Genome sequencing is no longer the future of genomic medicine; it's here. What do clinicians actually need from it to deliver better answers for patients and families?
In this fireside chat, Dr. TJ Slavin and Dr. Robert Green talk about what makes a clinical genome meaningful in real-world care, and why more data alone doesn't always lead to better answers. Topics include:
- Looking beyond coding regions, and how functional RNA evidence from GenomeReveal™ can help clarify uncertain variants
- Why genomic interpretation has historically been harder across diverse populations, and how pangenome-enabled analysis helps address those gaps
- Why ongoing reanalysis matters, and how Patient for Life™, Ambry's lab-driven reanalysis program, keeps evaluating genomic data as new evidence emerges
- Connecting a diagnosis to what comes next, from care decisions to clinical trials to treatment
GenomeNext™ is Ambry Genetics' clinical genome, built with intention and designed for real-world care.
Speakers
Dr. TJ Slavin - Chief Medical Officer, Ambry Genetics
Dr. Robert Green - Director, G2P Research Program
A Glimpse Into Our Scientific Capabilities
Long-Read Genome + Whole Transcriptome Research
Ambry is conducting ongoing long-read whole genome and whole transcriptome studies in unsolved rare disease. These efforts advance detection of complex variant classes and generate high-quality data that strengthen interpretation and inform the evolution of our clinical genome.
Patient for Life™ Program
Proactive reanalysis applies new discoveries to patient data over time, making the exome and genome a living test that evolves with each patient to increase diagnostic yield and keep reports current.
Advanced RNA Analysis
With over 1,000,000 RNA analyses completed since 2019, Ambry applies deep RNA expertise to improve variant interpretation and resolve splicing variants, supporting more accurate and clinically actionable exome and genome results.
Read more...
Impact of Laboratory-Driven Proactive Reanalysis: Reclassification to Positive in 5% of Initially Negative or Uncertain Exome Sequencing Cases
Ambry Genetics Announces 10-Year Study in Genetics in Medicine Highlighting the Impact of Proactive Exome Reanalysis for Healthcare Equity
RNA-guided Clarity: The Potential for Resolving Variant Uncertainty in Clinical Exome Sequencing
Grace E. VanNoy, MS, CGC | Genetics in Medicine | January 2026
Questions? Contact Us.
info@ambrygen.com (949) 900-5500