Telephone-Based Genetic Counseling: An Equivalence Trial

描述(申请人提供)：对癌症遗传易感性咨询的需求一直在稳步增加，随着更多易感基因的发现，预计还会继续增加。传统的面对面遗传咨询已被证明在促进知情决策和将与基因测试相关的不良后果降至最低方面是有效的。然而，面对面遗传咨询的覆盖面和可及性是有限的。这个国家有大片地区没有遗传咨询师的服务。随着可用于成人发病疾病的遗传易感性测试的数量继续增加，这种缺乏机会的情况将会恶化。医生没有提供遗传咨询所需的时间或专业知识。因此，需要标准遗传咨询提供模式的替代方案。这样的替代品必须在不牺牲疗效的情况下扩大遗传咨询的覆盖范围。到目前为止，几乎没有研究旨在开发和评估成人遗传服务提供的替代模式。在拟议的同等试验中，我们将评估基于电话的遗传咨询。这样的咨询已经商业化，但还没有在随机试验中进行严格的评估。因此，在拟议的随机等效性试验中，我们将在1248名女性中比较基于电话的遗传咨询和基于临床的标准遗传咨询，这些女性至少有10%的先前携带BRCA1或BRCA2突变的概率。在我们之前的研究中，我们已经为2000多名这样的女性提供了遗传咨询和检测。在渥太华知情决策框架和遗传咨询中心原则的指导下，我们将在以下两个方面对这两组人进行比较：1)BRCA1/BRCA2基因测试的使用情况；2)心理社会、生活质量和知情决策结果。此外，我们将评估渥太华框架在解释遗传咨询的有益效果方面的适用性，我们将确定影响这两种干预措施效果的患者个体变量。

DESCRIPTION (provided by applicant): Demand for genetic susceptibility counseling for cancer has been steadily increasing and is expected to continue to increase as additional susceptibility genes are identified. Traditional, in-person genetic counseling has been shown to be effective at fostering informed decision making and minimizing adverse outcomes associated with genetic testing. However, the reach and accessibility of in-person genetic counseling is limited. There are large areas of the country which are not served by genetic counselors. This lack of access will worsen as the number of available genetic susceptibility tests for adult-onset diseases continues to grow. Physicians do not have the time or expertise required to provide genetic counseling. Thus, alternatives to the standard genetic counseling delivery model are needed. Such alternatives must expand the reach of genetic counseling without sacrificing efficacy. To date, there has been little research aimed at developing and evaluating alternative models of adult genetic service delivery. In the proposed equivalency trial, we will evaluate telephone-based genetic counseling. Such counseling is already commercially available, but has not been rigorously evaluated in a randomized trial. Thus, in the proposed randomized equivalency trial, we will compare telephone-based genetic counseling to standard, clinic-based genetic counseling among 1248 women with at least a 10 percent prior probability of carrying a BRCAI or BRCA2 mutation. In our previous research, we have provided genetic counseling and testing to over 2000 such women. Guided by the Ottawa Framework for Informed Decision Making and the central tenets of genetic counseling, we will compare these two groups on: 1) utilization of BRCAI/BRCA2 genetic testing and 2) psychosocial, quality of life and informed decision making outcomes. In addition, we will evaluate the applicability of the Ottawa Framework for explaining the beneficial effects of genetic counseling and we will identify individual patient variables, which moderate the effect of the two interventions.