The Application of Whole-Exome Sequencing in Diagnosing Pediatric Rare Disease in Hong Kong

Abstract

Whole-exome sequencing (WES) combines next generation sequencing (NGS) technology with capture methods to sequence all the coding regions of the genome. The application of WES has gained a lot of success worldwide in discovering new disease causing genes and in diagnosis. We reviewed some of the large collaborative efforts worldwide and summarized notable examples, observing an overall diagnostic yield of 16-30%. Locally in Hong Kong, there have been several applications of WES in research, as well as bioinformatics tools developed, and the field is continuing to grow. In our own department, we have applied this to pediatric rare diseases, by establishing our in-house research pipeline for WES, as well as utilizing core laboratory facilities in model animals and cell work for functional validation. We illustrate this approach using cases as examples. On the other hand, clinically, we are utilizing WES more as a diagnostic tool by analyzing selected pediatric cases via overseas laboratories. We see how this new tool is helping patients and families to obtain an answer for their condition, and subsequently helping them with their management and family planning. Finally, we discuss the challenges for WES in Hong Kong, and the future direction of the technology, with the potential to revolutionize clinical diagnosis and medical research. Key Words: gene, science, human resource, education, DNA INTRODUCTION Whole-exome sequencing (WES) combines next generation sequencing (NGS) technology with capture methods to sequence all the coding regions of the genome. The application of WES has gained a lot of success worldwide in discovering new disease causing genes and in diagnosis. We reviewed some of the large collaborative efforts worldwide and summarized notable examples, observing an overall diagnostic yield of 16-30%. Locally in Hong Kong, there have been several applications of WES in research, as well as bioinformatics tools developed, and the field is continuing to grow. In our own department, we have applied this to pediatric rare diseases, by establishing our in-house research pipeline for WES, as well as utilizing core laboratory facilities in model animals and cell work for functional validation. We illustrate this approach using cases as examples. On the other hand, clinically, we are utilizing WES more as a diagnostic tool by analyzing selected pediatric cases via overseas laboratories. We see how this new tool is helping patients and families to obtain an answer for their condition, and subsequently helping them with their management and family planning. Finally, we discuss the challenges for WES in Hong Kong, and the future direction of the technology, with the potential to revolutionize clinical diagnosis and medical research. Figure 1. We are good. Table 1. The data. dsffd dfgdg dfgdf gdfg dfgdfg dfgdf dfg gd fgdf dfgdf dfg gdfggfd gdfg dfg dfgd gdgdfg dfgfd dfg gdf Note: the test is published in a right format.