Studying Perspectives of Parents and Treating Physicians about Rapid Genomic Sequencing in the Context of Neonatal and Pediatric Critical Care in a Canadian Setting

Genomic sequencing has increased the diagnostic yield of rare genetic diseases compared to traditional approaches. Recent studies have shown that rapid genomic sequencing (rGS) in children hospitalized in critical care and for whom a genetic condition is suspected leads to faster diagnoses, better adapted care, and specific treatments. However, offering this test raises many issues. Having a child hospitalized in intensive care is a stressful experience: worried parents are expected, over a short time, to integrate large amounts of complex information and make difficult decisions.We conducted semi-structured interviews with parents and treating physicians of children admitted to intensive care for whom rGS was offered. To assess their perspectives, we asked about their understanding of rGS, their experience of deciding about, receiving, and dealing with rGS, and how doing rGS impacted their child, their family, and the care provided to them.We analyzed data thematically, using a template analysis approach. Physicians reported a positive attitude towards rGS and its clinical utility, and appreciated the short delay to obtain results, but wished it would be even shorter. They highlighted challenges linked to parents’ understanding of the test and its implications, and observed a discrepancy between benefits expected by parents and actual impacts of rGS results on their child’s care. They explained how doing rGS had both positive and negative impacts on parents’ psychological well-being.Data analysis from parents is ongoing.We expect the results of this study to improve how rGS is offered and used in a universal health care setting.

Authors: Guylaine D'Amours, CHU Sainte-Justine, Montreal, Canada; Anne-Marie Laberge, Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Ste-Justine, Montreal, Canada