DISSEMINATION OF A BRCAL PREDISPOSITION TESTING PROGRAM

描述：(摘自申请人的摘要)BRCA1的克隆是 预计将允许快速和广泛地进行测试 乳腺癌和卵巢癌易感性的标记物，可能在 无论是公众还是临床社区都做好了使用的最佳准备 为了获得最大利益的信息。我们提议进行一次演示 我们将评估易感性测试计划的项目 紧密仿照亨廷顿病范例为 以前发现癌症易感性的家庭 与BRCA1连锁的后验概率为90%。尽管我们预计 在项目之前或期间克隆BRCA1，我们将限制 由于相关家庭成员的限制，参与者 已从链接中派生的可用风险信息 仅限家庭。在这个项目中，我们将开发、实施和评估 我们将培训和监督遗传顾问和 护士应对以下人员进行考前教育和信息披露咨询 BRCA1对当地有关联的家庭成员的易感性 社区。我们将观察基因对社会心理的影响 在这些成员中检测乳腺癌和卵巢癌的风险 BRCA1链接族。我们将描述参与的影响 关于生活质量和生活质量的易感性测试计划 癌症风险管理健康行为。我们还将提供一个 对女性卫生服务提供者的教育干预 亲属对医疗管理和遗传隐私的影响 ，并将评估干预措施的影响 关于提供商的知识和风险管理建议。

DESCRIPTION: (From the applicant's abstract) The cloning of BRCA1 is expected to permit rapid and widespread availability of testing for a marker of breast and ovarian cancer susceptibility, perhaps before either the public or clinical communities are optimally prepared to use the information for greatest benefit. We propose a demonstration project in which we will evaluate a predisposition testing program modeled closely on the Huntington Disease paradigm for members of families previously identified in which cancer susceptibility has been linked to BRCA1 with posterior probability >90%. Although we anticipate the cloning of BRCA1 before or during the project, we will restrict participants to members of linked families because of the limitations of available risk information which has been derived from linked families only. In this project, we will develop, implement and evaluate a program in which we will train and supervise genetic counselors and nurses to administer pretest education and disclosure counseling for BRCA1 susceptibility to members of linked families in their local communities. We will observe the psychosocial effects of genetic testing for risk of breast and ovarian cancers in members of these BRCA1-linked families. We will describe the impact of participation in a predisposition testing program with regard to quality of life and cancer risk management health behaviors. We will also provide an educational intervention to the health care providers of female relatives regarding medical management and genetic privacy implications of heritable cancer risks, and will assess the impact of the intervention on provider knowledge and recommendations for risk management.