The practice of genomic medicine: A delineation of the process and its governing principles.
distributed cognition
genomic medicine
integrated care
precision medicine
workflow optimization
Journal
Frontiers in medicine
ISSN: 2296-858X
Titre abrégé: Front Med (Lausanne)
Pays: Switzerland
ID NLM: 101648047
Informations de publication
Date de publication:
2022
2022
Historique:
received:
16
10
2022
accepted:
23
12
2022
entrez:
30
1
2023
pubmed:
31
1
2023
medline:
31
1
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36714130
doi: 10.3389/fmed.2022.1071348
pmc: PMC9877428
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1071348Informations de copyright
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.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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