1. SSHRC - ERA - SAGE Workshop Research on the Ethical, Legal and Societal Aspects of Human Genomics: North America
Denise Avard PhD Director of Research Genetics and Society Project Centre de recherche en droit public Université de Montréal

2. Plan of the Presentation
GE3LS Scan of “Recent” Genomic Research
GE3LS Emerging Issues: Key informants
GE3LS Research Challenges

3. GE3LS Human Genomic Research: Scan of Recent Research
Population Genomics
Public understanding and engagement
Ethical, legal issues in population research
Capacity building (REB, researchers)
Clinical Applications
Exchanges between health professionals and patients (mainly familial cancers and genetic testing)
Minority views regarding genetic testing
Psycho-social impacts of genetic information

4. GE3LS Human Genomic Research: Scan of Recent Research
Health Care System
Governance, policy development (genetic testing, privacy)
Commercialization
Education of health professionals
Non-medical Context
Public education of genetics
Human Dignity and Life
Race, ethnicity and social divide

5. A New Era Emerging Issues
Genetics 20th Century
Genomics 21st Century
Single gene diseases
Complex diseases with environmental interactions
Conditions are rare
Conditions are common (cancer, diabetes, heart disease)
Most people are unaffected
Whole populations/communities are implicated
Reactive approach (treat the symptom)
Preventive approach (susceptibility screening, pre-symptomatic treatment)
Primarily focus on health problems
Interest in human traits and behaviour (normal traits, hyperactivity)
Managed by geneticists and genetic counselors
Managed by diversity practitioners
Individual and family oriented
Population, individual and family oriented

6. Orientation of New Genomics
Population
Communities
Individual
Family

7. GE3LS Emerging Issues: Key informant suggestions
Medical Research
Unequal access to genomic research data and funds
Understanding what is normal
Standards in ethical review process
Pharmacogenomics
Genetic Services
Integration of GELS into mainstream medicine
Susceptibility testing and screening
Reproductive care, pre-natal/pre implantation
Testing children and adolescents
Communicating “risk” information

8. GE3LS Emerging Issues: Key informant suggestions
Health Care System
Regulatory oversight
Public health
Equitable access to genetic counselling & support services
Integration GELS into health policy
Genetic Databases (tissues, bio-banks, registries)
Governance (use of, access to, tissues and data)
Large scale databases ( e.g. Cartagene, bloodspots)
Consent for re-use of data or for unspecified uses
Commercialization

9. GE3LS Emerging Issues : Key informant suggestions
Non Medical Issues
Community consultation/public engagement
Understanding normal traits, behaviour, relationships between race, ethnicity and genomics
Privacy of genetic information( e.g. third parties)
Commercial (e.g. patents / licensing procedures / open access)
Classical dilemmas are unresolved

10. GE3LS Research Challenges
Multidisciplinary Competence ( developing awareness and establishing networks)
Knowledge Transfer ( educating medical professionals, informing public policy)
Integration of GE3LS into Genomic Projects

11. GE3LS Research Challenges
Resources (building GELS capacity, databases)
Public/Private Funding
Large and/or Small Projects

12. Conclusions Research Challenges New Genomics Multidisciplinary
Knowledge transfer
Integration
New Genomics
Susceptibility
Reproductive
Public Health

13. Thank you ! Key informants SSHRC Team Lucie Marisa Bucci Béatrice Coly
Dominique Gauthier
Francois Brouillet
Thank you !