Publications by authors named "Sara A Caylor"
Article Synopsis
- Recent advancements in rapid diagnostic genomic sequencing for infants in ICUs show that over 90% of parents felt adequately informed to consent, with 97% finding the testing useful despite only 23% receiving genomic diagnoses.
- The study indicates low levels of harm reported by families, with only 4.3% citing negative impacts, primarily related to confusion or stress, and the majority of infants having positive impacts from the tests.
- Overall, most parents viewed rapid genomic sequencing as beneficial, felt they understood the process and their child's results, and expressed minimal regret or harm from participating in the study.
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).
View Article and Find Full Text PDFThe second Newborn Sequencing in Genomic Medicine and Public Health study was a randomized, controlled trial of the effectiveness of rapid whole-genome or -exome sequencing (rWGS or rWES, respectively) in seriously ill infants with diseases of unknown etiology. Here we report comparisons of analytic and diagnostic performance. Of 1,248 ill inpatient infants, 578 (46%) had diseases of unknown etiology.
View Article and Find Full Text PDFBy informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and pediatric intensive care units (ICUs). The need for highly qualified professionals to decipher results, however, precludes widespread implementation. We describe a platform for population-scale, provisional diagnosis of genetic diseases with automated phenotyping and interpretation.
View Article and Find Full Text PDF