Offering complex genomic screening in acute pediatric settings: family decision-making and outcomes
- Author(s)
- Martyn, M; Lee, L; Jan, A; Tytherleigh, R; Lynch, F; Mighton, C; Bouffler, SE; Lynch, E; Macciocca, I; Curnow, L; McCorkell, G; Lunke, S; Chong, B; Delatycki, MB; Downie, L; Vears, D; Best, S; Clausen, M; Bombard, Y; Stark, Z; Gaff, C;
- Journal Title
- Genetics in Medicine
- Publication Type
- Online publication before print
- Abstract
- PURPOSE: Families of children in pediatric acute care offered ultra-rapid genomic sequencing are making complex decisions in a high stress period. To reduce complexity for families and clinicians, we offered genomic screening for the child and parents after completion of diagnostic testing. We evaluated uptake, understanding and service delivery preferences. METHODS: A cohort of 235 families who had completed ultra-rapid diagnostic genomic sequencing at 17 Australian hospitals were offered up to three screens on their genomic data: pediatric-onset, adult-onset, expanded couple carrier screening. We investigated decision-making, understanding and service delivery preferences using surveys at three timepoints (pre-counseling, post-counseling, post-result) and performed inductive content analysis of pre-test genetic counseling transcripts. RESULTS: 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%) than adult (68%; p=0.002) or pediatric (71%; p=0.01) screening decisions. All respondents with newly detected pathogenic variants accurately recalled this one 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
- Publisher's Version
- https://doi.org/10.1016/j.gim.2024.101327
- 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: 2024-12-17 06:20:05
Last Modified: 2024-12-17 06:26:01