New genomic technologies and their application in pediatric care

The development of genomic technologies has transformed pediatric practice, enabling significant advances in the diagnosis of genetic diseases, 70% of which manifest during childhood. Genomic variants, ranging from single-nucleotide changes to large chromosomal rearrangements, are responsible for many pediatric conditions, and their detection relies on the appropriate selection of technologies. Methods such as karyotyping, MLPA, microarrays, Sanger sequencing, and next-generation sequencing (NGS) have increased diagnostic capacity, although, on average, a definitive diagnosis is currently made in only 27% of pediatric cases. Gene panels and exome, genome, and RNA sequencing offer varying diagnostic yields depending on clinical complexity, with rates that may be as high as 75% in specific cohorts. Additionally, emerging technologies such as long-read sequencing and optical genome mapping have proven useful in identifying complex structural variants and repetitive genomic regions. The integration of comprehensive clinical phenotyping and tools like the Human Phenotype Ontology (HPO) standard vocabulary optimizes genetic variant prioritization and enhances diagnostic accuracy. This article reviews the capabilities, limitations and clinical applications of currently available genomic techniques, highlighting their differences, advantages and disadvantages as well as implications for diagnostics in pediatrics.