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Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses
En-Ting Wu1, Wuh-Liang Hwu1,2, Yin-Hsiu Chien1,2
1Department of Paediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Insights
Whole-exome sequencing rapidly diagnosed genetic conditions in critically ill children, improving timely management and resource use in pediatric intensive care units (PICUs). This cost-effective approach aids rare disease diagnosis for severe pediatric illnesses.
Area of Science:
- Medical Genetics
- Pediatric Critical Care
Background:
- Undiagnosed genetic conditions pose significant challenges in pediatric intensive care units (PICUs).
- Whole-exome sequencing (WES) is a powerful diagnostic tool but often faces limitations in cost and turnaround time for critical cases.
Purpose of the Study:
- To assess the feasibility and efficacy of a rapid, cost-effective whole-exome sequencing (WES) approach for diagnosing rare genetic diseases in critically ill pediatric patients.
- To improve diagnostic yield and inform clinical management in a timely manner within the PICU setting.
Main Methods:
- Utilized a fast, standard whole-exome sequencing (WES) platform combined with text mining for variant prioritization.
- Analyzed data from critically ill pediatric patients suspected of genetic disorders over a 1-year period in a tertiary referral hospital.
Main Results:
- Achieved a molecular diagnosis for 52.5% of patients (21/40) within an average of 6.2 working days.
- Identified previously unreported mutations in Taiwan, leading to altered clinical management for 81% of diagnosed patients.
- Recommended specific treatments, including medications and transplantation, for a significant portion of diagnosed individuals.
Conclusions:
- The implemented WES algorithm offers a balanced approach to cost and speed for uncovering genetic conditions in critically ill infants and children.
- This rapid diagnostic capability in PICUs facilitates timely patient management and optimizes resource utilization.
Objectives:
Critical illnesses caused by undiagnosed genetic conditions are challenging in PICUs. Whole-exome sequencing is a powerful diagnostic tool but usually costly and often fail to arrive at a final diagnosis in a short period. We assessed the feasibility of our whole-exome sequencing as a tool to improve the efficacy of rare diseases diagnosis for pediatric patients with severe illness.
Design:
Observational analysis.
Method:
We employed a fast but standard whole-exome sequencing platform together with text mining-assisted variant prioritization in PICU setting over a 1-year period.
Setting:
A tertiary referral Children's Hospital in Taiwan.
Patients:
Critically ill PICU patients suspected of having a genetic disease and newborns who were suspected of having a serious genetic disease after newborn screening were enrolled.
Interventions:
None.
Measurements And Main Results:
Around 50,000 to 100,000 variants were obtained for each of the 40 patients in 5 days after blood sampling. Eleven patients were immediately found be affected by previously reported mutations after searching mutation databases. Another seven patients had a diagnosis among the top five in a list ranked by text mining. As a whole, 21 patients (52.5%) obtained a diagnosis in 6.2 ± 1.1 working days (range, 4.3-9 d). Most of the diagnoses were first recognized in Taiwan. Specific medications were recommended for 10 patients (10/21, 47.6%), transplantation was advised for five, and hospice care was suggested for two patients. Overall, clinical management was altered in time for 81.0% of patients who had a molecular diagnosis.
Conclusions:
The current whole-exome sequencing algorithm, balanced in cost and speed, uncovers genetic conditions in infants and children in PICU, which helps their managements in time and promotes better utilization of PICU resources.
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