Ethical and Community Issues
Raised by the International HapMap Project
The International HapMap Consortium devoted considerable time and resources
to try to ensure that the map was designed, developed and will be used in a
manner that is sensitive to a wide range of ethical and social issues.
Following the example set by the Human Genome Project, the International HapMap
Project established a group of bioethicists and social and behavioral scientists,
who worked alongside genomic researchers, to formulate important aspects of
this large, complex study. These issues included: how to design a scientifically
valid sampling strategy, engage the individuals and communities that were approached
to donate samples, decide how the populations would be described, and develop
understanding of the HapMap in order to maximize its benefits in current and
future studies.
This group, co-chaired by Ellen Wright Clayton, M.D., J.D., of Vanderbilt University
and Bartha Knoppers, J.D., Ph.D. of the University of Montreal, included members
from each participating country. For a complete list of members, see Ethical, Legal and Social Implications Group [hapmap.org].
Sampling Strategy
The HapMap is a powerful medical research tool intended to speed the discovery
of genetic contributions to common diseases. The HapMap, which describes the
common patterns of human genetic variation, can be used in studies that compare
the patterns of genetic variation (haplotypes) in people with a specific disease
to patterns in people without the disease. By identifying regions of the genome
that show differences in the haplotype patterns, researchers can home in on
those genomic regions to more efficiently find the particular genetic variants
that contribute to the disease.
To produce the HapMap, researchers analyzed blood samples from a total of
269 people from four large populations These populations are: Yoruba in Ibadan,
Nigeria; Japanese in Tokyo; Han Chinese in Beijing; and Utah residents with
ancestry from northern and western Europe.
These four populations were selected to include people with ancestry from widely
separate geographic regions. Researchers have found that most human populations
share the common haplotype patterns and the overall organization of genetic
variation is very similar. There are differences in the frequencies of some
haplotypes, however, so it was useful to include samples from several populations
and to identify where each set of samples originated. Still, none of the four
populations sampled should be considered representative of all populations on
the same continent.
Except for the Utah samples, all of the samples were newly collected for this
project. The Utah samples, which have already been studied for many other genetic
research projects, were used only after the donors provided a new and specific
consent for the HapMap Project.
Privacy and Informed Consent
The HapMap raises few risks to the privacy of individual donors because the
blood samples used to make the resource were collected without any medical or
personally identifying information. In a further step to ensure the complete
anonymity of the donors, the consortium collected more samples than were actually
used. That means that no one, not even the donors themselves, will ever know
for sure whose samples were used to develop the HapMap.
However, each set of samples is identified by population to facilitate the
selection of optimal markers of genetic variation, called tag SNPs, in future
studies searching for genes in specific populations. This labeling raises complex
ethical issues because such studies have the potential to affect all members
of a population, as well as members of closely related populations, even though
they did not personally donate samples for the HapMap. For this reason, processes
were implemented to identify, understand and, to the fullest extent possible,
address the concerns of both individuals and groups being approached for sample
donation.
The goal of the individual consent process was to provide prospective sample
donors with the information they needed to ensure their decisions about whether
to donate a blood sample were voluntary and informed. All donors were asked
to give consent for their samples to be used not just for the HapMap itself,
but in many types of future genetic variation studies. Such studies may examine
how genes are regulated, the biology of DNA, how new variations arise and the
genetic history of human groups. Researchers explained to donors that the benefits
of the HapMap and of other genetic variation research may not become apparent
for some time and that the donors themselves may not benefit directly. For more
information about the consent process, go to Consent Forms [hapmap.org].
Community Engagement
Before obtaining informed consent from individual donors, researchers initiated
a process of community engagement. The goal of this process was to give a broad
range of community members in each locality where people were being approached
to donate samples the opportunity to share their views about the ethical, social
and cultural issues the project raised for themselves, their families, their
immediate communities and the broader populations to which they belong.
Each community where new samples were collected also had input into how samples
from their community would be identified. Thoughtful labeling will help reduce
the risk that findings based on HapMap data will be over-generalized. For the
complete guidelines on referring to HapMap populations, see Guidelines for Referring to the HapMap Populations in Publications and Presentations [hapmap.org].
In addition, a community advisory group (CAG) was established in each community
where new samples were collected to ensure that all future research using the
samples is consistent with the terms of the informed consent. The non-profit
Coriell Institute for Medical Research in Camden, N.J., which is storing and
distributing the samples, will report on a quarterly basis to each community.
Each quarterly report will provide the communities with a list of researchers
to whom the samples have been distributed and the nature of the research for
which the samples are being used. In addition, the report will include information
about scientific papers published by the HapMap consortium and by other researchers
who have conducted studies that used HapMap data or samples.
Free, periodic newsletters, translated into the languages of all participating
communities, will provide both communities and the general public with additional
information about the HapMap Project, the uses of the HapMap and the participating
communities themselves. The newsletters are available at: International HapMap Resource [coriell.umdnj.edu].
Genetic Discrimination and Determinism
Because researchers did not collect medical or personally identifying information,
there is virtually no risk that the HapMap itself will lead to discrimination
against any of the individual sample donors.
However, in future studies, some genetic variants are likely to be identified
that promote wellness and protect against disease, while other variants will
be identified that increase the risk for particular diseases. If a higher frequency
of a genetic variant associated with a particular disease is found in the samples
from one population and the findings are erroneously assumed to apply to most
or all members of that group, the potential for stereotyping or discrimination
may arise.
Although the HapMap was created as a tool for medical research, researchers
in other fields, such as anthropology, may use the genetic variation data contained
in the HapMap to facilitate their studies of human history and the relatedness
of human populations. Some groups may find such studies problematic, especially
as they relate to traditional notions of race and ethnicity.
Another problem with the interpretation of genetic variation is assuming that
"genetic" means "unchangeable," and that because someone
has a particular genetic variant they are "doomed" to get the disease.
These incorrect assumptions are called genetic determinism. Genetic determinism
overlooks the strong contributions that environmental factors make to diseases
and that there may be ways to reduce the risk of getting those diseases. So,
even though people may have genetic variants contributing to their risk of a
disease, many of them will never get the disease.
Genetic discrimination and genetic determinism are problems that may arise
from any association study relating genetic variation to disease risk and are
not unique to studies that will use the HapMap. Nevertheless, the HapMap consortium
is making concerted efforts to reduce the risk of such problems by educating
researchers on how to carefully design their studies and describe their results.
Last Reviewed: December 30, 2008
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