TY - JOUR
T1 - Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases
AU - Jayasinghe, Kushani
AU - Wu, You
AU - Stark, Zornitza
AU - Kerr, Peter G.
AU - Mallett, Andrew J.
AU - Gaff, Clara
AU - Martyn, Melissa
AU - Goranitis, Ilias
AU - Quinlan, Catherine
N1 - Funding Information:
Initial design of the health economic model and the patient testing was funded by Melbourne Genomics Health Alliance (funded by the State Government of Victoria and the 10 Alliance members); further development of the health economic model was funded by Australian Genomics Health Alliance (funded by a National Health and Medical Research Council Grant 1113531 and the Medical Research Future Fund). KJ was supported by the Royal Australian College of Physicians Jacquot Research Entry Scholarship and an Australian Government Research Training Program Scholarship. KJ, YW, CQ, CG, ZS, PK, MM have no conflicts of interests to disclose. AJM has received grants from Sanofi Genzyme, is on the Advisory Board for Ostuka, and is the local principal investigator for an industry sponsored trial by Reata, Sanofi and Dicerna, all of which are outside the submitted work.
Funding Information:
Initial design of the health economic model and the patient testing was funded by Melbourne Genomics Health Alliance (funded by the State Government of Victoria and the 10 Alliance members); further development of the health economic model was funded by Australian Genomics Health Alliance (funded by a National Health and Medical Research Council Grant 1113531 and the Medical Research Future Fund). KJ was supported by the Royal Australian College of Physicians Jacquot Research Entry Scholarship and an Australian Government Research Training Program Scholarship. KJ, YW, CQ, CG, ZS, PK, MM have no conflicts of interests to disclose. AJM has received grants from Sanofi Genzyme, is on the Advisory Board for Ostuka, and is the local principal investigator for an industry sponsored trial by Reata, Sanofi and Dicerna, all of which are outside the submitted work.
Publisher Copyright:
© 2021
PY - 2021/11/1
Y1 - 2021/11/1
N2 - 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.
AB - 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.
KW - cost-effectiveness
KW - exome sequencing
KW - genetic kidney disease
KW - health economic analysis
UR - http://www.scopus.com/inward/record.url?scp=85118585740&partnerID=8YFLogxK
U2 - 10.1016/j.ekir.2021.08.028
DO - 10.1016/j.ekir.2021.08.028
M3 - Article
C2 - 34805637
AN - SCOPUS:85118585740
SN - 2468-0249
VL - 6
SP - 2850
EP - 2861
JO - Kidney International Reports
JF - Kidney International Reports
IS - 11
ER -