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Open Access Study protocol

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

Jason L Vassy13, Denise M Lautenbach3, Heather M McLaughlin45, Sek Won Kong67, Kurt D Christensen23, Joel Krier37, Isaac S Kohane8, Lindsay Z Feuerman9, Jennifer Blumenthal-Barby9, J Scott Roberts10, Lisa Soleymani Lehmann11, Carolyn Y Ho12, Peter A Ubel13, Calum A MacRae123, Christine E Seidman1214, Michael F Murray15, Amy L McGuire9, Heidi L Rehm45, Robert C Green16* and for the MedSeq Project

Author Affiliations

1 Section of General Internal Medicine, VA Boston Healthcare System, 150 S Huntington Ave, Boston, MA 02130, USA

2 Department of Medicine, Harvard Medical School, 150 South Huntington Avenue 152G, Boston, MA 02130, USA

3 Division of Genetics, Department of Medicine, Brigham and Women’s Hospital, 41 Avenue Louis Pasteur, Suite 301, Boston, MA 02115, USA

4 Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, 65 Landsdowne St., Cambridge, MA 02139, USA

5 Department of Pathology, Brigham & Women’s Hospital and Harvard Medical School, 75 Francis St, Boston, MA 02115, USA

6 Department of Medicine, Boston Children’s Hospital, 300 Longwood Ave, EN137, Boston, MA 02115, USA

7 Department of Pediatrics, Harvard Medical School, 41 Avenue Louis Pasteur, Suite 301, Boston, MA 02115, USA

8 Center for Biomedical Informatics & Department of Pediatrics, Harvard Medical School, 300 Longwood Ave, Enders-6, Boston, MA 02115, USA

9 Center for Medical Ethics and Health Policy, Baylor College of Medicine, BCM-Jewish Institute for Research, Houston, TX 77030, USA

10 Department of Health Behavior & Health Education at University of Michigan School of Public Health, 109 S. Observatory, SPH I Building, Room 3854, Ann Arbor, MI 48109, USA

11 Center for Bioethics, Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, 1620 Tremont Street, Suite 03-002, Room BC3-2G, Boston, MA 02120, USA

12 Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women’s Hospital, 75 Francis St., Boston, MA 02115, USA

13 Fuqua School of Business, Duke University, 100 Fuqua Drive, Durham, NC 27708, USA

14 Department of Genetics, Harvard Medical School, NRB-room 256 77 Avenue Louis Pasteur, Boston, MA 02115, USA

15 Genomic Medicine Institute, Geisinger Health System, 1000 East Mountain Drive, Wilkes Barre, PA 18711, USA

16 Genomes2People and Division of Genetics, Department of Medicine, Brigham and Women’s Hospital, Broad Institute and Harvard Medical School, 41 Avenue Louis Pasteur, Suite 301, 02115 Boston, MA, USA

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Trials 2014, 15:85  doi:10.1186/1745-6215-15-85

Published: 20 March 2014

Abstract

Background

Whole genome sequencing (WGS) is already being used in certain clinical and research settings, but its impact on patient well-being, health-care utilization, and clinical decision-making remains largely unstudied. It is also unknown how best to communicate sequencing results to physicians and patients to improve health. We describe the design of the MedSeq Project: the first randomized trials of WGS in clinical care.

Methods/Design

This pair of randomized controlled trials compares WGS to standard of care in two clinical contexts: (a) disease-specific genomic medicine in a cardiomyopathy clinic and (b) general genomic medicine in primary care. We are recruiting 8 to 12 cardiologists, 8 to 12 primary care physicians, and approximately 200 of their patients. Patient participants in both the cardiology and primary care trials are randomly assigned to receive a family history assessment with or without WGS. Our laboratory delivers a genome report to physician participants that balances the needs to enhance understandability of genomic information and to convey its complexity. We provide an educational curriculum for physician participants and offer them a hotline to genetics professionals for guidance in interpreting and managing their patients’ genome reports. Using varied data sources, including surveys, semi-structured interviews, and review of clinical data, we measure the attitudes, behaviors and outcomes of physician and patient participants at multiple time points before and after the disclosure of these results.

Discussion

The impact of emerging sequencing technologies on patient care is unclear. We have designed a process of interpreting WGS results and delivering them to physicians in a way that anticipates how we envision genomic medicine will evolve in the near future. That is, our WGS report provides clinically relevant information while communicating the complexity and uncertainty of WGS results to physicians and, through physicians, to their patients. This project will not only illuminate the impact of integrating genomic medicine into the clinical care of patients but also inform the design of future studies.

Trial registration

ClinicalTrials.gov identifier NCT01736566

Keywords:
Whole genome sequencing; Genome report; Genomic medicine; Translational genomics; Primary care; Cardiomyopathy genetics