Efficiency of Rapid Whole-Genome Sequencing in Pediatric Intensive Care Units: Experience in a Diverse Population
8 affiliations
- 1Division of Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA
- 2Division of General Pediatrics and Community Health, Children’s National Hospital, Washington, DC 20010, USA
- 3Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC 20052, USA
- 4The Unterberg Children’s Hospital, Monmouth Medical Center, Long Branch, NJ 07740, USA
- 5Rutgers New Jersey Medical School, Newark, NJ 07103, USA
- 6Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA
- 7Department of Neonatology, Department of Pediatrics, Childrens’ Hospital of New Jersey, Beth Israel Medical Center, Newark, NJ 07112, USA
- 8General Pediatrics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA
Abstract
Single-gene disorders are a common cause of infant and young children’s mortality in intensive care units. Many of these genetic disorders have available treatments that may slow disease progression and improve patients’ quality of life. However, clinicians often identify the underlying genetic etiology late in the disease course, when available treatments cannot reverse disease progression. Rapid whole-genome sequencing (RWGS) is increasingly used for early diagnosis of patients with rare disorders. It remains unclear which clinical indications are most efficient for providing actionable genetic diagnoses. It is also not well studied how efficient RWGS is in diverse populations where population genomic data is less abundant. We present RWGS results over a three-year period from four medical centers within a large hospital system in the State of New Jersey, which has one of the most diverse populations in the United States. The patients were referred to RWGS testing from the NICU and PICU units for various severe/life-threatening manifestations. All patients were tested at one laboratory center using the same technology for genome sequencing and analysis, as described, to eliminate possible interlaboratory variation in test efficiency. We identified a causative genetic etiology in 19 (36.5%) of the 52 tested individuals. We observed the highest yield of positive diagnoses in patients with unexplained failure to thrive (FTT). The genetic diagnoses were actionable for disease-specific, supportive, or progression-slowing targeted treatments, better-informed genetic counseling, or modifying the level of care for most positive individuals. Our study provides information on the test efficiency of RWGS in diverse populations and compares testing efficiency across leading referral indications. The study may help guide referral decisions for such testing.
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BibTeX
@article{simotas2026efficiency,
title = {{Efficiency of Rapid Whole-Genome Sequencing in Pediatric Intensive Care Units: Experience in a Diverse Population}},
author = {Christopher Simotas and Kaitlyn Kurtz and Aline Sandouk and Christina Botti and Aadya Chawla and Christina Kresge and Katarzyna Ellsworth and Deepti Purohit and Meera Kale and Milen Velinov},
journal = {International Journal of Molecular Sciences},
year = {2026},
month = oct,
doi = {10.3390/ijms27209262},
url = {https://www.mdpi.com/1422-0067/27/20/9262},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Efficiency of Rapid Whole-Genome Sequencing in Pediatric Intensive Care Units: Experience in a Diverse Population
AU - Christopher Simotas
AU - Kaitlyn Kurtz
AU - Aline Sandouk
AU - Christina Botti
AU - Aadya Chawla
AU - Christina Kresge
AU - Katarzyna Ellsworth
AU - Deepti Purohit
AU - Meera Kale
AU - Milen Velinov
PY - 2026
DA - 2026/10/01
JO - International Journal of Molecular Sciences
DO - 10.3390/ijms27209262
UR - https://www.mdpi.com/1422-0067/27/20/9262
AB - Single-gene disorders are a common cause of infant and young children’s mortality in intensive care units. Many of these genetic disorders have available treatments that may slow disease progression and improve patients’ quality of life. However, clinicians often identify the underlying genetic etiology late in the disease course, when available treatments cannot reverse disease progression. Rapid whole-genome sequencing (RWGS) is increasingly used for early diagnosis of patients with rare disorders. It remains unclear which clinical indications are most efficient for providing actionable genetic diagnoses. It is also not well studied how efficient RWGS is in diverse populations where population genomic data is less abundant. We present RWGS results over a three-year period from four medical centers within a large hospital system in the State of New Jersey, which has one of the most diverse populations in the United States. The patients were referred to RWGS testing from the NICU and PICU units for various severe/life-threatening manifestations. All patients were tested at one laboratory center using the same technology for genome sequencing and analysis, as described, to eliminate possible interlaboratory variation in test efficiency. We identified a causative genetic etiology in 19 (36.5%) of the 52 tested individuals. We observed the highest yield of positive diagnoses in patients with unexplained failure to thrive (FTT). The genetic diagnoses were actionable for disease-specific, supportive, or progression-slowing targeted treatments, better-informed genetic counseling, or modifying the level of care for most positive individuals. Our study provides information on the test efficiency of RWGS in diverse populations and compares testing efficiency across leading referral indications. The study may help guide referral decisions for such testing.
SN - 1422-0067
ER -