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Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing

European Journal of Human Genetics (2026)Cite this article

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Abstract

Rapid genomic sequencing (rGS) is increasingly used in neonatal and paediatric intensive care units (ICUs) to inform diagnosis and guide management of critically ill infants and children. Although rGS has a high diagnostic yield and potential to influence treatment and care planning decisions, little is known about how families experience rGS in the ICU and the emotional and contextual factors influencing their testing-related decisions. We conducted semi-structured interviews with twenty-three parents of infants who consented to rGS in an ICU at two tertiary hospitals in Toronto, Ontario, Canada; all interviews took place in close proximity to the decision to pursue rGS. Parents’ experiences with rGS and the related genetics consultation demonstrated a complex interplay of emotional, pragmatic, relational, and temporal ‘sense-making’ to grasp what was happening. Overall, parents felt overwhelmed in the ICU. Some de-prioritized genetic testing compared to other aspects of care while others reflected negatively or ambivalently on rGS or felt that it was implicitly expected that they pursue it. We conclude that an rGS approach tailored to the ICU setting is needed. Consideration should be given to distributing complex decisions (such as those relating to primary vs. secondary findings) across multiple briefer visits, and alleviating decisional burden by reframing rGS as one of the many shared decisions made with families in this setting.

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Fig. 1: Comparison of genetics consultation across acute and non-acute settings.

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Data availability

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

We are grateful to the interviewees for their participation at a challenging time in their parenting journeys. We are grateful to Yenge Diambomba and Julia Orkin for their input in the development of the study.

Funding

LC and LGL received funding from the Norman Saunders Complex Care Initiative in the Division of Paediatric Medicine, The Hospital for Sick Children. RZH is supported by a Canada Research Chair in Genomics and Health Policy.

Author information

Authors and Affiliations

  1. Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada

    Michael P. Mackley, Megan A. Dickson, Anna Szuto, David Chitayat, Roberto Mendoza-Londono, Yi Wen Wang & Lauren Chad

  2. Department of Genetic Counselling, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

    Megan A. Dickson & Anna Szuto

  3. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada

    Anna Szuto, David Chitayat & Roberto Mendoza-Londono

  4. Department of Bioethics, The Hospital for Sick Children, Toronto, Ontario, Canada

    James Anderson & Lauren Chad

  5. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada

    David Chitayat

  6. Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada

    Robin Z. Hayeems & Martin Offringa

  7. Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, Ontario, Canada

    Robin Z. Hayeems & Martin Offringa

  8. Department of Newborn and Developmental Paediatrics, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada

    Eugene Ng

  9. Division of Neonatology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada

    Martin Offringa & Linh G. Ly

Authors
  1. Michael P. Mackley
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  2. Megan A. Dickson
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  3. Anna Szuto
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  4. James Anderson
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  5. David Chitayat
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  6. Robin Z. Hayeems
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  8. Eugene Ng
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  9. Martin Offringa
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  10. Yi Wen Wang
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  11. Linh G. Ly
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  12. Lauren Chad
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Contributions

LC and LGL designed the study with input from JA, DC, YD, RZH, RM, EN, MO, and JO. MAD and YWW collected data. MAD, AS, LC, and MPM completed the data analysis. MPM and LC wrote the initial draft of the manuscript. All authors revised the manuscript and approved its final version.

Corresponding author

Correspondence to Lauren Chad.

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Competing interests

RZH is a member of the Ontario Genetics Advisory Committee. The other authors have no competing interests to disclose.

Ethics approval

Research ethics approval was obtained through the Hospital for Sick Children and Mount Sinai Hospital’s Research Ethics Boards (1000070343; 22-0026-E). Informed consent was obtained from all participants.

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Mackley, M.P., Dickson, M.A., Szuto, A. et al. Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing. Eur J Hum Genet (2026). https://doi.org/10.1038/s41431-025-02012-7

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  • DOI: https://doi.org/10.1038/s41431-025-02012-7

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