On 22 April 2021, Dr Dean Regier, Senior Scientist, Cancer Control Research, BC Cancer / Assistant Professor, School of Population and Public Health, University of British Columbia, delivered a presentation as part of the HERU External Seminar Series. The presentation took place over MS Teams. Dr Regier has kindly gave us permission to make a recording of the presentation available.
Title: Resource allocation for genomics and rare disease diagnosis: where we were and next steps for evaluation.
Abstract: Genomic testing presents an opportunity to rapidly diagnose rare diseases, the majority of which are believed to be genetic in origin. Both the rare disease setting and the context of genomic technologies pose specific challenges to conventional health economic evaluation. This seminar will first highlight the methodological challenges faced when eliciting preferences for health and non-health outcomes of genomics-guided medicine. Second, to begin to address the highlighted multi-factorial challenges, I will present an ongoing cross-jurisdictional sequential mixed-methods study drawing on discrete choice methods to evaluate using genomics to diagnose childhood rare disease. The preference challenges will be contextualized to established health technology assessment economic evaluation guidelines.