Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, VIC, Melbourne, Australia.
The Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, VIC, Melbourne, Australia.
Genet Med. 2020 May;22(5):831-839. doi: 10.1038/s41436-020-0751-3. Epub 2020 Jan 30.
Women who inherit a BRCA1 or BRCA2 pathogenic variant are at high risk of developing breast and ovarian cancer. Evidence for the effectiveness and cost-effectiveness of long-term management in clinical practice is lacking. The purpose of this study was to evaluate the real-world cost-effectiveness of BRCA carrier management within a structured clinical program.
Lifetime health outcomes and costs of clinical management for female unaffected BRCA carriers aged 20 were measured using a microsimulation model. For the intervention, women could attend a high-risk clinic, undergo risk-reducing surgery, and receive annual breast screening. Input data for the model was from a clinical database of 983 BRCA carriers. The comparator was no risk management. Outcomes were discounted at 5%.
The incremental cost-effectiveness ratio for the program was $32,359 to $48,263 per quality-adjusted life-year (QALY). Limiting uptake of risk-reducing salpingo-oophorectomy to <50% of carriers decreased cost-effectiveness by $7000-8000 per QALY. Achieving perfect adherence to guidelines was less cost-effective for BRCA2 due to increased risk-reducing mastectomy costs with smaller incremental health benefit.
Long-term management of BRCA carriers within a structured clinical program is cost-effective. Suboptimal adherence to risk management guidelines can substantially affect outcomes and is an important consideration for future studies.
携带 BRCA1 或 BRCA2 致病性变异的女性罹患乳腺癌和卵巢癌的风险很高。缺乏临床实践中长期管理有效性和成本效益的证据。本研究旨在评估在结构化临床方案中进行 BRCA 携带者管理的真实世界成本效益。
使用微观模拟模型测量 20 岁无影响 BRCA 携带者的终生健康结果和临床管理成本。对于干预措施，女性可以参加高危诊所、进行降低风险的手术并接受年度乳房筛查。模型的输入数据来自 983 名 BRCA 携带者的临床数据库。比较组为无风险管理。结果以 5%贴现。
该计划的增量成本效益比为每质量调整生命年（QALY）$32359 至 $48263。将预防性输卵管卵巢切除术的使用率限制在<50%的携带者，可使每 QALY 的成本效益降低 7000-8000 美元。由于降低风险的乳房切除术成本增加，BRCA2 达到完美的依从性指导方针的成本效益较低，而健康获益增量较小。
在结构化临床方案中对 BRCA 携带者进行长期管理具有成本效益。风险管理指南的依从性不理想会对结果产生重大影响，这是未来研究的一个重要考虑因素。
