与基于家族史检测相比，对阿什肯纳兹犹太妇女进行BRCA突变群体筛查的成本效益。
Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing.
作者信息
Manchanda Ranjit, Legood Rosa, Burnell Matthew, McGuire Alistair, Raikou Maria, Loggenberg Kelly, Wardle Jane, Sanderson Saskia, Gessler Sue, Side Lucy, Balogun Nyala, Desai Rakshit, Kumar Ajith, Dorkins Huw, Wallis Yvonne, Chapman Cyril, Taylor Rohan, Jacobs Chris, Tomlinson Ian, Beller Uziel, Menon Usha, Jacobs Ian
机构信息
Department of Gynaecological Oncology, St. Bartholomew's Hospital, West Smithfield, London, UK, (RM); Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, MB, KL, SG, LS, NB, RD, UM, IJ); Department of Health Services Research and Policy, London School of Hygiene and Tropical Medicine, London, UK (RL); Department of Health Economics, London School of Economics, Houghton Street, London, UK (AM, MR); Behavioural Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY (SS); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); NW Thames Regional Genetics Service, Kennedy Galton Centre, Middlesex, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's University of London, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); Welcome Trust Centre for Human Genetics, Roosevelt Drive, Headington Oxford, UK (IT); Department Gynaecology, Shaare Zedek Medical Centre, The Hebrew University of Jerusalem, Jerusalem, Israel (UB); School of Medicine, Faculty of Medical and Human Sciences & Manchester Academic Health Science Center, University of Manchester, Manchester, UK (IJ).
出版信息
J Natl Cancer Inst. 2014 Nov 30;107(1):380. doi: 10.1093/jnci/dju380. Print 2015 Jan.
BACKGROUND
Population-based testing for BRCA1/2 mutations detects the high proportion of carriers not identified by cancer family history (FH)-based testing. We compared the cost-effectiveness of population-based BRCA testing with the standard FH-based approach in Ashkenazi Jewish (AJ) women.
METHODS
A decision-analytic model was developed to compare lifetime costs and effects amongst AJ women in the UK of BRCA founder-mutation testing amongst: 1) all women in the population age 30 years or older and 2) just those with a strong FH (≥10% mutation risk). The model assumes that BRCA carriers are offered risk-reducing salpingo-oophorectomy and annual MRI/mammography screening or risk-reducing mastectomy. Model probabilities utilize the Genetic Cancer Prediction through Population Screening trial/published literature to estimate total costs, effects in terms of quality-adjusted life-years (QALYs), cancer incidence, incremental cost-effectiveness ratio (ICER), and population impact. Costs are reported at 2010 prices. Costs/outcomes were discounted at 3.5%. We used deterministic/probabilistic sensitivity analysis (PSA) to evaluate model uncertainty.
RESULTS
Compared with FH-based testing, population-screening saved 0.090 more life-years and 0.101 more QALYs resulting in 33 days' gain in life expectancy. Population screening was found to be cost saving with a baseline-discounted ICER of -£2079/QALY. Population-based screening lowered ovarian and breast cancer incidence by 0.34% and 0.62%. Assuming 71% testing uptake, this leads to 276 fewer ovarian and 508 fewer breast cancer cases. Overall, reduction in treatment costs led to a discounted cost savings of £3.7 million. Deterministic sensitivity analysis and 94% of simulations on PSA (threshold £20000) indicated that population screening is cost-effective, compared with current NHS policy.
CONCLUSION
Population-based screening for BRCA mutations is highly cost-effective compared with an FH-based approach in AJ women age 30 years and older.
背景
基于人群的BRCA1/2突变检测可发现很大一部分通过基于癌症家族史（FH）检测未被识别的携带者。我们比较了在阿什肯纳兹犹太（AJ）女性中基于人群的BRCA检测与标准的基于FH方法的成本效益。
方法
建立了一个决策分析模型，以比较英国AJ女性中进行BRCA始祖突变检测的终生成本和效果，检测对象为：1）所有30岁及以上的女性人群，以及2）仅那些具有强烈家族史（突变风险≥10%）的女性。该模型假设为BRCA携带者提供降低风险的输卵管卵巢切除术和每年的MRI/乳房X线筛查或降低风险的乳房切除术。模型概率利用通过人群筛查进行遗传癌症预测试验/已发表文献来估计总成本、以质量调整生命年（QALY）衡量的效果、癌症发病率、增量成本效益比（ICER）和人群影响。成本按2010年价格报告。成本/结果按3.5%进行贴现。我们使用确定性/概率敏感性分析（PSA）来评估模型的不确定性。
结果
与基于FH的检测相比，人群筛查多挽救了0.090个生命年和0.101个QALY，预期寿命增加了33天。发现人群筛查具有成本节约效益，基线贴现ICER为-2079英镑/QALY。基于人群的筛查使卵巢癌和乳腺癌发病率分别降低了0.34%和0.62%。假设检测接受率为71%，这将导致卵巢癌病例减少276例，乳腺癌病例减少508例。总体而言，治疗成本的降低导致贴现成本节约370万英镑。确定性敏感性分析和PSA的94%模拟（阈值20000英镑）表明，与当前英国国家医疗服务体系（NHS）政策相比，人群筛查具有成本效益。
结论
与基于FH的方法相比，对30岁及以上的AJ女性进行基于人群的BRCA突变筛查具有很高的成本效益。
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