The advancements made in next‐generation sequencing (NGS) technology over the past
two decades have transformed our understanding of genetic variation in humans and had a …

Precision medicine strives for highly individualized treatments for disease under the notion
that each individual's unique genetic makeup and environmental exposures imprints upon …

Importance Although the clinical utility of genome sequencing for critically ill children is well
recognized, its utility for proactive pediatric screening is not well explored. Objective To …

Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …

Single locus (Mendelian) diseases are a leading cause of childhood hospitalization,
intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome …

The integration of genomic medicine into pediatric clinical practice is a critical need that
remains largely unmet, especially in socioeconomically challenged and rural areas where …

Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for
providing targeted and informed patient care. We report the outcomes of a pilot study …

Diagnostic genome sequencing (GS) in newborns may have many benefits. More accurate
diagnosis could spur the development of innovative genomic therapies. A precise diagnosis …

Genetic and genomic technologies can effectively diagnose numerous genetic disorders.
Patients benefit when genetic counselling accompanies genetic testing and international …

Simple Summary Overall, this review offers a comprehensive and insightful exploration of
the significance, implementation, and challenges of genomic newborn screening for …