Parental Perspectives on Whole-Exome Sequencing in Pediatric Cancer: A Typology of Perceived Utility

Abstract

Purpose To explore how parents of pediatric patients with cancer perceived the utility of clinical tumor and germline whole-exome sequencing (WES) results. Patients and Methods We conducted longitudinal interviews with parents of a diverse pediatric cancer population before disclosure of WES results (n = 64), then 1 to 8 months (n = 33) after disclosure. Interview transcripts were analyzed using a thematic qualitative approach. Results Parents identified a broad range of types of utility for their child’s WES results. Even when results did not affect their child’s current treatment, they expressed optimism about future clinical utility for their child, themselves, and other family members. Parents also reported experiencing psychological utility including peace of mind, relief of guilt, and satisfaction of curiosity. Pragmatic utility, such as the ability to plan for the future and make better reproductive decisions, was also described. Conclusion Parents of pediatric patients with cancer perceive WES to have broad utility, including psychological and pragmatic utility, even if there is no direct impact on clinical care. Additional research will need to consider how the value of genomic information should be characterized, how risks and benefits should be described, and how these results should inform recommendations and decisions about using WES.

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