Barriers and Tools to the Present and Future of Population Genetics Pr Bartha Maria Knoppers Canada Research Chair in Law and Medicine HGM 2006

CE Recommendation Rec(2006)4 of the Committee of Ministers to member states on research on biological materials of human origin, March 2006 Article A population biobank is a collection of biological materials that has the following characteristics: i. the collection has a population basis; ii. it is established, or has been converted, to supply biological materials or data derived therefrom for multiple future research projects; iii. it contains biological materials and associated personal data, which may include or be linked to genealogical, medical and lifestyle data and which may be regularly updated; iv. it receives and supplies materials in an organised manner. Council of Europe

HUGO Ethics Committee Recognizing: The potential global good arising from genetic research; The scientific and clinical uses of genomic databases; The potential for conflicts between the free flow of information that is crucial to research advances and the legitimate rights to return from research expenditure; The potential risk of misusing genetic data; The need to rapidly place primary genomic sequences in the public domain. Statement on Human Genomic Databases, 2002

Recommendations: 1. Human genomic databases are global public goods. a. Knowledge useful to human health belongs to humanity. b. Human genomic databases are a public resource. c. All humans should share in and have access to the benefits of databases […] HUGO Ethics Committee (continued) Statement on Human Genomic Databases, 2002

 Barriers  Tools  Future ? Outline Nature Reviews Genetics – Feb Ethics watch: Tool-sharing issues in coherent population-based research Bartha Maria Knoppers and Alastair Kent Nature Reviews Genetics – Jan Ethics watch: Policy barriers in coherent population-based research Bartha Maria Knoppers and Alastair Kent

« Realpolitik » Time $$$ Infrastructures Monogenic model Perceptions Governance

Wendler D. One-time general consent for research on biological samples. BMJ. 2006; 332(7540): “Data from more than people around the world support offering individuals a simple choice of whether or not their samples can be used for research purposes, with the stipulation that an ethics committee will decide the studies for which their samples are used. This approach offers a method that could be adopted across institutions and around the world.”

Lowrance WW. Access to collections of data and materials for health research. Medical Research Council and Wellcome Trust, 2006, p.36 “Few issue clusters are identified by researchers as so urgently needing resolution as those surrounding confidentiality and anonymisation. They are not unique to data sharing activities, but they are central to them.”

Knoppers BM, Saginur M. The Babel of genetic data terminology. Nature Biotechnology. 2005; 23(8):925-7

Tools Principles for population studies Semantic interoperability Population studies toolbox Broad consent Public aggregated datasets Prospective harmonization

RMGA Statement of Principles on the Ethical Conduct of Human Genetic Research Involving Populations, 2003 Principles: Individuality Diversity Complexity Reciprocity Solidarity Security Accountability Equity Citizenry Universality

The Academy of Medical Sciences. Personal Data for Public Good: Using Health Information in Medical Research. January 2006, p.4. “Identifiable data can be used for medical research without consent, provided that such use is necessary and is proportionate with respect to privacy and public interest benefits.”

Public Population Project in Genomics (P3G) P3G Objectives: Connect the leading public population genomics projects. Provide necessary coordination, harmonization and standardization so the combined results be used for the advancement of science around the world. Develop common understanding of the socio-ethical and legal issues Foster a deeper understanding of the relative contribution of genetic and non-genetic determinants to health and disease. Transfer this knowledge to the international community so as to optimize benefits for public health.

P3G General Assembly P3G Board of Directors P3G Steering Committee IWG 1 (Social/Clinical/ Environmental) P3G Secretariat Core IWG 2 Informatics IWG 3 Ethics and Governance IWG 4 Epidemiology/ Biostatistics Core Funders Auditors P3G OBSERVATORY P3G Operational Chart

3 Regular Member Associate Member Individual Member P3G Membership 3

Future ? Sovereignty and sharing Common heritage? Global public goods? Public trusteeship?