Advances in genetic testing have enabled families of critically ill children to receive early diagnoses that can open up new options for care and treatments. But, according to new Cambridge research published in the European Journal of Human Genetics, the medical complexity of these, often lifelong and rare conditions, can lead to parental anxiety and distress, as well as uncertainty and upheaval in the family.

The Peregrin study – Parental Experiences of Rapid Early Genomic Results in Infancy – followed up a cohort of mothers and fathers to explore how parents cope and experience support after their child undergoes rapid genomic testing due to a serious early-onset medical condition.

The study, which is informing Cambridge Children’s Hospital’s ‘Whole Family’ approach, used questionnaires and interviews to understand parents’ emotional wellbeing and the impact on family life, 1 to 5 years after receiving the genetic result.

 

Reference: H. Dolling, S. Rowitch, M. Bromham, S. Archer, S. O’Curry, D. H. Rowitch, F. L. Raymond, C. Hughes, K. Baker, ‘Fathers’ and mothers’ support needs and support experiences after rapid genome sequencing’ (2025). European Journal of Human Genetics (2025). DOI: 10.1038/s41431-025-01987-7

Click here for the full Cambridge University press release: https://www.cam.ac.uk/research/news/parents-of-children-with-a-genetic-diagnosis-need-better-support