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Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
Eur J Hum Genet
September 2024
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Next generation sequencing based diagnosis has emerged as a promising tool for evaluating critically ill neonates and children. However, there is limited data on its utility in developing countries. We assessed its diagnostic rate and clinical impact on management of pediatric patients with a suspected genetic disorder requiring critical care.
View Article and Find Full Text PDFRecent advances in neurometabolic diseases: The genetic role in the modern era.
Epilepsy Behav
August 2023
Division of Neurology, Dept. of Pediatrics and Dept. of Laboratory Medicine and Pathobiology, The Genetics and Genome Biology Program, The Research Institute, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada M5G 1X8. Electronic address:
The global birth prevalence of all inborn errors of metabolism (IEMs) in children (49 studies, 1980-2017) is approximately 50.9/100,000 live births. Regional pooled birth prevalence showed higher rates in Eastern Mediterranean regions (75.
View Article and Find Full Text PDFBetter and faster is cheaper.
Hum Mutat
November 2022
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
The rapid pace of advancement in genomic sequencing technology has recently reached a new milestone, with a record-setting time to molecular diagnosis of a mere 8 h. The catalyst behind this achievement is the accumulation of evidence indicating that quicker results more often make an impact on patient care and lead to healthcare cost savings. Herein, we review the diagnostic and clinical utility of rapid whole genome and rapid whole exome sequencing, the associated reduction in healthcare costs, and the relationship between these outcome measures and time-to-diagnosis.
View Article and Find Full Text PDFA Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
Am J Hum Genet
November 2020
Department of Family Medicine and Public Health, University of California San Diego, San Diego, CA 92093, USA; Department of Psychiatry, University of California San Diego, San Diego, CA 92093, USA. Electronic address:
Rapid diagnostic genomic sequencing recently became feasible for infants in intensive care units (ICUs). However, research regarding parents' perceived utility, adequacy of consent, and potential harms and benefits is lacking. Herein we report results of parental surveys of these domains from the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study, a randomized, controlled trial of rapid diagnostic genomic sequencing of infants in regional ICUs.
View Article and Find Full Text PDFAn RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Am J Hum Genet
November 2020
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA.
The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing (rWGS) or rapid whole-exome sequencing (rWES) in infants with diseases of unknown etiology in intensive care units (ICUs). Gravely ill infants were not randomized and received ultra-rapid whole-genome sequencing (urWGS). Herein we report results of clinician surveys of the clinical utility of rapid genomic sequencing (RGS).
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