In this highly collaborative multi-disciplinary initiative, we propose to explore and compare the impact of using WGS in clinical conditions that model pure forms of each of these approaches. To model General Genomic Medicine, 10 primary care physicians and 100 of their healthy middle-aged patients will be enrolled. To model Disease-Specific Genomic Medicine, 10 cardiologists and 100 of their patients presenting with familial hypertrophic cardiomyopathy (HCM) will be enrolled. We will conduct an exploratory clinical trial randomizing physicians and their patients within each of these models to receive clinically meaningful information derived from WGS versus current standard of care. Project 1 will create standards for variant disclosure, enroll physicians and patients into the protocol and safely monitor the use of genomic information in clinical practice. Project 2 will sequence, analyze and interpret WGS for the physicians to use. And Project 3 will examine preferences and motivations of physicians and patients enrolled, evaluate the flow and utilization of genomic information within the clinical interactions, and assess understanding, behavior, medical consequences and healthcare costs associated with the use of WGS in these models of medical practice. This initiative will significantly accelerate the use of genomics into clinical medicine by creating and safely testing novel ways of integrating information from WGS into physician care of patients.
Physicians will soon use WGS to derive insight into future health risks and inform prevention efforts in healthy patients and to interrogate particular sets o genes known to be associated with disease in patients presenting with a family history and symptoms. The results of this study will accelerate the use of genomics in clinical medicine by creating and testing ways to integrate WGS into physician care of patients.
|Roberts, J Scott; Robinson, Jill O; Diamond, Pamela M et al. (2018) Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project. Genet Med 20:1069-1076|
|Guan, Yue; Roter, Debra L; Wolff, Jennifer L et al. (2018) The impact of genetic counselors' use of facilitative strategies on cognitive and emotional processing of genetic risk disclosure for Alzheimer's disease. Patient Educ Couns 101:817-823|
|Sanghvi, Rashesh V; Buhay, Christian J; Powell, Bradford C et al. (2018) Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20:855-866|
|Sparks, Jeffrey A; Iversen, Maura D; Yu, Zhi et al. (2018) Disclosure of Personalized Rheumatoid Arthritis Risk Using Genetics, Biomarkers, and Lifestyle Factors to Motivate Health Behavior Improvements: A Randomized Controlled Trial. Arthritis Care Res (Hoboken) 70:823-833|
|Christensen, Kurt D; Bernhardt, Barbara A; Jarvik, Gail P et al. (2018) Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings. Genet Med 20:1186-1195|
|Christensen, Kurt D; Phillips, Kathryn A; Green, Robert C et al. (2018) Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project. Value Health 21:1054-1061|
|Amendola, Laura M; Robinson, Jill O; Hart, Ragan et al. (2018) Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium. J Genet Couns 27:1220-1227|
|Porter, Kathryn M; Kauffman, Tia L; Koenig, Barbara A et al. (2018) Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Mol Genet Genomic Med 6:898-909|
|Wolf, Susan M; Scholtes, Emily; Koenig, Barbara A et al. (2018) Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants. J Law Med Ethics 46:87-109|
|Christensen, Kurt D; Uhlmann, Wendy R; Roberts, J Scott et al. (2018) A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone. Genet Med 20:132-141|
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