Journal article
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning
H Bowman-Smart, DF Vears, GR Brett, M Martyn, Z Stark, C Gyngell
European Journal of Human Genetics | SPRINGERNATURE | Published : 2022
Open access
Abstract
Rapid genomic sequencing (rGS) is being increasingly used in neonatal and paediatric intensive care units. While there is emerging evidence of clinical utility and cost-effectiveness, concerns have been raised regarding the impact of delivering genomic results in an acute care setting. To help investigate these concerns, we analysed survey data collected from caregivers whose children had received rGS through a national rapid genomic diagnosis program. The impact of rGS on families was assessed through the PedsQL2.0 Family Impact Module and the State-Trait Anxiety Inventory (STAI-6). Sixty-one parents/carers completed the survey during the study period (response rate 48%; 61/128). Mean paren..
View full abstractGrants
Awarded by Department of Health and Human Services, State Government of Victoria
Funding Acknowledgements
This work was supported by the Australian Government through the Australian National Health & Medical Research Council (Grant number GNT1113531); the contents are solely the responsibility of the individual authors and do not reflect the views of the NHMRC. This work was supported by the Australian Government through the Medical Research Future Fund, as part of the Genomics Health Futures Mission (Grant number 76749). The Acute Care flagship project was also supported by a Royal Children's Hospital Foundation grant (2017-906), and Sydney Children's Hospital Network, Channel 7 Children's Research Foundation Grant. The authors are funded by the Australian Genomics Health Alliance, the Melbourne Genomics Health Alliance, and the State Government of Victoria (Department of Health and Human Services). The authors acknowledge infrastructure funding received from the Victorian State Government through the Operational Infrastructure Support (OIS) Program. Open Access funding enabled and organized by CAUL and its Member Institutions.