[False negatives in exome sequencing for hereditary bronchiectasis: a report of 5 cases and literature review].

Objective

To summarize the diagnostic approach for patients clinically suspected of having hereditary bronchiectasis after negative exome sequencing (ES) results.

Methods

We analyzed the causes of false-negative ES results and subsequent genetic diagnostic strategies in five patients with hereditary bronchiectasis admitted to the Department of Pulmonary and Critical Care Medicine at Peking Union Medical College Hospital. A literature review was conducted to refine the diagnostic workflow for patients with clinically suspected hereditary bronchiectasis following after negative ES findings.

Results

All five patients were highly suspected or clinically confirmed to have hereditary bronchiectasis, yet their initial ES results were negative. Through ES data re-analysis, genome sequencing (GS) or functional validation experiments, definitive genetic diagnoses were ultimately established.

Conclusion

For patients suspected of hereditary bronchiectasis, reanalysis of ES data alongside GS combined with functional validation experiments or RNA sequencing is the preferred strategy following negative ES results.