AB012. Applying whole exome sequencing (WES) to solve undiagnosed diseases in children in Hong Kong

Abstract: Whole exome sequencing (WES) combines next generation sequencing technology with capture methods to sequence only the protein-coding part of the human genome. Its application has been successful in the discoveries of new disease-causing genes in both Mendelian and complex disorders. In the context of clinical diagnosis, the WES approach has an overall diagnostic yield of 15-30% for patients with undiagnosed diseases. In Hong Kong, we have applied WES to paediatric rare diseases, by establishing our in-house research pipeline and by utilizing accredited laboratories overseas. Case examples will be used in the presentation to illustrate these two approaches. Finally, we discuss the challenges of using WES in Hong Kong, and the future direction of applying NGS technology to revolutionize the clinical diagnosis and medical researches.

Keywords: Whole exome sequencing (WES); undiagnosed diseases; clinical diagnosis; sequencing technology