Department of Health Services Research and Policy, London School of Hygiene & Tropical Medicine, London, United Kingdom.
Centre for Cancer Screening, Prevention and Early Diagnosis, Wolfson Institute of Population Health, Queen Mary University of London, London, United Kingdom.
JAMA Netw Open. 2024 Sep 3;7(9):e2432725. doi: 10.1001/jamanetworkopen.2024.32725.
Population-based BRCA testing can identify many more BRCA carriers who will be missed by the current practice of BRCA testing based on family history (FH) and clinical criteria. These carriers can benefit from screening and prevention, potentially preventing many more breast and ovarian cancers and deaths than the current practice.
To estimate the incremental lifetime health outcomes, costs, and cost-effectiveness associated with population-based BRCA testing compared with FH-based testing in Canada.
DESIGN, SETTING, AND PARTICIPANTS: For this economic evaluation, a Markov model was developed to compare the lifetime costs and outcomes of BRCA1/BRCA2 testing for all general population women aged 30 years compared with FH-based testing. BRCA carriers are offered risk-reducing salpingo-oophorectomy to reduce their ovarian cancer risk and magnetic resonance imaging (MRI) and mammography screening, medical prevention, and risk-reducing mastectomy to reduce their breast cancer risk. The analyses were conducted from both payer and societal perspectives. This study was conducted from October 1, 2022, to February 20, 2024.
Outcomes of interest were ovarian cancer, breast cancer, additional heart disease deaths, and incremental cost-effectiveness ratio ICER per quality-adjusted life-year (QALY). One-way and probabilistic-sensitivity-analyses (PSA) were undertaken to explore the uncertainty.
In the simulated cohort of 1 000 000 women aged 30 years in Canada, the base case ICERs of population-based BRCA testing were CAD $32 276 (US $23 402.84) per QALY from the payer perspective or CAD $16 416 (US $11 903.00) per QALY from the societal perspective compared with FH-based testing, well below the established Canadian cost-effectiveness thresholds. Population testing remained cost-effective for ages 40 to 60 years but not at age 70 years. The results were robust for multiple scenarios, 1-way sensitivity, and PSA. More than 99% of simulations from payer and societal perspectives were cost-effective on PSA (5000 simulations) at the CAD $50 000 (US $36 254.25) per QALY willingness-to-pay threshold. Population-based BRCA testing could potentially prevent an additional 2555 breast cancers and 485 ovarian cancers in the Canadian population, corresponding to averting 196 breast cancer deaths and 163 ovarian cancer deaths per 1 000 000 population.
In this economic evaluation, population-based BRCA testing was cost-effective compared with FH-based testing in Canada from payer and societal perspectives. These findings suggest that changing the genetic testing paradigm to population-based testing could prevent thousands of breast and ovarian cancers.
基于人群的 BRCA 检测可以比当前基于家族史 (FH) 和临床标准的 BRCA 检测方法发现更多的 BRCA 携带者，这些携带者可以从筛查和预防中受益，从而可能比当前的做法预防更多的乳腺癌和卵巢癌以及死亡。
估计与基于 FH 的检测相比，在加拿大进行基于人群的 BRCA 检测与基于 FH 的检测相比，与 BRCA1/BRCA2 检测相关的增量终生健康结果、成本和成本效益。
设计、设置和参与者：为了进行这项经济评估，开发了一个马尔可夫模型，以比较对所有 30 岁的一般人群女性进行 BRCA1/BRCA2 检测与基于 FH 的检测的终生成本和结果。BRCA 携带者提供预防性输卵管卵巢切除术以降低卵巢癌风险，磁共振成像 (MRI) 和乳房 X 线摄影筛查、医学预防和预防性乳房切除术以降低乳腺癌风险。分析是从支付者和社会两个角度进行的。这项研究于 2022 年 10 月 1 日至 2024 年 2 月 20 日进行。
感兴趣的结果是卵巢癌、乳腺癌、额外的心脏病死亡和每质量调整生命年 (QALY) 的增量成本效益比 (ICER)。进行了单因素和概率敏感性分析 (PSA) 以探索不确定性。
在加拿大 100 万 30 岁女性的模拟队列中，基于人群的 BRCA 检测的基础病例 ICER 从支付者的角度来看为 CAD$32276（US$23402.84）/QALY，从社会的角度来看为 CAD$16416（US$11903.00）/QALY，远低于既定的加拿大成本效益阈值。人口检测在 40 至 60 岁时仍然具有成本效益，但在 70 岁时则不然。结果在多种情况下、单因素敏感性和 PSA 中是稳健的。支付者和社会观点的 PSA（5000 次模拟）中，超过 99%的模拟结果在 CAD$50000（US$36254.25）/QALY 的支付意愿阈值下具有成本效益。在加拿大人口中，基于人群的 BRCA 检测可能潜在地预防另外 2555 例乳腺癌和 485 例卵巢癌，相当于每 100 万人口预防 196 例乳腺癌死亡和 163 例卵巢癌死亡。
在这项经济评估中，从支付者和社会角度来看，基于人群的 BRCA 检测在加拿大与基于 FH 的检测相比具有成本效益。这些发现表明，改变基因检测范式为基于人群的检测可以预防数千例乳腺癌和卵巢癌。
