Our kidney disease research
At the Garvan Institute, we aim to increase the accuracy and reliability of genetic testing for ADPKD while decreasing the costs and time involved. Currently genetic testing is an expensive, time consuming ordeal that delivers results with only ~60% accuracy. Because of this, ultrasound imaging is still the diagnostic test of choice even though it may only pick up PKD when it has advanced past the early stage. Earlier and more accurate diagnosis would be incredibly beneficial in managing and slowing down the progression of ADPKD.
Our researchers recognise the need for a genetic test that is accurate, cost-effective, and easily accessible in consideration of the commonality of PKD. Ever since then, the Molecular Genetics of Inherited Kidney Disorders Lab has been working tirelessly to produce such a test and explore other potential benefits, such as using this test to further understand the genes involved.
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Key areas of investigation
Whole genome sequence genetic test for ADPKD
The Molecular Genetics of Inherited Kidney Disorders Lab at the Garvan Institute has been researching the use of whole genome sequencing to diagnose ADPKD, showing it to be more accurate and much more cost-effective. During their research, they were able to accurately diagnose 86% of participants with ADPKD compared to only 60% in current genetic testing techniques. This new form of genetic testing, paired with lower costs, would allow for earlier diagnoses and therefore quicker intervention to slow down progression before symptoms appear with the aim of avoiding ESKD altogether.
Using genetic testing to diagnose ADPKD would allow for earlier diagnosis and therefore earlier intervention in managing lifestyle changes to slow the progression of the disease. Currently genetic testing is difficult and expensive due to the presence of “pseudogenes”. These are genes that have very similar “spelling” to PKD1 and PKD2, leading to inaccuracies in current genetic testing methods.