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https://hdl.handle.net/2440/127141
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Type: | Journal article |
Title: | Parental experiences of ultrarapid genomic testing for their critically unwell infants and children |
Author: | Brett, G.R. Martyn, M. Lynch, F. de Silva, M.G. Ayres, S. Gallacher, L. Boggs, K. Baxendale, A. Schenscher, S. King-Smith, S. Fowles, L. Springer, A. Lunke, S. Vasudevan, A. Krzesinski, E. Pinner, J. Sandaradura, S.A. Barnett, C. Patel, C. Wilson, M. et al. |
Citation: | Genetics in Medicine, 2020; 22(12):1976-1985 |
Publisher: | American College of Medical Genetics and Genomics |
Issue Date: | 2020 |
ISSN: | 1098-3600 1530-0366 |
Statement of Responsibility: | Gemma R. Brett, Melissa Martyn, Fiona Lynch, Michelle G. de Silva, Samantha Ayres, Lyndon Gallacher ... et al. |
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. |
Keywords: | decision regret genomic testing neonatal and pediatric intensive care parent experiences personal utility |
Description: | Published online : 28 July 2020 |
Rights: | © American College of Medical Genetics and Genomics |
DOI: | 10.1038/s41436-020-0912-4 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/GNT1113531 |
Published version: | http://dx.doi.org/10.1038/s41436-020-0912-4 |
Appears in Collections: | Aurora harvest 4 Genetics publications |
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