Understanding parent/caregiver support needs during genome sequencing in a pediatric research setting

Abstract

Pediatric patients benefit from genome sequencing (GS) for disease diagnosis, treatment guidance, and reducing diagnostic delays. However, parents and caregivers navigating this complex system face unique challenges, including informed consent, understanding results, and managing expectations. The variability in genetic service delivery in different clinical contexts can impact the parent/caregiver experience. Existing research often examines implementation factors like clinical utility, provider perspectives, and ethical/social concerns but tends to focus on specific aspects of genetic testing or lacks a comprehensive look at parental needs during GS specifically. This dissertation aims to address this gap by examining parent/caregiver needs throughout the entire pediatric GS process, from pre-test counseling to post-test follow-up as well as in different clinical settings. It integrates findings from a scoping review of existing literature examining parental needs during both pediatric whole exome and genome sequencing and qualitative interviews conducted within the SeqFirst project, which investigates GS as a first-line diagnostic tool in children with atypical development and infants admitted to the neonatal intensive care unit (NICU). My results identify key themes: parents need clear, empathetic communication and tailored information, emotional support, and logistical guidance at every stage of GS. Findings highlight the interconnected nature of informational, emotional, and logistical needs, underscoring the importance of addressing them comprehensively. Recognizing and responding to these needs can inform patient-centered implementation practices, ultimately improving healthcare experiences and outcomes. Addressing gaps in current support strategies, especially in the NICU and developmental disorder settings, is crucial as GS becomes a mainstay in pediatric care. This study advocates for tailored interventions to support parents, ensuring effective communication, emotional well-being, and navigational assistance through complex healthcare landscapes.