Assessing the utility of genomic counseling for common complex diseases

描述(申请人提供)：本申请旨在通过基因组咨询更好地了解正在接受基因组测试的患者在理解对基因组信息的适应方面的需求。通过俄亥俄州立大学医学中心和科里尔研究所的个性化医学合作计划之间的现有合作关系，已有5000多名参与者参加了两项旨在评估个性化医疗效用的研究。这两项研究(父母研究1-社区队列；父母研究2-慢性病队列)涉及基因分型，并将八种健康状况的基因组结果和一种药物基因组结果直接传递给参与者。这种现有的研究合作为实现以下研究目标提供了基础设施和患者群体。具体目标1：通过半结构化的参与者访谈，探索希望在基因组咨询会议上优化患者理解和授权的关键要素，以获得多元化的遗传和药物基因组结果。在现有的两项父母研究的框架内，我们将收集60名研究参与者对当前遗传咨询方法(电话和面对面)的反馈。通过电话访谈，我们将评估1)对基因组咨询的感知需求；2)寻求或不寻求基因组咨询的原因；2)基因组咨询的感知障碍；3)基因组咨询的感知效用；4)对基因组咨询的期望；5)以前对基因组咨询的经验和熟悉程度；以及6)对帮助解释基因组信息的替代医疗提供者的偏好。这些访谈还将提供关于这一背景下基因组咨询的内容和形式的关键问题的见解。具体目标2：根据目标1收集的数据开发一个基因组咨询服务提供模式。一个具有遗传咨询经验的多学科专家团队以及对不同遗传教育方法的开发和评估将领导这一新模式的发展。具体目标3：评估新的基因组咨询交付模式(在目标2中开发)与传统GC模型和常规护理(不咨询)在结果理解、知识保留、感知个人控制和满意度方面的影响。我们将对120名患者(40名随机接受基因组咨询；40名随机接受传统遗传咨询；40名随机接受不咨询)进行调查。生成的数据将为我们建议的模型的可接受性和可行性提供洞察，并将被用作计划未来研究的基础，以评估这一新的基因组咨询模型的实用性。这项拟议的研究是将基因组信息整合到医疗保健系统中的关键一步。遗传咨询师是促进基因组信息在医学中使用的天然人选；然而，必须进行其他研究，例如那些建议的研究，以了解如何在这一新兴领域最好地利用遗传咨询服务。

DESCRIPTION (provided by applicant): This application seeks to better understand the needs of patients undergoing genomic testing with respect to the understanding of an adaptation to genomic information through genomic counseling. Through an existing partnership between the Ohio State University Medical Center and the Coriell Institute's Personalized Medicine Collaborative, over 5000 participants have been enrolled in two studies aimed at evaluating the utility of personalized medicine. Both studies (parent study 1 - community cohort; parent study 2 - chronic disease cohort) involve genotyping and conveying genomic results for eight health conditions and one pharmacogenomic result directly to participants. This existing research collaboration provides the infrastructure and patient population to execute the following Study Aims. Specific Aim 1: To explore, through semi-structured participant interviews, the key elements desired to optimize patient understanding and empowerment in a genomic counseling session for multiplexed genetic and pharmacogenomic results. Working within the structure of the two existing Parent studies, we will gather feedback on current genetic counseling approaches (phone and in-person) on 60 study participants. Through phone interview, we will assess 1) perceived need for genomic counseling; 2) reasons for pursuing or not pursuing genomic counseling; 2) perceived barriers to genomic counseling 3) perceived utility of genomic counseling, 4) expectations of genomic counseling, 5) previous experience and familiarity with genomic counseling, and 6) preferences for alternative medical providers to assist with the interpretation of genomic information. These interviews will also provide insights on key issues regarding both the content and format of genomic counseling in this context. Specific Aim 2: To develop a genomic counseling service delivery model based on the data collected in Aim 1. A multidisciplinary team of experts with experience in genetic counseling and the development and evaluation of different methods of genetic education will lead the development of this new model. Specific Aim 3: To evaluate the impact of the novel genomic counseling delivery model (developed in Aim 2) compared to a traditional GC model and usual care (no counseling) on result comprehension, knowledge retention, perceived personal control, and satisfaction. We will survey 120 patients (40 randomized to genomic counseling; 40 randomized to traditional genetic counseling; 40 randomized to no counseling) on the outcomes of interest. Data generated will provide insight into the acceptability and feasibility of our proposed model and wil be used as a basis for planning future studies to evaluate the utility of this novel genomic counseling model. The proposed study is an essential step in the integration of genomic information into the healthcare system. Genetic counselors are a natural fit to facilitate the use of genomic information in medicine; however additional studies, such as those proposed must be done to understand how to best utilize genetic counseling services in this emerging field.