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PulmZoom: Yield for Targeted Gene Panels in Genetically-Mediated Respiratory Disorders.
Sara C Sadreameli1, Molly B Sheridan2, Sumathi I Rachamadugu2
1Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Pediatric Pulmonology
|July 22, 2025
Summary
Targeted gene panels effectively diagnose respiratory genetic disorders, with mucociliary subpanels showing the highest diagnostic yield. Careful patient selection enhances the effectiveness of these genetic tests.
Area of Science:
- Genetics
- Pulmonology
- Medical Diagnostics
Background:
- Targeted gene panels offer a cost-effective alternative to exome/genome sequencing for diagnosing genetic disorders.
- Limited data exists on the diagnostic yield of targeted gene panels for respiratory conditions.
Purpose of the Study:
- To evaluate the diagnostic yield of targeted gene panels for genetically-mediated respiratory disorders.
- To identify which respiratory subpanels provide the highest diagnostic yield.
Main Methods:
- A retrospective review of 416 patients who underwent targeted gene panel testing (PulmZoom) for respiratory disorders over five years.
- Utilized next-generation sequencing (NGS) and Sanger sequencing for variant confirmation.
Main Results:
- Overall, 4.1% of tests confirmed a genetic diagnosis, and 1.9% suggested a potential diagnosis.
- Mucociliary disorder subpanels demonstrated the highest diagnostic yield, identifying cystic fibrosis and primary ciliary dyskinesia as common conditions.
- 21.6% of results were uncertain, and 72.4% were negative.
Conclusions:
- Targeted gene panels are valuable tools for diagnosing genetically-mediated respiratory disorders.
- Optimizing patient selection through pulmonology and genetics subspecialty evaluations can increase panel yield.
- Further research is needed to compare sequential testing strategies and conduct cost-benefit analyses.
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