Rogowski Wolf
Institute of Health Economics and Health Care Management, GSF-National Research Center for Environment and Health, Nurenberg, Germany.
Int J Technol Assess Health Care. 2006 Summer;22(3):327-37. doi: 10.1017/s0266462306051221.
The Human Genome Project has led to a multitude of new potential screening targets on the level of human DNA. The aim of this systematic review is to critically summarize the evidence from health economic evaluations of genetic screening in the literature.
Based on an extensive explorative search, an appropriate algorithm for a systematic database search was developed. Twenty-one health economic evaluations were identified and appraised using published quality criteria.
Genetic screening for eight conditions has been found to be investigated by health economic evaluation: hereditary breast and ovarian cancer, familial adenomatous polyposis (FAP) colorectal cancer, hereditary nonpolyposis colorectal carcinoma (HNPCC), retinoblastoma, familial hypercholesterolemia, hereditary hemochromatosis, insulin-dependent diabetes mellitus, and cystic fibrosis. Results range from dominated to cost-saving. Population-wide genetic screening may be considered cost-effective with limited quality of evidence only for three conditions. The methodology of the studies was of varying quality. Cost-effectiveness was primarily influenced by mutation prevalence, genetic test costs, mortality risk, effectiveness of treatment, age at screening, and discount rate.
Health economic evidence on genetic screening is limited: Only few conditions have properly been evaluated. Based on the existing evidence, healthcare decision makers should consider the introduction of selective genetic screening for FAP and HNPCC. As genetic test costs are declining, the existing evaluations may warrant updating. Especially in the case of hereditary hemochromatosis, genetic population screening may be about to turn from a dominated to a cost-effective or even cost-saving intervention.
人类基因组计划已在人类DNA层面带来了众多新的潜在筛查靶点。本系统评价的目的是严格总结文献中基因筛查健康经济评估的证据。
在广泛探索性检索的基础上，开发了一种适用于系统数据库检索的算法。使用已发表的质量标准对21项健康经济评估进行了识别和评估。
已发现健康经济评估对8种疾病进行了基因筛查研究：遗传性乳腺癌和卵巢癌、家族性腺瘤性息肉病（FAP）结直肠癌、遗传性非息肉病性结直肠癌（HNPCC）、视网膜母细胞瘤、家族性高胆固醇血症、遗传性血色素沉着症、胰岛素依赖型糖尿病和囊性纤维化。结果从劣势到节省成本不等。仅在三种疾病中，基于有限的证据质量，全人群基因筛查可能被认为具有成本效益。研究方法的质量各不相同。成本效益主要受突变患病率、基因检测成本、死亡风险、治疗效果、筛查年龄和贴现率的影响。
基因筛查的健康经济证据有限：只有少数疾病得到了恰当评估。基于现有证据，医疗保健决策者应考虑引入针对FAP和HNPCC的选择性基因筛查。随着基因检测成本的下降，现有评估可能需要更新。特别是在遗传性血色素沉着症的情况下，基因人群筛查可能即将从一种劣势干预转变为具有成本效益甚至节省成本的干预。
