Barriers and Tools to the Present and Future of Population Genetics

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Barriers and Tools to the Present and Future of
Population Genetics

• Pr Bartha Maria Knoppers
• Canada Research Chair
• in Law and Medicine

HGM 2006
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Council of Europe
CE Recommendation Rec(2006)4 of the Committee of
Ministers to member states on research on
biological materials of human origin, March 2006
Article 17 1. 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.
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HUGO Ethics Committee
Statement on Human Genomic Databases, 2002

• 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.

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HUGO Ethics Committee (continued)
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
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Outline
Nature Reviews Genetics Jan. 2006 Ethics
watch Policy barriers in coherent
population-based research Bartha Maria
Knoppers and Alastair Kent

• Barriers
• Tools
• Future ?

Nature Reviews Genetics Feb. 2006 Ethics
watch Tool-sharing issues in coherent
population-based research Bartha Maria
Knoppers and Alastair Kent
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 Realpolitik 

• Time
• Infrastructures
• Monogenic model
• Perceptions
• Governance

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Data from more than 33 000 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.
Wendler D. One-time general consent for research
on biological samples. BMJ. 2006
332(7540)544-547.
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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.
Lowrance WW. Access to collections of data and
materials for health research. Medical Research
Council and Wellcome Trust, 2006, p.36
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Knoppers BM, Saginur M. The Babel of genetic data
terminology. Nature Biotechnology. 2005
23(8)925-7
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Tools

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

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RMGAStatement of Principles on the Ethical
Conduct of Human Genetic Research Involving
Populations, 2003

• Principles
• Individuality
• Diversity
• Complexity
• Reciprocity
• Solidarity
• Security
• Accountability
• Equity
• Citizenry
• Universality

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http//www.popgen.info/
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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.
The Academy of Medical Sciences. Personal Data
for Public Good Using Health Information in
Medical Research. January 2006, p.4.
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http//www.hapmap.org/
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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.

http//www.p3gconsortium.org/
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P3G Operational Chart
P3G General Assembly
Funders Auditors
P3G Board of Directors
P3G Secretariat
P3G Steering Committee
IWG 1 (Social/Clinical/ Environmental)
IWG 2 Informatics
IWG 3 Ethics and Governance
IWG 4 Epidemiology/ Biostatistics
Core
Core
Core
Core
Core
Core
Core
Core
Core
Core
Core
Core
P3G OBSERVATORY
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P3G Membership
Regular Member Associate Member Individual Member
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Future ?

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

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