Parental Experiences of Rapid Early Genomic Results in Infancy V.1.0
Research type
Research Study
Full title
Psychosocial Impact of Paediatric Early Rapid Genomic Testing and Diagnosis: A Mixed Methods Study of Parental Adjustment, Adaptation, Risk and Resilience (PEREGRIN*)
IRAS ID
300380
Contact name
Helen Dolling
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Clinicaltrials.gov Identifier
pending, NIHR BioResource; pending, ISRCTN
Duration of Study in the UK
3 years, 1 months, 31 days
Research summary
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.
This 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) WGS, 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 parental 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.REC name
East of England - Cambridge East Research Ethics Committee
REC reference
21/EE/0154
Date of REC Opinion
9 Aug 2021
REC opinion
Further Information Favourable Opinion