TY - JOUR
T1 - Genomic testing for suspected monogenic kidney disease in children and adults
T2 - A health economic evaluation
AU - Wu, You
AU - Jayasinghe, Kushani
AU - Stark, Zornitza
AU - Quinlan, Catherine
AU - Patel, Chirag
AU - McCarthy, Hugh
AU - Mallawaarachchi, Amali C.
AU - Kerr, Peter G.
AU - Alexander, Stephen
AU - Mallett, Andrew J.
AU - Goranitis, Ilias
AU - KidGen Collaborative investigators
N1 - Funding Information:
The study was funded by the AGHA (National Health and Medical Research Council APP1113531), Melbourne Genomics Health Alliance (Melbourne Genomics) and grants from the Royal Children’s Hospital Foundation, the Royal Brisbane and Women's Hospital Foundation, and the Royal Prince Alfred Hospital Kidney Centre. Melbourne Genomics was funded by 10 member organizations and the State Government of Victoria (Department of Health). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. The research conducted within each Australian State and Territory was supported by the relevant state or territory hospital and health services.
Funding Information:
AGHA is funded by a National Health and Medical Research Council (NHMRC) grant (Grant Reference Number: 1113531) and the Australian Government’s Medical Research Future Fund (MRFF). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. This work represents independent research and the views expressed are those of the authors and not necessarily those of the NHMRC or MRFF.
Funding Information:
AGHA is funded by a National Health and Medical Research Council (NHMRC) grant (Grant Reference Number: 1113531) and the Australian Government's Medical Research Future Fund (MRFF). The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. This work represents independent research and the views expressed are those of the authors and not necessarily those of the NHMRC or MRFF. The study was funded by the AGHA (National Health and Medical Research Council APP1113531), Melbourne Genomics Health Alliance (Melbourne Genomics) and grants from the Royal Children's Hospital Foundation, the Royal Brisbane and Women's Hospital Foundation, and the Royal Prince Alfred Hospital Kidney Centre. Melbourne Genomics was funded by 10 member organizations and the State Government of Victoria (Department of Health). The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The research conducted within each Australian State and Territory was supported by the relevant state or territory hospital and health services. Conceptualization: Y.W. I.G. A.J.M. C.Q. K.J. Z.S.; Data acquisition: K.J. Z.S. C.Q. C.P. A.J.M. The KidGen Collaborative Renal Genetics Clinic Network; Data curation: K.J. Z.S. C.Q. C.P. A.J.M.; Formal Analysis: Y.W. I.G.; Funding acquisition: Z.S. C.Q. A.J.M.; Methodology: all authors; Writing – original draft: Y.W. I.G. K.J. A.J.M.; Writing – review & editing: all authors. Ethical approval was granted from the Melbourne Health Human Research Ethics Committee (approval HREC/16/MH/251), which served as the central research ethics committee for this study as part of the overarching AGHA protocol. This included specific approval for this cohort study and this health economic analysis within that cohort study. Informed written consent was obtained from all participants including their parents or legal guardians as required. All clinical data collected were de-identified and the study adhered to the principles set out in the Declaration of Heslinki. Because the potential for organ transplant recipients to participate was enabled, the clinical study also complied with the Declaration of Istanbul.
Publisher Copyright:
© 2023 The Authors
PY - 2023/11
Y1 - 2023/11
N2 - 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$10,823 per QALY gained. Sub-group analyses identified that the results were largely driven by the cost-effectiveness in glomerular diseases. Conclusion: Based on established or expected thresholds of cost-effectiveness, our evidence suggests that genomic testing is very likely to be cost saving for individuals with suspected glomerular diseases, whereas no evidence of cost-effectiveness was found for non-glomerular diseases.
AB - Purpose: To assess the relative cost-effectiveness of genomic testing compared with standard non-genomic diagnostic investigations in patients with suspected monogenic kidney disease from an Australian health care system perspective. Methods: Diagnostic and clinical information was used from a national cohort of 349 participants. Simulation modelling captured diagnostic, health, and economic outcomes during a time horizon from clinical presentation until 3 months post-test results based on the outcome of cost per additional diagnosis and lifetime horizon based on cost per quality-adjusted life-year (QALY) gained. Results: Genomic testing was Australian dollars (AU$) 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.
KW - Cost-effectiveness
KW - Economic evaluation
KW - Exome sequencing
KW - Genetic kidney disease
KW - Genomic sequencing
UR - https://www.scopus.com/pages/publications/85168529206
U2 - 10.1016/j.gim.2023.100942
DO - 10.1016/j.gim.2023.100942
M3 - Article
C2 - 37489581
AN - SCOPUS:85168529206
SN - 1098-3600
VL - 25
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 11
M1 - 100942
ER -
SDG 3 Good Health and Well-being