May 3, 2021

Exome sequencing as the first-tier test for pediatric respiratory diseases: a single-center study

Chanjuan Hao1,3, *, #, Ruolan Guo1,3, #, Jun Liu2, #, Xuyun Hu1,3, Jun Guo1,3, Yao Yao2, Zhipeng Zhao2, Zhan Qi1,3, Jun Yin2, Lanqin Chen2, Hao Wang2, Baoping Xu2, *, Wei Li1,3, *

Confirming a diagnosis of suspected pediatric respiratory disorders that are inherited is difficult due to the high clinical and genetic heterogeneity. The clinical presentation of a majority of monogenic respiratory diseases is frequently nonspecific and coincides with other usual respiratory conditions, including cough, asthma, pneumonia, etc. These atypical phenotypes present a challenge to early identification and disorder management. 

Hao, et al. (2021, PMID 33942430) performed exome sequencing (ES) on 107 cases with inherited disorders of the respiratory syndrome. Hospitalized patients, respiratory problems, and presumed genetic illnesses were the inclusion criteria. Geneyx Analysis was used to interpret the ES and facilitated the identification of 51 likely pathogenic or pathogenic variants in 37 patients. The variants were classified according to the ACMG/AMP guidelines. Altogether, 34.6% of patients received the diagnosis (37/107).. 

The authors demonstrated that the clinical heterogeneity and complicated etiology of respiratory diseases made ES a useful and recommended first-tier diagnostic tool. This study presents a useful diagnostic method for further personalized patient care and genetic counseling in pediatric respiratory treatment. Although an extensive and empirical clinical assessment is essential, the capability of ES-based genomic examination and analysis using Geneyx was critical in accelerating the correct diagnosis of genetic disorders, especially for those with heterogeneous and unusual clinical presentations. 

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