Genomic testing in pediatric urology: Implications for diagnosis and management

Genomic medicine is becoming increasingly relevant to pediatric urology. Developing an understanding of which children might benefit from genomic testing and how genomic results might impact clinical decision-making will become a necessary skill in the next few years. A genetic diagnosis can provide certainty, prompt screening of other organ systems, guide treatment and surveillance, enable testing of family members and inform reproductive counselling. In this review, we provide an overview of several monogenic conditions that might be encountered in the pediatric urology clinic and guidance on when to refer for genomic testing. We discuss monogenic congenital uropathies and how knowledge of the genetic basis of these conditions has improved understanding of disease pathophysiology. We summarise recommendations for genomic testing in pediatric stone formers, of whom around 20 % have a monogenic cause, and show how this can facilitate access to targeted therapies (e.g. primary hyperoxaluria type 1). Finally, we review how genotype-phenotype correlations can be used to guide risk stratification, surveillance protocols and screening of other organ systems in children at risk of Wilms tumour.