Design and Implementation of a Randomized Controlled Trial of Genomic Counseling for Patients with Chronic Disease

Journal of Personalized Medicine

Kevin Sweet²  Erynn S. Gordon⁴  Amy C. Sturm²  Tara J. Schmidlen⁴  Kandamurugu Manickam²  Amanda Ewart Toland²  Margaret A. Keller⁴  Catharine B. Stack⁴  J. Felipe Garc໚-Espa༚⁴  Mark Bellafante⁴  Neeraj Tayal¹  Peter Embi⁵  Philip Binkley³  Ray E. Hershberger²  Wolfgang Sadee⁶  Michael Christman⁴ 

[1] Department of Internal Medicine, Ohio State University College of Medicine, Columbus, OH 43420, USA; E-Mail:;Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH 43420, USA; E-Mails:;Division of Cardiovascular Medicine, Ohio State University College of Medicine, Columbus, OH 43420, USA; E-Mail:;Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA; E-Mails:;Department of Bioinformatics, Ohio State University College of Medicine, Columbus, OH 43420, USA; E-Mail:;Program in Pharmacogenomics, Department of Pharmacology, The Ohio State University College of Medicine, Columbus, OH 43420, USA; E-Mail:

关键词: implementation;    genomics;    medicine;    randomized;    patients;    counseling;    actionable;    risk perception;    pharmacogenomics;   

DOI  :  10.3390/jpm4010001

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.