“I don’t think I even thought of myself” A mixed-methods study of family experiences of trio germline whole genome sequencing in newly diagnosed childhood cancer

Abstract

Background: Germline genomic sequencing (GGS) is increasingly offered to children with cancer. We explored families’ experiences of consent, result-disclosure, and satisfaction in the PREDICT study, a standalone trio-GGS study of unselected, newly-diagnosed patients (≤ 21 yrs). Methods: Using a convergent parallel mixed-methods design, parents and children (≥ 12 yrs) completed questionnaires at baseline/post-consent (T0), results-return (T1), and for parents, one-year post-enrolment (T2). Parents completed T1 interviews. Results: 187/248 parents (mean:40.4 yrs) and 19/32 children (mean:14.9 yrs) from 128/144 families participated; 49 parents were interviewed. Few reported thoroughly reading consent materials and consent-related distress was low, though higher among parents with lower-income (p = 0.001) or below-average genetics knowledge (p = 0.027). At result-return, participants reported moderate distress, with no differences by result type (p = 0.118). Satisfaction was high (median: parents 98/100, children 87/100), 96% of parents and 60% of children would recommend PREDICT, and parents reported minimal regret (mean:15.74/100). Qualitative data revealed that cancer diagnosis-related distress influenced consent comprehension and potentially impeded parents’ ability to consider study implications for themselves. Emotional reactions to results ranged from relief to distress, regardless of findings. Communication and trust shaped experiences. Conclusions: Consent for trio-GGS at cancer diagnosis is complex, requiring flexible, tailored processes. Clear, timely communication from trusted clinicians is key to improving family experiences.