CHP PhD Confirmation Seminar - Francisco Santos

The health economics of functional genomics for undiagnosed rare diseases in Australia

Presenter: Francisco Santos

Date and time: Friday 10 February 2023, 11am
Seminar Room 405a, Level 4 207 Bouverie Street, Carlton, VIC 3053 
Via Zoom: Meeting ID: 81379201164 / Password: 632413

Nearly 80% of rare diseases have a genetic origin. Yet almost half of Australian patients are not diagnosed despite advances in genome sequencing. There is potential for functional genomics, such as transcriptomics and proteomics, to overcome the diagnostic challenges of genome sequencing. However, the implementation of functional genomics diagnostics in the Australian healthcare has not yet been backed by health economic evidence. This PhD aims to address this research gap in four sequential phases, starting with micro-costing both functional genomic platforms to estimate delivery costs, followed by evaluating the economic implications of clinical utility based on clinician surveys. Functional genomics effectiveness will then be evaluated by obtaining diagnostic outcomes as well as personal utility and health-related quality of life changes. These findings will be incorporated into an economic evaluation model to assess the cost-effectiveness and cost-benefit of functional genomic tests in patients with rare diseases.

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