1. The practice of genomic medicine: A delineation of the process and its governing principles
- Author
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Julia Handra, Adrienne Elbert, Nour Gazzaz, Ashley Moller-Hansen, Stephanie Hyunh, Hyun Kyung Lee, Pierre Boerkoel, Emily Alderman, Erin Anderson, Lorne Clarke, Sara Hamilton, Ronnalea Hamman, Shevaun Hughes, Simon Ip, Sylvie Langlois, Mary Lee, Laura Li, Frannie Mackenzie, Millan S. Patel, Leah M. Prentice, Karan Sangha, Laura Sato, Kimberly Seath, Margaret Seppelt, Anne Swenerton, Lynn Warnock, Jessica L. Zambonin, Cornelius F. Boerkoel, Hui-Lin Chin, and Linlea Armstrong
- Subjects
genomic medicine ,precision medicine ,distributed cognition ,workflow optimization ,integrated care ,Medicine (General) ,R5-920 - Abstract
Genomic medicine, an emerging medical discipline, applies the principles of evolution, developmental biology, functional genomics, and structural genomics within clinical care. Enabling widespread adoption and integration of genomic medicine into clinical practice is key to achieving precision medicine. We delineate a biological framework defining diagnostic utility of genomic testing and map the process of genomic medicine to inform integration into clinical practice. This process leverages collaboration and collective cognition of patients, principal care providers, clinical genomic specialists, laboratory geneticists, and payers. We detail considerations for referral, triage, patient intake, phenotyping, testing eligibility, variant analysis and interpretation, counseling, and management within the utilitarian limitations of health care systems. To reduce barriers for clinician engagement in genomic medicine, we provide several decision-making frameworks and tools and describe the implementation of the proposed workflow in a prototyped electronic platform that facilitates genomic care. Finally, we discuss a vision for the future of genomic medicine and comment on areas for continued efforts.
- Published
- 2023
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