CHP Completion Seminar - Francisco Santos-Gonzalez
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Title: The economic value of functional genomics diagnostics for undiagnosed individuals with rare diseases
Supervisors: Associate Professor Ilias Goranitis, (Primary Supervisor), Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health; Professor John Christodoulou (Co-supervisor), Murdoch Children’s Research Institute; Associate Professor Meghan A. Bohren (Advisory Chair), Gender and Women’s Health Unit, Nossal Institute for Global Health
Bio: Francisco's research focuses on developing health economics evidence to guide the clinical implementation of functional genomics testing for undiagnosed rare diseases in Australia. With a background in biotechnology and experience in the pharmaceutical industry, Francisco collaborates with clinicians, families, and researchers to navigate the use of genomics in healthcare. His research investigates the real costs and value of genomic testing, aiming to develop estimation methods that better inform decision-making and clinical implementation.
Abstract: This study provides health economics evidence supporting functional genomics (FG) testing for individuals with undiagnosed rare diseases. Microcosting estimates for delivering FG were produced, and the monetary value of its benefits to individuals and families were estimated. Furthermore, the incremental cost-effectiveness and net monetary benefit of FG relative to reanalysis of sequencing data was evaluated. These findings offer a valuable reference for microcosting analyses of genomic technologies and build a compelling case for adopting FG in the Australian healthcare system.
Location: Room 410, Level 4, 207 Bouverie Street, Carlton