The promise of precision medicine: A focus on genomics and bioinformatics

Chromosomal rearrangements leading to the generation of gene fusions are more common in pediatric malignancies compared to adults and possess diagnostic and prognostic value. Identification of novel gene fusions provides a means for patient stratification and the foundation for the development of targeted therapeutics. The innovations discussed will include: the development of custom Next Generation Sequencing (NGS) gene panels for pediatric leukemias, and a newborn screening assay that detects germline events in high-risk populations.