‘Next Generation Sequencing’ as a diagnostic tool in paediatrics

摘要

Two recent studies in Asia illustrate the potential of next generation sequencing (NGS) and the value of large-scale studies in Asian cohorts to represent variation in the reference genome. The UK itself has a diverse population and acknowledging the genetic variation that exists within differing ethnic groups is important to deliver a high-quality genomic service for all. The paper from Wei et al 1 demonstrates that an understanding of what each NGS test provides allowed for the use of a large exome gene panel rather than whole exome sequencing (WES). This still increased the diagnostic yield to almost 40% in Mendelian disorders. Bhatia et al 2 further showed that using whole exome and whole genome sequencing (WGS) led to a diagnostic yield of 38% and 33%, respectively, in their Asian cohort. Particularly in children with neuromuscular and skeletal dysplasia phenotypes, performing a ‘trio exome’ also contributed to a higher diagnostic yield. Bhatia et al additionally demonstrate that 61% of the variants found in their multiethnic Asian population were novel. This information is crucial to help collate accurate reference data sets, which tend to have a European bias, with Asian ancestry represented by 14% of samples.3