Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study

다국어 초록 (Multilingual Abstract)

The high clinical and genetic heterogeneity makes it difficult to reach a confirmative diagnosis of suspected pediatric respiratory inherited diseases. Many patients with monogenic respiratory disorders could be missed without genetic testing. We performed a single‐center study in Beijing Children's Hospital to demonstrate the clinical utility of exome sequencing (ES) as a first‐tier test by evaluating the diagnostic yields of ES for inherited diseases with respiratory symptoms. A total of 107 patients were recruited in this study. We identified 51 pathogenic or likely pathogenic variants in 37 patients by ES (with or without copy number variants sequencing). The overall diagnostic yield was 34.6% (37/107). The most frequent disorders in our cohort were primary immunodeficiency disease (PIDs) (18/37, 48.6%) and primary ciliary dyskinesia (PCD) (9/37, 24.3%). We further reviewed the directive outcomes of genetic testing on the 37 positive cases. Our study demonstrated the effectiveness of ES as a first‐tier test in China for diagnosing monogenic diseases of the respiratory system. In the era of precision medicine, ES as a first‐tier test can rapidly make a molecular diagnosis and direct the intervention of the positive cases in pediatric respiratory medicine.
Among 107 patients with respiratory symptoms, we identified 51 pathogenic or likely pathogenic variants in 37 patients by exome sequencing (ES; with or without copy number variants sequencing). Our study demonstrated the effectiveness of ES as a first‐tier test in China for diagnosing monogenic diseases of the respiratory system.