Rare Disease Day 2015 Conference Day 1: Gail Ouellette

1. Vers une Stratégie québécoise en matière de maladies rares

2. What was done 2010- 2014
Regroupement québécois des maladies orphelines
RQMO meeting October 2010
National Assembly Feb. 2013
- Call for a Quebec National Strategy
- Call to set up a committee to work
on strategy
- Advocacy on specific issues:
- Access to treatments
- Research on rare diseases
- Newborn screening
- Increasing resources in genetics
- Information on rare diseases

3. Summit on Rare Diseases – 26 February 2015

4. Summit on Rare Diseases - Who
• 24 representatives of patient organisations, isolated patients
and parents/caregivers
• 14 physicians, researchers or other health professionals
• 10 representatives of pharmaceutical industry
• Context: new government; budget cuts; reform of health
system

5. Towards a Quebec Strategy on rare diseases
• Six themes, 41 proposals
1) Information and education of health professionals
2) Diagnosis and prevention
3) Medical management
4) Treatment (access to orphan drugs and other treatments)
5) Research on rare diseases
6) Access to social services
• From: survey on rare diseases in Quebec, 2011 forum, consultation
of various stakeholders

6. 1) Information and education of health professionals
• Faculties of medicine:
– Introduction to rare diseases and their specific issues to medical students with
testimonies from patients/parents/caregivers
– Conferences on rare diseases in various medical specialties with emphasis on related
rare diseases
– Include rare diseases in continuing education
• Other health professions
• Patient-parternship programs
• Collaboration with patient organizations
• Information: promote Orphanet, Orphanet-Quebec, the RQMO’s
Rare Disease Information and Resource Centre
• Register of expert physicians (intranet)

7. 2) Diagnosis and prevention
• Diagnosis of rare diseases, particularly genetic diseases, be
included in medical training and continuous education
• Better training of physicians in identifying possible hereditary
disorders in families or risk of genetic disorder
• Registry of expert physicians
• Telemedecine
• Clinic for non-diagnosed patients (end the diagnostic odyssey)

8. 2) Diagnosis and prevention (followed)
• Increase resources in medical genetics
– Particularly genetic counsellors, including outside of genetic services
– Reorganize genetic services to increase access to genetic counselling
– Licensing of genetic counsellors; sharing of medical acts
• Outreach genetic clinics in Quebec regions
• Establish protocols for genetic testing for uniform offer of tests
across genetic/medical services
• High throughput sequencing: set up genomic centres to make
available on a clinical basis, including adults with non diagnosed
putative genetic diseases; use external laboratories in the
meantime

9. 2) Diagnosis and prevention (followed)
• Prevention
– Screening by biochemical/genetic testing:
• Preconception: population screening in SLSJ region, etc.
• Prenatal: update the provincial program
• Newborn: INESSS proposal to add 21 metabolic diseases
– Medical and family history

10. 3) Medical management
• Access to family doctor
• Specialized clinics in Orphanet
• Patients from all regions should have at least one annual visit to specialized clinic
• When no specialized clinic:
– Registry of expert physicians
– Consultation with specialized clinic outside of Quebec
– Find system to share protocols
• Coordination of care:
– « infirmière-pivot » or care coordinator, particularly in genetic services
– Integrated care services in pediatrics
– Internist as care coordinator for adults
– « Dossier santé Québec »

11. 3) Medical management (followed)
• Reference centres (ex. Europe) for patients needing regular
surveillance and specialized care (accreditation)
• Telemedicine
• Emergency services
– Make emergency protocols available
– Use of Orphanet/expert registry to contact specialized clinic/expert
• Collaboration with patient organizations (including therapeutic
education programs)

12. 4) Access to orphan drugs and other treatments
• Revisit HTA process for orphan drugs
– Therapeutic value: take into consideration variability of disease and drug effect;
therapeutic uncertainty
– Pharmaco-economics: QALY, revisit societal and ethical values
• Managed access
• Specialized treatment centres
• Risk sharing agreements/development of proof
• « Programme de patient d’exception »: centralize information for equity
• Fund for drugs not authorized by Health Canada
• Funding of other types of treatments: tx said to be esthetic, protheses,
medical supplies, medical equipment, etc.

13. 5) Research
• Genomics/genetics, yes, but translational and not only drug development
• At least 5 % of dedicated funding from Fonds de recherche Québec – Santé
• Funding for social science studies
• Co-funding with private foundations/pt organizations
• Development of therapies (various options)
• Patient-centered research (participation); collaboration wiht pt
organizations
• Registries/biobanks: participate in international efforts
• Research coordination: integrated; multidisciplinary; specialized clinics
• Research on undiagnosed diseases
• National and international collaborations

14. 6) Access to social services
• Provincial expertise on rare diseases for requests for:
– Handicaped/invalidity status, medical insurance, access to rehabilitation centres,
adaptation in school and workplace, etc.
• Parents of children with RDs:
– Financial compensation when one parent stays at home
– Better information of available services
– More services from local community clinics
• Adults with RDs:
– Better access to social worker and/or psychologist; information on rights in the
workplace; housing and financial support for 18-65 yr old;
• Announcing diagnosis
• Support during diagnostic odyssey