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（CF）携带者筛查安排："局部"筛查， 并透过CF筛查小册子和 由私人医生或公共卫生专业人员抽取的血液样本; 和一个遗传中心筛选，由一个遗传学家进行预筛选教育， 咨询师和临床技术人员抽取的血液样本;（2）评估 一个专门开发的有效性和成本效益 为CF携带者提供遗传前咨询视频，以改善学习 咨询和增加咨询信息的效用;以及 (3)进行比较的敏感性，特异性，预测 价值和成本效益的连接酶链反应（LCR）， 聚合酶链反应（PCR）突变分析，包括 多突变检测增量成本效益评估 使用基因扫描仪。 为了完成第一项研究，796名CF患者的近亲 将被随机分配到"本地"或遗传中心 卡位 在收到CF载波测试结果之前， 在收到携带者状态结果后，将再次评估受试者 通过电话采访，在遗传和医学知识方面， 心理状态和选择的健康行为。 成本数据将 为两个CF载波测试安排开发。 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）观看赛前视频 让他们为咨询会议做好准备， 困难和解决方案咨询客户使用 咨询中提供的信息;或（2）没有接受特殊的遗传咨询 咨询准备。 评估预辅导的影响 视频受试者将通过电话1、6和12接受采访。 几个月后咨询。将收集CF遗传数据， 医学知识、心理状况、使用困难 咨询中提供的信息和选定的健康行为。 成本 数据也将被收集。 为了完成第三项研究，将在以下条件下进行LCR和PCR分析： 所有研究对象和方法进行比较。 灵敏度，特异性， 并且将计算每种方法的预测值。 成本信息 将根据LCR和PCR程序和分析以及 多突变鉴定 拟议的研究将提供急需的信息， 关于CF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， 这是一种有效的方法，可以识别足够数量的 以确保足够的统计功效。 该研究使用了两个 随机对照试验，允许强因果推断 关于预筛选教育的相对有效性， 程序和赛前准备。 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 有助于开发更有效和更具成本效益的临床 CF筛查和咨询的实践和实验室方法， 制定CF携带者筛查计划的公共卫生政策。

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.