to be cost-effective in between 98-99% of the simulations for the UK health system, and 64-68% for the US health system. The team has called for all women diagnosed with a breast cancer to be offered genetic testing.

Challenging the current genetic screening policy

Professor Manchanda, Consultant Gynaecological Oncologist at Barts and the Royal London Hospital, and Professor at Wolfson Institute of Preventive Medicine and Barts Cancer Institute (Queen Mary), 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.”

Currently in the UK, USA and other healthcare systems, women diagnosed with breast cancer 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 for genetic screening. The research supports a policy change to bring breast cancer patient genetic testing in line with that currently used for women with ovarian cancer, where anyone diagnosed with an ovarian cancer is offered genetic testing at the point of diagnosis.

The model simulated the effect of carrying out multigene testing, looking for alterations on the BRCA1, BRCA2 and PALB2 genes in 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 modelling found multigene testing to be extremely cost-effective, with an incremental cost-effectiveness ratio of £10,464 per quality adjusted life year (QALY) from the payer perspective in the UK. This is well below the threshold for NICE and policy makers to consider implementing this new strategy (£20-£30,000 per QALY in the UK).

Providing the opportunity to take preventative measures

Mutations on the BRCA genes put women at a higher risk of both ovarian and breast cancers, and also increase the risk of male breast cancer and 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 can also reduce the risk of certain types of breast cancer.

Professor 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. This will enable many women to be empowered over their health and seek preventative measures, reducing the levels of cancer and saving lives.

This research was part of a collaboration with - and supported by - researchers from the London School of Hygiene & Tropical Medicine, Kaiser Permanente Washington Health Research Institute, Manchester University, Southampton University, Melbourne University, University of Monash and Peking University. For the full list of funders/supporters, please see here. Support and PPI activity provided by The Eve Appeal.

For media information, contact:

Chris Mahony
Faculty Communications Manager (Medicine and Dentistry)
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