title: Design and implementation of a randomized controlled trial of genomic counseling for patients with chronic disease.
abstract: 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.
authors.affiliation: 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.
authors.forename: Kevin
authors.initials: K
authors.lastname: Sweet
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA ; Invitae, 458 Brannan Street, San Francisco, CA 94107, USA.
authors.forename: Erynn S
authors.initials: ES
authors.lastname: Gordon
authors.affiliation: 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.
authors.forename: Amy C
authors.initials: AC
authors.lastname: Sturm
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA.
authors.forename: Tara J
authors.initials: TJ
authors.lastname: Schmidlen
authors.affiliation: 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.
authors.forename: Kandamurugu
authors.initials: K
authors.lastname: Manickam
authors.affiliation: Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH 43420, USA.
authors.forename: Amanda Ewart
authors.initials: AE
authors.lastname: Toland
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA ; American Red Cross, 700 Spring Garden Street, Philadelphia, PA 19123, USA.
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Keller
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA ; American College of Physicians, 190 N. Independence Mall West, Philadelphia, PA 19106, USA.
authors.forename: Catharine B
authors.initials: CB
authors.lastname: Stack
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA.
authors.forename: J Felipe
authors.initials: JF
authors.lastname: García-España
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA.
authors.forename: Mark
authors.initials: M
authors.lastname: Bellafante
authors.affiliation: Department of Internal Medicine, Ohio State University College of Medicine, Columbus, OH 43420, USA; Neeraj.Tayal@osumc.edu.
authors.forename: Neeraj
authors.initials: N
authors.lastname: Tayal
authors.affiliation: Department of Bioinformatics, Ohio State University College of Medicine, Columbus, OH 43420, USA; Peter.Embi@osumc.edu.
authors.forename: Peter
authors.initials: P
authors.lastname: Embi
authors.affiliation: Division of Cardiovascular Medicine, Ohio State University College of Medicine, Columbus, OH 43420, USA.
authors.forename: Philip
authors.initials: P
authors.lastname: Binkley
authors.affiliation: Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH 43420, USA ; Division of Cardiovascular Medicine, Ohio State University College of Medicine, Columbus, OH 43420, USA.
authors.forename: Ray E
authors.initials: RE
authors.lastname: Hershberger
authors.affiliation: Program in Pharmacogenomics, Department of Pharmacology, The Ohio State University College of Medicine, Columbus, OH 43420, USA; Wolfgang.Sadee@osumc.edu.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sadee
authors.affiliation: Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Christman
authors.affiliation: Center for Personalized Health Care, Ohio State University Wexner Medical Center, Columbus, OH 43420, USA.
authors.forename: Clay
authors.initials: C
authors.lastname: Marsh
keywords: actionable; counseling; genomics; implementation; medicine; patients; pharmacogenomics; randomized; risk perception