Genetic counselors in the NICU and PICU: Experiences from the Australian Acute Care Genomics project

Abstract

Background: The Acute Care Genomics (ACG) project provides rapid (turnaround timeof<5days) genomic testing to acutely unwell infants and children with suspected monogenic disorders across 10 Australian hospitals. Of the first 100 cases enrolled, 52% received a diagnosis, with a change in management in 75% of those diagnosed. Five families declined participation in the project. Genetic counselors (GCs) formed an integral part of the multidisciplinary ACG team. Methods: We examined the interactions of the GCs with this patient cohort and describe our observations of the emerging role of GCs in neonatal and pediatric intensive care units. Results: Overall, GCs spoke with families in 91/121 (75%) pre-test and 74/118 (63%) post-test encounters, with an average duration of 53 and 42 min respectively. Where GCs were involved, the average number of contacts per family was two (range 1-6); the level of GC involvement varied across recruitment sites. GCs facilitated informed decision-making and consent, provided psychosocial support, and managed the logistics of recruitment, often acting as a conduit for communication between bedside clinicians and the laboratory. Common challenges encountered during this period included logistics, (lack of) preparation time and practising in the intensive care environment. Given the distressing nature of many of the diagnoses, GCs provided guidance and peer support to each other and the clinical team more broadly, through individual discussions and focussed, interactive workshops with multi-site participation. Conclusion: Lessons learned are important for future service planning, as well as in ongoing efforts to mainstream genomic testing more broadly.L6298895622019-11-25 <br />