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

Kevin Sweet,Amanda Toland,Margaret Keller,Philip Binkley,Wolfgang Sadee,Tara Schmidlen,Erynn Gordon,J Felipe García-España,Neeraj Tayal,Catharine Stack,Kandamurugu Manickam,Michael Christman,Ray Hershberger,Mark Bellafante,Peter Embi,Amy Sturm,Clay Marsh

doi:10.3390/jpm4010001

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.

Highlights

Genomic technologies are increasingly being utilized in the clinical setting and are expected to transform personalized approaches to medicine over the decade
In this report we detail the design and implementation of a prospective randomized controlled trial to investigate the impact of in-person genomic counseling in the return of actionable genomic information for complex disease and pharmacogenomics
Patients with chronic disease managed in an academic medical center received genomic results through the CPMC®-Coriell web-portal, and were randomized to additional in-person post-test genomic counseling versus only the web-based return of results

Summary

Introduction

Genomic technologies are increasingly being utilized in the clinical setting and are expected to transform personalized approaches to medicine over the decade. When genomic biomarkers are coupled with clinical information, family history, lifestyle, and other environmental factors, more informed predictions about risks for rare and common disease and response to therapeutics can be provided [1]. While personalized medicine is still in the early stages of development, a number of academic medical centers and integrated health systems have already begun to use discrete genomic data for personalized clinical care [2,3,4]. It is imperative to evaluate diverse populations of patients with chronic disease (CD), their understanding and response to actionable genomic risk information, related to and beyond their diagnosis, and to develop optimal methods for information delivery [10,11,12,13]

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Discussion

Conclusion