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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
- Source :
- American journal of human genetics, vol 107, iss 5
- Publication Year :
- 2020
- Publisher :
- eScholarship, University of California, 2020.
-
Abstract
- 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). The primary end-point-clinician perception that RGS was useful- was met for 154 (77%) of 201 infants. Both positive and negative tests were rated as having clinical utility (42 of 45 [93%] and 112 of 156 [72%], respectively). Physicians reported that RGS changed clinical management in 57 (28%) infants, particularly in those receiving urWGS (p = 0.0001) and positive tests (p < 0.00001). Outcomes of 32 (15%) infants were perceived to be changed by RGS. Positive tests changed outcomes more frequently than negative tests (p < 0.00001). In logistic regression models, the likelihood that RGS was perceived as useful increased 6.7-fold when associated with changes in management (95% CI 1.8-43.3). Changes in management were 10.1-fold more likely when results were positive (95% CI 4.7-22.4) and turnaround time was shorter (odds ratio 0.92, 95% CI 0.85-0.99). RGS seldom led to clinician-perceived confusion or distress among families (6 of 207 [3%]). In summary, clinicians perceived high clinical utility and low likelihood of harm with first-tier RGS of infants in ICUs with diseases of unknown etiology. RGS was perceived as beneficial irrespective of whether results were positive or negative.
- Subjects :
- Male
ultra-rapid whole-genome sequencing
healthcare cost-benefit analysis
Time Factors
Critical Illness
RCIGM Investigators
Clinical Decision-Making
rapid whole-exome sequencing
Clinical Trials and Supportive Activities
clinical utility
rapid whole-genome sequencing
Medical and Health Sciences
Clinical Research
Neonatal
Genetics
Humans
Prospective Studies
Genetic Testing
Pediatric
Genetics & Heredity
Genome
Whole Genome Sequencing
Human Genome
Chromosome Mapping
Infant
Disease Management
Biological Sciences
Newborn
neonatal intensive care unit
Intensive Care Units
Inborn
Logistic Models
Good Health and Well Being
Genetic Diseases
diagnostic testing outcomes
Female
NSIGHT2
pediatric intensive care unit
Human
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- American journal of human genetics, vol 107, iss 5
- Accession number :
- edsair.od.......325..d817f365d9f905babeedbf0ed1169035