Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation

Wu, You, Jayasinghe, Kushani, Stark, Zornitza, Quinlan, Catherine, Patel, Chirag, McCarthy, Hugh, Mallawaarachchi, Amali C., Kerr, Peter G., Alexander, Stephen, Mallett, Andrew J., Goranitis, Ilias, and The KidGen Collaborative investigators, (2023) Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation. Genetics in Medicine, 25 (11). 100942.

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Purpose: To assess the relative cost-effectiveness of genomic testing compared with standard non-genomic diagnostic investigations in patients with suspected monogenic kidney disease from an Australian health care system perspective.

Methods: Diagnostic and clinical information was used from a national cohort of 349 participants. Simulation modelling captured diagnostic, health, and economic outcomes during a time horizon from clinical presentation until 3 months post-test results based on the outcome of cost per additional diagnosis and lifetime horizon based on cost per quality-adjusted life-year (QALY) gained.

Results: Genomic testing was Australian dollars (AU$) 1600 more costly per patient and led to an additional 27 diagnoses out of a 100 individuals tested, resulting in an incremental cost-effectiveness ratio of AU$5991 per additional diagnosis. Using a lifetime horizon, genomic testing resulted in an additional cost of AU$438 and 0.04 QALYs gained per individual compared with standard diagnostic investigations, corresponding to an incremental cost-effectiveness ratio of AU$10,823 per QALY gained. Sub-group analyses identified that the results were largely driven by the cost-effectiveness in glomerular diseases.

Conclusion: Based on established or expected thresholds of cost-effectiveness, our evidence suggests that genomic testing is very likely to be cost saving for individuals with suspected glomerular diseases, whereas no evidence of cost-effectiveness was found for non-glomerular diseases.

Item ID: 80304
Item Type: Article (Research - C1)
ISSN: 1530-0366
Keywords: Cost-effectiveness, Economic evaluation, Exome sequencing, Genetic kidney disease, Genomic sequencing
Copyright Information: © 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY-NC-ND license (
Additional Information:

Published on behalf of The KidGen Collaborative investigators

Funders: National Health and Medical Research Council (NHMRC)
Projects and Grants: NHMRC 1113531
Date Deposited: 14 Feb 2024 23:14
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3206 Medical biotechnology > 320699 Medical biotechnology not elsewhere classified @ 80%
32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 20%
SEO Codes: 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100%
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