'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning

Eur J Hum Genet. 2022 Sep;30(9):1036-1043. doi: 10.1038/s41431-022-01140-8. Epub 2022 Jul 13.


Rapid genomic sequencing (rGS) is being increasingly used in neonatal and paediatric intensive care units. While there is emerging evidence of clinical utility and cost-effectiveness, concerns have been raised regarding the impact of delivering genomic results in an acute care setting. To help investigate these concerns, we analysed survey data collected from caregivers whose children had received rGS through a national rapid genomic diagnosis program. The impact of rGS on families was assessed through the PedsQL2.0 Family Impact Module and the State-Trait Anxiety Inventory (STAI-6). Sixty-one parents/carers completed the survey during the study period (response rate 48%; 61/128). Mean parent and family functioning was reduced in this sample, reflecting the stressful conditions facing families with critically unwell children. We found caregivers whose children had received a diagnostic result through rGS reported a reduced family relationships score compared to caregivers of children who did not receive a diagnosis. These findings have implications for genetic counselling practice in this setting.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Caregivers
  • Child
  • Chromosome Mapping
  • Genetic Counseling*
  • Genomics
  • Humans
  • Infant, Newborn
  • Parents*
  • Surveys and Questionnaires