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稳步增长，随着更多易感性基因的发现，预计需求将继续增加。传统的、面对面的遗传咨询已被证明在促进知情决策和减少与基因检测相关的不良后果方面是有效的。然而，面对面的遗传咨询的范围和可及性是有限的。这个国家有很大一部分地区没有遗传咨询师。随着现有的成人发病疾病遗传易感性检测方法不断增加，这种缺乏获取途径的情况将进一步恶化。医生没有提供遗传咨询所需的时间和专业知识。因此，需要标准遗传咨询交付模式的替代方案。这些替代方案必须在不牺牲疗效的前提下扩大遗传咨询的范围。迄今为止，很少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。这种咨询已经在商业上可用，但还没有在随机试验中得到严格的评估。因此，在拟议的随机等效试验中，我们将在1248名携带BRCAI或BRCA2突变的概率至少为10%的女性中比较基于电话的遗传咨询和标准的基于临床的遗传咨询。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测试。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/BRCA2基因检测的使用；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的适用性，以解释遗传咨询的有益效果，我们将确定个体患者变量，以调节两种干预措施的效果。

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.