AHES 2024 Conference Presentation - Francisco Santos Gonzalez

During the Economic evaluation & cost-effectiveness session at AHES 2024, Francisco presented an evaluation of the economic value of functional genomics (FG) in improving the diagnosis of rare diseases. Despite advances in sequencing, many patients remain undiagnosed, but FG methods like proteomics offer promise. The study, conducted through Australia's Undiagnosed Disease Network, examines the costs and benefits of these approaches. Initial results suggest the average cost of a proteomics test would be similar to functional assays for primary mitochondrial disease, and proteomics diagnostics have potential applications in non-MD monogenic disorders. The evaluation also incorporates patient outcome data, willingness-to-pay estimates, and decision models to assess the cost-effectiveness and overall value of FG diagnostics in rare disease diagnosis.