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Parental needs during pediatric whole genome sequencing for developmental disorders: an interview study

Health Services and Implementation
  • Primary Categories:
    • Health services and Implementation
  • Secondary Categories:
    • Health services and Implementation
Introduction:
Up to 80% of developmental disorders (DD) in early childhood have a genetic etiology. Whole genome sequencing (WGS) has significantly advanced diagnostic testing for pediatric patients with DD to enable diagnostic confirmation, guide medical management, and improve outcomes. However, the successful integration of WGS into clinical practice depends on understanding the needs of parents of pediatric patients going through WGS to inform optimal strategies for family-centered genetic care. This study aims to explore the informational, emotional, and logistical support needs of parents as they navigate the WGS process for their children with DD.

Methods:
We conducted a qualitative study involving semi-structured interviews with parents of children enrolled in the SeqFirst Study, where WGS was provided as a first-line genetic test for children with mild to severe DD at a major children’s hospital. Parents of children who had completed WGS through the study were invited to participate in an interview, ensuring representation from families with both explanatory and non-explanatory results. We interviewed 24 parents from 21 families. Interviews were conducted between November 2023 and April 2024 by two research team members and analyzed using thematic analysis. The analysis focused on identifying key themes within informational, emotional, and logistical needs across pre-test, interim, and post-test phases, allowing us to determine how needs changed across different points in the WGS process.

Results:
The analysis informed on three primary categories of parental support needs:

1.     Informational Guidance: Parents expressed a strong need for clear communication, both in explaining the purpose of WGS and setting expectations for potential outcomes. Before testing, parents sought detailed information on the WGS process and possible results. After sequencing, they desired specific guidance on how results would impact their child’s medical care. Frustration arose when information was presented vaguely or lacked actionable details.

2.     Emotional Support: Emotional well-being was closely tied to the communication style of providers. Parents valued empathy and periodic check-ins during the WGS process, which helped reduce their anxiety. Connections to peer support groups were also highlighted as crucial, with parents emphasizing the comfort of sharing experiences with others in similar situations. This was also important for those who received non-explanatory results.

3.     Logistical Guidance: Parents needed clear instructions on the logistics of the WGS process, such as timelines for results, the coordination of sample collection, and expectations for results appointments. A designated care coordinator was seen as beneficial for guiding parents through the system, alleviating stress, and ensuring smooth transitions between services.

Conclusion:
These findings illustrate the multifaceted and interconnected dimensions of parental needs during WGS. Parents’ informational, emotional, and logistical needs all suggest the importance of ongoing, empathetic engagement with healthcare providers. Additionally, parents emphasized the importance of care coordination to manage the logistical complexities of the WGS process, suggesting that dedicated coordinators could facilitate communication and care transitions. Parental feedback also highlighted the need for peer support from families either similar genetic or clinical diagnoses  or those similarly navigating the WGS process. However, implementing these solutions comes with potential challenges, including the resource demands for training dedicated coordinators, establishing structured peer support systems, and addressing systemic barriers such as the lack of standardized recontacting guidelines, which complicate continuous communication and coordinated care efforts

Our findings underscore the need for a patient- and family-centered approach in WGS implementation, integrating clear communication, empathy, and logistical planning. Future research should examine these needs in diverse clinical settings and among different populations to create comprehensive, scalable strategies for supporting parents through WGS. Developing such practices will enhance the delivery of WGS in clinical care, ultimately improving outcomes for families navigating complex diagnostic pathways.

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