The Impact of Receiving Secondary Findings: A Survey of Caregivers in Spark

Since 2013, extensive research has examined participant comprehension and perceptions of receiving secondary finding (SF) results following whole exome sequencing (WES) (Kalia et al., 2017). Simon’s Powering Autism Research for Knowledge (SPARK) began returning SF results to research participants in 2021 (Chung, 2024). We sought to uncover how SPARK parental caregiver attitudes and use of SF information compared to current literature on SF outcomes. This study analyzed 54 responses from parental caregivers enrolled in SPARK who received positive SF results for themselves and/or their child. Our online survey included questions about SPARK’s consent and disclosure process, the use of SF information for medical management and family cascade testing, and participants’ level of regret measured by the Decision Regret Scale (O’Connor, 1996). The majority of participants consented to SF via an online form; 90% rated their understanding level of SF as “good” or “great,” indicating the potential utility of this delivery method to increase scalability and accessibility of SF information. SPARK participants engaged in more familial cascade testing compared to current literature (53.5% vs. 4-7.6%) (Sapp et al., 2021; Stefka et al., 2023). About 80% of adults made changes to their routine medical care based on their SF result, a substantially higher proportion than the 20% indicated in previous studies (Sapp et al., 2021). Participants' low levels of regret align with existing research on SF. These results suggest the overall value of returning SF in research settings like SPARK and may be used to inform future SF practices.