September 16, 2021

Glomerular diseases affect the tiny filtering units in the kidney responsible for cleaning blood – the glomeruli. Faulty glomeruli can lead to kidney failure and is one of the most common causes of genetic kidney disease.

A first-of-its-kind health economic analysis recently published in Kidney International Reports demonstrates using genomic sequencing as a first line test for children with glomerular disease is highly cost-effective. Until recently, standard testing for glomerular disease involved non-specific tests like ultrasounds and blood and urine analysis, as well as invasive, risky tests like biopsies.

The study, which is part of a broader clinical project investigating the impact of genomic testing for patients with genetic kidney diseases, assessed the cost and outcomes of genomic sequencing for patients with glomerular disease compared to usual testing.

Usual care cost an average of $6,120 per child, with an estimated 4% of children diagnosed. Genomic testing costs $4,900 per child and with 38 new diagnoses out of 100 children tested. Overall, for each new diagnosis there was a cost saving of $3,230.

“Using genomic testing as a first-line test leads to more diagnoses and reduces the need for invasive procedures such as kidney biopsies,” said lead author Dr Kushani Jayasinghe of Monash Health. “Biopsies are particularly risky for children, who need general anaesthetic as part of the procedure.”

“Our findings support arguments for test reimbursement to be more widely available, especially when sequencing provides additional information that wouldn’t be available without a genomic diagnosis,” Dr Jayasinghe said.

Genetic kidney disease affects 10% of all adults and 40% of children with kidney disease. Early identification and proactive treatment slows progression of disease, delaying the need for dialysis and kidney transplantation. Patients have reported delaying these interventions makes a big difference to their quality of life.

This study was published in Kidney International Reports and is part of the Melbourne Genomics Genetic Kidney Disease Clinical Project. The project was a multidisciplinary collaboration between The Royal Children’s Hospital, Monash Health, The Royal Melbourne Hospital, Murdoch Children’s Research Institute and Austin Health.


More information:

Read the full paper.

Read the key findings from this project or access a full list of Melbourne Genomics publications.

The Melbourne Genomics Genetic Kidney Disease Clinical Project is part of a broader Australian network of nephrologists, KidGen, which has project coordinator funding from Australian Genomics.


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