RDD 2020 Day 1 AM - : Cheryl Rockman-Greenberg
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5 years of “Rare” Progress Research: Cheryl Rockman-Greenberg, Max Rady College of Medicine, University of Manitoba Rare Disease Day Conference 2020 March 9-10
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RDD 2020 Day 1 AM - : Cheryl Rockman-Greenberg
- 1. CORD Rare Disease Day Conference March 9-10, 2020 Ottawa Bringing Canada’s RD Strategy to Life: Building on Success-5 years of “Rare” Progress “Research”- Dr. Cheryl Rockman-Greenberg
- 2. Land Acknowledgement • We acknowledge that we are gathering on original lands of Anishinaabeg, Cree, Oji-Cree, Dakota, and Dene peoples, and on the homeland of the Métis Nation. • We respect the Treaties that were made on these territories, we acknowledge the harms and mistakes of the past, and we dedicate ourselves to move forward in partnership with Indigenous communities in a spirit of reconciliation and collaboration.
- 3. Disclosure Scientific Advisory Board of Alexion Pharma, Hypophosphatasia International Registry and patient advocacy groups Principal Investigator of Industry- sponsored clinical trials Receive honoraria for invited Webinars and Symposia (Alexion Pharma)
- 4. Inborn Errors of Metabolism (IEM) • Genetically determined disorders caused by abnormalities in the quantity or structure of a specific enzyme or protein • ~ 7,000 Mendelian disorders described in OMIM • ~ 3,400 causal genes identified • >550 Inborn Errors of Metabolism (IEM) • Term coined by Sir Archibald Garrod in 1908 • Blocking a metabolic pathway leads to: – absence of end product – accumulation of substrate • Individually rare, collectively common and constitute significant burden of disease
- 5. Challenges • IEM individually are considered rare but collectively pose significant impacts on health services. • The complexity of IEM necessitates multidisciplinary, long-term, lifelong care for better clinical outcome and optimal utilization of health services. • There is an expanding patient cohort & rapidly evolving options – need for additional resources. • The rarity of inborn errors of metabolism poses a challenge for families to be able to interact with other families with the same diagnosis
- 6. Manitoba • Population: 1.24 million (Stats Can, 2016) • Ethnically diverse • Indigenous population ~18% (Canada: 5.6%)
- 8. Clinical:Outcome Clinical:Trial Clinical:Biologic Basic:AnimalModel Basic:Cellular Basic:Molecular HealthSystemDesignHealthEconomics Discovery to Practice HealthPolicy KnowledgeSynthesis Valley 1 Valley 2 Basic Biomedical Research Clinical Science & Knowledge Health Decision Making & Clinical Practice KnowledgeTranslation Figure adapted from Steven Reis a nd Harold Pincus Vision of Joe Doupe The Clinician-Scientist Pursing Life-long Discovery & Translation
- 9. Multi-Gene Panel Neuromuscular Disorders (NMD) Panel Tests 49 genes Taken from: Ankala et al. (2015) Ann Neurol 77:206 Whole Exome Whole Genome 300,000 letter differences between healthy individuals 60 Million letters 1 DNA difference responsible for disease Next-Generation Sequencing (NGS) 3 Million DNA letter differences between healthy individuals 6,000 Million letters 1 DNA difference responsible for disease Single Gene Duchenne Muscular Dystrophy Cystic Fibrosis Huntington Disease Select Cancers
- 10. • We are all transitioning to an “OMICS” approach to the diagnosis and monitoring of hereditary metabolic disorders • What is the evidence an “OMICS” approach will provide a framework to ensure that there is improved equitable access to and equitable delivery of care, enhancing the patient’s experience, and increasing staff satisfaction? • National funding • CIHR & TriCouncil; Genome Canada; National Support groups Goal: Move Research into Improved Diagnosis & Care for Individuals with Rare Single Gene Disorders
- 11. A brief history of Canadian collaboration- Dr. Kym Boycott, CHEO
- 12. 3-5 Specialists (>11 for 10%) 3-6 Years for a diagnosis 40% Received >3 misdiagnoses ~30% Remain undiagnosed Diagnostic Odyssey Canadian Organization for Rare Disorders, Patient Survey, 2015 Shashi et al. (2014) Genet Med 16(2) 176
- 13. Sanger sequence 1 gene at a time, $1000 per gene Conventional Genetic Testing
- 14. BC Children’s and Women’s Victoria General Hospital Alberta Hospital Alberta Children’s Hospital Saskatoon Royal University Hospital Winnipeg Health Sciences Centre London Health Sciences Centre Children’s Hospital of Eastern Ontario Hospital for Sick Children Kingston General Hospital Mount Sinai Hospital Montreal Children’s Hospital Sudbury Health Sciences North Credit Valley Hospital Hopital Sainte-Justine Centre Hospitalier de L’Université Laval Memorial Hospital IWK Health Centre Beaulieu et al. (2014) Am J Hum Genet 94(6):809-817
- 16. > 2000 unknown genes 5000 known genes Depth of Rare Disease
- 17. 1 diagnosis per week, 1 gene discovery every 3 weeks 139 publications >600 contributing authors Novel gene discoveries 1000 Rare Diseases Known 31% Novel 13% Candidates Unsolved 57%
- 18. ~5000 patients reported Diagnostic yield very similar – 25–31% 3000+; 28% overall 800+; 26% overall 2000; 25% overall
- 19. Canadian College of Medical Geneticists Diagnostic translation J Med Genet 2015; 52: 431
- 20. The Next Frontier Coding Splicing Regulatory Mosaicism Rearrangements Coding Other ONLY 2% of Canadians have access
- 21. 60-70% RD patients remain unsolved after exome sequencing
- 22. The Next Frontier Coding Splicing Regulatory Mosaicism Rearrangements Coding Other Whole genome sequencing Transcriptome sequencing Deep sequencing Metabolomics Lipidomics Whole exome sequencing Whole exome sequencing
- 24. Canadian RD datasets Genomics4RD Harmonize Canadian data RESEARCH CLINICAL PATIENT and friends
- 25. A brief history of Canadian collaboration- Dr. Kym Boycott, CHEO
- 26. Laura Arbour, MSc MSc MD, FRCPC FCCMG, University of British Columbia On behalf of the Silent Genomes team Silent Genomes: Building the path to equitable genetics care for Indigenous children
- 27. Challenges in access to genetic health care for Indigenous patients (FN, Inuit, Metis) • Remoteness of communities • Limited qualified health care providers to recognize genetic disease are present in remote communities • Barriers to access even when communities are close to tertiary centre • Indigenous people may hesitate to become involved in genetic/genomic research and health care
- 28. ACTIVITY 2-PRECISION DIAGNOSIS NCN SITES Silent Genomes (SG) Activity 2: Precision Diagnosis NEWSLETTER October 2018 Thank you! Sincerely, The SG Activity 2 Precision Diagnosis Team RESEARCH ETHICS • Ethics has been approved in British Columbia; however, amendments have now been submitted including important changes to the consent forms • Once the final version is approved, you will receive all the new materials to submit your own amendments and/or integrate the changes into your own application • Please follow up with Sarah McIntosh if you have any questions or concerns, or if you need immediate details about the amendments (sarahmc@uvic.ca) Welcome to the Silent Genomes Activity 2 Newsletter! Silent Genomes is a national project consisting of 4 “Activities” all together. Activity 2: Precision Diagnosis for Indigenous Families with Genetic Conditions is all about addressing barriers to accessing genomic health care, and bringing testing to at least 200 Indigenous children with suspected genetic disorders. HIRING and INVOICING • Funding has been released for the hiring of genetic counsellors and/or research assistants as part of our National Clinical Network (NCN), you should have already received an example invoice from us • Please inform Karen Jacob (karen.jacob@bcchr.ca) and Sarah McIntosh (sarahmc@uvic.ca) of any new personnel working on SG Activity 2 – see our “Hiring” and “Training” documents attached to this email, to be completed upon hire of new personnel • Please send invoices to our financial manager Dora Pak (dora@cmmt.ubc.ca) and cc Karen Jacob DIFFUSION POLICY A “diffusion policy” is currently being drafted and will be shared with you once it is ready. In the meantime, PLEASE INFORM US OF ANY TALKS, ABSTRACTS, MEDIA or PUBLICATIONS INVOLVING SGs which you may be planning, no matter how big or small! Allow us to introduce ourselves. The SG Activity 2 Management Team: Dr. Anna Lehman Activity 2 Co-Lead Dr. Laura Arbour Silent Genomes Project Lead Dr. Maja Tarailo- Graovac Activity 2 Co-Lead Sarah McIntosh Genetic Counsellor, Research Manager Karen Jacob Genetic Counsellor, Study Coordinator **PLEASE READ THE FOLLOWING FOR SOME IMPORTANT UPDATES**
- 29. Genome Prairie GAPP proposal: Canadian Prairie Metabolic Network
- 30. 2 Pillars • Clinical Pillar : Dr. Cheryl Rockman- Greenberg- Academic Lead [U of MB] • Diagnostic Pillar : Dr. Aneal Khan –Receptor Lead [Discovery DNA])
- 31. Canadian Inherited Metabolic Diseases Research Network (CIMDRN) • Canadian Inherited Metabolic Research Network (CIMDRN) has developed a pan- Canadian research infrastructure to collect and assemble pediatric patient data • Generate evidence that will directly inform and improve health care and outcomes for patients IEM • CIMDRN is creating a sustainable network and data resource to support on-going research • Led by Dr. Beth Potter, CHEO
- 33. “Research” • Basic; Clinical; Service and Policy – Population –based; Precision medicine targeted • As pace of change increases health care data universe is expanding ie volume increasing leading to challenges of integrating data sets to achieve better health outcomes, QOL improvement, and at an affordable price • Challenges of governance, privacy, access, partnerships with industry, larger diverse workforce in multiple sectors needed