#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

About this episode

This episode explores how RNA sequencing can resolve variants of uncertain significance and improve diagnostic processes for rare diseases.

Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics. While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases. Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Topics Covered in This Episode: RNAseq 101: What RNA sequencing is and how it complements DNA sequencing. Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss. Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care. Diagnostic Yield: How often Baylor Genetics sees clinical benefit from…

People in this episode

Host: Kira Dineen

Guest: Dr. Christine Eng

Topics covered

• RNA sequencing
• genetic diagnostics
• variants of uncertain significance
• multi-omics
• clinical impact
• diagnostic yield

Keywords

• RNAseq
• genomics
• splicing abnormalities
• diagnostic odyssey
• clinical practice
• rare diseases
• diagnostic yield

Mentioned in this episode

Organizations: Baylor Genetics, Baylor College of Medicine

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