Bourke Mackenzie, McInerney-Leo Aideen, Steinberg Julia, Boughtwood Tiffany, Milch Vivienne, Ross Anna Laura, Ambrosino Elena, Dalziel Kim, Franchini Fanny, Huang Li, Peters Riccarda, Gonzalez Francisco Santos, Goranitis Ilias
Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, 207 Bouverie Street, Melbourne, VIC, 3053, Australia.
Frazer Institute, Dermatology Research Centre, The University of Queensland, Brisbane, QLD, Australia.
Appl Health Econ Health Policy. 2025 May;23(3):359-393. doi: 10.1007/s40258-025-00949-w. Epub 2025 Mar 29.
Genomic medicine offers an unprecedented opportunity to improve cancer outcomes through prevention, early detection and precision therapy. Health policy makers worldwide are developing strategies to embed genomic medicine in routine cancer care. Successful translation of genomic medicine, however, remains slow. This systematic review aims to identify and synthesise published evidence on the cost effectiveness of genomic medicine in cancer control. The insights could support efforts to accelerate access to cost-effective applications of human genomics.
The study protocol was registered with PROSPERO (CRD42024480842), and the review was conducted in line with Preferred Reporting Items for Systematic Reviews and Meta Analyses (PRISMA) Guidelines. The search was run in four databases: MEDLINE, Embase, CINAHL and EconLit. Full economic evaluations of genomic technologies at any stage of cancer care, and published after 2018 and in English, were included for data extraction.
The review identified 137 articles that met the inclusion criteria. Most economic evaluations focused on the prevention and early detection stage (n = 44; 32%), the treatment stage (n = 36; 26%), and managing relapsed, refractory or progressive disease (n = 51, 37%). Convergent cost-effectiveness evidence was identified for the prevention and early detection of breast and ovarian cancer, and for colorectal and endometrial cancers. For cancer treatment, the use of genomic testing for guiding therapy was highly likely to be cost effective for breast and blood cancers. Studies reported that genomic medicine was cost effective for advanced and metastatic non-small cell lung cancer. There was insufficient or mixed evidence regarding the cost effectiveness of genomic medicine in the management of other cancers.
This review mapped out the cost-effectiveness evidence of genomic medicine across the cancer care continuum. Gaps in the literature mean that potentially cost-effective uses of genomic medicine in cancer control, for example rare cancers or cancers of unknown primary, may be being overlooked. Evidence on the value of information and budget impact are critical, and advancements in methods to include distributional effects, system capacity and consumer preferences will be valuable. Expanding the current cost-effectiveness evidence base is essential to enable the sustainable and equitable translation of genomic medicine.
基因组医学为通过预防、早期检测和精准治疗改善癌症治疗效果提供了前所未有的机遇。全球卫生政策制定者正在制定战略，将基因组医学纳入常规癌症护理。然而，基因组医学的成功转化仍然缓慢。本系统综述旨在识别和综合已发表的关于基因组医学在癌症控制中成本效益的证据。这些见解可为加速获取具有成本效益的人类基因组学应用的努力提供支持。
研究方案已在国际前瞻性系统评价注册库（PROSPERO，注册号：CRD42024480842）注册，综述按照系统评价和Meta分析的首选报告项目（PRISMA）指南进行。检索在四个数据库中进行：医学文献数据库（MEDLINE）、荷兰医学文摘数据库（Embase）、护理学与健康领域数据库（CINAHL）和经济学文献数据库（EconLit）。纳入2018年后发表的、英文的、关于癌症护理任何阶段基因组技术的全面经济评估，以进行数据提取。
该综述确定了137篇符合纳入标准的文章。大多数经济评估集中在预防和早期检测阶段（n = 44；32%）、治疗阶段（n = 36；26%）以及管理复发、难治或进展性疾病阶段（n = 51；37%）。在乳腺癌和卵巢癌以及结直肠癌和子宫内膜癌的预防和早期检测方面，发现了趋同的成本效益证据。对于癌症治疗，使用基因组检测指导治疗在乳腺癌和血癌中极有可能具有成本效益。研究报告称，基因组医学对晚期和转移性非小细胞肺癌具有成本效益。关于基因组医学在其他癌症管理中的成本效益，证据不足或存在矛盾。
本综述梳理了基因组医学在整个癌症护理连续过程中的成本效益证据。文献中的空白意味着基因组医学在癌症控制中潜在的成本效益用途，例如罕见癌症或原发灶不明的癌症，可能被忽视。关于信息价值和预算影响的证据至关重要，纳入分配效应、系统能力和消费者偏好的方法进展将很有价值。扩大当前的成本效益证据基础对于实现基因组医学的可持续和公平转化至关重要。
