Rosso A, Pitini E, D'Andrea E, Massimi A, De Vito C, Marzuillo C, Villari P
Department of Public Health and Infectious Diseases, Sapienza University of Rome, Italy.
Ann Ig. 2017 Sep-Oct;29(5):464-480. doi: 10.7416/ai.2017.2178.
Familial hypercholesterolemia (FH) is a genetic disorder that leads to elevated plasma LDL-cholesterol levels and premature coronary heart disease (CHD). An understanding of the mutations responsible for FH and the effectiveness of statins in lowering the risk of CHD in FH patients has increased interest in genetic screening strategies to improve FH diagnosis. In this study, we aimed to evaluate the cost-effectiveness of such strategies.
We performed a systematic review of full economic evaluations that assessed the cost-effectiveness of FH genetic screening strategies. We used relevant search terms to investigate Medline, Scopus, Web of Science, the Database of Abstracts of Reviews of Effects, the Health Technology Assessment Database, and the National Health Service Economic Evaluation Database. Data extraction and assessment of the quality of the studies were performed independently by two reviewers. The key features of the included studies are summarized in a narrative synthesis.
We included seven economic evaluations that assessed the cost-effectiveness of genetic screening for FH, published mainly in Europe between 2002 and 2015. Most studies had a no-screening strategy as a comparator, focused on relatives of index cases with genetic or clinical diagnosis of FH (cascade screening), considered a lifetime horizon and adopted a health care payer viewpoint. Cascade screening, based on genetic testing of relatives of an index case with confirmed clinical or genetic diagnosis of FH, was shown to be cost-effective in most settings.
Our review confirms the cost-effectiveness of cascade genetic screening for the diagnosis of FH. Further research may be needed to assess the cost-effectiveness of cascade screening following the introduction of newly recommended therapeutic regimes and next-generation sequencing.
家族性高胆固醇血症（FH）是一种遗传性疾病，可导致血浆低密度脂蛋白胆固醇水平升高和早发性冠心病（CHD）。对导致FH的突变以及他汀类药物在降低FH患者冠心病风险方面的有效性的了解，增加了人们对改善FH诊断的基因筛查策略的兴趣。在本研究中，我们旨在评估此类策略的成本效益。
我们对评估FH基因筛查策略成本效益的全面经济评估进行了系统综述。我们使用相关检索词对医学期刊数据库、Scopus数据库、科学引文索引数据库、循证医学数据库、卫生技术评估数据库和英国国家医疗服务体系经济评估数据库进行了检索。由两名评审员独立进行数据提取和研究质量评估。纳入研究的关键特征在叙述性综述中进行了总结。
我们纳入了七项评估FH基因筛查成本效益的经济评估研究，这些研究主要于2002年至2015年期间在欧洲发表。大多数研究将无筛查策略作为对照，重点关注已确诊FH的先证者的亲属（级联筛查），考虑终生视角并采用医疗保健支付方的观点。基于对已确诊临床或基因诊断为FH的先证者亲属进行基因检测的级联筛查，在大多数情况下被证明具有成本效益。
我们的综述证实了级联基因筛查在FH诊断中的成本效益。在引入新推荐的治疗方案和下一代测序后，可能需要进一步研究来评估级联筛查的成本效益。
