Clinical Utility and Feasibility of Genomic Sequencing in Kidney Disease

Chronic Kidney Disease has a significant impact on morbidity and mortality in the Australian population. Genetic kidney disease accounts for up to 70% of children and 20% of adults with end stage kidney disease. The emergence of genomic technologies has led to better delineation of these conditions, the identification of new renal disease genes and subsequent targets for therapy. Currently, there is paucity of published evidence on the outcomes of genomic testing in nephrology to guide clinical practice. This thesis will explore the diagnostic and clinical utility, cost effectiveness and implementation aspects of genomic testing in nephrology.