AN EVALUATION OF TESTING AND COUNSELING FOR CF CARRIERS

本研究(1)比较了两种方法的有效性和成本效益。 囊性纤维化症(CF)携带者筛查安排：一种“局部”筛查， 通过一本CF筛查小册子和一个 私人医生或公共卫生专业人员抽取的血液样本； 和遗传中心筛选，由遗传基因进行预筛选教育 辅导员和临床技术人员抽取的血液样本；(2)评估 一种特别开发的产品的有效性和成本效益 为CF携带者客户提供的早产咨询视频，以改善学习 在咨询方面，增加咨询信息的效用；以及 (3)比较敏感度、特异度、预测性 连接链式反应(LCR)的价值和成本效益 聚合酶链式反应(PCR)突变分析，包括 多重突变检测的增量成本-效果评价 使用基因扫描仪。 为了完成第一项研究，796名CF患者的近亲 会被随机分配到“本地”或遗传中心 屏幕。在收到CF载波测试结果和 再次收到承运人状态结果后，将对受试者进行评估 通过电话采访，在遗传和医学知识方面， 心理状态和选定的健康行为。成本数据将是 为两种CF载体测试安排而开发。 为了完成第二项研究，所有CF携带者遗传咨询客户 将被随机分配到(1)观看咨询前视频 让他们为咨询课程做好准备，找出最常见的 咨询来访者在使用 在咨询中提供的信息；或(2)没有接受特殊的早产 心理咨询准备工作。评估前期咨询的效果 视频对象将通过电话1、6和12进行采访 在咨询之后的几个月。将收集关于CF Genetic和 医学知识、心理状况、使用困难 咨询中提供的信息，以及选定的健康行为。成本 还将收集数据。 为了完成第三项研究，将对以下项目进行LCR和PCR分析 所有研究对象和方法都进行了比较。敏感性，特异性， 并将为每种方法计算预测值。成本信息 将根据LCR和PCR程序和分析以及 多重突变鉴定。 拟议的研究将提供重要的 关于慢性阻塞性肺疾病携带者筛查教育、咨询和 实验室方法。通过对CF患者亲属的研究，设计了 构成一种有效的方法来识别足够数量的 受试者要确保有足够的统计能力。这项研究雇用了两名 随机对照试验，允许进行强有力的因果推断 关于筛选前教育的比较效果 程序和咨询前准备。最后，研究比较了 LCR和PCR突变分析的准确性和成本以及 多重突变分析的成本。综合起来，这些信息应该 有助于开发更有效和更具成本效益的临床 慢性阻塞性肺疾病筛查和咨询的实践和实验室方法 制定关于CF携带者筛查项目的公共卫生政策。

This study (1) compares the effectiveness and cost effectiveness of two cystic fibrosis (CF) carrier screening arrangements: a "local" screen, with prescreening education provided by a CF screening pamphlet and a blood sample drawn by a private physician or public health professional; and a genetic center screen, with prescreening education by a genetic counselor and a blood sample drawn by a clinic technician; (2) assesses the effectiveness and cost-effectiveness of a specially developed pregenetic counseling video for CF carrier clients to improve learning in counseling and to increase the utility of counseling information; and (3) conducts a comparison of the sensitivity, specificity, predictive value, and cost-effectiveness of ligase chain reaction (LCR) with polymerase chain reaction (PCR) mutation analysis, including an incremental cost-effectiveness assessment of multiple mutation detection using the GENE SCANNER. To accomplish the first study, 796 close relatives of patients with CF will be randomly assigned to either the "local" or genetic center screens. Before receiving the results of the CF carrier testing and again after receiving carrier status results, subjects will be assessed via telephone interviews, in terms of genetic and medical knowledge, psychological status and selected health behaviors. Cost data will be developed for both CF carrier testing arrangements. To accomplish the second study, all CF carrier genetic counseling clients will be randomly assigned to either (1) view a precounseling video preparing them for the counseling session and identifying the most common difficulties and solutions counseling clients experience in using the information provided in counseling; or (2) receive no special pregenetic counseling preparation. To evaluate the impact of the precounseling video subjects will be interviewed via telephone one, six and twelve months after counseling. Data will be collected on the CF genetic and medical knowledge, psychological status, difficulties in using the information provided in counseling, and selected health behaviors. Cost data will also be collected. To accomplish the third study, LCR and PCR analyses will be performed on all study subjects and the methods compared. Sensitivity, specificity, and predictive values will be computed for each method. Cost information will be compiled on LCR and PCR procedures and analyses, as well as on multiple mutation identification. The proposed studies will provide much needed information on important issues concerning CF carrier screening education, counseling and laboratory methods. By studying the relatives of CF patients, the design constitutes an efficient means of identifying an adequate number of subjects to assure sufficient statistical power. The study employs two randomized controlled trials, permitting strong causal inference regarding the comparative effectiveness of prescreening education procedures and precounseling preparation. Finally, the study compares the accuracy and costs of LCR and PCR mutation analysis as well as the costs of multiple mutation analysis. Combined, such information should be useful in developing more effective and cost effective clinical practice and laboratory methods for CF screening and counseling and for developing public health policy on CF carrier screening programs.