A multidisciplinary team of researchers from the Garvan Institute of Medical Research, the Kinghorn Centre for Clinical Genomics, and St Vincent’s Hospital in Sydney, have found that Whole Genome Sequencing — where all of the genes of an individual are sequenced— yields a more accurate, and more cost-effective approach to diagnosing inherited kidney disease.
Dr Mallawaarachchi, a genomics researcher from the Garvan and co-lead of the study, shared the outcomes of the research at the KidGen Renal Genetics Symposium, held at the Royal Children’s Hospital in November 2016. The research focused on Autosomal Dominant Polycystic Kidney Disease (ADPKD), an inherited disorder in which cysts progressively expand and destroy the kidneys, eventually causing renal failure.
Through the application of Whole Genome Sequencing, the researchers were able to accurately diagnose ADPKD in 86% of study participants, compared with an accurate diagnosis in about 60% of cases when applying single-gene testing. The outcomes of the study hold promise for a new diagnostic test and improved clinical management for those with ADKPD.