Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States.
Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States.
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DOI：
10.1001/jamanetworkopen.2020.22874
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发表时间：
2020-10-01
影响因子：
13.8
通讯作者：
Veenstra DL
中科院分区：
文献类型：
--
作者：
Guzauskas GF;Garbett S;Zhou Z;Spencer SJ;Smith HS;Hao J;Hassen D;Snyder SR;Graves JA;Peterson JF;Williams MS;Veenstra DL
对遗传性乳腺癌和卵巢癌 (HBOC) 进行全人群基因组筛查是否具有成本效益？这项决策分析模型研究发现，根据所筛查女性的年龄分布，在未选择的女性中进行 HBOC 基因组筛查可能具有成本效益。对一级亲属的级联测试增加了临床和经济价值的适度改善。在可以评估筛查结果的环境中，可以考虑针对 20 至 35 岁女性进行 HBOC 人群水平基因组筛查，特别是避免减少检测结果阴性患者的乳房 X 光检查筛查。对未经选择的女性进行遗传性乳腺癌和卵巢癌 (HBOC) 基因组筛查为预防癌症发病率和死亡率提供了机会，但此类筛查的潜在临床影响和成本效益尚未得到充分研究。旨在评估未选择人群中 HBOC 基因组筛查与基于家族史的检测的终生增量发病率以及质量调整生命年 (QALY)、成本和成本效益。在2017年10月27日至2020年5月3日进行的这项研究中，开发了决策分析马尔可夫模型，其中包括癌前、降低风险的乳房切除术（RRM）和降低风险的输卵管卵巢切除术（RRSO）、早期和晚期HBOC、癌症后和死亡的健康状态。还开发了一个免费的级联测试模块来估计一级亲属的结果。特定年龄的 RRM 和 RRSO 吸收概率是根据 Geisinger MyCode 社区健康倡议和已发布的来源估计的。包括 RRM 和 RRSO 有效性、变异特异性癌症风险、成本和效用在内的参数均来自已发表的来源。进行敏感性和情景分析以评估模型假设和不确定性。计算未选择人群中基因组筛查与仅基于家族史的检测的终生癌症发病率、QALY、生命年和直接医疗费用。增量成本效益比 (ICER) 的计算方法为策略之间的成本差异除以策略之间的 QALY 差异。还计算了预防的早期和晚期癌症病例以及预防的癌症病例总数。该模型发现，对 30 岁女性进行人群筛查与每 100 名接受筛查的女性相比，总体癌症病例减少 75 例（95% 可信范围 [CR]，60-90），并且 QALY 增加 288 个（95% CR，212-373 QALY），与家庭相比，增量成本为 2500 万美元（95% CR，2100 万至 3000 万美元）基于历史的测试； ICER 为 87 700 美元（在每个 QALY 100 000 美元的阈值下，具有成本效益的可能性为 78%）。相比之下，每 100000 名接受筛查的女性对 45 岁女性进行人群筛查，癌症病例数减少 24 例（95% CR，18-29），并且 QALY 增加 97 个（95% CR，66-130 QALY），增量成本为 2600 万美元（95% CR，2200 万至 3000 万美元）； ICER 为 268 200 美元（在每个 QALY 100 000 美元的阈值下，具有成本效益的可能性为 0%）。不进行级联测试的情景分析将 30 岁女性的 ICER 增加到 92 600 美元，将 45 岁女性的 ICER 增加到 354 500 美元。情景分析假设，在没有变异的女性中，乳房 X 光检查筛查绝对减少 5%，这与潜在的净危害相关（每 100 000 名接受筛查的女性 -90 QALY；95% CR，-180 至 10 QALY）。这项研究的结果表明，人群 HBOC 筛查对于年轻女性可能具有成本效益，但对于老年女性则不然。对一级亲属的级联测试增加了临床和经济价值的适度改善。应量化非携带者中不适当减少乳房 X 光检查所造成的潜在危害。该决策分析估计了遗传性乳腺癌和卵巢癌的终生增量发病率，以及未选择人群中遗传性乳腺癌和卵巢癌基因组筛查与基于家族史的检测的质量调整生命年、成本和成本效益。
Is it cost-effective to implement population-wide genomic screening for hereditary breast and ovarian cancer (HBOC)? This decision analytical model study found that genomic screening for HBOC among unselected women may be cost-effective depending on the age distribution of the women screened. Cascade testing of first-degree relatives added a modest improvement in clinical and economic value. Population-level genomic screening for HBOC targeting women aged 20 to 35 years could be considered in settings in which the outcomes of screening can be evaluated, particularly to avoid a reduction in mammography screening among patients with negative test results. Genomic screening for hereditary breast and ovarian cancer (HBOC) in unselected women offers an opportunity to prevent cancer morbidity and mortality, but the potential clinical impact and cost-effectiveness of such screening have not been well studied. To estimate the lifetime incremental incidence of HBOC and the quality-adjusted life-years (QALYs), costs, and cost-effectiveness of HBOC genomic screening in an unselected population vs family history–based testing. In this study conducted from October 27, 2017, to May 3, 2020, a decision analytic Markov model was developed that included health states for precancer, for risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO), for earlier- and later-stage HBOC, after cancer, and for death. A complimentary cascade testing module was also developed to estimate outcomes in first-degree relatives. Age-specific RRM and RRSO uptake probabilities were estimated from the Geisinger MyCode Community Health Initiative and published sources. Parameters including RRM and RRSO effectiveness, variant-specific cancer risk, costs, and utilities were derived from published sources. Sensitivity and scenario analyses were conducted to evaluate model assumptions and uncertainty. Lifetime cancer incidence, QALYs, life-years, and direct medical costs for genomic screening in an unselected population vs family history–based testing only were calculated. The incremental cost-effectiveness ratio (ICER) was calculated as the difference in cost between strategies divided by the difference in QALYs between strategies. Earlier-stage and later-stage cancer cases prevented and total cancer cases prevented were also calculated. The model found that population screening of 30-year-old women was associated with 75 (95% credible range [CR], 60-90) fewer overall cancer cases and 288 QALYs (95% CR, 212-373 QALYs) gained per 100 000 women screened, at an incremental cost of $25 million (95% CR, $21 millon to $30 million) vs family history–based testing; the ICER was $87 700 (78% probability of being cost-effective at a threshold of $100 000 per QALY). In contrast, population screening of 45-year-old women was associated with 24 (95% CR, 18-29) fewer cancer cases and 97 QALYs (95% CR, 66-130 QALYs) gained per 100 000 women screened, at an incremental cost of $26 million (95% CR, $22 million to $30 million); the ICER was $268 200 (0% probability of being cost-effective at a threshold of $100 000 per QALY). A scenario analysis without cascade testing increased the ICER to $92 600 for 30-year-old women and $354 500 for 45-year-old women. A scenario analysis assuming a 5% absolute decrease in mammography screening in women without a variant was associated with the potential for net harm (−90 QALYs per 100 000 women screened; 95% CR, −180 to 10 QALYs). The results of this study suggest that population HBOC screening may be cost-effective among younger women but not among older women. Cascade testing of first-degree relatives added a modest improvement in clinical and economic value. The potential for harm conferred by inappropriate reduction in mammography among noncarriers should be quantified. This decision analysis estimates the lifetime incremental incidence of hereditary breast and ovarian cancer and the quality-adjusted life-years, costs, and cost-effectiveness of hereditary breast and ovarian cancer genomic screening in an unselected population vs family history–based testing.
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影响因子：
3.8
作者：
Grann, Victor R.;Patel, Priya R.;Jacobson, Judith S.;Warner, Ellen;Heitjan, Daniel F.;Ashby-Thompson, Maxine;Hershman, Dawn L.;Neugut, Alfred I.
通讯作者：
Neugut, Alfred I.
影响因子：
120.7
作者：
Kuchenbaecker, Karoline B.;Hopper, John L.;Antoniou, Antonis C.
通讯作者：
Antoniou, Antonis C.
影响因子：
10.3
作者：
Manchanda, Ranjit;Patel, Shreeya;Legood, Rosa
通讯作者：
Legood, Rosa
影响因子：
6.2
作者：
Cragun, Deborah;Weidner, Anne;Pal, Tuya
通讯作者：
Pal, Tuya
影响因子：
3.8
作者：
Chai, Xinglei;Friebel, Tara M.;Rebbeck, Timothy R.
通讯作者：
Rebbeck, Timothy R.