Join C2E2 for a spotlight session on genomic testing with Dr. Dean Regier.
Genomic testing is used to diagnose genetic causes of childhood rare diseases, but its benefits are not equitably distributed to Indigenous peoples because they are underrepresented in the variant libraries needed for results interpretation. Research-based whole-genome sequencing can provide additional diagnoses to Indigenous families. Translating whole-genome sequencing benefits into real-world clinical settings should aim for safe, valued and accessible implementation, led by Indigenous voices. This talk will provide a brief overview of Dr. Regier's Indigenous-partnered Silent Genomes project that looked at how to evolve economic approaches to understand the role of genomic testing to diagnose rare conditions in Indigenous children.