Wolfson Institute of Preventive Medicine - Barts and The London

Genetic Testing For All Breast Cancer Patients At Diagnosis Could Save Lives

An analysis published on 3 October in JAMA Oncology describes a lifetime model evaluating the financial, health and social impact of multi-gene testing (BRCA1/2/PALB2) at diagnosis for all breast cancer patients, and concludes that the policy would save lives and be extremely cost effective for both UK and US health systems. The model incorporated data from 11,800 breast cancer patients in the UK, USA and Australia, and suggests 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.

9 October 2019

The research, led by Dr Ranjit Manchanda at Queen Mary University of London in collaboration with Dr Rosa Legood at the London School of Hygiene & Tropical Medicine, found multi-gene 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 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 with the current policy of restricted testing based on family history or clinical criteria. The modelling found multi-gene testing to have an incremental cost-effectiveness ratio (ICER) of £10,464 per quality adjusted life year (QALY) from the payer perspective in the UK. In the USA the ICER/QALY is $65,661/QALY (from the payer-perspective) or $61,618/QALY (from the societal-perspective). This is well below the threshold (£20-£30,000 per QALY in the UK and $100,000/QALY in the USA) for NICE and policy makers to consider implementing this new strategy.

Mutations on the BRCA genes put women at a higher risk of both ovarian (17-44%) and breast (69-72%) cancers. The PALB2 gene 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 preventive surgery, such as a double mastectomy and surgery to remove the ovaries (oophorectomy). Medication (chemo-prevention) can also reduce the risk of certain types of breast cancer.

Dr Manchanda and the research team are now calling for the policy to be changed so that all women diagnosed with a breast cancer are automatically tested for alterations in the BRCA genes and PALB2.

Dr Ranjit Manchanda: “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."

Read the full paper in JAMA Oncology