Genomic medicine for kidney disease

Inherited aetiologies are responsible for ∼10% of adult end-stage renal disease and >70% of paediatric hephropathy; sequencing studies of large cohorts will shed further light on genetic contributions across different forms of kidney diseaseIn addition to ending the 'diagnostic odyssey', a genetic diagnosis can provide a deeper understanding of disease pathogenesis, inform prognosis, and guide clinical managementGenetic testing is currently recommended for patients with early-onset nephropathy and/or other clinical features consistent with an inherited form of disease as well as for evaluation of living kidney donorsDevelopment of disease-specific guidelines and use of population genetic data will help to facilitate accurate clinical sequence interpretation; nevertheless, patient-level assessment results in the continued need for expert judgementThe broadening clinical use of genetic testing in nephrology has raised questions regarding the return of results, physician education, testing across different patient subpopulations and many other practical and ethical issuesInterdisciplinary research and dialogue will help to address unresolved challenges and inform the creation of best practice guidelines for genomic medicine in nephrology