Cited by 43Genomics and Rare DiseasesMetabolism and Genetic DisordersPrenatal Screening and Diagnostics

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

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Stark, Zornitza, Nisselle, Amy, McClaren, Belinda, Lynch, Fiona, Best, Stephanie, Long, Janet C., Martyn, Melissa, Patel, Chirag +7 more·2019·European Journal of Human Genetics

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.

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Authors
Stark, Z., Nisselle, A., McClaren, B., Lynch, F., Best, S., Long, J. C., Martyn, M., Patel, C., Schlapbach, L. J., Barnett, C., Theda, C., Pinner, J., Dinger, M. E., Lunke, S., & Gaff, C. L.
Affiliations
  • The University of Melbourne (AU)
  • Macquarie University (AU)
  • Royal Brisbane and Women's Hospital (AU)
  • University of Bern (CH)
  • Women's and Children's Hospital (AU)
  • Royal Women's Hospital (AU)
  • Sydney Children's Hospital (AU)
  • Garvan Institute of Medical Research (AU)
Corresponding author
Stark, Zornitza
Venue
European Journal of Human Genetics
Published
2019-05-31
Volume
27
Issue
10
Pages
1493-1501
ISSN
  • 1018-4813 (ISSN-L)
  • 1476-5438
OpenAlex
W2946897775
Cited by
43
References
32
Citations by year
2026: 2 · 2025: 7 · 2024: 5 · 2023: 5 · 2022: 6 · 2021: 6 · 2020: 10 · 2019: 1 · 2012: 1
FWCI
3.47
Type
journal article
Language
en
Open access
Locations
  • European Journal of Human Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
  • Deakin Research Online (Deakin University) (submittedVersion)
  • Figshare (submittedVersion, cc-by)
Funders
Department of Health | National Health and Medical Research Council (GNT1113531)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
Keywords
neonatal intensive care, pediatric intensive care, clinician attitudes, intensivists, clinical geneticists, genetic counsellors, service delivery models, implementation readiness, organizational readiness, Australian hospitals
MeSH terms
Attitude of Health Personnel, Attitude to Health, Australia, Child, Genetic Testing, Humans, Infant, Newborn, Intensive Care Units, Neonatal, Genomics, Public Health Surveillance

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