Gemma R Brett1,2, Melissa Martyn3,4,5, Fiona Lynch3,5,6, Michelle G de Silva7,3,5,6, Samantha Ayres7,6, Lyndon Gallacher7,3, Kirsten Boggs6,8,9, Anne Baxendale6,10, Sarah Schenscher6,10, Sarah King-Smith6,11, Lindsay Fowles6,12, Amanda Springer13,14, Sebastian Lunke7,3,6, Anand Vasudevan15, Emma Krzesinski13,14, Jason Pinner8, Sarah A Sandaradura9,16, Christopher Barnett10, Chirag Patel12, Meredith Wilson9, Zornitza Stark7,3,6. 1. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. gemma.brett@vcgs.org.au. 2. The University of Melbourne, Melbourne, Australia. gemma.brett@vcgs.org.au. 3. The University of Melbourne, Melbourne, Australia. 4. Melbourne Genomics Health Alliance, Melbourne, Australia. 5. Murdoch Children's Research Institute, Melbourne, Australia. 6. Australian Genomics Health Alliance, Melbourne, Australia. 7. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. 8. Sydney Children's Hospitals Network-Randwick, Sydney, Australia. 9. Sydney Children's Hospitals Network-Westmead, Sydney, Australia. 10. Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Adelaide, Australia. 11. Centre for Cancer Biology, SA Pathology, University of South Australia, Adelaide, Australia. 12. Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia. 13. Monash Genetics, Monash Health, Melbourne, Australia. 14. Department of Paediatrics, Monash University, Melbourne, Australia. 15. Royal Women's Hospital, Melbourne, Australia. 16. Discipline of Child and Adolescent Health, University of Sydney, Sydney, Australia.
Abstract
PURPOSE: To explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children. METHODS: Parents of critically unwell children who participated in a national ultrarapid genomic diagnosis program were surveyed >12 weeks after genomic results return. Surveys consisted of custom questions and validated scales, including the Decision Regret Scale and Genomics Outcome Scale. RESULTS: With 96 survey invitations sent, the response rate was 57% (n = 55). Most parents reported receiving enough information during pretest (n = 50, 94%) and post-test (n = 44, 83%) counseling. Perceptions varied regarding benefits of testing, however most parents reported no or mild decision regret (n = 45, 82%). The majority of parents (31/52, 60%) were extremely concerned about the condition recurring in future children, regardless of actual or perceived recurrence risk. Parents whose child received a diagnostic result reported higher empowerment. CONCLUSION: This study provides valuable insight into parental experiences of ultrarapid genomic testing in critically unwell children, including decision regret, empowerment, and post-test reproductive planning, to inform design and delivery of rapid diagnosis programs. The findings suggest considerations for pre- and post-test counseling that may influence parental experiences during the testing process and beyond, such as the importance of realistically conveying the likelihood for clinical and/or personal utility.
PURPOSE: To explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children. METHODS: Parents of critically unwell children who participated in a national ultrarapid genomic diagnosis program were surveyed >12 weeks after genomic results return. Surveys consisted of custom questions and validated scales, including the Decision Regret Scale and Genomics Outcome Scale. RESULTS: With 96 survey invitations sent, the response rate was 57% (n = 55). Most parents reported receiving enough information during pretest (n = 50, 94%) and post-test (n = 44, 83%) counseling. Perceptions varied regarding benefits of testing, however most parents reported no or mild decision regret (n = 45, 82%). The majority of parents (31/52, 60%) were extremely concerned about the condition recurring in future children, regardless of actual or perceived recurrence risk. Parents whose child received a diagnostic result reported higher empowerment. CONCLUSION: This study provides valuable insight into parental experiences of ultrarapid genomic testing in critically unwell children, including decision regret, empowerment, and post-test reproductive planning, to inform design and delivery of rapid diagnosis programs. The findings suggest considerations for pre- and post-test counseling that may influence parental experiences during the testing process and beyond, such as the importance of realistically conveying the likelihood for clinical and/or personal utility.
Entities:
Keywords:
decision regret; genomic testing; neonatal and pediatric intensive care; parent experiences; personal utility
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