未经评估:建议对有乳房或有乳房风险的人进行有针对性的种系测试,卵巢,或结直肠癌。过去十年来,基因测序的可负担性有所提高,因此,这些癌症检测的成本效益值得重新评估.
UASSIGNED:为了系统地审查对乳房生殖系测试的成本效益的经济评估,卵巢,或结直肠癌。
UNASSIGNED:搜索PubMed和Embase数据库,以进行乳房种系测试的成本效益研究,卵巢,或结直肠癌,1999年至2022年5月出版。方法的综合,成本效益,并进行报告(CHEERS检查表)。
UNASSIGNED:跨目标设置的遗传性乳腺癌或卵巢癌(HBOC)的种系测试与标准护理选择的增量成本效益比(ICER;2021年调整后的美元)如下:(1)全人群测试:344-250万/QALY;(2)高风险妇女:优势=8,7118/QALY,8,337-59,708/LYG;(3)现有乳腺癌或卵巢癌:3,012-72,566/QALY,39,835/LYG;和(4)转移性乳腺癌:158,630/QALY。同样,跨设置结直肠癌的种系测试的ICER是:(1)全人群测试:132,200/QALY,110万/LYG;(2)高风险人群:32,322-76,750/QALY,显性=353/LYG;(3)现有结直肠癌患者:显性=54,122/QALY,98790-630万/LYG。漏报的关键领域是纳入健康经济分析计划(HBOC和结直肠研究的100%),患者和利益相关者的参与(占HBOC的95.4%,100%的结直肠研究)和结果测量(18.2%HBOC,38.9%的结直肠研究)。
UNASSIGNED:HBOC的胚系测试可能在大多数情况下都具有成本效益,除非与PARP抑制剂作为共同依赖的技术使用,奥拉帕尼治疗转移性乳腺癌。在大肠癌研究中,在高风险人群中进行测试具有成本效益,但在其他情况下尚无定论。成本效益对测试变体的患病率敏感,测试成本,摄取,和预防措施的好处。有关种系测试的政策建议应在其建议中强调这些因素的重要性。
乳房,卵巢,前列腺,结直肠癌是癌症相关死亡的主要原因之一。这些癌症患者中有很大一部分具有遗传突变。这些基因异常的鉴定可以为人们提供利用预防性风险降低手术或对这些癌症进行频繁的常规检测的机会。然而,基因检测需要医疗资源和资金。以前关于家族性癌症基因检测的成本效益的综述得出结论,有针对性的筛查,即,对高风险人群的选择性评估可以证明测试成本是合理的。我们对乳腺癌和卵巢癌经济学研究的评估,然而,这表明,从30岁以上的所有健康女性的筛查到现有乳腺癌或卵巢癌女性的检测,基因检测在各种情况下都具有成本效益。在转移性乳腺癌中进行测试,以告知使用Olaparib的治疗,一种已知能选择性提高基因突变患者生存率的药物,是测试不符合成本效益的唯一例外。与乳腺癌或卵巢癌的发现相反,在高风险人群中,结直肠癌的检测具有成本效益,即家族史,但在其他情况下尚无定论。缺乏关于前列腺癌测试的成本效益的证据,因此我们无法在该癌症组中提供建议。
UNASSIGNED: Targeted germline testing is recommended for those with or at risk of breast, ovarian, or colorectal cancer. The affordability of genetic sequencing has improved over the past decade, therefore the cost-effectiveness of testing for these cancers is worthy of reassessment.
UNASSIGNED: To systematically
review economic evaluations on cost-effectiveness of germline testing in breast, ovarian, or colorectal cancer.
UNASSIGNED: A search of PubMed and Embase databases for cost-effectiveness studies on germline testing in breast, ovarian, or colorectal cancer, published between 1999 and May 2022. Synthesis of methodology, cost-effectiveness, and reporting (CHEERS checklist) was performed.
UNASSIGNED: The incremental cost-effectiveness ratios (ICERs; in 2021-adjusted US$) for germline testing versus the standard care option in hereditary breast or ovarian cancer (HBOC) across target settings were as follows: (1) population-wide testing: 344-2.5 million/QALY; (2) women with high-risk: dominant = 78,118/QALY, 8,337-59,708/LYG; (3) existing breast or ovarian cancer: 3,012-72,566/QALY, 39,835/LYG; and (4) metastatic breast cancer: 158,630/QALY. Likewise, ICERs of germline testing for colorectal cancer across settings were: (1) population-wide testing: 132,200/QALY, 1.1 million/LYG; (2) people with high-risk: 32,322-76,750/QALY, dominant = 353/LYG; and (3) patients with existing colorectal cancer: dominant = 54,122/QALY, 98,790-6.3 million/LYG. Key areas of underreporting were the inclusion of a health economic analysis plan (100% of HBOC and colorectal studies), engagement of patients and stakeholders (95.4% of HBOC, 100% of colorectal studies) and measurement of outcomes (18.2% HBOC, 38.9% of colorectal studies).
UNASSIGNED: Germline testing for HBOC was likely to be cost-effective across most settings, except when used as
a co-dependent technology with the PARP inhibitor, olaparib in metastatic breast cancer. In colorectal cancer studies, testing was cost-effective in those with high-risk, but inconclusive in other settings. Cost-effectiveness was sensitive to the prevalence of tested variants, cost of testing, uptake, and benefits of prophylactic measures. Policy advice on germline testing should emphasize the importance of these factors in their recommendations.
Breast, ovarian, prostate, and colorectal cancers are among the top causes of cancer related deaths.
A substantial proportion of people with these cancers have inherited mutations. The identification of these gene abnormalities could provide people with opportunities to utilize preventive risk reduction surgeries or undertake frequent routine testing for these cancers. However, genetic testing requires healthcare resources and money. Previous reviews on the cost-effectiveness of genetic testing in familial cancers have concluded that targeted screening i.e., selective assessment of people at high-risk could justify the costs of testing. Our evaluation of economic studies in breast and ovarian cancer, however, suggests that genetic testing is cost-effective across a wide variety of situations starting from the screening of all healthy women above 30 years to the testing of women with existing breast or ovarian cancer. Testing in metastatic breast cancer to inform treatment with Olaparib, a drug known to selectively improve survival in people with genetic mutations, was the sole exception where testing was not cost-effective. Contrary to findings for breast or ovarian cancer, testing for colorectal cancer was cost-effective in people with high-risk i.e., family history but inconclusive in other situations. Evidence on the cost-effectiveness of testing in prostate cancer is lacking and as
a result we were not able to provide advice in this cancer group.