173 - Clinical Utility of Rapid Whole Genome Sequencing: The Provider’s Perspective

Poster Number: 173
Publication Number: 173.218

Sabrina Malone Jenkins, University of Utah, Salt Lake City, UT, United States; Rachel Palmquist, University of Utah School of Medicine, Salt Lake City, UT, United States; Chelsea Solorzano, University of Utah, Salt Lake City, UT, United States; Carrie Torr, University of Utah School of Medicine, Salt Lake City, UT, United States; Joshua L.. Bonkowsky, Primary Children's Hospital; University of Utah, Salt Lake City, UT, United States

Background: The impact of rapid whole genome sequencing (rWGS) for critically ill patients on medical management has been evaluated, with variable reported clinical utility. This variation is suspected to be in part due to the differences in how clinical management is defined, the individuals and timing of evaluation, and the wide spectrum of presentations reported on.  

Objective: Collect provider reported information regarding the impact of rWGS on patient care to improve understanding of how rWGS is incorporated into medical decision making, management and communication with families.  

Design/Methods: We developed a survey to measure provider perceived impact of rapid whole genome sequencing in critically ill neonates and children seen at Primary Children’s Hospital (Salt Lake City, UT). This survey was administered by email notification through RedCap to the on-service primary clinical care provider or primary specialist provider, at the time of result return. Questions assessed providers perceptions regarding if the result changed the medical care plan, the impact of the result on clinical care and comprehension and the perceived clinical utility of the test.

Results: Surveys were returned by attending physicians or fellows for 150 of 221 patients (69% completion rate). For the 72 /150  completed surveys identifying results as positive, the most common changes in management included referral to a specialist (40%), additional medical screening initiated (26%) and medical therapy initiated (22%). Palliative care (not hospice) was reportedly consulted following results in 6 cases (8%) and in 1 case (2%) the palliative care team was able to sign off.  Providers reported that the majority of positive results provided increased clarity for the care team (70%) and the family (76%) and improved communication around expected prognosis (65%). Comparatively, most uncertain results and negative results were reported as not helpful, 56% and 50% respectively. Uncertain results reportedly increased confusion for care team in 10% of cases (3/30) and for family in 13% of cases (4/30).  In total, 79% of results were reported to have very useful or useful clinical utility.

Conclusion(s): This study further supports the impact of rWGS on medical management as well as highlights the provider’s perceptions regarding how results influence care team and family comprehension and communication. Standardized evaluation of care team’s perception of clinical management at the time of result return is a helpful measure for understanding the clinical utility of rWGS and the impact on our patients.