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Precision medicine in the pediatric and neonatal intensive care units through genomics
Phan Q Duy1,2, Benjamin Dylik3, Engin Deniz3,4
1Department of Neuroscience.
Insights
Genomic sequencing rapidly diagnoses pediatric disorders in intensive care, guiding treatment and revealing disease causes. This technology promises future gene therapies for childhood genetic conditions.
Area of Science:
- Genomics
- Pediatric Medicine
- Precision Medicine
Background:
- Genome-wide sequencing has transformed understanding of human disorders.
- Genomic technologies are crucial for advancing pediatric care, particularly in intensive care settings.
Purpose of the Study:
- To discuss the utility of genomic technologies in improving care for children in pediatric and neonatal intensive care units.
Main Methods:
- Review of current genomic technologies and their applications in pediatric intensive care.
Main Results:
- Rapid molecular diagnosis via genomic medicine provides actionable findings influencing clinical decisions and interventions.
- Genetic associations reveal disease biology and heterogeneity missed by traditional diagnostics.
- Emerging gene therapies offer potential to correct underlying genetic defects in childhood conditions.
Conclusions:
- Whole-genome sequencing, combined with other omic technologies, is predicted to become essential for diagnosing critically ill children.
Purpose Of Review:
Genome-wide sequencing technologies have revolutionized the understanding of human disorders and advanced precision medicine, especially for pediatric disorders. Here, we discuss the utility of genomic technologies in advancing the care of children admitted to the pediatric and neonatal intensive care units.
Recent Findings:
Rapid molecular diagnosis permitted by genomic medicine has yielded clinically actionable findings that influence decision-making and facilitate timely therapeutic interventions. Identifying a genetic association provides a causal anchor to understanding disease biology at the single nucleotide resolution, revealing hidden biological heterogeneity that may be obscured by traditional imaging, laboratory, and pathological workup. The importance of a genetic diagnosis is further highlighted by the promise of gene therapy to correct the underlying genetic perturbation, as evidenced by the recent emergence of FDA-approved gene therapies for childhood genetic conditions.
Summary:
We predict that whole-genome sequencing, in conjunction with other omic technologies, will become critical diagnostic adjuncts in the clinical workup of critically ill children.
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