Parental Experiences of Rapid Early Genomic Results in Infancy: A mixed methods study of parental adjustment, adaptation, risk and resilience (PEREGRIN*)

Study code
NBR 133

Lead researcher
Professor Claire Hughes

Study type
Participant re-contact

Institution or company
University of Cambridge

Speciality area
Children and Young People

Summary

Worldwide, the Cambridge-based Next Generation Children (NGC) project (French et al, 2019) is the first and largest cohort to receive rapid trio whole genome sequencing (rWGS) in an acute neonatal and paediatric setting (NICU/PICU). Just over a third of the 521 families received a diagnosis of a rare or ultra-rare disease in their child. These genetic conditions require early intensive care and impact families and their child’s clinical management in a variety of ways.  

 

This follow-up mixed-methods study with parents aims to explore: (i) parents’ reflections on their experiences of rapid early genomic testing and results, and the impact this has had on their family lives and wellbeing; and (ii) the factors that help explain why these experiences and impacts differ across families.  

 

This study will consider parents’ perceptions of the timing and usefulness of testing, alongside with decisional regret. Secondly, parental adjustment and adaptation to child’s illness and diagnosis will be examined in relation to child and parent characteristics, the early home environment and available support.