Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

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.

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Acknowledgements

The authors thank the participants for their involvement; Marion McAllister and Peter Grant, authors of the Genomics Outcome Scale, for providing and allowing use of this scale prior to publication; Kate Francis for guidance in use of Stata; and Rigan Tytherleigh for assistance in preparing Supplementary Table S2. The Acute Care flagship project was also supported by a Royal Children’s Hospital Foundation grant (2017-906), and Sydney Children’s Hospital Network, Channel 7 Children’s Research Foundation Grant. The authors are funded by the Australian Genomics Health Alliance, the Melbourne Genomics Health Alliance and the State Government of Victoria (Department of Health and Human Services). F.L. is supported by a Melbourne Children’s Postgraduate Health Research Scholarship funded by the Royal Children’s Hospital Foundation. The Australian Genomics Health Alliance (Australian Genomics) project is funded by a National Health and Medical Research Council (NHMRC) Targeted Call for Research grant (GNT1113531). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program.

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Correspondence to Gemma R. Brett MGenCouns, MSc.

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Brett, G.R., Martyn, M., Lynch, F. et al. Parental experiences of ultrarapid genomic testing for their critically unwell infants and children. Genet Med (2020). https://doi.org/10.1038/s41436-020-0912-4

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Keywords

  • genomic testing
  • neonatal and pediatric intensive care
  • parent experiences
  • personal utility
  • decision regret