Rare Disease Day 2015 Conference Day 1 Presented by Wayne Critchley CORD Board of Directors

1. A Strategy for Rare Diseases
in Canada
Where are We Now?
What Else is Needed?
Presented by: Wayne Critchley
CORD Board of Directors

2. Does Canada Need a Rare Disease Strategy?
 It took Miriam six years, 13 specialists, and three misdiagnoses to
get the right diagnosis. In the meantime, she underwent six
unnecessary surgeries.
 Tony’s doctors didn’t know that the “rare” tumours that led to his
liver failure could have been treated with a readily available
cancer drug.
 Newborn screening in Joey’s province did not include his rare
disease. His parents had two more boys with the same condition
before they realized something was seriously wrong.
Will a Canadian Rare Disease Strategy help avoid these
tragic outcomes? Yes. But only if everyone is aware,
involved, and committed.
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3. Eight Goals to Optimize Outcomes
1. Enhancement of public awareness of rare diseases and their public health
impact;
2. Canada offers an environment that recognizes the diversity of rare diseases
and is responsive to the wide-ranging needs of those living with them;
3. Prevention and early detection of rare diseases are regarded as important
goals of public health;
4. Communities are resourced to provide support to individuals with rare
diseases and their families;
5. Timely and equitable access to seamless care for all individuals with rare
diseases, regardless of where they live;
6. All decisions informed by the best available evidence, generated throughout
the course of disease;
7. Sustainable mechanisms for providing access to promising therapies for rare
diseases; and
8. Canada is a world leader in enabling and fostering innovative research
around the prevention, diagnosis and management of rare diseases.
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4. Goal 1: Public Awareness
 Action 1: Establish Canadian definition of rare disease.
 Now: Proposed adoption of “1 in 2,000” allows harmonization with EU
orphan medicines
 Still Needed: Collaboration/consensus across stakeholders at different
levels in Canada and internationally; what about “personalized”
medicines?
 Action 2: Recognize rare diseases within health and social
systems
 Now: Limited data on personal and social impact
 Need: Coding for rare diseases (int’l); burden of illness studies to
understand impact
 Action 3: Communicate to public on impact of rare diseases
 Now: CORD, disease-specific groups and networks disseminating
information; connecting with each other
 Need: Support for patient groups; collaborative activities; balanced
information to public
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5. Goal 2: Recognize diversity; wide-ranging
needs
 Action 1: Understand diverse needs of individuals
 Now: (Some) Disease-specific patient registries; Orphanet in Canada;
some centres of excellence and networks (e.g. MICYRN)
 Need: Harmonized patient registries; nation-wide Centres of excellence
linked to international
 Action 2: Coordinate approaches to diverse needs
 Now: Paediatric centres for metabolic diseases; newborn screening;
genetic networks; some comprehensive care clinics
 Need: Inventory of services needed
 Action 3: Recognize rare disease in policies, insurance, etc.
 Now: CLIHA risk pooling for expensive drugs; screening programs
 Need: Multistakeholder involvement, integration of care, extension of
programs for vulnerable populations
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6. Goal 3: Prevention & early detection
 Action 1: Improve technical capabilities to ensure
equitable access to screening and diagnostic services
 Now: Newborn screening; also molecular genetic technologies
 Need: panCanadian collaboration and int’l standards
 Action 2: Implement preventive services across provinces
 Now: European guidelines for screening and testing; family
counseling in European Rare Disease Plans
 Need: Canada to follow UK, Ireland, France and other leaders
 Action 3: Develop system-wide early detection
 Now: Newborn screening; natural history registries
 Need: Natural history studies; wide range of healthcare
professionals engaged
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7. Goal 4: Communities resourced for support
 Action 1: Understand social and community support
needed
 Now: Rare Disease Day awareness and political momentum
across sectors and community providers; CORD patient
survey
 Need: Public funding for community and volunteer groups
 Action 2: Develop integrated social support systems
 Now: Some existing programs in other jurisdictions
 Need: Collaboration with allied HCPs; mobilize agencies
providing social, education, employment services
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8. Goal 5: Timely, equitable, seamless care
regardless of residence
 Action 1: Develop metrics for assessing timeliness of care
 Now: (Some) disease-specific guidelines (PKU, CF, hemophilia, muscular
dystrophy)
 Need: EHRs across specialty clinics as basis for patient registries;
agreement on reasonable wait times
 Action 2: Increase capacity in medical/other professional
education
 Now: Training of health professionals in rare diseases
 Need: Inventory of educational programs; integrated case studies
 Action 3: Reduce barriers to care
 Now: (Some) collaborative initiatives functioning as centres of excellence
 Need: Genome sequencing to accelerate diagnosis; telemedicine;
satellite centres linked to centres of excellence
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9. Goal 6: Evidence-based Decision-Making
 Action 1: Knowledge about natural progression of diseases
 Now: Patient Organizations invest in registries, international databases
(PhenomeCentra)
 Need: Coordinated approaches to developing patient registries; linkage to
EHRs; address privacy and genetic discrimination concerns
 Action 2: Innovative methods for generating evidence
 Now: Regulatory agencies worldwide guidance of clinical trials; Canada’s
Orphan Drug Regulatory Framework; Managed Access Programs (some)
 Need: Research methods and pilot studies to understand rare diseases; societal
burden of rare diseases
 Action 3: Agreement among decision makers on evidence expectations
 Now: Health Canada NOC and NOC/C with priority review; int’l varying
definitions of benefit/risk (EMA, FDA); lack consensus with HTA/payers
 Need: Agreement among regulatory, HTA, payers on evidence requirements
determined pre-clinical trials
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10. Goal 6: Evidence-based Decision-Making
 Action 4: Engage patients and families in generating
evidence throughout lifecycle
 Now: CDR/pCODR/Provincial input; pilot Health Canada
input
 Need: Resources and support for patient groups to provide
input
 Action 5: Develop Clinical Practice Guidelines
 Now: France, Orphanet, EU RARE-Best practices; little done in
Canada
 Need: Consortia to link with international initiatives; engage
professional societies
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11. Goal 7: Sustainable Access to Therapies
 Action 1: Develop approach for Managed Access
Programs
 Now: HTA recommendations to “provide with criteria and/or
lower price; Some MAPs for rare disease drugs; panCanadian
Pharmaceutical Alliance to promote “national” pricing and
access criteria
 Need: Systematic approach to MAPs; timely implementation
(sans HTA upon NOC); patient registries
 Action 2: Centres of excellence for access to
therapies
 Now: Prevalent in Europe; in Canada, CF, HIV, ultra-rare drugs
 Need: Resourcing of Centres of Excellence; engage HCPs in
developing access guideines
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12. Goal 8: Innovative Research on Rare
Diseases
 Now: Rare disease research requires multi-centre
coordination given rarity of condition and interdisciplinary
expertise required; Canadian expertise
 Need: Foster collaboration from basic through clinical
applications
 Strengths: Networks of expertise spanning research
continuum
 Need: Rare Disease Research Office/National Centre of
Excellence in Rare Diseases concerted RDR focus
 Need: Patient and patient organization involvement to
communicate, partner, advocate
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13. Thank You
For more information:
www.raredisorders.ca
Email: info@raredisorders.ca