Dr. Regier’s GeneSolve study, recently funded by Genome British Columbia, examines the value of genomic sequencing for diagnosing childhood rare diseases. Through a cross-institutional collaboration with Oxford University, PACER is developing new ways to address the high levels of uncertainty introduced by multi-omics technologies. Using data from British Columbia’s CAUSES Clinic, TIDE-BC, and the Genomics England 100,000 Genomes Project, this study is estimating the preference-driven net benefit of genomic sequencing compared to standard diagnostic pathways for rare diseases. This multi-country approach to economic analyses will support the timely and appropriate adoption of genomics for better diagnosing and treating children with rare diseases across jurisdictions.
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