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


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?

SUBMITTER: Stark Z 

PROVIDER: S-EPMC6777457 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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

Stark Zornitza Z   Nisselle Amy A   McClaren Belinda B   Lynch Fiona F   Best Stephanie S   Long Janet C JC   Martyn Melissa M   Patel Chirag C   Schlapbach Luregn J LJ   Barnett Christopher C   Theda Christiane C   Pinner Jason J   Dinger Marcel E ME   Lunke Sebastian S   Gaff Clara L CL  

European journal of human genetics : EJHG 20190531 10


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 f  ...[more]

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