Cost-effectiveness of targeted exome analysis as a diagnostic test in glomerular diseases

Jayasinghe, Kushani, Wu, You, Stark, Zornitza, Kerr, Peter G., Mallett, Andrew J., Gaff, Clara, Martyn, Melissa, Goranitis, Ilias, and Quinlan, Catherine (2021) Cost-effectiveness of targeted exome analysis as a diagnostic test in glomerular diseases. Kidney International Reports, 6 (11). pp. 2850-2861.

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Background: Despite the emergence of diagnostic and clinical utility evidence in nephrology, publicly funded access to genomic testing is restricted in most health care systems. To establish genomic sequencing as a clinical test, an evaluation of cost-effectiveness is urgently required.

Methods: An economic evaluation, informed by a primary clinical study and available clinical evidence and guidelines in nephrology, was performed to evaluate the cost-effectiveness and optimal timing of exome sequencing (ES) in adults and children with suspected monogenic glomerular diseases compared with nongenomic investigations (NGIs). Six diagnostic strategies reflecting current practice and recommended models of care in Australia were modeled: (i) NGIs, (ii) late gene panel followed by ES, (iii) late ES, (iv) early gene panel, (v) early gene panel followed by ES, and (vi) early ES.

Results: ES with targeted analysis achieved a diagnosis in 23 of 63 (36.5%) adults and 10 of 24 (41.6%) children. NGIs were estimated to diagnose 4.0% of children, with an average estimated cost of AU$6120 per child. Integrating ES as a first-line test in children was cost saving, with an incremental cost saving of AU$3230 per additional diagnosis compared with NGIs. In adults, NGIs was estimated to diagnose 8% of patients, with an average estimated cost of AU$1830 per person. In adults, integrating ES early resulted in an incremental cost per additional diagnosis of AU$5460 relative to NGIs. Conclusions: Early ES with targeted analysis was effective for diagnosing monogenic kidney disease, with substantial cost savings in children.

Item ID: 72089
Item Type: Article (Research - C1)
ISSN: 2468-0249
Keywords: cost-effectiveness, exome sequencing, genetic kidney disease, health economic analysis
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Copyright Information: Crown Copyright © 2021, Published by Elsevier Inc. on behalf of the International Society of Nephrology. This is an open access article under the CC BY-NC-ND license (
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Date Deposited: 09 Feb 2022 08:04
FoR Codes: 31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 30%
38 ECONOMICS > 3801 Applied economics > 380108 Health economics @ 40%
32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 30%
SEO Codes: 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100%
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