HEMOPHILIA 'A' CARRIER TESTING--ACCEPTANCE AND REACTIONS

血友病“A”携带者测试——接受和反应

• 批准号: 2674232
• 负责人: James R. Sorenson
• 金额: $ 21.34万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 1996
• 资助国家: 美国
• 起止时间: 1996-06-01 至 2000-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2674232
• 关键词: adult human (21+); behavioral /social science research tag; clinical research; coagulation factor VIII; family genetics; family structure /dynamics; female; gene mutation; genetic carriers; genetic counseling; genetic disorder diagnosis; health behavior; hemophilia As; human subject; longitudinal human study; psychological tests; questionnaires; social psychology; statistics /biometry

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.

这项研究将（a）描述医学，遗传学和载体知识 和信仰在一个人口的女性亲属的个人与 重症A型血友病前后亲属接受或拒绝 直接突变携带者检测;（B）确定这些妇女的百分比 接受免费考前咨询、检测和随访的人 遗传咨询，并注意他们选择的三种格式之一，为前 测试咨询-单独，与配偶/伴侣，或在一个小组;和 (c)描述他们一个月和六个月的反应， 携带者状况和测试前咨询格式对选定的个人健康 行为和心理社会变量，并描述核和扩展 关于血友病和携带者状态的家庭沟通模式。 为了实现这一目标，该研究将招募480名女性亲属， 患有严重血友病A的人已经或正在接受 随后在北卡罗来纳州大学综合血友病 诊断和治疗中心的人有因子VIII基因突变， 可以通过现有的方法检测到。 该研究采用了 纵向设计 参与的女性亲属将接受采访 在考前咨询之前并将完成自我管理 问卷调查（a）测试前咨询后立即和（B）在 一个月和六个月后收到他们的测试结果，并接受或 拒绝后续遗传咨询。 本研究将采用逻辑 聚类（核心和大家族）样本的回归方法 为了确定谁接受或拒绝考前咨询的预测因素， 携带者检测和后续遗传咨询。 我们会委聘 聚类统计分析技术，分析预处理的影响， 测试咨询格式和个人携带者知识对选定的健康 行为、心理社会变量和家庭内部沟通 血友病的模式 关于接受直接付款的资料很少。 突变携带者检测在女性亲属的个人与 血友病 事实上，没有关于个人的公开研究， 行为和心理社会后遗症，这样的测试，也没有内部 关于血友病和携带者状态的家庭交流模式。 的 本研究收集的信息将有助于缩小这一差距， 研究文献，也将有助于发展 更有经验的临床和公共卫生政策， 用于血友病A的突变携带者检测，特别是用于携带者 X染色体连锁疾病的检测

项目成果

Assessment of a decision aid to assist genetic testing research participants in the informed consent process.

评估决策辅助工具，以协助基因检测研究参与者参与知情同意过程。

• DOI: 10.1089/gte.2004.8.336
• 发表时间: 2004
• 期刊: Genetic testing
• 作者: Sorenson,JR;Lakon,C;Spinney,T;Jennings-Grant,T
• 通讯作者: Jennings-Grant,T