Genomic Testing Likely Cost-Effective for Suspected Glomerular Kidney Diseases Among Australian Patients

In a study appearing in Genetics in Medicine, researchers from the University of Melbourne evaluate the cost-effectiveness of genomic testing compared with standard non-genomic diagnostic methods in Australian patients with suspected monogenic kidney diseases. While nephrologists recognize the clinical benefits of genomic testing, the authors say access to testing could be more equitable. The researchers used diagnostic and clinical information from an Australian cohort of 349 individuals and developed a model that captured diagnostic, health, and economic outcomes from clinical presentation until three months post-test results. Genomic testing was AU$1,600 more costly per patient and led to an additional 27 diagnoses out of 100 individuals tested, resulting in an incremental cost-effectiveness ratio of AU$5,991 per additional diagnosis, the researchers report. Additionally, genomic testing resulted in an further cost of AU$438 and 0.04 quality-adjusted life year gained per individual, compared with standard diagnostic investigations. The authors concluded that genomic testing is likely cost-saving for individuals with suspected glomerular diseases, however, the same wasn't observed for non-glomerular conditions.