HEALTH LAW

FEB 2011

Genetic Research
among the Havasupai: A
Cautionary Tale
Robyn L. Sterling, JD, MPH 
Citation
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Imagine that you donated a bit of blood to a
researcher whom you believed intended to identify a
genetic link to a disease ravaging your community,
only to discover years later not only that you had
been misled, but that other researchers were mining
your DNA for reasons that were never disclosed to
you. What would you do? This was the case for the
Havasupai Tribe in Arizona, who learned that
researchers at Arizona State University (ASU) had
gathered blood samples from them to search for a
link to diabetes but used the samples to look for
other diseases and genetic markers, thereby
violating the basic tenets of human subject research.
To determine where the breakdown between the
Havasupai Tribe and ASU occurred, let’s look at
community-based participatory research and its
underlying principles of informed consent.

Background
The Agency for Healthcare Research and Quality
(AHRQ) defines community-based participatory
research (CBPR) as a “collaborative research
approach that is designed to ensure and establish
structures for participation by communities affected
by the issue being studied, representatives of
organizations, and researchers in all aspects of the
research process to improve health and well-being
through taking action, including social change” [1].
CBPR, as AHRQ describes it, further entails shared
decision-making power and mutual ownership
between the community and the researchers. Over
time, researchers have come to recognize that, with
community commitment, they could work effectively
to assist in identifying and resolving health care
disparities [2].
Topics for community studies have ranged from
asthma in urban populations to genetic propensities
to develop various types of cancer. Well-known CBPR
studies include those that helped identify the BRCA1
gene prevalence in the Ashkenazi Jewish population
and the sickle cell trait among African Americans.
Certain fundamental principles apply in conducting
CBPR, regardless of the group in question. It is vital
that a researcher respect the community and its
values and beliefs and follow the principles of human
subject research, namely, obtaining informed
consent from the community. Not only can failure to
adhere to informed consent protocols be devastating
to a community, it can permanently damage the
credibility of a researcher or institution.

The Principle of Informed Consent

Informed consent has been a point of debate and
concern since its origin in the post-World War II
Nuremburg Code, which is a set of guidelines drafted
to ensure that harms to humanity like those in Nazi
“medical” experiments would never occur again in
the name of science [3]. Informed consent is
achieved when a competent individual agrees to
participate in a study or procedure after having
expressed clear understanding of all material facts
related to the activity in question. These facts are
provided by the researchers and empower the
individual to make an informed choice, in full
recognition of the nature and consequences of the
decision.
The Tuskegee Syphilis Study, which began in 1932,
involved approximately 400 African American men
infected with syphilis. The U.S. Public Health Service
tracked these men for roughly 40 years without
providing them with a diagnosis of their disease or
any opportunity for treatment [4]. This was a direct
violation of informed consent principles and the
antithesis of how CBPR should be performed. As a
result of their lack of treatment and lack of
knowledge, hundreds of the men and their families
lost their lives to a treatable disease.
Congress responded with the National Research Act
in 1974, which created the National Commission for
the Protection of Human Subjects in Biomedical and
Behavioral Research [5]. In 1979, this commission
published the Belmont Report to identify the
minimum ethical principles required for human
subject research, which included informed consent as
a basic tenet [6].
The federal government did not stop with the
Belmont Report. In 1991, the U.S. Department of
Health and Human Services published the Common
Rule, which mandated that researchers obtain
informed consent before engaging in most types of
human subject testing [7]. The elements of informed
consent have been codified within the Common Rule
to include: a statement that the study involves
research; the purpose of the research, the duration
of the research and the procedures that will be
followed, a description of any potential benefits to
the subject or to others which may result from the
research, a statement describing how the
confidentiality of the subject will be maintained, and
an explanation of whom to contact for answers about
the research and research subjects’ rights [8]. These
elements are vital to ensuring that an individual can
truly make an informed choice.
Obtaining informed consent from a community for
CBPR can be difficult, time-consuming, and fraught
with challenges. Sometimes, for example, an
individual is not only consenting on his or her own
behalf but must secure the approval of a community
leader before participating in any type of study.
Therefore, a researcher must take the time to
establish a trusting relationship between herself and
the community and its leaders, which includes
following through on promises and maintaining
contact with the community [9]. A community leader
can be the head of a Native American tribe, the head
of a church or synagogue, a spokesperson for an
informal community of individuals with a common
interest, and so on. Lines of communication must
remain open to these leaders and the community as
a whole to ensure dialogue and participation
throughout the study and the relationship.
Perhaps the most crucial element is making sure that
the community is truly informed about the full extent
of the research and consents to it. The Havasupai
Tribe’s claim against Arizona State University
illustrates what can happen when researchers—
either intentionally or through negligence—do not
make the full extent of their research goals known.

The Havasupai Tribe CBPR Experience

In 1989, members of the small tribe of approximately
650 poverty-stricken people approached ASU
anthropology professor John Martin, with whom the
tribe had a preexisting and trusting relationship [10],
seeking to learn why the incidence of diabetes within
their community was increasing. Genetic links to
diabetes had been identified in another tribe, and, if
a similar gene could be located among the
Havasupai, it might provide a tool for addressing risk
factors. Professor Martin approached a colleague,
Therese Markow, a geneticist at ASU, to assist in the
study. Dr. Markow’s previous work had touched upon
other diseases, specifically schizophrenia, and she
wished to expand the study to include mental
disorders [11]. Professor Martin is said to have
responded that he did not believe there would be
interest in Dr. Markow’s research on the part of the
tribe, but Dr. Markow continued with her mental
disorder research based on the samples provided by
the tribe [11].
Approximately 100 tribal members signed a broad
consent document to “study the causes of
behavioral/medical disorders” [12]. Most of them had
not completed high school, and, for many, English
was a second language [12]. All of the tribe members
believed that they were donating blood solely for the
purpose of looking for a link to diabetes to improve
the health in their community [13]. ASU researches
determined that the genetic link to diabetes found in
the other tribe did not exist among the Havasupai
but continued their research into medical disorders
without seeking additional consent from the tribe.
Other ASU researchers also utilized the Havasupai
samples for their work and published papers about
inbreeding, alcoholism, and the origin and migration
of the tribe from Asia. Although the hard data
published in these studies may have been accurate,
the studies violated informed consent, and theories
about the tribe’s origin conflicted with their core
beliefs.
The complaint in the case of Havasupai Tribe vs. the
Arizona Board of Regents  listed six charges that
included lack of informed consent, violation of civil
rights, and intentional or negligent infliction of
emotional distress. ASU paid for a private
investigation to keep the suit out of the courts, and,
after seven years of litigation, 41 members of the
Havasupai Tribe settled in April 2010. ASU is
reported to have spent upwards of $1.7 million
defending itself against the allegations. The terms of
the settlement were a payment of $700,000, the
return of the blood samples, and additional
assistance including scholarships and help in
obtaining federal funding for a health clinic for the
impoverished tribe [12]. The Havasupai tribe’s
experience demonstrates the extensive harm that
can be done to a community—some of it irreparable
—through violation of informed consent. The
research subjects were not adequately informed
about how their DNA would be used at the university,
and this significantly impacted the integrity of their
community and their trust of outsiders.
The April 2010 settlement initiates a healing period
for the tribe, yet ASU’s reputation—along with that of
the researchers—seems to have been permanently
undermined by the informed consent violation. Some
tribes still refuse to work with ASU [12]. This situation
could have been avoided if the informed consent
documents had been clear, and if information had
been properly and patiently conveyed in full to the
tribe. Moreover, those looking to engage in further
study of the original samples should have gone back
to the community to obtain new informed consent for
the additional research. It appears unlikely that the
Havasupai would have consented to research related
to schizophrenia and other disorders, which would
have saved the tribe much of the emotional distress
they experienced. What can be gleaned from this
glaring example of research gone wrong is that, by
failing to follow proper protocols and regulations, a
researcher engaging in CBPR may inflict permanent
harm on the participating community and chill future
research among disadvantaged populations.
 READ MORE

 Public health/Clinical research,

 Clinical research/Vulnerable populations

REFERENCES

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Community-based participatory research: assessing
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