Related Experiment Video
Updated: May 23, 2025
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
Long-term follow-up of children who received rapid genomic sequencing
Erica Sanford Kobayashi1, Laura E Tobin2, Madison Arenchild2
1Rady Children's Institute for Genomic Medicine, San Diego, CA; Division of Critical Care, Department of Pediatrics, Children's Hospital Orange County, Orange, CA.
Insights
Children receiving rapid genome sequencing (RGS) in intensive care remain high healthcare users long-term. Many patients show evolving phenotypes, highlighting the dynamic nature of pediatric critical illness.
Area of Science:
- Genomics
- Pediatric Critical Care
- Longitudinal Health Outcomes
Background:
- Rapid genome sequencing (RGS) is increasingly used in pediatric intensive care.
- Understanding the long-term health trajectories of these children is crucial.
Purpose of the Study:
- To explore the long-term health trajectories of critically ill children who underwent rapid genome sequencing (RGS).
Main Methods:
- Retrospective examination of electronic health records for 67 pediatric patients who received RGS 6-8 years prior.
- Analysis of follow-up duration, healthcare utilization, mortality, and phenotypic changes.
Main Results:
- Patients with RGS had longer follow-up (6.2 years median) and increased subspecialty visits.
- 9% mortality, 2.1 readmissions/year, and 28.1 hospitalized days/year were observed.
- 66% had new documented phenotypes, and reanalysis identified new candidate diagnoses.
Conclusions:
- Pediatric patients undergoing RGS in the ICU are high healthcare utilizers post-discharge.
- Significant phenotypic evolution occurs in the years following RGS, irrespective of initial diagnosis.
Purpose:
To explore long-term trajectories of children who received rapid genome sequencing (RGS) in intensive care settings.
Methods:
We examined the electronic health records of 67 critically ill pediatric patients who received RGS 6 to 8 years ago with a collective initial diagnostic yield of 46%.
Results:
The median length of follow-up was 6.2 years (interquartile range 4.0-7.2 years). RGS-diagnosed patients had a longer average follow-up time compared with undiagnosed patients (5.9 years vs 4.8 years, P = .026) and more subspecialty appointments per follow-up year (9.4 vs 6.9, P = .036). Mortality during the follow-up period was 9%. Patients averaged 2.1 hospital readmissions per follow-up year and 28.1 hospitalized days per follow-up year. Forty-four patients (66%) had a documented new phenotype in the electronic health records during their follow-up period. Seven patients received clinician-driven reanalysis during the follow-up period, yielding 1 new diagnosis. Systematic reanalysis of RGS performed as part of this study identified 4 new candidate diagnoses.
Conclusion:
Pediatric patients who receive RGS during intensive care unit hospitalizations continue to be high health care utilizers in subsequent years, regardless of whether RGS identified a diagnosis. Additionally, two-thirds of this cohort had a documented phenotypic change over the follow-up period, indicating dynamic clinical evolution in the years after RGS.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Related Concept Videos
03:00Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
01:57Sanger Sequencing
02:02Genomics
01:05Maxam-Gilbert Sequencing
Challenges of the Maxam-Gilbert Method
The...