| Literature DB >> 31148592 |
Zornitza Stark1,2,3, Amy Nisselle4,5,6, Belinda McClaren4,5,6, Fiona Lynch4,5,6, Stephanie Best7, Janet C Long7, Melissa Martyn5,6,8, Chirag Patel9, Luregn J Schlapbach10,11,12,13, Christopher Barnett14, Christiane Theda5,6,15, Jason Pinner16, Marcel E Dinger17,18,19, Sebastian Lunke4,5,6, Clara L Gaff4,5,8,20.
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.Mesh:
Year: 2019 PMID: 31148592 PMCID: PMC6777457 DOI: 10.1038/s41431-019-0429-y
Source DB: PubMed Journal: Eur J Hum Genet ISSN: 1018-4813 Impact factor: 4.246