NICU and rapid genetic testing: Comparing mothers’ and fathers’ views and experiences

NICU and rapid genetic testing: Comparing mothers’ and fathers’ views and experiences

Project leads: Helen Dolling (Psychology/CFR), Professor Claire Hughes (Psychology/CFR) and Dr Kate Baker (MRC Cognition and Brain Sciences Unit/Department of Clinical Genetics, CUH)

Funding round: 2020–2021

Funding awarded: £2,700

Child’s illness, particularly when chronic or of unknown cause, exerts enormous stress and worry on families.  Until now, most children with a rare genetic disease did not receive a diagnosis until 6-9 years of age, often after several misdiagnoses and frequent difficulties in navigating the health care system to reach the appropriate medical specialty. With whole genome and exome sequencing (WGS/WES, very thorough genomic testing that can look at all genes), diagnoses can now be made in the NHS within two weeks of child’s birth or hospital admission.

PEREGRIN* is a follow-up study with parents of children who were recruited to the Next Generation Children (NGC) project between 2016–2020 in the East of England. This project offered rapid trio (child and both parents) whole genome sequencing (rWGS), to explore the acceptability, clinical usefulness, and feasibility of rapid genetic testing of seriously ill children and their parents. One third of the families received a genetic diagnosis of a rare or ultra-rare disease.

The aims of the follow-up research are to:

(1) Explore parents’ experiences of the impact of early genomic testing and diagnosis on their journey to parenthood and on their relationship with their child, and clarify specific benefits (e.g., available support) or harms (e.g., psychological distress) of early WGS.

(2) Identify important factors for family adjustment and adaptation.

It is important to establish whether and how parents’ perspectives of early testing may differ from the clinicians’, as well as among conditions with different outcomes.

This mixed-methods study will provide data that will inform new ethical and best practice issues and contribute to the health and wellbeing of families caring for sick children with an early diagnosis. Both mothers and fathers (90 families) will be invited to participate in this semi-structured interview and questionnaire study.

The research is funded by the researcher’s salary and a grant from Cambridge Reproduction SRI.

Image: one of the peregrine falcons that is nesting in Cambridge. From: A Cambridge Diary, Martin Bond, (used with permission)

Helen Dolling is a PhD student at the Centre for Family Research. Her current research aims to explore the impact of rapid, early testing and diagnosis in families admitted to neonatal and paediatric intensive care units from the families’ perspective, with the aim to inform future genomic testing and policy in these populations.. 

Claire Hughes is Professor of Developmental Psychology, Deputy Director of the University of Cambridge Centre for Family Research and a Fellow of Newnham College. Claire's PhD and early post-doctoral research examined executive functions in autism. Her current work investigates cultural, cognitive and family influences on childhood behavioural problems and deficits in theory of mind and executive function. 

Kate Baker is a Programme Leader Track at the MRC Cognition and Brain Sciences Unit, University of Cambridge, where she leads the Genomic Disorders and Cognitive Development programme. She is also an Honorary Consultant in Clinical Genetics at Cambridge University Hospital, and an affiliate PI of the Academic Department of Medical Genetics.