TY - JOUR
T1 - The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
AU - Krier, Joel
AU - Feuerman, Lindsay Z
A2 - Bates, David W
A2 - Carere, Alexis D
A2 - Cirino, Allison
A2 - Connor, Lauren
A2 - Christensen, Kurt D
A2 - Duggan, Jake
A2 - Green, Robert C
A2 - Ho, Carolyn Y
A2 - Krier, Joel B
A2 - Lane, William J
A2 - Lautenbach, Denise M
A2 - Lehmann, Lisa
A2 - Liu, Christina
A2 - MacRae, Calum A
A2 - Miller, Rachel
A2 - Morton, Cynthia C
A2 - Seidman, Christine E
A2 - Sunyaev, Shamil
A2 - Vassy, Jason L
A2 - Aronson, Sandy
A2 - Ceyhan-Birsoy, Ozge
A2 - Gowrisankar, Siva
A2 - Lebo, Matthew S
A2 - Leschiner, Ignat
A2 - Machini, Kalotina
A2 - McLaughlin, Heather M
A2 - Metterville, Danielle R
A2 - Rehm, Heidi L
A2 - Blumenthal-Barby, Jennifer
A2 - Zausmer Feuerman, Lindsay
A2 - McGuire, Amy L
A2 - Panchang, Sarita
A2 - Oliver Robinson, Jill
A2 - Slashinski, Melody J
A2 - Alexander, Stewart C
A2 - Davis, Kelly
A2 - Ubel, Peter A
A2 - Kraft, Peter
A2 - Roberts, J Scott
A2 - Garber, Judy E
A2 - Hambuch, Tina
A2 - Murray, Michael F
A2 - Kohane, Isaac S
A2 - Kong, Sek Won
A2 - Lee, In-Hee
N1 - F32 HG006993, NHGRI NIH HHS, United StatesF32 HG006993, NHGRI NIH HHS, United StatesL30 DK089597, NIDDK NIH HHS, United StatesL30 DK089597, NIDDK NIH HHS, United StatesT32 GM007748-34, NIGMS NIH HHS, United StatesU01 HG006500, NHGRI NIH HHS, United StatesU01-HG006500, NHGRI NIH HHS, United StatesU19 HD077671, NICHD NIH HHS, United StatesUL1 RR025758, NCRR NIH HHS, United StatesUL1RR025758, NCRR NIH HHS, United States
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
U2 - 10.1186/1745-6215-15-85
DO - 10.1186/1745-6215-15-85
M3 - Article
C2 - 24645908
SN - 1745-6215
VL - 15
JO - Trials
JF - Trials
ER -