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

Overview of attention for article published in Genetics in Medicine, March 2018
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (96th percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

Mentioned by

news
1 news outlet
blogs
1 blog
policy
1 policy source
twitter
102 X users
facebook
5 Facebook pages

Citations

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126 Dimensions

Readers on

mendeley
122 Mendeley
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Title
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Published in
Genetics in Medicine, March 2018
DOI 10.1038/gim.2018.37
Pubmed ID
Authors

Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha 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 Tan, Clara L Gaff, Susan M White, Melbourne Genomics Health Alliance

Abstract

PurposeThe purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers.MethodsRapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients with suspected monogenic disorders. Laboratory and clinical barriers to implementation were addressed through continuous multidisciplinary review of process parameters. Diagnostic and clinical utility and cost-effectiveness of rWES were assessed.ResultsOf 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.ConclusionRapid 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.GENETICS in MEDICINE advance online publication, 15 March 2018; doi:10.1038/gim.2018.37.

X Demographics

X Demographics

The data shown below were collected from the profiles of 102 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 122 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 122 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 22 18%
Student > Master 17 14%
Other 13 11%
Student > Ph. D. Student 10 8%
Student > Bachelor 6 5%
Other 19 16%
Unknown 35 29%
Readers by discipline Count As %
Medicine and Dentistry 26 21%
Biochemistry, Genetics and Molecular Biology 21 17%
Social Sciences 7 6%
Agricultural and Biological Sciences 6 5%
Nursing and Health Professions 4 3%
Other 16 13%
Unknown 42 34%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 80. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 September 2022.
All research outputs
#542,300
of 26,017,215 outputs
Outputs from Genetics in Medicine
#139
of 2,970 outputs
Outputs of similar age
#12,461
of 354,663 outputs
Outputs of similar age from Genetics in Medicine
#6
of 65 outputs
Altmetric has tracked 26,017,215 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,970 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.1. This one has done particularly well, scoring higher than 95% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 354,663 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 96% of its contemporaries.
We're also able to compare this research output to 65 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 90% of its contemporaries.