D'Andrea Elvira, Marzuillo Carolina, Pelone Ferruccio, De Vito Corrado, Villari Paolo
Dip. Sanità pubblica e malattie infettive, Sapienza Università di Roma, Italy.
Faculty of Health, Social Care and Education, Kingston University and St George's, University of London, London, UK.
Epidemiol Prev. 2015 Jul-Aug;39(4 Suppl 1):45-50.
To identify those studies in which economic analysis of predictive genetic and pharmacogenetic testing programs have been carried out. Since the Italian National Prevention Plan 2014-2018 foresees the implementation of genetic testing for inherited breast cancer, special attention was given to the cost-effectiveness of BRCA1/2 testing programs.
A systematic review of primary economic evaluations (EEs) of predictive genetic and pharmacogenetic testing programs and an overview of previously published systematic reviews of economic evaluations (ERs) was performed.
Overall 128 EEs and 11 ERs were identified. The methodological quality of both EEs and ERs was good on average. Both predictive genetic and pharmacogenetic testing programs were mainly concerned with oncological diseases. Seventeen percent of genetic testing programs are cost-saving, while a further 44% of cost/QALY ratios fall under the commonly used threshold of €37,000 per QALY. For BRCA1/2 testing, only cascade genetic screening programs, targeted to close relatives of carriers, show clear evidence of cost-effectiveness.
Despite some limitations, EEs and ERs are powerful tools that provide indications to policy-makers on which genetic testing programs might be introduced into health care systems and public health practice.
确定那些对预测性基因检测和药物遗传学检测项目进行经济分析的研究。由于意大利2014 - 2018年国家预防计划预计将实施遗传性乳腺癌基因检测，因此特别关注BRCA1/2检测项目的成本效益。
对预测性基因检测和药物遗传学检测项目的主要经济评估（EEs）进行系统评价，并对先前发表的经济评估系统评价（ERs）进行概述。
共识别出128项EEs和11项ERs。EEs和ERs的方法学质量总体良好。预测性基因检测和药物遗传学检测项目主要涉及肿瘤疾病。17%的基因检测项目具有成本节约效益，另有44%的成本/质量调整生命年（QALY）比值低于常用的每QALY 37,000欧元的阈值。对于BRCA1/2检测，只有针对携带者近亲的级联基因筛查项目显示出明显的成本效益证据。
尽管存在一些局限性，但EEs和ERs是强大的工具，可为政策制定者提供关于哪些基因检测项目可引入医疗保健系统和公共卫生实践的指示。
