ELSIcon2024: Prenatal genetic information as preparation: Parents and clinicians reimagining benefits for families and future children

ELSIcon2024 • Paper • June 11, 2024 

Authors:

Speaker: Claudia Azuelos, MD (she/her/hers) – Université de Montréal and CHU Ste-Justine (Canada)

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 health care 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.

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