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The International HapMap Project:
Ethical, Social, and Cultural Issues
[Names and institutions of presenters]
Goal of the HapMap Project
To develop a resource to facilitate future
studies that relate human genetic variation
to health and disease
The HapMap Will Facilitate Comparisons Among:
Individuals
Groups
Because the HapMap will facilitate comparisons among both individuals and groups, the ethical issues are especially challenging.
Populations Included Yoruba (Ibadan, Nigeria)
30 parent-child trios
Han Chinese (Beijing, China)45 unrelated individuals
Japanese (Tokyo, Japan)45 unrelated individuals
CEPH (Utah residents with Northern & Western European ancestry)30 parent-child trios
Inclusion Criteria for Populations Yoruba
4/4 Yoruba grandparents
Han ChineseAt least 3/4 Han Chinese grandparents
Japanese“Japanese ancestry”
CEPH Collected in 1980; inclusion criteria not specified
Inclusion Criteria for Individuals Adult age
Competent to provide informed consent CEPH donors:
Reconsent from living donors
Local IRB gave permission to use samples from deceased donors
Individual Privacy Protections
No names or other identifying information
No medical information
Only genotype information and sex
(on Internet)
More samples collected than used
Why Sample by Population?
Some Facts About Populations
Any one population includes about 90% of the genetic variation that exists throughout the world.
The most common haplotypes are expected to be found in all human populations.
Thus, the HapMap could have been developed with samples from any one population.
But…………
The frequencies of particular haplotypes vary among populations.
Population differences in haplotype frequencies are important for discovering genes that influence health and disease.
So…………
Studying samples from several populations with different ancestral geographies will make the HapMap most useful for studies in multiple populations (both those sampled and not sampled).
A grid sampling strategy would have ignored population structure, making the HapMap less useful.
Why These Populations? Scientific reasons:
* Recommendation to include samples from at least 3 Old World continents* Pilot data showing range of haplotype frequencies
Ethical reasons:* No small, isolated populations* Inclusiveness (find some less common variation)
Practical reasons:* Established relationships with communities* Funding agency interest
Plans to Study Other Populations NIH is organizing sample collection from several additional populations.
These samples will initially be genotyped across a limited number of regions.
The samples may be genotyped across the full genome and added to the HapMap if the haplotype patterns differ substantially and the tag SNPs for the already-studied populations are inadequate to describe them.
Declining genotyping costs will make this feasible.
Scientific Rationale forIdentifying Populations
Enables researchers to choose the most efficient sets of tag SNPs in future association studies in particular populations
Allows the accumulation of genetic and environmental data on any particular population
Ethical Rationale forIdentifying Populations
Prevented false sense of security among donors that not disclosing their population identities would have prevented those identities from being discovered
Provided opportunity for proactive consideration of the scientific, ethical, and cultural factors relevant to the decision how to identify each population
Concerns Raised by Labeling Populations Group stigmatization, discrimination
(if a higher frequency of a variant associated with a stigmatizing disease is found in one population and the results are improperly over-generalized)
Population history studies (challenge to religious convictions, established legal or political claims)
Reification of race (a mostly social construct) as a highly meaningful biological construct
Other Concerns
Too much focus, money spent on genetic research, not enough on ensuring access to basic health care
Too much focus on genetics, not enough on environment, as contributor to disease risk
Intellectual property, commercialization (and no immediate benefit to participating communities)
Addressing Group Concerns Through Community Engagement
Also called community consultation, public consultation, community review
NOT community consent
A chance for communities to share their views about the ethical, social, and cultural issues the Project raises, provide input on how their samples should be collected and described, and identify any other relevant community concerns
Methodologies
Individual interviews
Focus groups
Community surveys
Town meetings
International Guidelines
Human Genome Organisation (HUGO), Statement on the Principled Conduct of Genetics Research (1996)
Council for International Organizations of Medical Sciences (CIOMS), International Ethical Guidelines for Biomedical Research Involving Human Subjects (2002)
United Nations Educational, Scientific and Cultural Organization (UNESCO), Universal Declaration on the Human Genome (1997)
United Nations Educational, Scientific and Cultural Organization (UNESCO), International Declaration on Human Genetic Data (2003)
Policy on the Responsible Collection and Use of Samples from Identified Populations
Coriell Institute for Medical Research
National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository
http://locus.umdnj.edu/nigms/comm/submit/collpolicy.html
Samples Stored at Non-Profit Coriell Institute for Future Studies Broad consent given for future studies of genetic
variation
Cell lines created
Cell lines and DNA made available to academic, government, and commercial researchers around the world
Protocols for all future studies must be approved by Coriell Institute’s IRB
Community Advisory Groups (CAGs) Way for participating communities to stay
informed about how stored samples and HapMap are being used
Quarterly reports and annual newsletter
Periodic meetings
Coriell Institute will provide up to US $1,000 per year to defray expenses
Withdrawal of Samples and Data
Individuals cannot withdraw their samples or data because the samples do not have individual identifiers.
A CAG can request withdrawal of a community’s samples after careful consideration, reflecting the views of a substantial portion of the community.
Genotype data already in the HapMap database cannot be withdrawn because they will already have been widely distributed.
Commercialization
Companies may develop drugs, diagnostic tests, and other commercial products from future research using HapMap data.
However, no commercial products will be developed as part of the HapMap Project.
The Coriell Institute prohibits commercialization of the stored samples.
Patents and Data Release
Project participants will not seek patents on the data they generate for which they have not demonstrated a “specific utility”.
Project participants will not use Project data for other projects in their laboratories before the data are released.
An interim protective strategy has been adopted to try to ensure that no restrictive patents are filed by researchers who use HapMap data (click-wrap license).
Compensation and Profits
Donors were compensated for their time, travel, and inconvenience.
Donors will not share in profits resulting from future development of commercial products resulting from research based on HapMap data.
Benefits and Reciprocity The HapMap is expected eventually to benefit the
health of all people.
The health benefits will take a long time to materialize, especially in resource-poor countries.
Donors receive no immediate health benefits from providing samples.
An appropriate community benefit is being negotiated with the CAG in resource-poor Nigeria as a demonstration of reciprocity.
An Unanswered Question
Is spending more than US $120 million to
develop the HapMap ethically justified when
so much of the world’s population lacks
access to basic health care?