We're excited to share that Dr. Peter Nagy, Chief Medical Officer at Praxis Genomics, was recently featured on the DNA Today podcast to discuss the latest advances in genomic diagnostics and how our multi-platform approach is solving previously unsolvable cases.
About DNA Today
DNA Today is a leading podcast that explores the latest developments in genetics and genomics, making complex scientific topics accessible to healthcare providers, genetic counselors, patients, and anyone interested in the future of personalized medicine.
Key Discussion Topics
During the episode, Dr. Nagy covered several groundbreaking technologies and their clinical applications:
Optical Genome Mapping: A New Lens on Chromosomal Structure
Optical genome mapping (OGM) represents a paradigm shift in how we visualize and analyze chromosomal architecture. Unlike traditional methods:
- Detects structural variants across the entire genome without PCR amplification bias
- Identifies balanced translocations, inversions, and complex rearrangements invisible to microarray
- Provides long-range genomic context that short-read sequencing cannot capture
- Offers significantly faster turnaround than traditional cytogenetic methods
Transcriptome Analysis: Understanding Gene Function
While DNA sequencing tells us what variants are present, transcriptome analysis (RNA sequencing) reveals:
- Whether variants actually affect gene expression levels
- Identification of aberrant splicing events not predicted from DNA alone
- Detection of fusion genes in cancer diagnostics
- Validation of variant pathogenicity through functional evidence
The Power of Integration
Dr. Nagy emphasized that the real diagnostic breakthrough comes from combining these technologies:
- Whole Genome Sequencing for nucleotide-level variant detection
- Optical Genome Mapping for structural variant analysis
- Transcriptome Analysis for functional validation
This multi-platform approach increases diagnostic yield from approximately 30-40% (whole exome sequencing alone) to over 60% in complex cases.
Real-World Impact
Dr. Nagy shared several compelling case examples where this integrated approach provided answers for families who had been searching for a diagnosis for years. These stories highlighted:
- The emotional impact of receiving a molecular diagnosis after a long diagnostic odyssey
- How comprehensive genomic testing changes clinical management and family planning
- The importance of continuous technological innovation in rare disease diagnostics
Looking Forward
The conversation concluded with Dr. Nagy's vision for the future of genomic medicine, including:
- Expanding access to comprehensive genomic testing
- Integration of long-read sequencing technologies
- Development of AI-powered variant interpretation tools
- Continued emphasis on functional validation of genetic variants
Listen to the full episode: DNA Today Podcast - Episode 268
Interested in learning more about our comprehensive diagnostic approach? Schedule a consultation with our team.
