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

Zornitza Stark*, Amy Nisselle, Belinda McClaren, Fiona Lynch, Stephanie Best, Janet C. Long, Melissa Martyn, Chirag Patel, Luregn J. Schlapbach, Christopher Barnett, Christiane Theda, Jason Pinner, Marcel E. Dinger, Sebastian Lunke, Clara L. Gaff

*Corresponding author for this work

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1493-1501
Number of pages9
JournalEuropean Journal of Human Genetics
Volume27
Issue number10
Early online date31 May 2019
DOIs
Publication statusPublished - Oct 2019

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