Journal article
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
Z Stark, D Schofield, K Alam, W Wilson, N Mupfeki, I Macciocca, R Shrestha, SM White, C Gaff
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2017
DOI: 10.1038/gim.2016.221
Abstract
Purpose: To undertake the first prospective cost-effectiveness study of whole-exome sequencing (WES) as an early, routine clinical test for infants with suspected monogenic disorders. Methods: Cost data for diagnosis-related investigations and assessments were collected for a prospective, sequential clinical cohort of infants (N = 40) who underwent singleton WES in parallel to usual diagnostic care. We determined costs per patient, costs per diagnosis, and incremental costs per additional diagnosis for three alternative strategies for integrating WES into the diagnostic trajectory. We performed a sensitivity analysis to examine the robustness of estimates and bootstrapping (500 replications)..
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Funding Acknowledgements
We thank all collaborators in the Melbourne Genomics Health Alliance demonstration project and Leeanne Cavanough for administrative support in preparation of the manuscript. The study was funded by the founding organizations of the Melbourne Genomics Health Alliance (Royal Melbourne Hospital, Royal Children's Hospital, University of Melbourne, Walter and Eliza Hall Institute, Murdoch Childrens Research Institute, Australian Genome Research Facility, and CSIRO) and the State Government of Victoria (Department of Health and Human Services). The involvement of AGRF was supported by sponsorship from Bioplatforms Australia and the NCRIS program.