Randomized clinical trial of the sequence of genetic counseling and testing to optimize efficiency, patient empowerment and engagement, and medical adherence for diverse genetic testing indications

项目摘要 患者越来越多地寻求遗传咨询和检测，以进行基因组指导的医疗管理。 迫切需要重新审视遗传咨询过程，以满足这一日益增长的需求。遗传 咨询的标准做法是先进行一次测试前的遗传咨询预约，然后进行一次简短的咨询， 结果强调考前咨询，以促进决策出现了早期的模式， 亨廷顿病检测和基因检测与产前程序结合进行，有胎儿风险 损失没有什么证据表明这种方法在今天是最佳的。转变主要遗传咨询师-患者 互动从劳动密集型，重复性，普遍的考前咨询，以结果为中心，量身定制的后， 测试咨询有可能改善患者的结果和遗传咨询的效率。研究 建议除了由遗传咨询师进行一对一遗传咨询之外， 测试教育。我们最近为普通人群开发了教育遗传学视频， 和参与。在一项初步研究中，我们发现， 心肌病导致类似的增加，病人的授权和测试后咨询减少 心脏焦虑更多。此外，遗传信息本身对促进行为改变几乎没有作用，这表明 测试后咨询的作用，以激活行为反应。我们提出了一个三臂随机临床试验， 试验评估两种互补的方法，以改变主要的遗传咨询会议后测试， 有两种广泛的心血管遗传咨询指征的成年人：小组测试和家族特异性变异 试验.我们将比较常规护理（预测试遗传咨询预约，通过电话返回结果）与 基于在线视频的测试前遗传教育，可选（效率臂）或必需（翻转臂）电话 打电话给遗传咨询师，然后进行测试后的遗传咨询预约。一个干预组是 旨在最大限度地提高效率，只需要一个单一的遗传咨询师-患者互动后测试， 考前辅导主要是通过视频。另一个保留了测试前和测试后的遗传咨询师-患者 互动（一个预约，一个电话）。这种方法将使我们能够准确地确定 每个.我们假设，检测后遗传咨询将：1）提高效率，2）促进患者 授权和坚持，和3）有类似的心理社会影响。我们的研究还将产生一种基因 咨询证据基础研究不足的咨询适应症。我们的研究结果有可能改变 为寻求基因组指导的医疗管理的成年人提供标准遗传咨询模型，以实现高效 后测模型我们的多学科团队由具有丰富识别经验的遗传咨询师领导 并克服遗传咨询过程中的挑战，包括科学家与必要的 临床试验、统计分析和生物信息学方面的方法学专业知识来开展这项研究。

Project Summary Patients are increasingly seeking genetic counseling and testing for genome-guided medical management. There is an urgent need to re-examine the genetic counseling process to meet this growing demand. Genetic counseling standard practice is a pre-test genetic counseling appointment followed by a short session to return results. An emphasis on pre-test counseling to facilitate decision-making emerged with early models for Huntington disease testing and genetic testing done in conjunction with prenatal procedures with risk of fetal loss. There is little evidence this approach is optimal today. Shifting the primary genetic counselor-patient interaction away from labor-intensive, repetitive, universal pre-test counseling to results-focused, tailored post- test counseling has the potential to improve both patient outcomes and genetic counseling efficiency. Studies suggest models other than one-to-one genetic counseling by a genetic counselor can achieve adequate pre- test education. We recently developed educational genetics videos for the general population that are effective and engaging. In a pilot study we found pre- and post-test genetic counseling for arrhythmogenic cardiomyopathy led to similar increases in patient's empowerment and that post-test counseling reduced cardiac anxiety more. Furthermore, genetic information alone does little to prompt behavior change, suggesting a role for post-test counseling to activate behavioral responses. We propose a three-arm randomized clinical trial to evaluate two complementary approaches to shifting the primary genetic counseling session post-test for adults with two broad cardiovascular genetic counseling indications: panel testing and family-specific variant testing. We will compare usual care (pre-test genetic counseling appointment, results returned by phone) with online video-based pre-test genetic education with an optional (efficiency arm) or required (flipped arm) phone call with a genetic counselor followed by a post-test genetic counseling appointment. One intervention arm is designed to maximize efficiency by requiring only a single genetic counselor-patient interaction post-test with pre-test counseling primarily by video. The other retains both a pre- and post-test genetic counselor-patient interaction (one appointment, one phone call). This approach will allow us to pinpoint the tradeoffs involved in each. We hypothesize that post-test genetic counseling will: 1) increase efficiency, 2) promote patient empowerment and adherence, and 3) have similar psychosocial impact. Our study will also generate a genetic counseling evidence base for understudied counseling indications. Our results have the potential to change the standard genetic counseling model for adults seeking genome-guided medical management to an efficient post-test model. Our multidisciplinary team is led by genetic counselors with substantial experience identifying and overcoming challenges in the genetic counseling process and includes scientists with the necessary methodological expertise in clinical trials, statistical analysis, and bioinformatics to carry out this study.