Abstract

Worldwide, approximately 80% of rare diseases are thought to have an inherited component. Of these, around 75% of the individuals are children. Therefore, the application of genomic technologies in paediatric care is inevitable. Genomic testing approaches such as whole genome sequencing have the potential to diagnose, and therefore treat, children and young people living with rare conditions. The prospective power of genomic screening, enabling interventions before a child’s health deteriorates, is arguably even more profound. However, despite the obvious benefits of the use of genomics in paediatrics, there are considerable challenges and complexities associated with the successful integration and mainstreaming of genomic testing, including the impact on ways of working, developing an understanding and knowledge of genomics, and navigating the associated NHS (National Health Service) genomics infrastructure. Here, we set out current frameworks, practical education and training resources, and future strategies which could be adopted to support the paediatric workforce in embedding genomics into clinical practice to ultimately improve child health outcomes.