Noorani H Z, Khan H N, Gallie B L, Detsky A S
Joint Centre for Bioethics and School of Continuing Studies, University of Toronto, Ontario, Canada.
Am J Hum Genet. 1996 Aug;59(2):301-7.
To compare costs of molecular and conventional screening of retinoblastoma relatives, we evaluated the direct health care costs. With variables set at the most likely values (baseline), the expected cost (in 1994 Canadian dollars) of conventional screening was $31,430 for a prototype family consisting of seven at-risk relatives (three clinic exams and eight examinations under anaesthetic over the first 3 years of life for each relative). For the molecular strategy that involves looking for the RB1 gene mutation in the proband, testing the relatives for that mutation, and clinical follow-up similar to conventional strategy for relatives with mutation, the expected cost was $8,674, using baseline variables. Sensitivity analysis over the range of values for each variable revealed a significant saving of health care dollars by the molecular route, indicating the benefit of redirecting economic resources to molecular diagnosis in retinoblastoma.
为比较视网膜母细胞瘤亲属分子筛查与传统筛查的成本，我们评估了直接医疗保健成本。将变量设定为最可能的值（基线）时，一个由七名高危亲属组成的典型家庭（每位亲属在生命的头3年进行3次门诊检查和8次麻醉下检查）的传统筛查预期成本（以1994年加拿大元计）为31,430加元。对于涉及先证者RB1基因突变检测、亲属该基因突变检测以及对有突变亲属进行与传统策略类似的临床随访的分子策略，使用基线变量时预期成本为8,674加元。对每个变量的值范围进行敏感性分析表明，分子筛查途径可显著节省医疗保健费用，这表明将经济资源重新导向视网膜母细胞瘤的分子诊断具有益处。
