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。遗传性癌症基因的分离将提供癌症易感性的精确生物标志物，用于临床确定个体患癌症的风险。在家庭中分享遗传结果的责任往往福尔斯在先证者身上，他们可能没有复杂的遗传背景，也可能缺乏承担这一角色的准备。到目前为止，这个问题在传统的遗传咨询模式中还没有得到解决。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BRCA 1和/或BRCA 2基因突变检测的妇女有效地将检测结果传播给家庭成员。具体而言，本研究建议测试有针对性的传播策略和解释的基因检测结果在高风险的家庭。接受基因检测结果的个人将接受标准的教育和咨询方案，并将被随机分配到干预组或对照组。干预组的人将接受结构化的六步沟通策略，该策略将为先证者提供将其基因检测结果传达给家人的技能。基于Robert Buckman工作的沟通策略将帮助先证者确定告诉谁，告诉什么以及如何告诉家庭成员基因检测信息。该干预措施旨在克服态度和感知障碍，以有效地与家庭成员分享基因检测结果。我们假设，先证者接受遗传咨询加强沟通指南将经历更少的困难和痛苦，在沟通基因检测信息，他们的家人比那些谁接受标准的遗传咨询单独。此外，我们预计干预组先证者的家庭成员对所收到的信息的满意度会提高，对遗传风险的理解会增加，并且更有可能为自己寻求癌症风险咨询。如果有效，该协议将为面临各种疾病遗传风险的家庭提供风险沟通模式。

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.