Oral Free Paper Session: Oral Presentation 5published_or_final_versio

Chu, YWY

Chung, BHY

Leung, GKC

Mak, CCY

Wong, WL

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TitleClinical application of whole exome sequencing for paediatricundiagnosed diseases in Hong Kong: experience from first sixtycasesAuthor(s) Mak, CCY; Chu, YWY; Wong, WL; Leung, GKC; Chung, BHYCitationThe 3rd Annual Scientific Meeting of the Hong Kong College ofPaediatricians (HKCPaed), Hong Kong, China, 5-6 December2015, p. 24Issued Date 2015URL http://hdl.handle.net/10722/222492Rights This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.24ORAL PRESENTATION 5:Clinical application of whole exome sequencing for paediatric undiagnosed dieasesin Hong Kong − experience from first sixty casesMak CCY, Chu YWY, Wong WL, Leung GKC, Chung BHYDepartment of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The Universityof Hong Kong, Hong KongBackground and aimsBy using next generation technology to sequence all the coding regions of the genome,whole-exome sequencing (WES) is now a more affordable and an increasingly importanttool in diagnosing unsolved diseases. Worldwide, there has been growing collaborativeefforts to solve rare and undiagnosed diseases using WES technology, with a diagnosticyield of up to 30%. We introduced the use of whole exome sequencing to paediatricpatients with rare diseases in Hong Kong, and share our findings of the first 60 cases.MethodsSixty children with undiagnosed diseases referred to the genetics service in Queen MaryHospital were recruited. These patients had all been assessed by a geneticist and geneticcounsellor with conventional cytogenetic and molecular testing performed whereappropriate. For those where a genetic diagnosis could not be obtained, the patientswere offered singleton whole-exome sequencing. The results were validated and therelevant literature reviewed to determine the pathogenic nature of the mutation.ResultsA diagnostic rate of pathogenic causal variants was found in over 25% of patients,comparable to internationally reported figures. In addition to mutations in known rarediseases, we also discovered extended phenotypes of known syndromes and mutationscontributing to newly described syndromes.ConclusionWe share our experience in establishing WES as a useful tool for obtaining difficultdiagnoses, as well as a valuable research tool to discover new genetic causes of rarediseases. The overall aim is not only to help more families to raise awareness and reacha diagnosis in the local population, but also to establish a pipeline to deal with thechallenges of future application of next generation sequencing in the diagnosis of rarepaediatric diseases.AcknowledgementsSK Yee Medical Research FoundationThe Society for the Relief of Disabled ChildrenAppendix I(Oral Free Paper Session)

Clinical application of whole exome sequencing for paediatric undiagnosed diseases in Hong Kong: experience from first sixty cases

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