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The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Overview of attention for article published in npj Genomic Medicine, February 2018
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#35 of 393)
  • High Attention Score compared to outputs of the same age (95th percentile)
  • Good Attention Score compared to outputs of the same age and source (75th percentile)

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Title
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Published in
npj Genomic Medicine, February 2018
DOI 10.1038/s41525-018-0045-8
Pubmed ID
Authors

Josh E. Petrikin, Julie A. Cakici, Michelle M. Clark, Laurel K. Willig, Nathaly M. Sweeney, Emily G. Farrow, Carol J. Saunders, Isabelle Thiffault, Neil A. Miller, Lee Zellmer, Suzanne M. Herd, Anne M. Holmes, Serge Batalov, Narayanan Veeraraghavan, Laurie D. Smith, David P. Dimmock, J. Steven Leeder, Stephen F. Kingsmore

Abstract

Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results are usually reported too late to guide inpatient management. We performed an investigator-initiated, partially blinded, pragmatic, randomized, controlled trial to test the hypothesis that rapid whole-genome sequencing (rWGS) increased the proportion of NICU/PICU infants receiving a genetic diagnosis within 28 days. The participants were families with infants aged <4 months in a regional NICU and PICU, with illnesses of unknown etiology. The intervention was trio rWGS. Enrollment from October 2014 to June 2016, and follow-up until November 2016. Of all, 26 female infants, 37 male infants, and 2 infants of undetermined sex were randomized to receive rWGS plus standard genetic tests (n = 32, cases) or standard genetic tests alone (n = 33, controls). The study was terminated early due to loss of equipoise: 73% (24) controls received genomic sequencing as standard tests, and 15% (five) controls underwent compassionate cross-over to receive rWGS. Nevertheless, intention to treat analysis showed the rate of genetic diagnosis within 28 days of enrollment (the primary end-point) to be higher in cases (31%, 10 of 32) than controls (3%, 1 of 33; difference, 28% [95% CI, 10-46%];p = 0.003). Among infants enrolled in the first 25 days of life, the rate of neonatal diagnosis was higher in cases (32%, 7 of 22) than controls (0%, 0 of 23; difference, 32% [95% CI, 11-53%];p = 0.004). Median age at diagnosis (25 days [range 14-90] in cases vs. 130 days [range 37-451] in controls) and median time to diagnosis (13 days [range 1-84] in cases, vs. 107 days [range 21-429] in controls) were significantly less in cases than controls (p = 0.04). In conclusion, rWGS increased the proportion of NICU/PICU infants who received timely diagnoses of genetic diseases.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 144 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 144 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 24 17%
Other 18 13%
Student > Master 17 12%
Student > Ph. D. Student 13 9%
Student > Bachelor 9 6%
Other 23 16%
Unknown 40 28%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 38 26%
Medicine and Dentistry 27 19%
Agricultural and Biological Sciences 7 5%
Nursing and Health Professions 6 4%
Social Sciences 4 3%
Other 19 13%
Unknown 43 30%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 52. 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 11 June 2021.
All research outputs
#802,069
of 25,253,876 outputs
Outputs from npj Genomic Medicine
#35
of 393 outputs
Outputs of similar age
#19,420
of 454,861 outputs
Outputs of similar age from npj Genomic Medicine
#3
of 8 outputs
Altmetric has tracked 25,253,876 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 393 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.8. This one has done particularly well, scoring higher than 91% 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 454,861 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 95% of its contemporaries.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 5 of them.