An economic evaluation led by WIPH authors shows that population-based BRCA genetic testing would be cost effective compared with current family history-based testing in Canada. The study results show that that population-based BRCA-testing could potentially prevent an additional 2,555 breast and 485 ovarian cancer cases in the Canadian population, averting 196 breast cancer deaths and 163 ovarian cancer deaths per million population.
Carriers of pathogenic variants in BRCA1 and BRCA2 are at increased risk of breast and ovarian cancers, and are offered risk-reducing salpingo-oophorectomy to reduce their ovarian cancer risk, and MRI and mammography screening, medical prevention, and risk-reducing mastectomy to reduce their risk of breast cancer. Current Canadian guidelines recommend that women undertake BRCA1/BRCA2 genetic testing if they fulfil established clinical or family history. These criteria aim to identify women with a 5-10% probability of carrying BRCA1/BRCA2 pathogenic variants, but the policy misses approximately 50% of carriers in women with cancer, and much higher proportions with population ascertainment. An estimated 97% of pathogenic variant carriers remain undetected, despite BRCA testing having been available for around 30 years.
To estimate the incremental lifetime health outcomes, costs, and cost effectiveness associated with population-based BRCA testing compared with family history testing in Canada, this economic evaluation conducted analyses using 1 million simulated Canadian women aged 30. Outcomes of interest included ovarian and breast cancers, and incremental cost effectiveness ratios (ICER) per quality adjusted life year (QALY). From the Markov model, results show that the base case ICERs of population-based BRCA-testing were CAD $32,276/quality adjusted life year (QALY) (payer perspective) or CAD $16,416/QALY (societal perspective) compared with family history-based testing, well below the Canadian cost effectiveness thresholds. Population-testing was cost effective for ages 40-60, but not 70.
Authors say that population-based BRCA genetic testing is cost effective from both payer and societal perspectives, and can identify many more carriers, who will be missed under the current practice of BRCA testing based on family history and clinical criteria.
Sun L, Wei X, Fierheller CT, Dawson L, Oxley S, Kalra A, Sia J, Feldman F, Peacock S, Schrader K, Legood R, Kwon J, Manchanda R. Economic Evaluation of Population-Based BRCA1 and BRCA2 Testing in Canada. JAMA Netw Open. 2024;7(9):e2432725. doi:10.1001/jamanetworkopen.2024.32725