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.
Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, et al. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021;108:1231–8.
Freed AS, Clowes Candadai SV, Sikes MC, Thies J, Byers HM, Dines JN, et al. The impact of rapid exome sequencing on medical management of critically ill children. J Pediatr. 2020;226:202–12.e1.
Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, et al. A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants. Am J Hum Genet. 2019;105:719–33.
Australian Genomics Health Alliance Acute Care Flagship. Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system. JAMA. 2020;323:2503–11.
Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, et al. The NSIGHT1-randomized controlled trial: Rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med. 2018;3:6.
Stark Z, Ellard S. Rapid genomic testing for critically ill children: Time to become standard of care? Eur J Hum Genet. 2022;30:142–9.
Lynch F, Nisselle A, Gaff CL, McClaren B. Rapid acute care genomics: Challenges and opportunities for genetic counselors. J Gen Couns. 2021;30:30–41.
Lynch F, Nisselle A, Stark Z, Gaff CL, McClaren B. Parents’ experiences of decision making for rapid genomic sequencing in intensive care. Eur J Hum Genet. 2021;29:1804–10.
Ayres S, Gallacher L, Stark Z, Brett GR. Genetic counseling in pediatric acute care: Reflections on ultra‐rapid genomic diagnoses in neonates. J Gen Couns. 2019;28:273–82.
Brett GR, Martyn M, Lynch F, de Silva MG, Ayres S, Gallacher L, et al. Parental experiences of ultrarapid genomic testing for their critically unwell infants and children. Genet Med. 2020;22:1976–85.
Clowes Candadai SV, Sikes MC, Thies JM, Freed AS, Bennett JT. Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges. J Gen Couns. 2019;28:283–91.
Diamonstein CJ. Factors complicating the informed consent process for whole exome sequencing in neonatal and pediatic intensive care units. J Gen Couns. 2019;28:256–62.
Hill M, Hammond J, Lewis C, Mellis R, Clement E, Chitty LS. Delivering genome sequencing for rapid genetic diagnosis in critically ill children: Parent and professional views, experiences and challenges. Eur J Hum Genet. 2020;28:1529–40.
Cakici JA, Dimmock DP, Caylor SA, Gaughran M, Clarke C, Triplett C, et al. A prospective study of parental perceptions of rapid whole-genome and -exome sequencing among seriously ill infants. Am J Hum Genet. 2020;107:953–62.
Braun V, Clarke V, Hayfield N, Terry G. Thematic Analysis. In: Liamputtong P, editor. Handbook of Research Methods in Health Social Sciences. Singapore: Springer Singapore; 2019. p. 843–60.
QSR International Pty Ltd. NVivo qualitative data analysis software (released in March 2020). 2020. https://www.qsrinternational.com/nvivo-qualitative-data-analysis-software/home.
Liang NSY, Adam S, Elliott AM, Siemens A, du Souich C, Study C, et al. After genomic testing results: Parents’ long-term views. J Gen Couns. 2022;31:82–95.
Vora BB, Mountain H, Nichols C, Schofield L. Opinions and experiences of recontacting patients: A survey of Australasian genetic health professionals. J Community Genet. 2022;13:193–9.
Ashtiani S, Makela N, Carrion P, Austin J. Parents’ experiences of receiving their child’s genetic diagnosis: A qualitative study to inform clinical genetics practice. Am J Med Genet. 2014;164:1496–502.
McAllister M, Payne K, MacLeod R, Nicholls S, Donnai D, Davies L. What process attributes of clinical genetics services could maximise patient benefits? Eur J Hum Genet. 2008;16:1467–76.
Franck LS, Kriz RM, Rego S, Garman K, Hobbs C, Dimmock D. Implementing rapid whole-genome sequencing in critical care: A qualitative study of facilitators and barriers to new technology adoption. J Pediatr. 2021;237:237–43 e2.
East KM, Cochran ME, Kelley WV, Greve V, Finnila CR, Coleman T, et al. Education and training of non-genetics providers on the return of genome sequencing results in a NICU setting. J Pers Med. 2022;12:405.
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 (2022). https://doi.org/10.1038/s41431-022-01168-w