Study Highlights Emotional Pitfalls of Pediatric Diagnostic Sequencing

Despite the potential clinical benefits of rapid genomic or exome sequencing in neonatal and pediatric medicine, the use of these technologies in an acute care setting can have a negative impact on families of the sick children, according to a new study appearing in the European Journal of Human Genetics. Scientists from Australia's Murdoch Children's Research Institute analyzed survey data collected from caregivers whose children had received rapid genome sequencing, assessing the procedure's effect on families using different measures of parent and family functioning, family relationships, and parental anxiety. The researchers find that receiving a diagnosis through genetic sequencing is associated with a decrease in aspects of family functioning and parents having altered thinking about their child. The findings, the authors write, suggests that healthcare professionals involved in the diagnostic sequencing of sick children should be aware of the possibility of "diagnostic shock" and provide pretest counseling as well as psychological support following diagnosis.