Journal article
Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases
K Jayasinghe, Y Wu, Z Stark, PG Kerr, AJ Mallett, C Gaff, M Martyn, I Goranitis, C Quinlan
Kidney International Reports | Published : 2021
Abstract
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 m..
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Awarded by Sanofi Genzyme
Funding Acknowledgements
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, MMhave 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.