Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R. Brett, Natalie B. Tan, Rachel Stapleton, Smita Kumble, Alison Yeung, Dean G. Phelan, Belinda Chong, Miriam Fanjul-Fernandez, Justine E. Marum, Matthew Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R. Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Y. TanClara L. Gaff, Susan M. White, Melbourne Genomics Health Alliance

Research output: Contribution to journalArticlepeer-review

119 Citations (Scopus)


Purpose: The purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Methods: Rapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients with suspected monogenic disorders. Laboratory and clinical barriers to imple- mentation were addressed through continuous multidisciplinary review of process parameters. Diagnostic and clinical utility and cost-effectiveness of rWES were assessed.
Results: Of 40 enrolled patients, 21 (52.5%) received a diagnosis, with median time to report of 16 days (range 9–109 days). A result was provided during the first hospital admission in 28 of 36 inpatients (78%). Clinical management changed in 12 of the 21 diagnosed patients (57%), including the provision of lifesaving treatment, avoidance of invasive biopsies, and palliative care
guidance. The cost per diagnosis was AU$13,388 (US$10,453). Additional cost savings from avoidance of planned tests and procedures and reduced length of stay are estimated to be around AU$543,178 (US$424,101). The clear relative advantage of rWES, joint clinical and laboratory leadership, and the creation of a multidisciplinary “rapid team” were key to successful implementation. Conclusion: Rapid genomic testing in acute pediatrics is not only feasible but also cost-effective, and has high diagnostic and clinical utility. It requires a whole-of-system approach for successful implementation.
Original languageEnglish
Pages (from-to)1554–1563
Number of pages10
JournalGenetics in Medicine
Issue number12
Publication statusPublished - Dec 2018


  • clinical utility
  • cost-effectiveness
  • implementation
  • rapid
  • whole-exome sequencing


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