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
Plan of the Presentation
• GE
3LS Scan of “Recent” Genomic Research
• GE
3LS Emerging Issues: Key informants
GE
3LS 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
GE
3LS 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
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
Orientation of New Genomics
Individual Family Population
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
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
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)
GE3LS Research Challenges
• Multidisciplinary Competence ( developing awareness and establishing networks)
• Knowledge Transfer ( educating medical professionals, informing public policy)
GE3LS Research Challenges
• Resources (building GELS capacity, databases) • Public/Private Funding
Conclusions Research Challenges • Multidisciplinary • Knowledge transfer • Integration New Genomics • Susceptibility • Reproductive • Public Health
Key informants SSHRC Team Lucie Marisa Bucci
Béatrice Coly Dominique Gauthier
Francois Brouillet