An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
| Autor: | Dimmock, David P, Clark, Michelle M, Gaughran, Mary, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M, Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S, Kingsmore, Stephen F, RCIGM Investigators |
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| Rok vydání: | 2020 |
| Předmět: |
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 |
| Zdroj: | American journal of human genetics, vol 107, iss 5 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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