The practice of genomic medicine: A delineation of the process and its governing principles

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; Linlea Armstrong

doi:10.3389/fmed.2022.1071348

The practice of genomic medicine: A delineation of the process and its governing principles

Front Med (Lausanne). 2023 Jan 12:9:1071348. doi: 10.3389/fmed.2022.1071348. eCollection 2022.

Authors

Julia Handra^{1

2}, Adrienne Elbert^{1

2}, Nour Gazzaz^{1

2

3

4}, Ashley Moller-Hansen^{1

2}, Stephanie Hyunh^{1

2}, Hyun Kyung Lee^{1

2}, Pierre Boerkoel¹, Emily Alderman^{1

2}, Erin Anderson^{1

2}, Lorne Clarke^{1

2}, Sara Hamilton^{1

2}, Ronnalea Hamman², Shevaun Hughes⁵, Simon Ip⁶, Sylvie Langlois^{1

2}, Mary Lee², Laura Li⁷, Frannie Mackenzie⁸, Millan S Patel^{1

2}, Leah M Prentice², Karan Sangha^{1

2}, Laura Sato⁶, Kimberly Seath^{1

2}, Margaret Seppelt⁶, Anne Swenerton^{1

2}, Lynn Warnock², Jessica L Zambonin^{1

2}, Cornelius F Boerkoel^{1

2}, Hui-Lin Chin^{1

2

9}, Linlea Armstrong^{1

2}

Affiliations

¹ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
² Provincial Medical Genetics Program, British Columbia Women's Hospital and Health Centre, Vancouver, BC, Canada.
³ Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.
⁴ Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
⁵ Clinical Research Informatics, Provincial Health Services Authority, Vancouver, BC, Canada.
⁶ Process & Systems Improvement, Provincial Health Services Authority, Vancouver, BC, Canada.
⁷ Breakthrough Genomics, Irvine, CA, United States.
⁸ Women's Health Research Institute, British Columbia Women's Hospital and Health Centre, Vancouver, BC, Canada.
⁹ Khoo Teck Puat-National University Children's Medical Institute, National University Hospital, Singapore, Singapore.

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: distributed cognition; genomic medicine; integrated care; precision medicine; workflow optimization.

Copyright © 2023 Handra, Elbert, Gazzaz, Moller-Hansen, Hyunh, Lee, Boerkoel, Alderman, Anderson, Clarke, Hamilton, Hamman, Hughes, Ip, Langlois, Lee, Li, Mackenzie, Patel, Prentice, Sangha, Sato, Seath, Seppelt, Swenerton, Warnock, Zambonin, Boerkoel, Chin and Armstrong.