SSHRC - ERA - SAGE Workshop

Research on the Ethical, Legal and Societal Aspects of

Human Genomics: North America

Denise Avard PhDDirector 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 EraEmerging 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

Individual Family

Population

Communities

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• Multidisciplinary• Knowledge transfer• Integration

New Genomics

• Susceptibility

• Reproductive

• Public Health

Key informants

SSHRC Team

Lucie Marisa Bucci

Béatrice Coly

Dominique Gauthier

Francois Brouillet

Thank you !