Communicating Genetic Test Results to the Family

描述：(申请人提供)最近分离的遗传性癌症基因将提供癌症易感性的精确生物标记，供临床用于确定个人患癌症的风险。这些生物标志物是独一无二的，因为它们不仅定义了个人的风险，也定义了他们的家庭成员的风险。我们发现，与其分享基因检测信息的亲属往往不理解检测结果的含义，无法为自己制定适当的风险管理策略。目前的研究直接针对接受信息性BRCA结果的个人的高危亲属，即真阳性或真阴性测试结果，以帮助亲属准备接受和理解遗传信息对他们自己健康的重要性。主要目标是创建、交付和评估一套辅助材料，补充直接从先证者那里收到的信息，以加强遗传风险信息的交流。根据健康行为常识模型，这种补充干预将与护理标准进行比较，在护理标准中，测试结果由接受测试的先证者传达。主要结果衡量标准将包括对共享的遗传风险信息的理解和解释、应对的信心和行为反应。我们选择关注那些检测结果为真阳性或阴性的家庭，因为这些信息可能会对亲属产生直接的临床管理后果，也因为这符合癌症遗传咨询师的使命，即将他们的触角伸向更多有遗传疾病风险的家庭成员。此外，这项工作将提供一个机会来探索一组变量，这些变量可能调节对家庭内共享的信息的理解和反应。我们的直接目标是在一个具有良好特征的环境中测试理论驱动的干预。我们的长期目标是推动癌症传播科学领域的发展，并创建一座桥梁，以制定实践指南，并将最佳实践传播到遗传咨询社区。

DESCRIPTION: (provided by applicant) The recent isolation of hereditary cancer genes will provide precise biomarkers of cancer susceptibility for clinical use in determining an individual's risk for cancer. These biomarkers are unique because they not only define risk for an individual, but for their family members as well. We have found that relatives with whom genetic test information is shared often do not understand the meaning of the test result and are not able to formulate appropriate risk management strategies for themselves. The current study is targeted directly to the at-risk relatives of individuals receiving informative BRCA results, i.e., true positive or true negative test results, to help prepare the relatives to receive and understand the significance of the genetic information for their own health. The main goal is to create, deliver and evaluate a set of support materials that will complement the information received directly from the proband to enhance the communication of genetic risk information. Based on the Common Sense Model of Health Behavior, this complementary intervention will be compared to the standard of care, in which test results are communicated by the proband undergoing testing. Primary outcome measures will include understanding and interpretation, confidence in coping with, and behavioral response to the genetic risk information shared. We have chosen to focus on those families with true positive or negative test results because this information may have immediate clinical management consequences for the relatives, and because it is in keeping with the mission of the cancer genetic counselor to extend their reach to additional family members at risk for an inherited condition. In addition this work will provide an opportunity to explore a set of variables which may mediate the comprehension and response to the information shared within the family. Our immediate goal is to test a theory-driven intervention in a well characterized setting. Our long-term goal is both to advance the field of cancer communication science and to create a bridge to the development of practice guidelines and the diffusion of best practice to the genetic counseling community.