Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study
In this study, we aimed to integrate a genetic repository with an existing longitudinal national burn database. We set out two primary objectives, namely (1) to develop standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing multi...
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MDPI AG
2024-11-01
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| Series: | European Burn Journal |
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| Online Access: | https://www.mdpi.com/2673-1991/5/4/34 |
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| author | Stephen Sibbett Jamie Oh Gretchen Carrougher Lara Muffley Nathaniel Ashford Maiya Pacleb Samuel Mandell Jeffrey Schneider Steven Wolf Barclay Stewart Nicole S. Gibran |
| author_facet | Stephen Sibbett Jamie Oh Gretchen Carrougher Lara Muffley Nathaniel Ashford Maiya Pacleb Samuel Mandell Jeffrey Schneider Steven Wolf Barclay Stewart Nicole S. Gibran |
| author_sort | Stephen Sibbett |
| collection | DOAJ |
| description | In this study, we aimed to integrate a genetic repository with an existing longitudinal national burn database. We set out two primary objectives, namely (1) to develop standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing multicenter database; and (2) to demonstrate the feasibility of correlating genetic variation to functional outcomes in a pilot study, using the catechol-O-methyltransferase (COMT) gene. Dubbed the worrier/warrior gene, COMT variants have been associated with varying phenotypes of post-traumatic stress, wellbeing, and resilience. Between August 2018 and July 2020, COMT variants were identified for 111 participants from three sites and correlated with their outcome data. We found no association between COMT variants and functional outcomes, likely due to the inadequate sample size. We also asked all potential participants why they consented to or refused genetic analysis. A thematic analysis of responses revealed altruism and personal interest/enthusiasm in the study as top reasons for consenting. Privacy concerns were the most common reason for refusal. In conclusion, we successfully developed standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing database, and we demonstrated the feasibility of conducting a multicenter collaborative study using a centralized lab location. |
| format | Article |
| id | doaj-art-48ca9507fd21495581f89c09522fb19f |
| institution | DOAJ |
| issn | 2673-1991 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | European Burn Journal |
| spelling | doaj-art-48ca9507fd21495581f89c09522fb19f2025-08-20T02:53:34ZengMDPI AGEuropean Burn Journal2673-19912024-11-015438939810.3390/ebj5040034Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility StudyStephen Sibbett0Jamie Oh1Gretchen Carrougher2Lara Muffley3Nathaniel Ashford4Maiya Pacleb5Samuel Mandell6Jeffrey Schneider7Steven Wolf8Barclay Stewart9Nicole S. Gibran10Department of Surgery, University of Washington, Seattle, WA 98195, USADepartment of Surgery, University of Washington, Seattle, WA 98195, USADepartment of Surgery, University of Washington, Seattle, WA 98195, USADepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USADepartment of Surgery, University of Washington, Seattle, WA 98195, USADepartment of Surgery, University of Washington, Seattle, WA 98195, USAParkland Regional Burn Center, Department of Surgery, University of Texas Southwestern, Dallas, TX 75235, USARehabilitation Outcomes Center at Spaulding Rehabilitation Hospital, Department of Physical Medicine and Rehabilitation, Harvard Medical School, Boston, MA 02129, USADepartment of Surgery, University of Texas Medical Branch, Galveston, TX 77555, USADepartment of Surgery, University of Washington, Seattle, WA 98195, USADepartment of Surgery, University of Washington, Seattle, WA 98195, USAIn this study, we aimed to integrate a genetic repository with an existing longitudinal national burn database. We set out two primary objectives, namely (1) to develop standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing multicenter database; and (2) to demonstrate the feasibility of correlating genetic variation to functional outcomes in a pilot study, using the catechol-O-methyltransferase (COMT) gene. Dubbed the worrier/warrior gene, COMT variants have been associated with varying phenotypes of post-traumatic stress, wellbeing, and resilience. Between August 2018 and July 2020, COMT variants were identified for 111 participants from three sites and correlated with their outcome data. We found no association between COMT variants and functional outcomes, likely due to the inadequate sample size. We also asked all potential participants why they consented to or refused genetic analysis. A thematic analysis of responses revealed altruism and personal interest/enthusiasm in the study as top reasons for consenting. Privacy concerns were the most common reason for refusal. In conclusion, we successfully developed standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing database, and we demonstrated the feasibility of conducting a multicenter collaborative study using a centralized lab location.https://www.mdpi.com/2673-1991/5/4/34genomicsworrier/warrior geneprecision medicinemulticenter database |
| spellingShingle | Stephen Sibbett Jamie Oh Gretchen Carrougher Lara Muffley Nathaniel Ashford Maiya Pacleb Samuel Mandell Jeffrey Schneider Steven Wolf Barclay Stewart Nicole S. Gibran Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study European Burn Journal genomics worrier/warrior gene precision medicine multicenter database |
| title | Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study |
| title_full | Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study |
| title_fullStr | Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study |
| title_full_unstemmed | Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study |
| title_short | Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study |
| title_sort | establishing a collaborative genomic repository for adult burn survivors a burn model system feasibility study |
| topic | genomics worrier/warrior gene precision medicine multicenter database |
| url | https://www.mdpi.com/2673-1991/5/4/34 |
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