HEMOPHILIA 'A' CARRIER TESTING--ACCEPTANCE AND REACTIONS

这项研究将(A)描述医学、遗传和携带者的知识 以及女性亲属群体中的信念 重度A型血友病患者亲属接受或拒绝前后 直接突变携带者检测；(B)确定这些妇女的百分比 谁接受免费的考试前咨询、测试和后续服务 遗传咨询，并注意他们在PRE的三种形式中选择一种 考试咨询--单独、与配偶/伴侣一起或以小组形式进行；以及 (C)描述他们在了解个人信息后的1个月和6个月的反应 关于选定个人健康的携带者状态和检测前咨询格式 行为和心理社会变量，并描述核心和扩展 血友病和携带者状况的家庭沟通模式。 为了实现这一目标，这项研究将招募480名女性亲属 患有严重血友病A的个人，已经或正在 随后在北卡罗来纳大学的综合血友病 诊断和治疗中心有第VIII因子基因突变的人 可以通过当前可用的方法进行检测。这项研究采用了一种 纵向设计。参与的女性亲属将接受采访 在考试前进行咨询，并将完成自我管理 问卷(A)在考试前咨询后立即进行，以及(B)在 在收到测试结果并接受或 拒绝跟进遗传咨询。这项研究将采用物流 聚类(核心和大家庭)样本的回归方法 为了识别谁接受或拒绝考试前咨询的预测因素， 携带者检测和后续遗传咨询。我们将聘用 用集群统计分析技术分析PRE的影响 关于选定健康的测试咨询形式和个人携带者知识 行为、心理社会变量与家庭内沟通 关于血友病的模式。 关于直接接受的信息很少。 慢性阻塞性肺疾病患者女性亲属的突变携带者检测 血友病。几乎没有发表过关于个人的研究。 这类测试的行为和心理社会后遗症 血友病和携带者状况的家庭沟通模式。这个 这项研究将收集的信息将有助于缩小这一差距 研究文献，并将对开发 更具经验性的临床和公共卫生政策 特别是血友病A的突变携带者检测和携带者检测 检测X连锁障碍的一般情况。

This study will (a) describe the medical, genetic, and carrier knowledge and beliefs in a population of female relatives of individuals with severe type A hemophilia before and after the relatives accept or decline direct mutation carrier testing; (b) identify the percent of these women who accept the offer of free pre test counseling, testing, and followup genetic counseling and note their choice of one of three formats for pre test counseling - individually, with a spouse/partner, or in a group; and (c) describe their one and six months reactions to knowledge of personal carrier status and pre test counseling format on selected personal health behaviors and psychosocial variables, and describe nuclear and extended family communication patterns about hemophilia and carrier status. To accomplish this, the study will enroll 480 female relatives of individuals with severe hemophilia A who have been or are currently being followed at the University of North Carolina Comprehensive Hemophilia Diagnostic and Treatment Center who have a factor VIII gene mutation that can be detected by currently available methods. The study employs a longitudinal design. Participating female relatives will be interviewed before the pre test counseling and will complete self administered questionnaires (a) immediately after the pre test counseling and (b) at one and six months after receiving their test results and accepting or declining follow up genetic counseling. The study will employ logistic regression methods for clustered (nuclear and extended family) samples to identify the predictors of who accepts or rejects pre test counseling, carrier testing and follow-up genetic counseling. We will employ clustered statistical analytic techniques to analyze the impact of pre test counseling format and personal carrier knowledge on selected health behaviors, psychosocial variables, and intra familial communication patterns about hemophilia. There is very little information available on the acceptance of direct mutation carrier testing among the female relatives of individuals with hemophilia. There is virtually no published research on the individual behavioral and psychosocial sequelae to such testing nor on intra familial communication patterns about hemophilia and carrier status. The information to be collected in this study will help to close this gap in the research literature and will also be useful in the development of more empirically informed clinical and public health policies on direct mutation carrier testing for hemophilia A in particular and for carrier testing for X-linked disorders in general.