Review article
https://doi.org/10.26800/LV-145-supl5-12
The future of whole genome sequencing in pediatrics
Petar Brlek
; Specijalna bolnica Sv. Katarina, 10000 Zagreb
Dragan Primorac
orcid.org/0000-0001-5565-080X
; Specijalna bolnica Sv. Katarina, 10000 Zagreb
*
* Corresponding author.
Abstract
Whole Genome Sequencing (WGS) is becoming a genetic diagnostic test of choice in everyday
clinical practice. The Medical Genome Initiative (MGI) has recognized WGS as a priority diagnostic method for detecting rare genetic diseases. One key advantage of WGS over Whole Exome Sequencing (WES) is its ability to analyze non-coding regions of the genome, which make up approximately 98.5% of our DNA. These regions contain repetitive sequences, sequences that encode non-coding RNA molecules, and numerous regulatory elements
crucial for controlling gene expression. The application of WGS holds significant potential in pediatrics and represents the future of genetic disease diagnosis in children. Implementing WGS into routine pediatric practice offers new possibilities for personalized medicine and improving the health of the pediatric population, including preventive interventions to avoid the development of multifactorial diseases such as diabetes and obesity. In pharmacogenomics, WGS enables personalized drug dosing based on a person’s genetic profile, reducing side
effects and increasing treatment effectiveness. In the field of pediatric oncology, WGS allows for personalized therapy and monitoring of tumor progression. Continued advancements in genome sequencing technology and cost reduction will increase the availability and application of WGS in clinical practice, opening new avenues for individualized medicine and enhancing the health of the pediatric population.
Keywords
Hrčak ID:
309000
URI
Publication date:
10.10.2023.
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