Journal article
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
Genetics in medicine, Vol.19(8), pp.867-874
2017
PMID: 28125081
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) to examine their distributions.
Results
Standard care achieved an average cost per diagnosis of AU$27,050 (US$21,099) compared with AU$5,047 (US$3,937) for singleton WES. If WES had been performed after exhaustive standard investigation, then there would have been an incremental cost per additional diagnosis of AU$8,112 (US$ 6,327). Using WES to replace some investigations decreases this incremental cost to AU$2,622 (US$2,045), whereas using it to replace most investigations results in a savings per additional diagnosis of AU$2,182 (US$1,702).
Conclusion
Use of WES early in the diagnostic pathway more than triples the diagnostic rate for one-third the cost per diagnosis, providing strong support for reimbursement as a clinical test.
Details
- Title
- Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
- Authors/Creators
- Zornitza Stark - Murdoch Children's Research InstituteDeborah Schofield - Murdoch Children's Research InstituteKhurshid Alam - Murdoch Children's Research InstituteWilliam Wilson - Melbourne Genomics Health AllianceNessie Mupfeki - Murdoch Children's Research InstituteIvan Macciocca - Murdoch Children's Research InstituteRupendra Shrestha - The University of SydneySusan M. White - Murdoch Childrens Research InstituteClara Gaff - The University of Melbourne
- Publication Details
- Genetics in medicine, Vol.19(8), pp.867-874
- Publisher
- Springer Nature
- Number of pages
- 8
- Grant note
- Bioplatforms Australia University of Melbourne Royal Melbourne Hospital Walter and Eliza Hall Institute State Government of Victoria (Department of Health and Human Services) Murdoch Childrens Research Institute CSIRO; Commonwealth Scientific & Industrial Research Organisation (CSIRO) Royal Children's Hospital Australian Genome Research Facility NCRIS program
- Identifiers
- 991005591577007891
- Copyright
- © 2017, The Author(s)
- Murdoch Affiliation
- Centre for Healthy Ageing
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.189 Genome Studies
- 1.189.597 Genetic Testing
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Clinical Medicine