PRESCRIPTIVE DECISION MODELING/CYSTIC FIBROSIS SCREEN

该项目的目标是指导卫生政策的制定 关于最佳利用基因筛选试验， 囊性纤维化（CF）的携带者。 这些政策应基于 各种筛查策略实现临床目标的能力，以及 经济，社会和心理成本， 实现这些目标的战略。 该项目将阐明 不同临床策略所需的权衡，以便 塑造公共政策。 本项目将通过使用决策来实现这些目标 CF载体筛选方案的主要替代方案模型。 的 在这个项目中开发的决策模型将被设计为回答 以下具体问题：[1] CF携带者筛查是否应针对 仅针对deltaF 508突变，还是针对其他已知突变 也是吗？ [2]是否应该对伴侣双方进行携带者筛查， 几个还是一个 [3]如果对伴侣双方进行，应 携带者筛查应平行进行，双方应在 同时进行测试，或者应该串联进行， 第二个伙伴只测试了第一个伙伴的某些测试结果 伙伴？ [4]进一步测试的最佳过程和顺序是什么 和治疗后的替代载体筛选结果？ [五]《中国日报》 过去接受过CF突变筛查的个体是否应该 随着更多的突变被发现而被重新筛选 [6]是什么 未来技术创新在检测中的预期影响 CF携带者，产前诊断，或在CF的治疗？ [7]什么 货币效应和非货币效应之间的权衡是另一种选择 这些问题的答案意味着什么？ [8]这些问题的答案 患者、医疗保健提供者和保险公司之间的问题各不相同 公司，谁有不同的财务，心理，和道德 前景？ 不同的载体筛选策略将根据其 对政策决定至关重要的四个结果的影响， made：第一个结果是导致CF出生的数量; 第二个结果是未受影响的出生人数;第三个结果是 结果是导致终止妊娠的数量;第四个 结果是该计划的美元成本。 不同的战略将 对这四个结果都有不同的影响。 的决定 我们建立的模型将帮助我们理解这些权衡， 可以做出明智的选择。 许多遗传疾病的筛查策略面临着类似的权衡： 我们应该筛查许多突变，还是只筛查最常见的突变？ 我们应该 筛选一对伴侣中的两个还是一个 CF载波筛选 代表了这个问题的一个当前和生动的例子，但许多其他 遗传疾病也会引起类似的问题。 这个项目将帮助我们 了解这些权衡对CF的影响，以及 许多其他遗传疾病可能会增加 由于人类基因组计划的进展而受到关注。

The goal of this project is to guide the development of health policy regarding the optimal use of genetic screening tests designed to detect carriers of cystic fibrosis (CF). These policies should be based on the ability of various screening strategies to achieve clinical goals, and on the economic, social, and psychologic costs incurred by these strategies in accomplishing those goals. This project will illuminate the tradeoffs required by the different clinical strategies in order to shape public policy. This project will accomplish these goals through the use of a decision model of the main alternatives for CF carrier screening programs. The decision model developed in this project will be designed to answer the following specific questions: [1] Should CF carrier screening target the deltaF508 mutation only, or should it target other known mutations as well? [2] Should carrier screening be performed on both partners in a couple, or just one? [3] If performed on both partners, should carrier screening be performed in parallel, with both partners in a couple tested simultaneously, or should it be performed in series, with the second partner tested only for certain test results from the first partner? [4] What is the best course and sequence of further testing and treatment following alternative carrier screening results? [5] Should individuals who have been screened in the past for CF mutations be rescreened as more mutations are uncovered? [6] What is the anticipated impact of future technologic innovation in the detection of CF carriers, in prenatal diagnosis, or in the treatment of CF? [7] What tradeoffs between monetary and nonmonetary effects do the alternative answers to these questions imply? [8] How will the answers to these questions differ among patients, health care providers, and insurance companies, who have different financial, psychologic, and moral perspectives? Different carrier screening strategies will be judged according to their effects on four outcomes central to the policy decisions that need to be made: The first outcome is the number of CF births that result; the second outcome is the number of unaffected births that result; the third outcome is the number of pregnancy terminations that result; the fourth outcome is the dollar cost of the program. Different strategies will have different impacts on each of these four outcomes. The decision model we build will help us understand these tradeoffs so policy makers can make informed choices. Screening strategies for many genetic diseases face similar tradeoffs: Should we screen for many mutations, or just the most common? Should we screen both partners in a couple, or just one? CF carrier screening represents a current and vivid example of this problem, but many other genetic disease will raise similar questions. This project will help us to understand the implications of these tradeoffs for CF, as well as for many other genetic conditions that are likely to receive increasing attention because of advances stemming from the Human Genome Project.