COMMUNICATING GENETIC TEST RESULTS TO THE FAMILY

分子遗传学的最新进展已经确定了一些与乳腺癌和卵巢癌遗传易感性相关的基因。分离遗传性癌症基因将提供准确的癌症易感性生物标志物，供临床用来确定个人患癌症的风险。在家庭内部分享遗传结果的责任往往落在先证者身上，他们可能没有复杂的遗传背景，也可能缺乏对这一角色的准备。到目前为止，这个问题还没有在传统的遗传咨询模式中得到解决。这项拟议的研究将扩大传统遗传咨询的范围，帮助正在接受BRCA1和/或BRCA2基因突变检测的女性有效地将检测结果传播给家庭成员。具体地说，本研究建议测试有针对性的传播策略，以便在高危家庭中传播和解释基因检测结果。接受基因检测结果的患者将接受标准的教育和咨询方案，并将被随机分配到干预或控制组。干预组中的人将收到一种结构化的六步沟通策略，该策略将为先证者提供将她的基因测试结果传达给她的家人的技能。基于罗伯特·巴克曼工作的沟通策略将帮助先证者决定告诉谁，告诉什么，以及如何告诉家庭成员基因测试信息。这项干预旨在克服态度和感知障碍，有效地与家庭成员分享基因检测结果。我们假设，与单独接受标准遗传咨询的先证者相比，接受沟通指南增强的遗传咨询的先证者在与家人沟通基因测试信息时经历的困难和痛苦较少。此外，我们预计，接受干预的先证者的家庭成员将对收到的信息感到更满意，对遗传风险的理解更多，并更有可能为自己寻求癌症风险咨询。如果有效，该协议将为面临广泛疾病遗传风险的家庭内的风险沟通提供一个模式。

Recent advances in molecular genetics have identified a number of genes associated with inherited susceptibility to breast and ovarian cancer. Isolation of hereditary cancer genes will provide precise biomarkers of cancer susceptibility for clinical use in determining an individual's risk for cancer. The responsibility for sharing genetic results within the family often falls upon the proband who may not have a sophisticated genetic background and may lack preparation for this role. To date, this issue has not been addressed in the traditional genetic counseling model. The proposed study will expand the scope of traditional genetic counseling by helping women who are undergoing testing for mutations in the BRCA1 and/or BRCA2 genes effectively disseminate their test tests to family member. Specifically, this study proposes to test targeted communication strategy for the dissemination and interpretation of genetic test results within high risk families. Individuals receiving genetic test results will receive a standard education and counseling protocol and will be randomized to an intervention or control arm. Those in the intervention group will receive a structured Six-step Communication strategy which will provide the proband with skills for communicating her genetic test results to her family. The communication strategy based on the work of Robert Buckman, will help probands determine who to tell, what to tell and how to tell family members genetic test information. The intervention is designed to overcome attitudinal and perceptual barriers to effectively sharing genetic test results with family members. We hypothesize that probands who receive genetics counseling enhanced by the communication guide will experience less difficulty and distress in communicating genetic test information to their family than those who receive the standard genetic counseling alone. Also, we expect that family members of probands in the intervention arm will experience enhanced satisfaction with the information received, increased comprehension of genetic risk, and will be more likely to seek cancer risk counseling for themselves. If effective, this protocol will provide a model for risk communication within families facing genetic risk for a wide range of diseases.