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 越来越多的患者寻求遗传咨询和检测，以进行基因组引导的医疗管理。 迫切需要重新审查遗传咨询过程，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测试前的遗传咨询预约，然后再进行一次简短的咨询 结果。强调考试前的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有胎儿风险的产前检查一起进行 损失。几乎没有证据表明，这种方法在当今是最佳的。改变主要的遗传咨询师-患者 从劳动密集型、重复性、普遍性的考前咨询转向注重结果的量身定做的考后辅导 测试咨询具有改善患者结局和遗传咨询效率的潜力。研究 建议采用其他模式，而不是由遗传咨询师进行一对一遗传咨询，以实现足够的预 应试教育。我们最近为普通民众制作了有效的遗传学教育视频。 而且很吸引人。在一项初步研究中，我们发现测试前和测试后的遗传咨询对致心律失常的作用 心肌病导致患者赋权的类似增加，以及测试后咨询减少 心脏焦虑症更多。此外，遗传信息本身对促使行为改变几乎没有作用，这表明 测试后咨询的作用是激活行为反应。我们提出了一个三臂随机临床试验。 对两种互补的方法进行评估的试验，这些方法将主要遗传咨询会话转移到后测试 有两种心血管遗传咨询适应症的成年人：小组测试和特定于家庭的变量 测试。我们会将常规护理(检测前的遗传咨询预约、电话返回的结果)与 使用可选的(高效臂)或必需的(翻转臂)手机进行在线视频测试前遗传教育 打电话给遗传咨询师，然后预约测试后的遗传咨询。一只介入臂是 设计为最大限度地提高效率，只需一名遗传顾问与患者在测试后进行交互 考试前咨询主要通过视频进行。另一个保留了测试前和测试后的遗传咨询师-患者 互动(一次预约，一次电话)。这种方法将使我们能够准确地确定 每个人。我们假设测试后的遗传咨询将：1)提高效率，2)促进患者 赋权和坚持，以及3)有类似的心理社会影响。我们的研究还将产生一种基因 咨询指征研究不足的咨询证据基础。我们的结果有可能改变 寻求基因组引导的有效医疗管理的成人标准遗传咨询模式 后测模型。我们的多学科团队由具有丰富识别经验的遗传顾问领导 和克服遗传咨询过程中的挑战，并包括具有必要的 在临床试验、统计分析和生物信息学方面的方法专长，以开展这项研究。

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.