Parental Experiences of Rapid Early Genomic Results in Infancy: A mixed methods study of parental adjustment, adaptation, risk and resilience (PEREGRIN*)
Study code
NBR133
Lead researcher
Professor Claire Hughes
Study type
Samples and data
Institution or company
University of Cambridge
Researcher type
Academic
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.
Participation: For this study 92 participants took part by completing a questionnaire and conducting an interview with a researcher.
Organisation: This study is organised by Helen Dolling from The Centre for Family Research within the Department of Psychology at the University of Cambridge
Study update: From Helen Dolling:
"I am writing to share the good news about our first paper from the Peregrin study having been published online. Please access the article here.
Cambridge University Press Office have also published a piece on this here, linking it with the Children's Hospital.
We would like to tell the families about this and to thank them for their participation. Thanks for all your support in making this possible!"