Telephone-Based Genetic Counseling: An Equivalence Trial

描述（由申请人提供）：对癌症遗传易感性咨询的需求一直在稳步增长，并预计将继续增加，因为其他易感基因被确定。传统的，面对面的遗传咨询已被证明是有效的，在促进知情的决策和最大限度地减少与基因检测相关的不良后果。然而，面对面遗传咨询的范围和可及性是有限的。全国有很大一部分地区没有遗传咨询师。由于现有的成人发病遗传易感性测试数量继续增加，这种缺乏机会的情况将更加严重。医生没有时间或专业知识提供遗传咨询。因此，需要标准遗传咨询提供模式的替代方案。这些替代方案必须在不牺牲疗效的情况下扩大遗传咨询的范围。迄今为止，几乎没有针对开发和评估成人遗传服务提供替代模式的研究。在拟议的等效试验中，我们将评估基于电话的遗传咨询。这种咨询已经在市场上销售，但尚未在随机试验中进行严格评估。因此，在拟议的随机等效试验中，我们将在1248名先前携带BRCA 1或BRCA 2突变概率至少为10%的女性中比较基于电话的遗传咨询与标准的基于诊所的遗传咨询。在我们以前的研究中，我们已经为2000多名这样的妇女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，我们将比较这两组：1）BRCAI/BRCA 2基因检测的利用率和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解释遗传咨询的有益影响的适用性，我们将确定个体患者变量，这两种干预措施的效果适度。

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.