Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.
Adding RNA sequencing to genetic testing reduces confusing inconclusive results and shortens the diagnostic journey for patients with rare hereditary diseases.
This NPJ Genomic Medicine study demonstrates that adding targeted RNA sequencing as a reflex test to exome/genome sequencing reduces variant-of-uncertain-significance rates and improves patient outcomes through enhanced classification. The approach is immediately implementable in genomic medicine labs and directly reduces the diagnostic odyssey for patients with rare/hereditary conditions.
What the study was
- Study design
- Clinical validation study with patient outcome data
- Population
- Patients undergoing clinical exome/genome sequencing with variants of uncertain significance (VUS)
- Category
- Genomics/Precision Medicine
- Maturity
- Validated
- Journal
- NPJ genomic medicine
Why it surfaced
NPJ Genomic Medicine clinical study with patient outcome data demonstrating that RNA reflex testing resolves VUS and improves outcomes — a scalable, near-term implementable protocol that addresses a persistent challenge in clinical genomics. Outcome-linked validation is rare in genomics validation studies.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.