The delivery of rapid genomic sequencing (rGS) to critically unwell children in intensive care occurs at a time of immense pressure and stress for parents. Contact with families after result disclosure, particularly after hospital discharge, presents an opportunity to meet their psychological, medical and information needs as they evolve. This study explores the preferences and perspectives of health professionals and parents of genetics follow up after rGS. Semi-structured interviews were conducted with 30 parents, seven genetic counsellors (GCs) and four intensive care physicians with experience in rGS. Transcripts were analysed using reflexive thematic analysis. Current practices surrounding genetics follow up after rGS were highly variable, resulting in some families not receiving the ongoing care they needed. Reasons identified by families for wanting follow-up care represented only a subset of those identified by health professionals. While GCs routinely provided their details to allow parents to initiate further contact, this was not always sufficient for follow-up care. Health professionals identified both organisational and psychosocial barriers to conducting follow up. As rGS transforms the diagnostic pathway in rare disease, there is a need for a co-designed, standardised but flexible model for follow-up care with genetics professionals so that families’ evolving needs are met.
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The datasets generated during and analysed during the current study are available from the corresponding author on reasonable request.
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This study was completed in partial fulfilment of the requirements for the first author’s Doctor of Philosophy degree from the University of Melbourne. The authors thank the participants for their involvement.
This work was supported by the Victorian Government’s Operational Infrastructure Support Program and a grant from the Australian National Health & Medical Research Council (GNT1113531). FL was supported by a Melbourne Children’s Postgraduate Health Research Scholarship funded by the Royal Children’s Hospital Foundation, and by the Australian Government through the Medical Research Future Fund, as part of the Genomics Health Futures Mission (Grant number 76749). The Australian Genomics Health Alliance (Australian Genomics) project is funded by an NHMRC Targeted Call for Research grant (GNT1113531). 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 declare no competing interests.
Ethics approval and consent to participate
This study was reviewed and approved by the Human Research Ethics Committee of The University of Melbourne (HREC IDs 1646785.9 and 1853036). Participants provided voluntary, informed consent. The Australian Genomics Acute Care study received human research ethics committee approval from Melbourne Health (HREC/16/MH251).
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Lynch, F., Nisselle, A., Stark, Z. et al. Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery. Eur J Hum Genet 30, 1276–1282 (2022). https://doi.org/10.1038/s41431-022-01168-w