Design and implementation of a randomized controlled trial of genomic counseling for patients with chronic disease.
Design and implementation of a randomized controlled trial of genomic counseling for patients with chronic disease.
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DOI：
10.3390/jpm4010001
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发表时间：
2014-01-08
影响因子：
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通讯作者：
Marsh C
中科院分区：
文献类型：
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作者：
Sweet K;Gordon ES;Sturm AC;Schmidlen TJ;Manickam K;Toland AE;Keller MA;Stack CB;García-España JF;Bellafante M;Tayal N;Embi P;Binkley P;Hershberger RE;Sadee W;Christman M;Marsh C
我们描述了一项随机对照试验的开发和实施，以调查基因咨询对心力衰竭（HF）或高血压（HTN）患者队列的影响，该试验在一个大型学术医疗中心，俄亥俄州州立大学Wexner医学中心（OSUWMC）进行管理。我们的研究是建立在现有的Coriell个性化医学协作（CPMC®）。OSUWMC慢性病（CD）患者参与者通过CPMC®门户网站收到八份可操作的复杂疾病和一份药物基因组学测试报告。参与者被随机分配到亲自测试后的基因组咨询积极臂，与基于网络的结果的唯一回报对照arm. Study特定的调查措施：（1）风险感知的变化;（2）知识保留;（3）感知的个人控制;（4）健康行为的变化;和，对于积极臂（5），基因组咨询的总体满意度。这种持续的伙伴关系促进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建立。这包括创建全面的知情同意文件和流程，以便通过门户网站前瞻性地返回多种复杂疾病和药物基因组学（PGx）的可操作结果，并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。我们介绍了这种伙伴关系，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，以告知后续的合作努力和最佳基因组咨询实践。
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.