Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes
Details
Publication Year 2024-11-14,Volume 27,Issue #2,Page 101327
Journal Title
Genetics in Medicine
Abstract
PURPOSE: Families of children in pediatric acute care who are offered ultrarapid genomic sequencing are making complex decisions during a high-stress period. To reduce complexity for families and clinicians, we offered genomic screening for the child and parents after the completion of diagnostic testing. We evaluated uptake, understanding, and service delivery preferences. METHODS: A cohort of 235 families who had completed ultrarapid diagnostic genomic sequencing at 17 Australian hospitals were offered up to 3 screens on their genomic data: pediatric-onset, adult-onset, and expanded couple carrier screening. We investigated decision making, understanding, and service delivery preferences using surveys at 3 time points (pre counseling, post counseling, and post result) and performed inductive content analysis of pretest genetic counseling transcripts. RESULTS: A total of 119 families (51%) attended genetic counseling with 115 (49%) accepting genomic screening. Survey respondents were more likely to find decisions about couple carrier screening easy (87%) compared with adult (68%; P = .002) or pediatric (71%; P = .01) screening decisions. All respondents with newly detected pathogenic variants accurately recalled this 1 month later. A delayed offer of screening was acceptable to most respondents (78%). CONCLUSION: Separating genomic screening from the stressful diagnostic period is supported by families who demonstrate good knowledge and recall. Our results suggest delaying genomic screening should be trialed more widely.
Keywords
Acute care; Additional findings; Genomic health services research; Opportunistic genomic screening; Secondary findings
Department(s)
Health Services Research
Open Access at Publisher's Site
https://doi.org/10.1016/j.gim.2024.101327
Terms of Use/Rights Notice
Refer to copyright notice on published article.


Creation Date: 2025-01-07 06:20:55
Last Modified: 2025-01-07 06:21:10

© 2025 The Walter and Eliza Hall Institute of Medical Research. Access to this website is subject to our Privacy Policy and Terms of Use

An error has occurred. This application may no longer respond until reloaded. Reload 🗙