Transforming paediatric practice by leveraging on genomic medicine

Abstract

Genomic medicine entails the use of an individual’s genomic information in his or her clinical care to aid diagnosis and personalise management. As genetic conditions significantly contribute to neonatal and paediatric morbidity and mortality, paediatricians can incorporate genomic medicine in their clinical practice. Through this review, we aim to describe the basic concepts of genomic medicine, discuss the types of genetic and genomic testing available, present examples of how genomics is already being used in paediatrics and summarise the challenges of genomic medicine. The purpose of this review is to help paediatricians decide the suitable genetic or genomic test, understand the possible outcomes of testing and appreciate the requirements of appropriate counselling of patients.