We're excited to share that Dr. Peter Nagy, Chief Medical Officer of Praxis Genomics, presented at the 2023 American Society of Human Genetics (ASHG) Annual Meeting, the world's premier forum for genetics and genomics research.
About ASHG
The American Society of Human Genetics Annual Meeting brings together over 8,000 researchers, clinicians, genetic counselors, and industry leaders from around the world to share the latest advances in human genetics and genomics. Presenting at ASHG represents a significant recognition of innovative and impactful research.
Presentation Overview: A New Paradigm
Dr. Nagy's presentation, titled "A New Paradigm for Genomic Diagnosis: Combining Optical Genome Mapping, Whole Genome Sequencing and Transcriptome Analysis," introduced attendees to our integrated multi-platform diagnostic approach.
The Challenge: Single-Technology Limitations
Traditional genetic testing typically relies on sequential application of individual technologies:
- Chromosomal microarray to detect copy number variants
- Whole exome or genome sequencing to identify sequence variants
- Targeted follow-up testing when initial results are inconclusive
This approach leaves diagnostic gaps—structural variants invisible to arrays, sequence variants difficult to interpret, and functional consequences that can't be predicted from DNA sequence alone.
Our Solution: Integrated Multi-Platform Testing
Dr. Nagy presented data demonstrating how simultaneous application of three complementary technologies dramatically increases diagnostic yield:
1. Optical Genome Mapping (OGM)
- Detects structural variants across the entire genome
- Identifies balanced rearrangements invisible to microarray
- Provides long-range genomic context
2. Whole Genome Sequencing (WGS)
- Captures sequence variants including SNVs and small indels
- Provides comprehensive coverage beyond coding regions
- Enables detection of complex variants
3. Transcriptome Analysis (RNA-seq)
- Validates functional impact of detected variants
- Identifies aberrant splicing not predicted from DNA
- Detects expression changes and allele-specific effects
Clinical Outcomes
The presentation highlighted compelling case examples where this integrated approach succeeded after traditional testing failed:
- Complex structural rearrangements detected by OGM that explained neurodevelopmental phenotypes
- Pathogenic variants in non-coding regulatory regions identified through combined WGS and RNA-seq
- Cryptic splice variants revealed by transcriptome analysis despite normal DNA sequence
Diagnostic Yield Improvements
Dr. Nagy presented data showing diagnostic yield increases from approximately 30-40% with whole exome sequencing alone to over 60% when employing the integrated multi-platform approach—a transformative improvement for patients and families who have experienced long diagnostic odysseys.
Community Response
The presentation generated significant interest from the genetics community, with extensive discussion about implementing similar approaches in other diagnostic laboratories and research institutions. Many attendees recognized the potential for this paradigm to become the new standard of care for complex genetic disorders.
Our Commitment to Innovation
Presenting at ASHG reflects our ongoing commitment to advancing the field of genomic medicine. We believe that sharing our findings with the scientific community accelerates progress and ultimately benefits patients worldwide.
View the presentation: ASHG 2023 Abstract
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