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Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.
Stark, Zornitza; Nisselle, Amy; McClaren, Belinda; Lynch, Fiona; Best, Stephanie; Long, Janet C; Martyn, Melissa; Patel, Chirag; Schlapbach, Luregn J; Barnett, Christopher; Theda, Christiane; Pinner, Jason; Dinger, Marcel E; Lunke, Sebastian; Gaff, Clara L.
Affiliation
  • Stark Z; Australian Genomics Health Alliance, Melbourne, Australia. zornitza.stark@vcgs.org.au.
  • Nisselle A; University of Melbourne, Melbourne, Australia. zornitza.stark@vcgs.org.au.
  • McClaren B; Murdoch Children's Research Institute, Melbourne, Australia. zornitza.stark@vcgs.org.au.
  • Lynch F; Australian Genomics Health Alliance, Melbourne, Australia.
  • Best S; University of Melbourne, Melbourne, Australia.
  • Long JC; Murdoch Children's Research Institute, Melbourne, Australia.
  • Martyn M; Australian Genomics Health Alliance, Melbourne, Australia.
  • Patel C; University of Melbourne, Melbourne, Australia.
  • Schlapbach LJ; Murdoch Children's Research Institute, Melbourne, Australia.
  • Barnett C; Australian Genomics Health Alliance, Melbourne, Australia.
  • Theda C; University of Melbourne, Melbourne, Australia.
  • Pinner J; Murdoch Children's Research Institute, Melbourne, Australia.
  • Dinger ME; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia.
  • Lunke S; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia.
  • Gaff CL; University of Melbourne, Melbourne, Australia.
Eur J Hum Genet ; 27(10): 1493-1501, 2019 10.
Article in En | MEDLINE | ID: mdl-31148592
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.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Attitude of Health Personnel / Attitude to Health / Intensive Care Units, Neonatal / Genetic Testing / Genomics Type of study: Clinical_trials / Prognostic_studies Limits: Child / Humans / Newborn Country/Region as subject: Oceania Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Australia

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Attitude of Health Personnel / Attitude to Health / Intensive Care Units, Neonatal / Genetic Testing / Genomics Type of study: Clinical_trials / Prognostic_studies Limits: Child / Humans / Newborn Country/Region as subject: Oceania Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Australia