The neonatal intensive care unit (NICU) at BC Women’s Hospital + Health Centre cares for approximately 1,200 premature or ill infants annually. Many have underlying genetic disorders — the leading cause of infant mortality.
Genome-wide sequencing (GWS) is a powerful technology that can test for thousands of genetic diseases at one time and has the potential to save lives. Although GWS can dramatically increase the rate of diagnosis, many NICU parents decline testing when presented with this test option. Building on RAPIDOMICS, a pilot study of rapid GWS to identify genetic disorders in newborns in the NICU at BC Women's Hospital + Health Centre, this project investigated factors influencing decision making for parents considering GWS.
30 parents of newborns in the NICU were surveyed on their exposure and understanding of GWS as a diagnostic option for their babies. While 70% of the parents found the initial discussion of GWS a positive experience, there were overarching themes of overwhelm and anxiety. It may prove useful to keep pre-test counselling brief to assist parents with decision making. Correlational statistical analysis is ongoing to determine if there are any factors which are correlated with anxiety and decisional conflict in relation to WGS.
This collaboration involving researchers, healthcare workers and parent representatives explored ways to maximize benefits to both families and the healthcare system by addressing ethical, social, and genetic counselling concerns regarding GWS in the NICU. The project explored what influences NICU parents’ GWS choices to determine whether parents are receiving appropriate supportive counselling and adequate information to make informed, high-quality decisions, consistent with their values.