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Eur J Hum Genet. 2019 May 31. doi: 10.1038/s41431-019-0429-y. [Epub ahead of print]

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.

Stark Z1,2,3, Nisselle A4,5,6, McClaren B4,5,6, Lynch F4,5,6, Best S7, Long JC7, Martyn M5,6,8, Patel C9, Schlapbach LJ10,11,12,13, Barnett C14, Theda C5,6,15, Pinner J16, Dinger ME17,18,19, Lunke S4,5,6, Gaff CL4,5,8,20.

Author information

1
Australian Genomics Health Alliance, Melbourne, Australia. zornitza.stark@vcgs.org.au.
2
University of Melbourne, Melbourne, Australia. zornitza.stark@vcgs.org.au.
3
Murdoch Children's Research Institute, Melbourne, Australia. zornitza.stark@vcgs.org.au.
4
Australian Genomics Health Alliance, Melbourne, Australia.
5
University of Melbourne, Melbourne, Australia.
6
Murdoch Children's Research Institute, Melbourne, Australia.
7
Australian Institute of Health Innovation, Macquarie University, Sydney, Australia.
8
Melbourne Genomics Health Alliance, Melbourne, Australia.
9
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
10
Paediatric Critical Care Research Group, Child Health Research Centre, The University of Queensland, Brisbane, Australia.
11
Paediatric Intensive Care Unit, Queensland Children's Hospital, Brisbane, Australia.
12
Faculty of Medicine, The University of Queensland, Brisbane, Australia.
13
Department of Pediatrics, Bern University Hospital, Inselspital, University of Bern, Bern, Switzerland.
14
Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, Australia.
15
Neonatal Services, Royal Women's Hospital, Melbourne, Australia.
16
Sydney Children's Hospital, Sydney, Australia.
17
Garvan Institute of Medical Research, Sydney, Australia.
18
Genome.One, Sydney, Australia.
19
St Vincent's Clinical School, University of New South Wales Sydney, Sydney, Australia.
20
Walter and Eliza Hall Institute, Melbourne, Australia.

Abstract

We investigated the attitudes of intensive care physicians and genetics professionals towards rapid genomic testing in neonatal and paediatric intensive care units (NICU/PICU). A mixed-methods study (surveys and interviews) was conducted at 13 Australian hospitals and three laboratories involved in multi-center implementation of rapid genomic testing. We investigated experience and confidence with genomic tests among intensivists; perceived usefulness of genomic diagnostic results; preferences for service delivery models; and implementation readiness among genetic services. The overall survey response rate was 59%, 47% for intensivists (80/170), and 75% (91/121) for genetics professionals. Intensivists reported moderate confidence with microarray tests and lower confidence with genomic tests. The majority of intensivists (77%), clinical geneticists (87%) and genetic counsellors (82%) favoured a clinical genetics-led service delivery model of genomic testing. Perceived clinical utility of genomic results was lower in the intensivist group compared to the genetics professionals group (20 v 50%, p < 0.001). Interviews (n = 6 intensivists; n = 11 genetic counselors) demonstrated support for implementation, with concerns relating to implementation environment and organizational readiness. Overall, our findings support initial implementation of genomic testing in NICU/PICU as part of an interdisciplinary service delivery model that promotes gradual adoption of genomics by the intensive care workforce while ensuring safety, sustainability, and efficiency.

PMID:
31148592
DOI:
10.1038/s41431-019-0429-y

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