Day 1: Genomic Sequencing: Kym Boycott, CHEO
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CORD Rare Drug Conference: June 8-9, 2022 Diagnosis for All Genomic Sequencing: Kym Boycott, CHEO
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Day 1: Genomic Sequencing: Kym Boycott, CHEO
- 1. Diagnosis for All Genomic Sequencing Kym Boycott, MD, PhD, FRCPC, FCCMG Professor of Pediatrics, University of Ottawa CORD Conference; June 8, 2022
- 2. Clinical genome-wide sequencing GWS: diagnosis for 25-60% Informed care Family wellbeing 3-5 Specialists (>11 for 10%) 3-6 Years for a diagnosis 40% Received >3 misdiagnoses $15,000 ($8,000-$23,000) Cost per patient Best test we have ever had for rare genetic disease More than 200,000 rare disease patients now clinically sequenced world-wide
- 3. CCMG guidelines: Diagnostic translation Journal of Medical Genetics 2015
- 4. ~1,200 samples per year Need: National data solution Clinical GWS in Canada 5,174,724 4,444,277 1,791,906 1,372,904 8,585,523 520,286 42,596 44,991 39,536 800/yr 0/yr 50/yr 200/yr 100/yr 30/yr 14,789,778 2020 clinical GWS volumes Population of Canada: 38,131,104 30/yr 783,721 50/yr 160,536 982,326
- 5. Deliver on the promise of precision health for RD A SharedVision ON GAPP QC GAPP Prairie GAPP BC GAPP AB GAPP Clinical GWS Implementation Projects funded through Genome Canada’s Genomic Applications Partnership Program (GAPP) Atlantic GAPP
- 6. • 10 interlocking provincial health plans • A variety of health data custodians Canadian Context 5,174,724 4,444,277 1,791,906 1,372,904 8,585,523 520,286 Ontario Health 14 Home & CommunityCare 141Hospitals 18RHAs 5RHAs 5RHAs 1RHA 4 RHAs 14,789,778 Health Data Custodians by Province 1RHA 783,721 1RHA 160,536 982,326 1RHA 2RHAs Regional hospital
- 7. Engagement of GAPP Projects 7 British Columbia Anna Lehman Tanya Nelson Linlea Armstrong Alberta François Bernier Québec Jacques Michaud Ma’n Zawati (PolicyToolkit) Prairie Cheryl Rockman- Greenberg Petr Kestra Atlantic Karen Bedard David Skidmore Victor Martinez Darren O’Reilly Ontario Kym Boycott Christian Marshall 1700 families/year 10,000 families/year 5 years
- 8. Genome-wide Sequencing Ontario 2279 individuals sequenced (882 probands +1397 family members) 32% Diagnostic yield 97% reported in ≤ 12 weeks
- 9. All for One Collaborative Network Data sharing Quality Health economics and policy Promote research Sustainable funding Accessible to all Increase diagnosis Best test
- 10. All for One Data Sharing and Research Goal: Facilitate high-quality clinical GWS as standard-of-care Provide access to precision health research for Canadians with rare disease Two-pronged data solution: Canadian variant database for QA/QI of clinical GWS Opt-in re-contact registry for REB-approved research projects 2
- 11. Patient experience Clinical assessment Consent to re-contact Sequence Analyze Interpret Consent to clinical GWS Clinical information system Laboratory information system Diagnostic report Participant ID Sex, DOB Diagnosis HPO terms Variants Pathogenicity Supporting evidence Participant ID Contact information Referring provider linkable Linkage and query for eligible participants Invitation to participate Verified researcher with REB-approved protocol Data is deposited and centralized Data remains with institution and federated via APIs