The practice of genomic medicine: A delineation of the process and its governing principles
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 medic...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2022.1071348/full |
| _version_ | 1797955379130269696 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Julia Handra |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T23:32:10Z |
| format | Article |
| id | doaj.art-c1325e5c18664729a1237b0fedaad660 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-10T23:32:10Z |
| publishDate | 2023-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-c1325e5c18664729a1237b0fedaad6602023-01-12T05:09:38ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2023-01-01910.3389/fmed.2022.10713481071348The practice of genomic medicine: A delineation of the process and its governing principlesJulia Handra0Julia Handra1Adrienne Elbert2Adrienne Elbert3Nour Gazzaz4Nour Gazzaz5Nour Gazzaz6Nour Gazzaz7Ashley Moller-Hansen8Ashley Moller-Hansen9Stephanie Hyunh10Stephanie Hyunh11Hyun Kyung Lee12Hyun Kyung Lee13Pierre Boerkoel14Emily Alderman15Emily Alderman16Erin Anderson17Erin Anderson18Lorne Clarke19Lorne Clarke20Sara Hamilton21Sara Hamilton22Ronnalea Hamman23Shevaun Hughes24Simon Ip25Sylvie Langlois26Sylvie Langlois27Mary Lee28Laura Li29Frannie Mackenzie30Millan S. Patel31Millan S. Patel32Leah M. Prentice33Karan Sangha34Karan Sangha35Laura Sato36Kimberly Seath37Kimberly Seath38Margaret Seppelt39Anne Swenerton40Anne Swenerton41Lynn Warnock42Jessica L. Zambonin43Jessica L. Zambonin44Cornelius F. Boerkoel45Cornelius F. Boerkoel46Hui-Lin Chin47Hui-Lin Chin48Hui-Lin Chin49Linlea Armstrong50Linlea Armstrong51Department of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Pediatrics, University of British Columbia, Vancouver, BC, CanadaDepartment of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaClinical Research Informatics, Provincial Health Services Authority, Vancouver, BC, CanadaProcess & Systems Improvement, Provincial Health Services Authority, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaBreakthrough Genomics, Irvine, CA, United StatesWomen’s Health Research Institute, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaProcess & Systems Improvement, Provincial Health Services Authority, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaProcess & Systems Improvement, Provincial Health Services Authority, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaKhoo Teck Puat-National University Children’s Medical Institute, National University Hospital, Singapore, SingaporeDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, CanadaProvincial Medical Genetics Program, British Columbia Women’s Hospital and Health Centre, Vancouver, BC, CanadaGenomic 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.https://www.frontiersin.org/articles/10.3389/fmed.2022.1071348/fullgenomic medicineprecision medicinedistributed cognitionworkflow optimizationintegrated care |
| spellingShingle | 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 The practice of genomic medicine: A delineation of the process and its governing principles Frontiers in Medicine genomic medicine precision medicine distributed cognition workflow optimization integrated care |
| title | The practice of genomic medicine: A delineation of the process and its governing principles |
| title_full | The practice of genomic medicine: A delineation of the process and its governing principles |
| title_fullStr | The practice of genomic medicine: A delineation of the process and its governing principles |
| title_full_unstemmed | The practice of genomic medicine: A delineation of the process and its governing principles |
| title_short | The practice of genomic medicine: A delineation of the process and its governing principles |
| title_sort | practice of genomic medicine a delineation of the process and its governing principles |
| topic | genomic medicine precision medicine distributed cognition workflow optimization integrated care |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2022.1071348/full |
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