Genomics in the renal clinic - Translating nephrogenetics for clinical practice

Abstract

Genetic Renal Disease (GRD) presents to mainstream clinicians as a mixture of kidney-specific as well as multi-organ entities, many with highly variable phenotype-genotype relationships. The rapid increase in knowledge and reduced cost of sequencing translate to new and additional approaches to clinical care. Specifically, genomic technologies to test for known genes, the development of pathways to research potential new genes and the collection of registry data on patients with mutations allow better prediction of outcomes. The aim of such approaches is to maximise personal and health-system utility from genomics for those affected by nephrogenetic disorders.