Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and Management

Rapid whole genome sequencing (rWGS) is emerging as the standard-of-care for critically ill neonates and children. In this study, we surveyed healthcare providers to explore the impact of rWGS on medical decision making, patient management, and communication with families.

We designed a survey to measure provider perceived impact of rWGS in critically ill neonates and children sequenced at a single center, Primary Children's Hospital (Salt Lake City, UT). The survey was completed by the primary critical care provider or primary specialist provider following rWGS result return. Survey results were stratified by result type and unit.

The majority of results (81%, 140/172) were considered 'Useful' or 'Very useful' and increased clarity for the care team (52%, 89/171) and family (62%, 96/156). Providers identified at least one change in management for the majority of results (57%, 98/171).

This study found positive provider perceptions for rWGS in both pediatric non-ICU and ICU hospitalizations. A majority of providers identified the rWGS results as useful, and impactful for management. Standardized evaluation of the care team's perception of clinical management at the time of result return is a helpful measure for understanding the clinical utility of rWGS.

No clinical trial registry. This study was approved by the Institutional Review Board (IRB) of the University of Utah (IRB_00131255) as an exempt study. A consent cover letter was utilized and consent to participate was given by completing and returning the questionnaire.