Frontiers in Medicine (Jan 2023)
The practice of genomic medicine: A delineation of the process and its governing principles
- Julia Handra,
- Julia Handra,
- Adrienne Elbert,
- Adrienne Elbert,
- Nour Gazzaz,
- Nour Gazzaz,
- Nour Gazzaz,
- Nour Gazzaz,
- Ashley Moller-Hansen,
- Ashley Moller-Hansen,
- Stephanie Hyunh,
- Stephanie Hyunh,
- Hyun Kyung Lee,
- Hyun Kyung Lee,
- Pierre Boerkoel,
- Emily Alderman,
- Emily Alderman,
- Erin Anderson,
- Erin Anderson,
- Lorne Clarke,
- Lorne Clarke,
- Sara Hamilton,
- Sara Hamilton,
- Ronnalea Hamman,
- Shevaun Hughes,
- Simon Ip,
- Sylvie Langlois,
- Sylvie Langlois,
- Mary Lee,
- Laura Li,
- Frannie Mackenzie,
- Millan S. Patel,
- Millan S. Patel,
- Leah M. Prentice,
- Karan Sangha,
- Karan Sangha,
- Laura Sato,
- Kimberly Seath,
- Kimberly Seath,
- Margaret Seppelt,
- Anne Swenerton,
- Anne Swenerton,
- Lynn Warnock,
- Jessica L. Zambonin,
- Jessica L. Zambonin,
- Cornelius F. Boerkoel,
- Cornelius F. Boerkoel,
- Hui-Lin Chin,
- Hui-Lin Chin,
- Hui-Lin Chin,
- Linlea Armstrong,
- Linlea Armstrong
Affiliations
- Julia Handra
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Julia Handra
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Adrienne Elbert
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Adrienne Elbert
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Nour Gazzaz
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Nour Gazzaz
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Nour Gazzaz
- Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
- Nour Gazzaz
- Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
- Ashley Moller-Hansen
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Ashley Moller-Hansen
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Stephanie Hyunh
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Stephanie Hyunh
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Hyun Kyung Lee
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Hyun Kyung Lee
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Pierre Boerkoel
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Emily Alderman
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Emily Alderman
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Erin Anderson
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Erin Anderson
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Lorne Clarke
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Lorne Clarke
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Sara Hamilton
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Sara Hamilton
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Ronnalea Hamman
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Shevaun Hughes
- Clinical Research Informatics, Provincial Health Services Authority, Vancouver, BC, Canada
- Simon Ip
- Process & Systems Improvement, Provincial Health Services Authority, Vancouver, BC, Canada
- Sylvie Langlois
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Sylvie Langlois
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Mary Lee
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Laura Li
- Breakthrough Genomics, Irvine, CA, United States
- Frannie Mackenzie
- Women’s Health Research Institute, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Millan S. Patel
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Millan S. Patel
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Leah M. Prentice
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Karan Sangha
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Karan Sangha
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Laura Sato
- Process & Systems Improvement, Provincial Health Services Authority, Vancouver, BC, Canada
- Kimberly Seath
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Kimberly Seath
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Margaret Seppelt
- Process & Systems Improvement, Provincial Health Services Authority, Vancouver, BC, Canada
- Anne Swenerton
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Anne Swenerton
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Lynn Warnock
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Jessica L. Zambonin
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Jessica L. Zambonin
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Cornelius F. Boerkoel
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Cornelius F. Boerkoel
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Hui-Lin Chin
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Hui-Lin Chin
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- Hui-Lin Chin
- Khoo Teck Puat-National University Children’s Medical Institute, National University Hospital, Singapore, Singapore
- Linlea Armstrong
- Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
- Linlea Armstrong
- Provincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, Canada
- DOI
- https://doi.org/10.3389/fmed.2022.1071348
- Journal volume & issue
-
Vol. 9
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.
Keywords
