From Microscope to Molecule: Chromosome Abnormality Testing in the Era of NGS

This presentation will provide an overview of genomic assays currently used in clinical laboratories to detect large genomic abnormalities associated with human disease. The discussion will encompass karyotype analysis, fluorescence in situ hybridization (FISH), chromosomal microarray analysis, copy number profiling from next-generation sequencing (NGS) data, optical genome mapping (OGM), and fusion detection from transcriptome sequencing (RNA-Seq). Experience from the Center for Personalized Medicine at Children’s Hospital Los Angeles (CHLA) will be highlighted to illustrate practical applications of these technologies. The presentation will compare the advantages and limitations of each assay and outline the key principles guiding the selection of the optimal testing approach for different clinical scenarios and laboratory settings.

Lecture Presenter
Gordana Raca, MD, PhD, F(ACMG)
Gordana Raca, MD, PhD, FACMG
Professor of Clinical Pathology, Keck School of Medicine of USC
Director, Clinical Cytogenomics, Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles

Dr. Gordana Raca is the Director of Cytogenomics at the Center for Personalized Medicine, Department of Pathology and Laboratory Medicine at Children’s Hospital Los Angeles, and Professor of Clinical Pathology at the Keck School of Medicine at the University of Southern California. Dr. Raca’s research and clinical interests are focused on genetic and genomic abnormalities in hematologic malignancies, and on the use of cytogenomic and molecular techniques (including Chromosomal Microarrays, Next Generation Sequencing and Optical Genome Mapping) for detection of copy number changes and balanced rearrangements in genomic DNA.

Dr. Raca is the Past-President of the Cancer Genomics Consortium and Pas Chair of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee, and currently serves on the Children’s Oncology Group Cytogenetics Steering Committee, and ClinGen Somatic Clinical Domain Working Group.

Objectives

After this presentation, participants will be able to:

Describe the important role of large genomic abnormalities (copy number variants and balanced structural rearrangements) in pathogenesis of constitutional genetic disorders and pediatric cancers
Discuss advantages, limitations and clinical applications of different assays for detection of large genomic abnormalities including karyotyping, FISH, chromosomal microarray analysis, copy number profiling from next-generation sequencing (NGS) data, optical genome mapping (OGM), and fusion detection from transcriptome sequencing (RNA-Seq)
Review principles guiding selection of optimal assays for different clinical indications and laboratory settings