TY - JOUR
T1 - Establishing a Collaborative Genomic Repository for Adult Burn Survivors
T2 - A Burn Model System Feasibility Study
AU - Sibbett, Stephen
AU - Oh, Jamie
AU - Carrougher, Gretchen
AU - Muffley, Lara
AU - Ashford, Nathaniel
AU - Pacleb, Maiya
AU - Mandell, Samuel
AU - Schneider, Jeffrey
AU - Wolf, Steven
AU - Stewart, Barclay
AU - Gibran, Nicole S.
N1 - Publisher Copyright:
© 2024 by the authors.
PY - 2024/12
Y1 - 2024/12
N2 - 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.
AB - 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.
KW - genomics
KW - multicenter database
KW - precision medicine
KW - worrier/warrior gene
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UR - http://www.scopus.com/inward/citedby.url?scp=85213508461&partnerID=8YFLogxK
U2 - 10.3390/ebj5040034
DO - 10.3390/ebj5040034
M3 - Article
C2 - 39727910
AN - SCOPUS:85213508461
SN - 2673-1991
VL - 5
SP - 389
EP - 398
JO - European Burn Journal
JF - European Burn Journal
IS - 4
ER -