Genome sequencing among children with medical complexity: What constitutes value from parents’ perspective?

Whiwon Lee, Stephanie Luca, Gregory Costain, Meaghan Snell, Maria Marano, Meredith Curtis, Kourtney Dunsmore, Danielle Veenma, Susan Walker, Ronald D. Cohn, Christian R. Marshall, Eyal Cohen, M. Stephen Meyn, Julia Orkin, Robin Z. Hayeems*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)


Genome sequencing (GS) has demonstrated high diagnostic yield in pediatric patients with complex, clinically heterogeneous presentations. Emerging evidence shows generally favorable experiences for patients and families receiving GS. As a result, implementation of GS in pediatrics is gaining momentum. To inform implementation, we conducted a qualitative study to explore the personal utility of GS for parents of children with medical complexity (CMC). GS was performed at an academic tertiary-care center for CMC for whom a genetic etiology was suspected. Following the return of GS results, semi-structured interviews were conducted with 14 parents about their child's diagnostic journey. Of the children whose parents were interviewed, six children received a diagnosis, two received a possible diagnosis, and six did not receive a diagnosis. A predominantly deductive thematic analysis approach to the interview data was used by applying Kohler's personal utility framework to understand affective, cognitive, behavioral and social impacts of GS. Both the diagnosed and undiagnosed groups experienced enhanced emotion-focused coping (affective). The diagnosed group experienced favorable utility related to knowledge of condition (cognitive) and communication with relatives (behavioral). A domain beyond Kohler's framework related to the presence or absence of GS impact on medical management was also described by parents. The deployment of GS late in the diagnostic odyssey and the limited knowledge available for the rare genetic disorders diagnosed in this cohort appeared to diminish the perceived utility of GS. As GS capabilities continue to evolve at a rapid pace and become available earlier in the diagnostic journey, it is important to consider the impact and timing of testing on parents of CMC.

Original languageEnglish
Pages (from-to)523-533
Number of pages11
JournalJournal of Genetic Counseling
Issue number2
Early online date21 Oct 2021
Publication statusPublished - Apr 2022

Bibliographical note

Funding Information:
This work was supported by The Hospital for Sick Children's Norman Saunders Complex Care Initiative Grant. This work was completed by the first author who is in the PhD program at the University of Toronto.

Publisher Copyright:
© 2021 National Society of Genetic Counselors.


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