ArticleGenome medicine2022
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.
Article in Genome medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Rapid whole-genome sequencing in the pediatric intensive care unit: from etiologic diagnosis to precision management-a narrative review.Translational pediatrics · 2026Review
- Scaling rapid whole-genome sequencing for critical pediatric care in the Middle East.Nature medicine · 2026Article
- Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.Nature medicine · 2026Article
- Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing.Scientific reports · 2026Article
- Lysosomal acid lipase deficiency: The forgotten link between liver and cardiovascular disease.World journal of cardiology · 2025Review
- Holistic precision wellness: Paving the way for next-generation precision medicine (ngPM) with AI, biomedical informatics, and clinical medicine.FASEB bioAdvances · 2025Article
- SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.American journal of human genetics · 2025Article
- Genomics of rare diseases in the Greater Middle East.Nature genetics · 2025Review
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.NPJ genomic medicine · 2024Review
- A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates.Nature medicine · 2023Article
- The clinical utility of rapid exome sequencing in a consanguineous population.Genome medicine · 2023Article
- Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.International journal of molecular sciences · 2023Article
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Authors and funding
20 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a case series of five infants (age range: 1-90 days; 4 females and 1 male) who presented to Al Jalila Children's intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani. Trio rapid whole genome sequencing (rWGS) was performed on all five patients and their parents within the hospital's genomics facility. Results were returned within ~37 h from blood sample draws and were diagnostic in 3 out of 5 patients. Positive findings were a homozygous pathogenic variant in POMT1 gene causing muscular dystrophydystroglycanopathy, a mosaic tetrasomy of the short arm of chromosome 12 (12p13.33p11.1) causing Pallister-Killian syndrome, and compound heterozygous pathogenic variants in the LIPA gene causing lysosomal acid lipase deficiency and Wolman disease. The rWGS analysis provided fast and precise diagnostic findings in those 3 patients and also aided in devising better management plans for them in the intensive care setting. For example, the 3-month-old infant with pathogenic variants in the LIPA gene is now a candidate for an FDA-approved, potentially lifesaving enzyme replacement therapy (sebelipase alfa). Our case series emphasize the feasibility and utility of rWGS in pediatric intensive care setting, in a diverse population that has long been underserved in genomic services. Significant investments in local healthcare infrastructure are needed, globally, for more equitable access of genomic medicine among vulnerable patients.
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