PRAGMatIQ study - Rapid whole-genome sequencing in children in acute care in a universal health care system: Physicians underestimate parental expectations and concerns

Purpose: Rapid whole genome sequencing (rGS) is increasingly used to diagnose genetic conditions in children in acute care. Parental and physician experiences of rGS in a universal healthcare system need to be better understood to ensure its appropriate use.

Methods: PRAGMatIQ is a 3-year prospective multi-center study in four pediatric academic centers in Quebec, Canada. Children (0-18 years) are eligible if hospitalized for an acute condition with a high likelihood of genetic etiology. In addition to rGS, parents and physicians complete questionnaires at recruitment and one month after disclosure of results.

Results: Of 157 children, parents completed questionnaires at recruitment for 103 and physicians for 119. Assessments of the likelihood of a genetic cause were similar (p=0.4921). Parents understood rGS (mean 3.39/5). Clinicians underestimated the importance parents give to rGS results (3.40 vs 3.90; p=0.0004). Parental expectations were significantly higher than physicians’ expectations for getting a clearer prognosis (4.02 vs 2.92; p<0.0001), guiding management (4.33 vs 2.46; p<0.0001), influencing the level of care (4.12 vs 1.57; p<0.0001), identifying an actionable secondary finding (3.35 vs 1.26; p<0.0001) and enabling genetic counseling (3.47 vs 2.99; p = 0.0128). Physicians also underestimated parents’ level of worry about rGS results (1.22 vs 1.77; p=0.0220).

Conclusion: Parents understand rGS and have high expectations and moderate concerns, which physicians tend to underestimate. Data collection is ongoing, further analyses will include parental and physician perspectives post-disclosure of rGS results. These findings will inform the implementation of rGS in clinical care in Quebec.

Authors: Claudia Azuelos, Camille Varin-Tremblay, Jacques L Michaud, Anne-Marie Laberge. Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Ste-Justine, Montreal, Canada.