Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes

Area of Science:

• Genomic Medicine
• Clinical Genetics
• Bioethics

Background:

• Genomic sequencing in pediatric acute care presents complex decisions for families during high-stress periods.
• Current practices offer ultrarapid genomic sequencing concurrently with diagnostic testing, potentially overwhelming families.

Purpose of the Study:

• To evaluate the uptake, understanding, and service delivery preferences of families offered genomic screening after diagnostic testing completion.
• To reduce decision-making complexity for families and clinicians in pediatric acute care settings.

Main Methods:

• A cohort of 235 families undergoing ultrarapid diagnostic genomic sequencing were offered subsequent genomic screening (pediatric-onset, adult-onset, couple carrier).
• Data were collected via surveys at three time points and inductive content analysis of genetic counseling transcripts.
• Uptake, decision-making ease, understanding, and recall of results were assessed.

Main Results:

• 119 families (51%) attended genetic counseling, and 115 (49%) accepted genomic screening.
• Couple carrier screening decisions were perceived as easier than pediatric or adult-onset screening.
• Families demonstrated accurate recall of newly detected pathogenic variants one month later, and 78% found a delayed offer acceptable.

Conclusions:

• Separating genomic screening from the acute diagnostic period is feasible and supported by families.
• Families exhibit good knowledge and recall when genomic screening is offered post-diagnosis.
• Delayed genomic screening should be trialed more broadly in clinical practice.