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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

Overview of attention for article published in Italian Journal of Pediatrics, November 2017
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  • Good Attention Score compared to outputs of the same age (69th percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

Mentioned by

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7 tweeters

Citations

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29 Dimensions

Readers on

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54 Mendeley
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Title
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant
Published in
Italian Journal of Pediatrics, November 2017
DOI 10.1186/s13052-017-0418-0
Pubmed ID
Authors

Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello

Abstract

The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, especially in the setting of critical clinical conditions. The differential diagnosis process in the neonatal intensive care unit (NICU) may be time-consuming, uncomfortable for the patient due to repeated sampling, and ineffective in reaching a molecular diagnosis during NICU stay. Serial gene sequencing (Sanger sequencing) may be successful only for conditions for which the clinical phenotype strongly suggests a diagnostic hypothesis and for genetically homogeneous diseases. Newborn screenings with Guthrie cards, which vary from country to country, are designed to only test for a few dozen genetic diseases out of the more than 6000 diseases for which a genetic characterization is available. The use of WES in selected cases in the NICU may overcome these issues. We present an intersociety document that aims to define the best indications for the use of WES in different clinical scenarios in the NICU. We propose that WES is used in the NICU for critically ill newborn infants when an early diagnosis is desirable to guide the clinical management during NICU stay, when a strong hypothesis cannot be formulated based on the clinical phenotype or the disease is genetically heterogeneous, and when specific non-genetic laboratory tests are not available. The use of WES may reduce the time for diagnosis in infants during NICU stay and may eventually result in cost-effectiveness.

Twitter Demographics

The data shown below were collected from the profiles of 7 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 54 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 54 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 9 17%
Other 7 13%
Student > Postgraduate 6 11%
Student > Master 6 11%
Student > Bachelor 5 9%
Other 12 22%
Unknown 9 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 15 28%
Medicine and Dentistry 9 17%
Agricultural and Biological Sciences 8 15%
Nursing and Health Professions 4 7%
Pharmacology, Toxicology and Pharmaceutical Science 3 6%
Other 3 6%
Unknown 12 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 18 April 2018.
All research outputs
#4,437,274
of 16,534,657 outputs
Outputs from Italian Journal of Pediatrics
#111
of 633 outputs
Outputs of similar age
#100,265
of 325,704 outputs
Outputs of similar age from Italian Journal of Pediatrics
#9
of 45 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 633 research outputs from this source. They receive a mean Attention Score of 5.0. This one has done well, scoring higher than 82% 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 325,704 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.
We're also able to compare this research output to 45 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.