Case Report
Community Genet 2007;10:186–198
DOI: 10.1159/000101761

Community Engagement and Informed
Consent in the International HapMap ProjectCharles Rotimi a Mark Leppert b Ichiro Matsuda e Changqing Zeng h Houcan Zhang i
Clement Adebamowo j Ike Ajayi j Toyin Aniagwu j Missy Dixon b Yoshimitsu Fukushima f Darryl Macer kPatricia Marshall d Chibuzor Nkwodimmah j Andy Peiffer b Charmaine Royal a Eiko Suda g Hui Zhao hVivian Ota Wang c Jean McEwen c and The International HapMap ConsortiumaNational Human Genome Center, Howard University, Washington, D.C., b Department of Human Genetics, University of
Utah, Salt Lake City, Utah, c National Human Genome Research Institute, US National Institutes of Health, Bethesda, Md.,
and d Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA; e Health Sciences
University of Hokkaido, Hokkaido, f Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, andg
University of Tsukuba, Eubios Ethics Institute, Tsukuba Science City, Japan; h Beijing Genomics Institute, Chinese Academy of
Sciences, and i Beijing Normal University, Beijing, China; j University of Ibadan College of Medicine, Ibadan, Oyo State, Nigeria;k
United Nations Educational, Scientific and Cultural Organization (UNESCO), Prakanong, Bangkok , Thailand

Key Words
Community engagement  Community consultation 
Public consultation  Informed consent  International
HapMap Project  Genetic variation research

Abstract
The International HapMap Consortium has developed the
HapMap, a resource that describes the common patterns ofhuman genetic variation (haplotypes). Processes of community/public consultation and individual informed consent were implemented in each locality where samples
were collected to understand and attempt to address bothindividual and group concerns. Perceptions about the research varied, but we detected no critical opposition to theresearch. Incorporating community input and responding
to concerns raised was challenging. However, the experience suggests that approaching genetic variation researchin a spirit of openness can help investigators better appreciate the views of the communities whose samples they seek
to study and help communities become more engaged in
the science.
Copyright © 2007 S. Karger AG, Basel© 2007 S. Karger AG, Basel
1422–2795/07/0103–0186$23.50/0
Fax +41 61 306 12 34
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Background

The International HapMap Consortium has completed the first phase of the International HapMap Project,
an effort to develop a haplotype map of the human genome that describes the common patterns of DNA sequence variation [1]. The HapMap will be used as a resource to facilitate future studies that relate genetic variation to health, disease and drug response [2].
DNA samples from 4 populations were studied in thefirst phase: Yoruba from Ibadan, Nigeria; Japanese from
Tokyo, Japan; Han Chinese from Beijing, China; CEPH
(Utah, US residents with northern and western European
ancestry; table 1). Investigators in Japan, the UK, Canada, China and the US analyzed all samples across the genome to determine their haplotype structure (the patterns of genetic variation). Based on the data generated,
future investigators searching for genes that contribute todisease will be able to choose tag single nucleotide polymorphisms (SNPs, or sites in the DNA sequence whereindividuals vary) that they can use to conduct their studies much more efficiently.

Dr. Jean McEwen
US National Institutes of Health, National Human Genome Research Institute5635 Fishers Lane, Suite 4076
Bethesda, MD 20892 (USA)
Tel. +1 301 402 4997, Fax +1 301 402 1950, E-Mail mcewenj@mail.nih.gov

Table 1. Populations included in developing the genome-wide HapMap

Population

Samples collected

Criteria for defining population
membership

Yoruba in Ibadan, Nigeria (YRI)

parent-adult child trios

4 of 4 Yoruba grandparents

Japanese in Tokyo, Japan (JPT)

unrelated individuals‘aim to collect from individuals whose grandparents
were all Japanese’

Han Chinese in Beijing, China (CHB)

unrelated individuals

at least 3 of 4 Han Chinese grandparents

CEPH (CEU) (Utah residents only; individuals
with Northern and Western European ancestry)

parent-adult child trios

not stated** The original aim was to collect samples from large three-generation families suitable for the construction of genetic linkagemaps.

In a later phase, samples from several additional populations will be analyzed across a subset of genomic regions to assess how well the tag SNPs based on the datafrom the 4 initial populations will work in other groups.
If these tag SNPs do not adequately capture the haplotype
patterns in those populations’ samples, additional tag
SNPs based on the data from these populations may need
to be identified and added to the database. Eventually,other investigators will likely provide data from otherpopulations.
The blood samples collected to develop the HapMap
were transformed into cell lines at the National Instituteof General Medical Sciences (NIGMS) Human Genetic
Cell Repository at the not-for-profit Coriell Institute for
Medical Research in Camden, New Jersey. The Coriell
Institute makes the cell lines and DNA available both toProject investigators and to investigators conducting other genetic variation research approved by the institutional review board (IRB). The samples have no individual
identifiers or associated medical information. However,each sample set is identified with a population label, sothat investigators can compare patterns of genetic variation not only among individuals, but among groups. Thisfacilitates the selection of optimal tag SNPs for use in genetic association studies in specific study populations.
However, labeling the populations raises complex ethicaland social issues, because all members of a populationand of closely related populations may be affected by the
research, regardless of whether they personally donatedsamples.
For this reason, and because of the wide range of crosscultural issues raised in a large, complex international
study of this type, the Project devoted considerable timeand resources to addressing the ethical and social issues.
Bioethicists as well as social and behavioral scientists
worked alongside genomics researchers in formulating
important aspects of the study design. The Project also
implemented processes to engage a range of people ineach of the communities approached for the donation of
new samples as well as a rigorous informed consent process, so that both individual and group concerns could be
anticipated, understood and, to the extent possible, addressed. In this paper, we describe these processes, review
some preliminary impressionistic findings and explain
how the Project responded to some issues raised. An earlier paper provided a general discussion of the ethical,
social and cultural issues the Project raises [3]. Later articles will describe in detail the methods and findings
from the individual sites discussed in this paper and fromthe additional communities approached for later participation.

Community Engagement for the HapMap

Community Genet 2007;10:186–198

Populations and Communities

While recognizing the considerable complexities inherent in defining such terms as ‘population’ and ‘community’, for the purposes of the Project, a ‘population’was defined as a group of individuals who have a common geographic ancestry, while a ‘community’ was defined as a group within a population with many local
units of social organization [4]. The scientific, ethical andpractical rationales for the decisions about which populations to include and which specific communities to engage, in the initial iteration of the HapMap, have beenpreviously described [1, 2].
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The CEPH samples studied for the Project were collected in 1980 from residents of Utah whose recent ancestors came primarily from northern and western Europe.
The label CEPH is an acronym for the Centre d’Etude
Polymorphisme Humain, the organization that originally collected the samples. Cell lines for the CEPH samples
have been publicly available since 1992 from the Coriell
Institute, and the samples have been used in numerous
previous genetic studies, including the development of
the human linkage map. HapMap investigators wanted tobuild on this valuable body of existing data, and thus
chose to use a subset of these same samples to develop the
HapMap. Although the original complete CEPH sample
set includes some samples from individuals in France andVenezuela and individuals identified as Amish from
Pennsylvania, only samples from the Utah CEPH donors
were used for the Project. Although the CEPH populationis the only one whose samples are included in the HapMap to be known by an acronym, investigators chose toretain this population label for the Project so that the
HapMap data could be readily integrated with preexisting data from other studies of these samples without engendering confusion within the scientific community.
The consent process originally used to collect the
CEPH samples, while quite comprehensive, did not meetthe stringent standards established for the Project. However, because the investigators who had collected the
CEPH samples had retained links to the donors’ identities
and had developed trust relationships with many donors,
it was feasible for them to recontact most of the still living
donors to seek new consent for their samples to be used
specifically to develop the HapMap. The local IRB gave
permission for deceased donors’ samples to be used. Because the local IRB required the maintenance of absoluteconfidentiality with respect to the identities of the CEPH
donors (who are known to others in their own families,
but not to any other CEPH donors), it was not feasible toreconvene the CEPH donors as a group for a formal community engagement process analogous to that conducted
for the Yoruba, Japanese and Han Chinese.
Unlike the case with the other 3 populations whose
samples were studied, the criteria used to assess ancestry
to determine eligibility for sample donation were notspecified in the case of the CEPH donors. This again,
however, reflects merely the historical reality that it was
not the norm to explicitly define the criteria for population membership when the CEPH samples were collected. What is known is that all the donors resided in Utahand that most of their recent ancestors (like the recent
ancestors of most Utah residents in the areas where the188

Community Genet 2007;10:186–198

samples were collected) came from northern or western
Europe [5].
The Yoruba samples were collected in Ibadan, the second largest city in Nigeria, with a population of nearly 2
million. The Yoruba are predominantly urban dwellers
with a complex population history and a complex political and social organization. The group constitutes the
majority population in Ibadan and approximately 30%
of Nigeria’s total population. Around 40 million individuals throughout West Africa self-identify as Yoruba[6]. Through previous research collaborations, the investigators enlisted to collect the samples had already developed a close working relationship with a Yoruba community in a particular area of metropolitan Ibadan. A
robust approach to community engagement was thus designed to include as many community members as possible. To be eligible for sample donation, individuals wererequired to have 4 of 4 grandparents who self-identified
as Yoruba.
In Japan, because of the population’s relative ancestralhomogeneity, it would have been possible to approach
people for participation almost anywhere in the country.
However, the sample collection took place in Tokyo,
which draws people from all geographic areas of Japan. It
included individuals who were, for the most part, alreadyaccustomed to participating in research. Individuals
wishing to donate were simply told that the aim was toinclude samples from persons whose grandparents were
all from Japan; donors were not asked whether they hada certain number of grandparents ‘born in Japan’ because
it was thought that some people might find this question
culturally insensitive. People from many parts of Japan,
and especially from the Kanto area surrounding Tokyo,
participated in the community engagement activities.
Thus, people from a wide range of backgrounds wereconsulted. In addition, some input was obtained throughconference presentations in several other countries.
The Han Chinese population is the largest of 56 ethnic
groups in China; about 90% of all Chinese people selfidentify as Han [7]. The specific community involved encompassed the entire residential community at Beijing
Normal University (BNU), which includes almost 35,000
people, nearly all of Han ethnicity. Due to the wide geographic area and range of backgrounds from which BNU
draws its residents, the community engagement, while situated in an academic environment, drew individuals witha range of backgrounds and ages. These individuals cameoriginally from 22 of 34 Chinese provinces, autonomous
regions, municipalities and special regions. For reasons ofpracticality, individuals who were approached to donate
Rotimi et al.

samples were told that they should have at least 3 out of 4
grandparents born in China who self-identified as Han.
However, given the BNU community demographics, all 4
grandparents of most donors were presumably Han.

Goals and General Approach

The goals of the individual informed consent process
were to provide prospective sample donors with the information needed to ensure that their decision to donate
was voluntary and informed. The goal of the community
engagement processes was to give a broad range of members of the communities approached for participation an
opportunity:– to share their views about the ethical, social and cultural issues the Project raised for them, their immediate communities, and the broader communities andpopulations of which they are a part– to provide input into such matters as how the samples
from their locality would be collected and described– to obtain extensive information about the Project sothat the decisions of individuals whether to donate
would be better informed– to remain informed about how the HapMap and thesamples are being used and about findings from futurestudies based on the HapMap or the samples.
Because it would have been impossible to seek input
from all, or even most, people around the world whoshared the relevant population labels, we focused our efforts primarily on the level of the specific localities fromwhich we hoped to recruit donors. We recognized the significant limitations inherent in this approach, but reasoned that through in-depth, detailed inquiries in thesecommunities, using a range of methodologies, we could
reach a reasonably large and diverse range of individuals
who, by virtue of sharing the same population labels withthe actual sample donors, would most likely be affectedby the research.
The aim of the engagement processes was not toachieve consensus or ‘community consent,’ even withinthese selected localities, nor to seek lay input into the advisability, as a matter of science policy, of launching a
project of this type. In this respect, the approach differedfrom the ‘participatory action’ research model used insome studies of public health interventions, in which
communities advise investigators on research priorities
and have considerable input into major aspects of study
design. The approach also differed from the formal community consultation processes required when conductCommunity Engagement for the HapMap

ing research in communities with sovereign status or
highly organized political structures, such as American
Indian tribal communities.
The specific approaches employed at each site to engage communities and to elicit individual informed consent were informed by relevant sets of then-existing local,
national and international guidelines [8–17]. The activities were conducted under the auspices of local ethics
committees.
Investigators were also guided by the community consultation policy of the NIGMS Human Genetic Cell Repository at the Coriell Institute (http://ccr.coriell.org/
nigms/comm/submit/collpolicy.html). This policy requires some form of community consultation or engagement, tailored to local cultural norms, before the repository will accept any new samples with population identifiers for its genetic variation panels. It also provides for theestablishment of a community advisory group (CAG) ineach community where new samples are collected, to serve
as a liaison between the community and the Coriell Institute to ensure that all research using the samples is consistent with the terms of informed consent (see Appendix 1).
In China and Japan, the community engagement/public consultation and sample collection activities were
funded by those countries’ participating genotyping centers, and local investigators conducted the work. In Nigeria, the work was funded by the US National Institutes of
Health (NIH) and conducted by US investigators in collaboration with local investigators. The NIH also funded
the process of obtaining new consent from the CEPH donors and the collection of samples from the additional
populations whose samples will be studied in a later
phase. At each site where new samples were collected, thecommunity engagement and sample collection teams included individuals trained in genetics, individuals withbackground or training in bioethics or social science, andothers (table 2).

Methodologies for Engaging the Communities andObtaining Informed Consent

At all 3 sites where participants were approached to
donate new samples, protocols were developed to engage
the communities; these protocols were separate fromthose used to obtain individual informed consent. As
noted earlier, community engagement of the CEPH donors, at least in a form analogous to that used with members of the other 3 populations, was not feasible becauseof IRB-imposed constraints related to individual donor
Community Genet 2007;10:186–198

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Table 2. Community engagement/public consultation teams

Population

Investigators

Institutions

Backgrounds

YorubaCharles Rotimi
Clement Adebamowo
Patricia MarshallCharmaine D.M. RoyalIke Ajayi
Toyin Aniagwu
Chibuzor Nkwodimmah

Howard University
University of Ibadan
Case Western Reserve University
Howard University
University of Ibadan
University of Ibadan
University of Ibadan

genetic epidemiology
epidemiology
anthropology/bioethics
genetics/bioethics
epidemiology
nursing
nursing

Japanese

Ichiro Matsuda
Darryl Macer
Eiko Suda
Yoshimitsu Fukushima

Health Science
University of Hokkaido
Eubios Ethics InstituteEubios Ethics InstituteShinshu University

genetics
medicinebioethics
bioethics
genetics

Han Chinese

Houcan Zhang
Changqing Zeng
Hui Zhao

Beijing Normal University
Beijing Genomics InstituteBeijing Genomics Institutepsychology
molecular biology
genetics

CEPH

Mark Leppert
Missy Dixon
Andy Peiffer

University of Utah
University of Utah
University of Utah

genetics
psychology
medicine

privacy. At the other 3 sites, however, no individual wasapproached to donate a sample until the process of community engagement was already well underway. Copiesof the consent forms were distributed widely in each community from the Project’s inception, however, to introduce the study and initiate discussion about its potential
risks and benefits.
Templates for an informed consent form for sample
donation and to obtain new consent from the living
CEPH donors were developed by an initial planninggroup, with input from bioethicists, social and behavioral scientists, and geneticists. Each team of investigators
responsible for community engagement (or, in the case of
the CEPH donors, the team responsible for obtaining newconsent) modified the consent documents as needed tomake them culturally appropriate for their locality. Individuals in the communities where new samples were collected were subsequently given an opportunity to provide
direct input into the consent form, although that process
in most cases did not lead to substantive modifications.
Both the modified informed consent forms and the sample collection protocols were reviewed by IRBs or ethics
committees at all the institutions involved.
The specific approaches to engaging the communities
and obtaining individual informed consent varied among
the sites because of the vastly different community struc190

Community Genet 2007;10:186–198

tures and cultural norms. In the Yoruba community approached for participation, it was necessary formally to
consult a community leader (the Baale) before any individuals were approached. In China, investigators secured
cooperation from the BNU administration and several
academic departments before beginning their work. In
Japan, where most of the work was carried out in a large
urban area and the community was more loosely organized, the approach was more open ended.
For the CEPH, where the samples had already beencollected and where thus, for historical reasons, the donors could not technically be engaged as a ‘community’
but instead only as individuals or families, the donors
were merely approached to give new consent, using an
individualized or family-based approach instead of agroup-based process. Because of the continued interactions with the donor families, investigators were able tolocate 44 of the original 47 families. Many were alreadyinvolved in a separate ongoing genetics research projectthat required them to return periodically for follow-up.
This gave investigators an opportunity to discuss the
HapMap Project in person with them. Those donors who
had already revisited the investigators were contacted by
mail, with telephone follow-up. The remaining donors
who had not been in recent contact or who did not initially reply were visited at home or called by a study coRotimi et al.

Table 3. Methodologies

Population

Individualinterviews

Focus
groupsPublicmeetings

Attitudinalsurveys

Other

Yoruba

7

1

3

231

initial working groupJapanese

20

8

5

377

5 conference presentations; 10 explanatory meetings

Han
Chinese

100

6

3

130

production of 9 min video compact disc (VCD) used
to introduce the project to interviewees

CEPH(new consent)

personal visits, mail contact, telephone
follow-up

ordinator, who explained the Project in detail and gavethem a chance to discuss it and ask questions.
Language and comprehension issues presented a major challenge during the community engagement and informed consent processes (see Appendix 2). Thus, openended discussions about the Project and the issues that itraises were encouraged. Major points contained in theconsent form were explained orally and individuals seeking additional clarification had an opportunity to ask
questions. In Nigeria, depending on their preference,
participants were administered the informed consent
procedures orally or in writing, either in English or Yoruba.
A detailed description of the methodologies employed
for the community engagement activities at the 3 sites
where new samples were collected is beyond the scope of
this paper, but will be outlined in separate papers by theinvestigators from each site. Methodologies ranged fromthe use of extended, semistructured individual interviews and focus groups to large public meetings or lectures (followed by discussion) and public attitudinal surveys (table 3). The extensiveness of the processes employed varied considerably among the sites due todifferences in the level of funding available for these activities. The empirical rigor of the processes for collecting
and analyzing the data also varied somewhat from site tosite. However, the processes were not specifically designed to provide data that were explicitly comparable
across sites. The processes were rather designed simply toelicit the views of a range of people within each community, including those skeptical about genetics research, toglean general impressions (which in some instances could
be little more than anecdotal) about the acceptability of
the goals of the Project and other pertinent issues. Open
discussion was encouraged at each site so that investigators could be alerted to any specific concerns and address

them to the extent possible. Thus, participants at each sitewere asked about their attitudes toward genetic researchin general and genetic variation research in particular(including research like the HapMap, which would haveno immediate health benefits). Participants were given
an opportunity to raise concerns about proposed methods of recruitment, privacy and confidentiality risks,
risks of discrimination or group stigmatization, issues relating to commercialization and intellectual property,
and any other pertinent matters.

Community Engagement for the HapMap

Community Genet 2007;10:186–198

Specific Elements of the Informed Consent Process

The consent process explained how the HapMap
would be developed and used in future studies to findgenes that affect diseases, drug response and other traits.
Prospective donors were told that neither names nor
medical information would be taken – only the name ofthe population from which the donor came – and that
more samples would be collected than would be used, as
an additional protection of individual privacy. For the
CEPH donors, links to the donors’ identities exist, but
only the investigators who collected the samples – not therepository, HapMap investigators or any other investigators who order the samples – have access to this information.
Prospective donors were also told during the consent
process that the samples would be sent to the Coriell Institute, transformed into cell lines and made available to
Project investigators and other investigators worldwide
for use in future genetic variation studies. All such futurestudies, however, need to be approved by the repository’s
IRB (and any other relevant ethics committees) to ensurethat the proposed research is consistent with the terms ofthe consent form.
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Because no individual identifiers are available for anyof the newly-collected samples, it will not be possible torecontact donors in the future to seek their consent toother studies. However, the consent form described thegeneral nature of future studies for which the samples
and the HapMap may be used, such as studies of the biology of DNA, how new variations arise, the genetic history of human groups, and how people from different
parts of the world are related. The consent form also expressly authorized use of the samples for gene expression
studies, but forbade their use for reproductive cloning.
The reference to cloning was included because of concerns expressed in some communities about this possibility. It was explained that the risks raised by the types
of future studies authorized in the consent form are unlikely to be different in kind from the risks raised by the
Project itself.
Prospective donors were also told that because of theabsence of individual identifiers, donors could neither receive individual feedback on the research findings nor
individually withdraw their samples or data. However, ineach community where new samples were collected, it
was explained that a CAG would be established, throughwhich the community would be able to stay informed
about general findings and how the HapMap and samples
are being used. Prospective donors were also informedthat a community could request, through its CAG, that
all of its samples be withdrawn from distribution in theunlikely event that a serious disagreement about futureuses of the samples arises that cannot otherwise be resolved.
Prospective donors were informed that the HapMap
would be publicly available in a database on the Internet.
It was explained that the genetic information available
about each donor would be quite extensive, but that it wasvery unlikely that any information could be linked to a
specific donor, at least without having another sample
from the donor for comparison.
Prospective donors were also told that they would receive no immediate health benefits from donating samples; any benefits would likely come only in the future, as
investigators use the resource to find genes related to disease and then gradually develop improved methods ofprevention, diagnosis and treatment. Donors were also
informed that they would receive no financial benefits
from participation, except for nominal compensation for
their time and travel. They were further advised thatwhile the Project itself would generate no commercial
products, such products might be developed from otherstudies based on the stored samples or information in the
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Community Genet 2007;10:186–198

HapMap, and donors would not be able to share in any
such profits.
The consent form specifically mentioned the potential
group risks associated with genetic variation research,such as risks of group stigmatization or discrimination(if investigators in future studies were to find that genetic variants associated with a particular disease were more
frequent in people from their group and this information
were overgeneralized to all or most members of the groupor to related groups). It was also explained that focus ongroup differences might ‘reify’ notions of race, thus potentially exacerbating societal prejudices.
In the Yoruba community, where investigators collected samples from parent-adult child trios, the proceduresfor handling findings of misattributed paternity or undisclosed adoption were also described; these procedures
had been similarly described to the members of the CEPH
donor families at the time the CEPH samples were originally collected. Prospective donors who were concernedthat someone in the family might not be biologically related were advised that they could, but did not have to,disclose this information. The Coriell Institute would test
all samples in the trios for relatedness and if it were to befound that not all family members in a trio were biologically related, no one would be told and the samples simply
would not be used for the HapMap.
Although the Coriell Institute routinely tests all samples it obtains for the presence of HIV (and destroys any
found to be infected), the Yoruba sample collection team
decided to require HIV testing of all prospective donors
prior to donation (with the opportunity for follow-up referrals and treatment where indicated). All the relevant
IRBs approved this procedure. Yoruba community members viewed the opportunity for free HIV testing as aform of benefit associated with Project participation (although no one who underwent the testing had a positive
test result). A separate process was used to obtain informed consent for the HIV testing.

Perceptions of Risks and Benefits

It is impossible to generalize from the perceptions ofpotential risks and benefits expressed by a small subset ofindividuals in the few specific localities where we did ourwork to everyone in these communities or to other communities. As noted earlier, most community engagement
activities were designed to glean only general impressions
about reactions to and concerns about the Project, andnot as rigorous empirical data gathering exercises. The
Rotimi et al.

general responses from those who took part in the community engagement activities are, however, instructive indemonstrating a range of perceptions about genetic variation research.
While the scientific details of the Project seemed
difficult for many people to understand, most individuals – even in instances where substantial linguistic andeducational barriers were present – appeared to comprehend the Project’s general purpose, as judged (albeit imperfectly) by what they communicated to investigators
when asked to explain their understanding of why they
were being asked to give samples. They also appeared to
be able to understand that they would receive no immediate personal health benefits by participating but that future generations might benefit.
People consulted in Japan expressed a diversity ofviews, ranging from skepticism, through indifference, toa generally positive attitude about the potential of genetic variation research. A similar range of views was expressed in the BNU Han Chinese residential community,
but among most people there, the Project was quite favorably received.
The Yoruba community as a whole demonstrated considerable enthusiasm about the Project. Many individuals
expressed a strong sense of pride that their community
had been selected as a possible sampling site for a majorinternational biomedical research effort, especially whenthe ‘Out of Africa’ theory of human population history
was discussed. Several people there commented that genetic variation research, by demonstrating people’s biological relatedness, might in some way help bring theworld’s people together – especially Yoruba or other people with African ancestry separated from their roots
through slavery. Few people, even when probed, expressed concern that the Project could exacerbate racialor ethnic divisions.
Among the CEPH donors approached for new consent, stated reactions to the Project were generally quite
positive, as reflected in the fact that to date, 367 living
individuals including third-generation offspring (farmore than the number whose samples were needed) haveconsented to their samples being used, either for the HapMap or for other genetic variation research. Where investigators had the opportunity to discuss the Project in person, 95 out of 95 individuals agreed to participate. This
very high rate of acceptance of the Project among the
CEPH donors may, of course, be primarily a reflection of
the relatively high socioeconomic status of this particulargroup of donors, coupled with their long, successful history of collaboration in other genetic studies; it is unclear

how generalizable this finding would be to othergroups.
Some specific concerns about the Project were expressed. Although the data from each site have not yet
been fully analyzed, a preliminary review suggests the
emergence of a few predominant themes in each community.
Among the Yoruba, where most of the participants inthe community engagement process were lay individuals
with no background or training in biomedical researchor related issues, the most frequent concerns raised wereabout:– the physical process of blood drawing– how the blood samples would be handled– the disposal plans for the blood samples that were notused.
In Japan, where many though by no means all of theindividuals approached had some sophistication about
biomedical research, the main concerns expressed wereabout:– privacy and confidentiality– how the samples would be labeled– whether the HapMap would somehow be used to try
to define genetically who is a ‘real’ Japanese person– the potential for discrimination against minority
groups in Japan and against Japanese people living as
minorities in other countries– the potential for commercial use of the stored samples,
especially by US biotechnology companies– how adequate oversight over the samples would be ensured once the samples had been sent to a US repository.
In China, where the community engagement process
involved a broad range of individuals, with varying degrees of sophistication regarding biomedical research,the main concerns (although voiced by only a few participants) were that:– the Project would not include samples from all ethnic
groups in China– the samples might be used for reproductive cloning– information from the samples might be used for forensic purposes– the blood drawing might cause infection– personal genetic information might be ‘leaked’ outside the Project– knowledge derived from the Project could lead to discrimination (although few people reported that they
thought the Project itself would exacerbate racial or
ethnic tensions).

Community Engagement for the HapMap

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A few CEPH donors asked to give new consent to havetheir samples used for the Project questioned whether by
allowing this, their privacy and the strict controls on access to phenotypic information would continue to be
maintained rigorously. These donors were reassured,
however, when it was explained that the HapMap would
include no individual identifiers and that the links to theidentities kept by the local investigators would never beshared with other Project investigators, the repository or
any future investigators who may use the samples (except
for collaborators of the sample collectors).

General Reactions to Genetic Variation Research

Despite the occasional expression of the concerns outlined above, we detected no critical opposition to theProject or to genetic variation research in general, at anyof the sites. In particular, we found what appeared to be
an absence of widespread concern about the potential forgroup stigmatization that might result from studies that
use the HapMap. While some critics of genetic variation
research might interpret this as indicative of people’s naiveté or inability to understand the Project, some alternative explanations are plausible.
One explanation is that most of the people approached
for participation were living in societies that were either
racially or ethnically quite homogeneous (in the case of
the Japanese) or in nonhomogeneous societies where they
were members of the majority populations (in the case of
the Yoruba and Han Chinese), and this circumstance
may have considerably influenced their viewpoints. For
example, in Nigeria, because most individuals’ ancestors
come from the African continent, considerably less ‘race
consciousness’ can be observed than exists in the US, forexample. Many Nigerians do have a strong sense of ethnic
identification, but few people expressed concern that genetic variation research alone was likely to have much
impact on ethnic divisions within the country or more
broadly. Japan is a relatively ethnically homogeneous society, and in China the specific community engaged wascomposed almost exclusively of individuals from the majority (Han) population. Also, in both Japan and China,
as in Nigeria, racial issues do not figure nearly as prominently in most people’s thinking as they do in the thinking of people from Western countries.
Individuals’ and communities’ conceptions of therisks associated with genetic variation research can be
expected to vary, depending on how they construct theirsocial identities and how those identities are perceived by
194

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others. For this reason, we must acknowledge that we may
well have encountered many more expressions of skepticism about the Project had we actively sought out theviews of minority group members (for example, Korean
or Chinese individuals living in Japan, members of someof the non-Han ethnic groups in China, or members ofsome of the numerous ethnic groups in Nigeria that aresmaller and thus potentially more vulnerable than the
Yoruba). Indeed, members of some such groups might
have wondered why samples from their populations werebeing ‘excluded’ from study – a circumstance that underscores the need for sustained engagement activities withmore broadly based participation. We also do not know
how similar groups in other countries, or groups perceived by others as similar to those participating in the
Project, conceive risks associated with this research. This
must be regarded as a significant limitation of these preliminary findings from the community engagement activities.
It is unclear whether the generally positive views about
this type of research expressed by those with whom theProject has been discussed so far will turn out to be sharedby most of the rest of the public, as awareness of the Project around the world grows. It is, however, worth observing that historically, concerns about the potential of genetic variation research to exacerbate forms of racism or
ethnic tension, and about the tendency of such research
to overfocus on genetics instead of the environment as amajor causative factor in disease, have often emerged not
so much from grassroots lay communities as from segments of the bioethics, social scientific and other professional communities. This is not to suggest that these concerns are without any basis, but merely to note that they
may not be as widely shared by members of the public assome might assume. It will be instructive to learn how
members of the additional populations approached forparticipation in a later phase of the Project – some ofwhich are racial and ethnic minorities in the US – willreact to the research.

Incorporating Community Input

While many scientific aspects of the Project design
were essentially fixed for scientific reasons, limiting theextent to which communities could alter the study design, certain practical aspects of the recruitment andsample collection processes were modified in direct response to information obtained in community discussions. One especially important matter on which comRotimi et al.

munity input was weighed was how to label each population’s samples and associated data. An exception to thiswere the CEPH donors, where, as discussed earlier, a formal process of community engagement was not feasible,
where the acronym ‘CEPH’ had already been chosenwhen the samples were first collected, and where adopting a different label for these samples for this Project
would likely only have engendered confusion in the scientific community.
In the places where new samples were collected, however, deciding how to label the samples required the disentanglement of complex notions of socially and genetically defined identity. While the selection of populations
to be included in the Project was based on ancestral geography, the communities engaged in or consulted for the
Project were, for the most part, composed of people witha range of socially and culturally (not genetically) defined
identities. For example, some individuals in the Ibadan,
Nigeria community engaged for participation consideredthemselves socially or culturally Yoruba even though
they were not technically eligible to donate because not
all of their grandparents were members of that specificethnic group. Some individuals in the BNU residential
community, while identifying as Han Chinese, may have
had recent ancestors of other Chinese ethnicities. A small
number of people in Japan who identify as, and culturally are, Japanese have some recent ancestry from Korea
or other parts of Asia. In many of these cases, moreover,the basis for these individuals’ constructions of their social identities is unknown by others. Many individuals
also construct their social identities primarily around religious, political or other affiliations, not around ethnicity or ancestry. In addition, some individuals – perhaps
most – view themselves simultaneously as belonging toseveral groups.
Thus, while each community provided input into how
its population’s samples should be labeled, the final decisions about labeling were based on a mix of community
input and scientific, ethical and practical considerations.
For example, in Japan, where this issue was discussed extensively, the names ‘Asian’ and ‘East Asian’ were rejected
because these broad geographic areas include muchgreater ancestral diversity than just Japanese. Ultimately,
the more specific descriptor ‘Japanese in Tokyo, Japan’(JPT) was chosen. Likewise, because Han is only one ofmany Chinese ethnicities, the label ‘Han Chinese in Beijing, China’ (CHB) was chosen over the more general descriptor ‘Chinese’, and ‘Yoruba in Ibadan, Nigeria’ (YRI)
was chosen over such terms as ‘African’, ‘Sub-SaharanAfrican’, ‘West African’ or ‘Nigerian’. To avoid overgen-

During the course of engaging the communities, several issues arose that necessitated a considered response.
For example, Yoruba community leaders used the occasion of a site visit by a staff member from the NIH (theagency that funded the community engagement) to request funds to contribute to the building of a local healthcenter. Emerging local standards of bioethics in Nigeria,
as stated in that country’s proposed National Code ofHealth Research Ethics, direct that in certain international collaborative studies, ‘research should be integrated with comprehensive capacity building, technology
transfer and health care delivery strategies that addresssignificant local health problems’ [18]. Consistent withthis guideline, and in recognition of the fact that Nigeria,
unlike the other participating countries, would receive
no benefits from participating in the genotyping (themost heavily funded part of the Project), the NIH had already provided modest funds at the beginning of the
Project. These funds had been used to enhance the basic
preventive and primary care services already available locally and the local collaborators received training andequipment. However, later in the course of interactingwith the community, some additional funds were sought
as a demonstration of reciprocity for the community’scontribution to the Project.
When the request was made, the community had already committed itself to participating and sample collection had already begun. Thus, there was little potential

Community Engagement for the HapMap

Community Genet 2007;10:186–198

eralizing the results from any studies of these samples,users of the HapMap and of the samples are directed to apage on the Project website that explains the importanceof using these specific terms, and not, for example, using‘African’ for the Yoruba samples (http://www.hapmap.
org/citinghapmap.html.en).
Our experience suggests that discussing the pros andcons of particular population identifiers with communities can be instructive – both to help communities understand the rationale for the study of genetic variation andto help investigators understand how people’s own socially constructed notions of identity may differ from theidentities geneticists seek to ascribe to them. This ultimately contributes greater rigor to the way the data areinterpreted. Such discussions can also help elucidate other community concerns. For example, investigators maylearn that a particular locality does not want its specificname used to better preserve its privacy.

Responding to Community Concerns

195

for undue influence; individual participants there, as inall communities, were compensated only for time andtravel. Nonetheless, deciding how to respond to the request raised ethical and practical challenges.
Several factors argued in favor of providing such funds.
First, as already noted, unlike in the 3 other countries,
where local investigators benefited directly by participating in the genotyping, no one in Nigeria was in a position
to do this, and thus that country was differently situated.
Coupled with this, the HapMap itself also will provide no
direct, immediate health benefits to donors; yet the samples will be made available to multiple investigators
around the world, including many in biotechnology andpharmaceutical companies in countries with better-developed biomedical research infrastructures. These investigators will receive considerable financial benefit
from future studies based on the HapMap, as they develop and commercialize useful therapeutic and diagnostic applications. Realistically, these applications will takemuch longer to reach Nigeria than countries with betterdeveloped health care delivery systems.
On the other hand, some members of the Project’s
Ethical, Legal and Social Implications Group and of the
Project’s Steering Committee were concerned that providing the requested funds might create a troublesome
precedent, leading to a climate in which future investigators – especially local investigators without support fromlarge funding agencies – would find it hard to conduct
their studies. Questions were also raised about potential
inequities with other participating HapMap communities. Existing sets of international guidelines on biomedical and research ethics provided limited help. While
such guidelines recognize the appropriateness of providing capacity building or other forms of community benefit, especially for population-based studies carried out inresource-poor countries [8, 9, 11, 19, 20], and while Nigeria’s own proposed National Code of Health Research
Ethics specifically recognizes the appropriateness of suchstrategies [18], the rules of most funding agencies, including the NIH, do not explicitly recognize ‘capacity building’ as an allowable cost item.
In the end, the NIH did offer – with approval from therelevant ethics committees and IRBs in Nigeria and the
US – the provision of some additional funds to compensate for various tangible cost items that had not earlier
been provided for, subject to the receipt of the documentation to support their disbursement. These funds will be
released to the chair of the CAG and another named community leader, who will hold them in trust for the community. The community may then choose to use the196

Community Genet 2007;10:186–198

funds to contribute toward the desired health center,along with funds being sought from other sources.
The Project was similarly challenged to respond tosome issues that arose in the course of the community
engagements in China and Japan. In both countries, concerns were expressed about whether the Coriell Institutewould provide the communities (through the CAGs) sufficient information on an ongoing basis to enable them toassess whether the samples really were being used in theagreed-upon ways.
In response to these concerns, the Coriell Institutemodified its Statement of Research Intent, a form that all
investigators who order samples must submit. Investigators who order the samples are now required to include astatement describing their proposed research in terms
that lay people can understand. These statements arethen provided to the CAGs by the Coriell Institute on aquarterly basis, along with a list of the names and institutions of the investigators who requested the samples. As
negotiated with the communities, each quarterly report
also includes a listing of all HapMap Project publications,major publications from studies that have used the HapMap and major publications from other studies that haveused the community’s samples. Periodic newsletters,
translated into the languages of all participating communities, are also produced; these include additional information about the Project, the participating communities
and how the HapMap is being used. The newsletters are
made available both to the CAGs (for further dissemination within each community) and to the public throughthe Coriell Institute website (http://coriell.umdnj.edu/
ccr/hapmap.html). CAG members are invited to suggest
to the Project management and the repository ways
to improve the usefulness of the information disseminated.
In further response to concerns initially expressed in
China and Japan about sending their samples to a US repository, the Director of the Cell Repositories at the Coriell Institute traveled to meet with CAG members in bothcountries. A similar visit to Nigeria is being discussed.
These visits, which also included Project representatives
from the NIH, provided an opportunity for community
members to learn about the repository’s commitment toserve as a responsible custodian of the samples, and what
policies and procedures are in place to do this. These visits also gave the repository and the Project managementa chance to listen to, and thus better understand, community members’ expressions of hopes for the Project
and future research with their samples, as well as lingering concerns.
Rotimi et al.

The Project’s Ethical, Legal and Social Implications
Group, along with the investigators who collected thesamples, continue to explore ways for CAGs in different
participating communities to initiate contact with eachother (such as through linked websites), and the Coriell
Institute has made additional funds available to help support such activities. The hope is that such efforts, overtime, will lead to greater transparency and trust, and to
the development of a sense of the Project as a truly global
enterprise.

Conclusion

Like all genetic variation research, the HapMap Project raises complex ethical, social and cultural issues. We
have tried to address some of these issues, in part, throughthe processes of community engagement and individual
informed consent described in this paper. More timemust pass before we can fully reflect on the lessons wehave learned. New issues may arise that cannot yet be anticipated – especially as the HapMap and the samples begin to be widely used. The CAGs have only recently been
formed and their effectiveness has not yet been tested.
Community engagement is still underway in other localities with other populations and, as we have noted, theexperiences at those sites may be quite different fromthose described here.
As with our understanding of the science of genetic
variation, our understanding of how to responsibly conduct research aimed at the study of individual and groupdifferences is evolving. We do not claim to have found theperfect model for engaging communities, and indeed, we
do not believe that a perfect model exists. We also do notthink that exercises in public dialogue alone can substitute for care in research design, data analysis and reporting of the findings of genetic variation studies.
Nor do we mean to suggest that a community engagement process as extensive as that used for this Project
must always be undertaken when samples are being collected for genetic research with identified populations.
However, the experience of this Project does suggest that,at the least, approaching such research in a spirit of openness can improve the presentation and interpretation of
the science, help investigators better understand the attitudes and concerns of the communities whose samples
they seek to study and, simultaneously, help communities
become engaged in the science.

Community Engagement for the HapMap

Appendix 1
Community Advisory Groups
The samples collected for the HapMap Project were not onlyused for the HapMap Project, but will also be used for future genetic variation studies. Such future studies, by building on the
HapMap data, will enhance the usefulness of the HapMap itself.
However, the Project recognized that members of the participating communities have a legitimate interest in remaining informed
about the nature of these future studies in which their samples
will be used.
Thus, in accordance with the policy of the repository at theCoriell Institute, a CAG was established at each site where new
samples were collected to serve as a liaison between the community and the repository. Each CAG consists of about 6–8 community representatives (who may or may not themselves be sample
donors). The CAGs meet periodically on a schedule of their choosing to discuss any matters of interest or concern, such as the statusof the Project, how the HapMap and the samples are being used,or developments in genetic variation research generally. Each
CAG is kept informed about general Project developments andfuture studies that use their community’s samples through a periodic newsletter (translated into the language of each participating community) and quarterly reports. The CAGs can then disseminate this information within their broader local communities.
The Coriell Institute will work with the CAGs to resolve any
concerns about future uses of the samples as they arise. In the unlikely event that a community’s samples were to be used in a manner inconsistent with the community’s stated wishes, as documented in the consent forms, the community could ask that all of
its samples be withdrawn from further distribution and the Coriell Institute would comply with that request.

Appendix 2
Language and Comprehension
Language and comprehension issues were, as predicted, quite
formidable. For example, in the Yoruba language, no word exists
for the concept of ‘genetics’. Although most Yoruba people speak
both Yoruba and English and understand the idea of inheritance(e.g. ‘diseases passed down in families from the mother and father
to their children’), explaining the meaning of ‘SNPs’ and ‘haplotypes’ was quite difficult, especially because almost none of the
Yoruba people engaged for participation had formal training in
genetics or biology. Even in Tokyo and Beijing, where many discussions were held in university settings, and in the CEPH community, where donors are unusually conversant about genetics
due to their long history of involvement in other genetic studies,
explaining the Project and the principles of genetic variation research in terms that could easily be understood was challenging.
One contributing factor may have been that the Project is notdirectly related to the study of any particular disease. While mostpeople seem to understand the idea of looking at blood samples
to unravel the genetic component of common diseases, it is muchharder to comprehend the purpose of creating a general resourcethat is not immediately related to the study of a specific, named
disease, and for which only blood samples, without identifiers or

Community Genet 2007;10:186–198

197

medical data, are being collected. This experience underscores
the importance of developing robust informed consent and engagement or consultation processes when conducting non-disease-specific genetic variation research. Such activities can be informative in modifying recruitment materials and consent documents to ensure that they are accessible to lay and culturally
responsive persons.

Acknowledgements
We thank many people who contributed to developing themodels for community engagement/public consultation and informed consent used in this Project, and generally to helping us
address the ethical, social, and cultural issues raised by the Project. In particular, we thank: J. Greenberg, R. Anderson, J. Beck,
D. Coppock, A. Leach, J. Mintzer, and the staff of the Coriell Institute for support for the newsletters, quarterly reports, andCAGs; C. Chick, E. DeHaut, M. Inaba, E. Jordan, A. Peck, S. Saylor, and J. Witonsky for general support; the people of Tokyo, Japan, the Yoruba people of Ibadan, Nigeria and the community at
Beijing Normal University who were generous by participating inpublic consultations and community engagements; the people inthese communities who donated their blood samples; and thepeople in the Utah CEPH community who allowed the samples
they donated earlier to be used for the Project.
This work was supported in part by Genome Canada, Genome
Quebec, the Chinese Ministry of Science and Technology, theChinese Academy of Sciences, the Natural Science Foundation ofChina, the Hong Kong Innovation and Technology Commission,
the University Grants Committee of Hong Kong, the Japanese
Ministry of Education, Culture, Sports, Science and Technology,
the Wellcome Trust, the SNP Consortium, the US NIH (FIC, NCI,
NCRR, NEI, NHGRI, NIA, NIAAA, NIAID, NIAMS, NIBIB,
NIDA, NIDCD, NIDCR, NIKKK, NIEHS, NIGMS, NIMH,
NINDS, OD), the W.M. Keck Foundation and the Delores Dore
Eccles Foundation.

References
1 International HapMap Consortium: A haplotype map of the human genome. Nature
2005;437:1299–1320.
2 International HapMap Consortium: The International HapMap Project. Nature 2003;
426:789–796.
3 International HapMap Consortium: Integrating ethics and science in the International HapMap Project. Nat Rev Genet 2004; 5:
467–475.
4 Sharp RR, Foster MW: Involving study populations in the review of genetic research. J
Law Med Ethics 2000;28:41–51, 3.
5 State of Utah Census 2000 Data Profile.
www.business.utah.edu/bebr/bebrCensus/
State/State6.pdf.
6 Wikipedia: ‘Yoruba’. http://en.wikipedia.org/
wiki/Yoruba (accessed 18 October 2006).
7 CIA World Fact Book: ‘China’. https://www.
cia.gov/cia/publications/factbook/geos/
ch.html (accessed 18 October 2006).
8 Human Genome Organisation (HUGO):Statement on the principled conduct of genetics research. 1996. http://www.gene.ucl.
ac.uk/hugo/conduct.htm.
9 Council for International Organizations ofMedical Sciences (CIOMS): International
ethical guidelines for biomedical research
involving human subjects. 2002. http://w w w.cioms.ch/frame_guidelines_nov_
2002.htm.

198

10 Deschenes M, Cardinal G, Knoppers BM,
Laberge C; Quebec Network of Applied Genetic Medicine (RMGA): Statement of principles on the ethical conduct of human genetic research involving populations. Res
Health 2003;30:1–4.
11 United Nations Educational, Scientific andCultural Organization (UNESCO): Universal declaration on the human genome andhuman rights. J Med Philos 1998; 23: 334–
341.
12 United Nations Educational, Scientific andCultural Organization (UNESCO): International Declaration on Human Genetic Data.
2003. http://portal.unesco.org/en/ev.php@
U R L _ I D =17 72 0 & U R L _ D O = D O_
TOPIC&URL_SECTION=201.html.
13 Bankowski Z, Levine RJ (eds): Ethics and Research on Human Subjects: International
Guidelines. Proceedings of the XXVIthCIOMS Conference. Geneva, CIOMS, 1993,
p 63.
14 People’s Republic of China, Ministry of Science and Technology and the Ministry of
Public Health: Interim measures for the administration of human genetic resources.
1998. http://www.ebnic.org/interim.htm.
15 Human Genome Organisation (HUGO):Statement on DNA sampling: control and access. 1998. http://www.gene.ucl.ac.uk/hugo/sampling.html.

Community Genet 2007;10:186–198

16 Japanese Ministry of Education, Culture,
Sports, Science and Technology (MEXT),Council for Science and Technology, Bioethics Committee: Fundamental principles ofresearch on the human genome. 2000. http://
www.Mext.go.jp/a_menu/shinkou/shisaku/
principles.htm.
17 The Japanese Ministry of Education, Culture, Sports, Science and Technology, theJapanese Ministry of Health, Labour andWelfare, the Japanese Ministry of Economy, Trade and Industry: Ethical guidelines
for analytical research on the human genome/genes. 2001. http://www.eubios.info/
EGHGR.htm.
18 National Health Research Ethics Committeeof Nigeria (NHGREC), Federal Ministry of
Health, Department of Health Planning andResearch: National Code of Health Research
Ethics. 2006. http://www.nhrec.net/nhrec/
code.html.
19 Secretariat of the Convention on Biological
Diversity: Bonn Guidelines on Access to Genetic Resources and Fair and Equitable
Sharing of the Benefits Arising out of their
Utilization. Montreal: Secretariat of theConvention on Biological Diversity, 2002.
http://www.biodiv.org/doc/publications/cbd-bonn-gdls-en.pdf.
20 Human Genome Organisation (HUGO):Statement on benefit sharing. Genome Digest 2000;6:7–9.

Rotimi et al.