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

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

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

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

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

Orientation of New Genomics Population Communities Individual Family

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

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) Classical dilemmas are unresolved

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

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

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

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