Family experiences with genetic/genomic testing in the pediatric intensive care unit

Genetic testing is increasingly utilized in neonatal and pediatric intensive care units (NICUs and PICUs, respectively) for diagnosis and management. Despite this, research on family experiences and genetic testing is limited, especially in the PICU. Our previous NICU study emphasized the importance of communication in conveying test results. Similar to the NICU, PICU settings raise parental stress and uncertainty. We aimed to identify considerations to increase empowerment for parents undergoing genetic testing in the PICU and compare our results to previous NICU findings. The following mixed-methods study, conducted at BC Children's Hospital in Vancouver, British Columbia, included a demographic and validated empowerment survey (EMPATHIC-38) and semi-structured interviews with caregivers of children who underwent genetic testing in the PICU. Quantitative data were analyzed using descriptive statistics. Interviews were analyzed using an interpretive description framework and thematic analysis. Transcripts were coded by two independent coders, and themes were finalized. Eleven semi-structured interviews and 12 empowerment surveys were completed. The organization (Mean = 5.79/6.00 ± 0.16) and professional attitude (Mean = 5.77/6.00 ± 0.17) domains scored the highest. The lowest-scoring domain was parental participation (Mean = 5.43/6.00 ± 0.15), measuring healthcare professionals' attitudes toward parental engagement in care. Identified themes included: preferences for different formats for receiving results, considerations for different languages, understandable language, impact on extended family members, funding for testing, and long-term clinical management. CONCLUSION: In contrast to the NICU, PICU parents showed greater consideration for extended family members and long-term management, with a clear preference for educational materials. Parents in both ICUs identified the need for a clear explanation of uninformative and positive results. WHAT IS KNOWN: • Despite the growing implementation of genetic testing for critically ill children, the evaluation of caregivers' experiences for those undergoing this process is limited, particularly in the PICU. • Factors affecting parental empowerment for caregivers in the PICU environment are critical to tailor family-centred care. WHAT IS NEW: • PICU-specific considerations for navigating challenges between healthcare professionals and families were identified, which are in contrast to previous findings in the NICU. • To increase caregivers' empowerment, both genetic and nongenetic healthcare professionals should work together with caregivers to navigate various aspects of genetic testing, including funding, timeline, potential diagnoses, long-term clinical management, and implications for extended family members.