Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

Stephanie Best, Helen Brown, Sebastian Lunke, Chirag Patel, Jason Pinner, Christopher P. Barnett, Meredith Wilson, Sarah A. Sandaradura, Belinda McClaren, Gemma R. Brett, Jeffrey Braithwaite, Zornitza Stark

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)
24 Downloads (Pure)


In scaling up an ultra-rapid genomics program, we used implementation science principles to design and investigate influences on implementation and identify strategies required for sustainable “real-world” services. Interviews with key professionals revealed the importance of networks and relationship building, leadership, culture, and the relative advantage afforded by ultra-rapid genomics in the care of critically ill children. Although clinical geneticists focused on intervention characteristics and the fit with patient-centered care, intensivists emphasized the importance of access to knowledge, in particular from clinical geneticists. The relative advantage of ultra-rapid genomics and trust in consistent and transparent delivery were significant in creating engagement at initial implementation, with appropriate resourcing highlighted as important for longer term sustainability of implementation. Our findings demonstrate where common approaches can be used and, significantly, where there is a need to tailor support by professional role and implementation phase, to maximize the potential of ultra-rapid genomic testing to improve patient care.
Original languageEnglish
Article number5
Pages (from-to)1-9
Number of pages9
Journalnpj Genomic Medicine
Issue number1
Publication statusPublished - 28 Jan 2021

Bibliographical note

Copyright the Author(s) 2021. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


  • genomic testing;
  • neonatal and pediatric intensive care;
  • implementation science;
  • Consolidated Framework for Implementation Research;
  • scaling up


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