Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH 43420, USA ; Center for Personalized Health Care, Ohio State University Wexner Medical Center, Columbus, OH 43420, USA.
Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA ; Invitae, 458 Brannan Street, San Francisco, CA 94107, USA.
J Pers Med. 2014 Jan 8;4(1):1-19. doi: 10.3390/jpm4010001.
We describe the development and implementation of a randomized controlled trial to investigate the impact of genomic counseling on a cohort of patients with heart failure (HF) or hypertension (HTN), managed at a large academic medical center, the Ohio State University Wexner Medical Center (OSUWMC). Our study is built upon the existing Coriell Personalized Medicine Collaborative (CPMC®). OSUWMC patient participants with chronic disease (CD) receive eight actionable complex disease and one pharmacogenomic test report through the CPMC® web portal. Participants are randomized to either the in-person post-test genomic counseling-active arm, versus web-based only return of results-control arm. Study-specific surveys measure: (1) change in risk perception; (2) knowledge retention; (3) perceived personal control; (4) health behavior change; and, for the active arm (5), overall satisfaction with genomic counseling. This ongoing partnership has spurred creation of both infrastructure and procedures necessary for the implementation of genomics and genomic counseling in clinical care and clinical research. This included creation of a comprehensive informed consent document and processes for prospective return of actionable results for multiple complex diseases and pharmacogenomics (PGx) through a web portal, and integration of genomic data files and clinical decision support into an EPIC-based electronic medical record. We present this partnership, the infrastructure, genomic counseling approach, and the challenges that arose in the design and conduct of this ongoing trial to inform subsequent collaborative efforts and best genomic counseling practices.
我们描述了一项随机对照试验的开发和实施情况，该试验旨在研究基因组咨询对在大型学术医疗中心俄亥俄州立大学韦克斯纳医学中心（OSUWMC）管理的心力衰竭（HF）或高血压（HTN）患者队列的影响。我们的研究建立在现有的科里尔个性化医学协作组织（CPMC®）之上。OSUWMC 患有慢性病（CD）的患者通过 CPMC®网络门户获得八项可操作的复杂疾病和一项药物基因组学测试报告。参与者被随机分配到面对面的测试后基因组咨询主动臂，或仅通过网络返回结果的对照组。研究特定的调查衡量：（1）风险感知的变化；（2）知识保留；（3）感知的个人控制；（4）健康行为的改变；以及对于主动臂（5），对基因组咨询的总体满意度。这种持续的合作关系激发了在临床护理和临床研究中实施基因组学和基因组咨询所需的基础设施和程序的创建。这包括创建一份全面的知情同意文件，并通过网络门户为多种复杂疾病和药物基因组学（PGx）的可操作结果的前瞻性返回创建流程，以及将基因组数据文件和临床决策支持整合到基于 EPIC 的电子病历中。我们介绍了这种合作关系、基础设施、基因组咨询方法，以及在设计和进行这项正在进行的试验中出现的挑战，以告知随后的合作努力和最佳基因组咨询实践。
