Silent Genomes: Economics of Precision Diagnosis in Indigenous Children
Details
Genomic testing is used to diagnose genetic causes of childhood rare diseases. Genomic testing 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 our 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.
Our learning objectives are to:
- Discuss Indigenous-partnered research related to economics, innovation, and access;
- Overview preliminary outcomes of examining the potential role of genomic testing for diagnosing rare disease in children.
Dean Regier, PhD
Senior Scientist, BC Cancer Research Institute
Associate Director, Academy of Translational Medicine, University of British Columbia
Dr. Devin Harris is a health care leader, researcher and clinician who has held numerous health care leadership roles. He holds the position of Council Chair, Health Quality B.C. and is Executive Medical Director, Quality, Engagement and Research in Interior Health. Clinically, he has practiced Emergency Medicine since 2001 in multiple departments in British Columbia. Further, he is Clinical Professor, Department of Emergency Medicine, University of British Columbia, and is currently an investigator on multiple research trials. He is Academic Advisor for the Physician Leadership Program in the Sauder School of Business, University of British Columbia and teaches quality improvement and healthcare leadership in numerous other programs. He is a strong advocate of innovation and partnerships in healthcare with a focus on equitable and patient-centered care.