TY - JOUR
T1 - Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care
AU - Stark, Zornitza
AU - Nisselle, Amy
AU - McClaren, Belinda
AU - Lynch, Fiona
AU - Best, Stephanie
AU - Long, Janet C.
AU - Martyn, Melissa
AU - Patel, Chirag
AU - Schlapbach, Luregn J.
AU - Barnett, Christopher
AU - Theda, Christiane
AU - Pinner, Jason
AU - Dinger, Marcel E.
AU - Lunke, Sebastian
AU - Gaff, Clara L.
PY - 2019/10
Y1 - 2019/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85066796317&partnerID=8YFLogxK
U2 - 10.1038/s41431-019-0429-y
DO - 10.1038/s41431-019-0429-y
M3 - Article
C2 - 31148592
AN - SCOPUS:85066796317
SN - 1018-4813
VL - 27
SP - 1493
EP - 1501
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 10
ER -